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List of works by James R. Lupski

2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture

scientific article

2012 highlights in translational 'omics ⬇️

scientific article published on January 31, 2013

2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements

scientific article published on 01 March 2019

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

scientific article

22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease

scientific article published in April 2017

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

scientific article

A Genocentric Approach to Discovery of Mendelian Disorders

scientific article published on 24 October 2019

A Human in Human Genetics

scientific article published on 01 March 2019

A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

scientific article published on 19 December 2018

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

scientific article published on 25 January 2017

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis

scientific article published on 13 February 2018

A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination

scientific article

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

scientific article published on 13 February 2019

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo

scientific article published on 08 August 2018

A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes.

scientific article

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

scientific article published on 06 November 2019

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

scientific journal article

A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men

scientific article (publication date: 2012)

A functional role for structural variation in metabolism ⬇️

scientific article published on January 1, 2013

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

scientific article published on 09 March 2016

A girl with duplication 17p10-p12 associated with a dicentric chromosome

scientific article published in January 2004

A large CRISPR-induced bystander mutation causes immune dysregulation

scientific article published on 18 February 2019

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo

scientific article published on 11 October 2012

A microhomology-mediated break-induced replication model for the origin of human copy number variation

scientific article

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

scientific article published on 10 May 2018

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

scientific article published on 10 October 2019

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.

scientific article

A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction

scientific article published on 17 September 2016

A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo

scientific article

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)

scientific article published on 9 November 2011

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

scientific article

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.

scientific article published on 2 February 2016

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies

scientific article published on 15 August 2005

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

scientific article

AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.

scientific article published on 6 February 2007

Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations

scientific article published on 07 July 2011

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome

scientific article

Absence of heterozygosity due to template switching during replicative rearrangements

scientific article

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in Folliculin Interacting Protein 1 deficiency

scientific article published on 09 September 2020

Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.

scientific article

Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome

scientific article

Allan Award Introduction: Arthur L. Beaudet

scientific article published on May 2008

Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models

scientific article published on 01 December 2019

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

scientific journal article

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

scientific article published on 23 April 2015

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

scientific article

An ABCA4 genomic deletion in patients with Stargardt disease

scientific article published in June 2003

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

scientific article published in February 2017

An evolution revolution provides further revelation

scientific article published on 01 December 2007

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

scientific article published on March 2017

Analysis of the ABCA4 genomic locus in Stargardt disease

scientific article

Approaches for identifying germ cell mutagens: Report of the 2013 IWGT workshop on germ cell assays(☆).

scientific article published on 24 January 2015

Assessing structural variation in a personal genome-towards a human reference diploid genome.

scientific article published on 11 April 2015

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

scientific article

Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis

scientific article

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

scientific article published on 01 October 2020

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

scientific article

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

scientific article

Balancing between adaptive and maladaptive cellular stress responses in peripheral neuropathy

scientific article published on 01 February 2008

Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).

scientific article published on 6 January 2004

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay

scientific article published on 25 October 2018

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

scientific article published on 31 August 2016

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

scientific article published on 17 October 2019

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

scientific article published on 11 July 2019

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

scientific article published on 14 April 2020

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability ⬇️

scientific article

Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy

scientific article published on 26 April 2021

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

scientific article published in Nature Communications

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

scientific article published on 13 August 2019

Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy

scientific article published on 04 October 2020

Biallelic mutations in IRF8 impair human NK cell maturation and function ⬇️

scientific article

Biallelic variants in KIF14 cause intellectual disability with microcephaly

scientific article published on 17 January 2018

Brain Copy Number Variants and Neuropsychiatric Traits ⬇️

scientific article published on October 15, 2012

CAV3 mutation in a patient with transient hyperCKemia and myalgia

scientific article published on 9 July 2016

CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents

scientific article

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

scientific article

CMT4A: identification of a Hispanic GDAP1 founder mutation

scientific article (publication date: March 2003)

CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis

scientific article

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

scientific article published on 24 June 2020

COP9 signalosome subunit 3 is essential for maintenance of cell proliferation in the mouse embryonic epiblast

scientific journal article

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

scientific article published on 20 April 2015

Cardiovascular findings in duplication 17p11.2 syndrome ⬇️

scientific article published on October 17, 2011

Cerebral visual impairment and intellectual disability caused by PGAP1 variants

scientific article published on 25 March 2015

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

scientific article

Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells.

scientific article published on June 2015

Charcot-Marie-Tooth disease

scientific article published on 11 March 2009

Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management

scientific article published on 01 February 2006

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation

scientific article

Charcot-Marie-tooth disease type 1A Association with a spontaneous point mutation in thePMP22 gene

article

Chimeric transcripts resulting from complex duplications in chromosome Xq28

scientific article

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

scientific article

Circadian abnormalities in mouse models of smith–magenis syndrome: Evidence for involvement of RAI1 ⬇️

scientific article published on May 23, 2013

Clan genomics and the complex architecture of human disease

scientific article published on September 2011

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Clinical genomics and contextualizing genome variation in the diagnostic laboratory

scientific article published on 21 September 2020

Clinical genomics: from a truly personal genome viewpoint.

scientific article published on 25 May 2016

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

scientific article

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

scientific article published on January 2009

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

scientific article

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

scientific article

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

scientific article published on 24 July 2017

Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events ⬇️

scientific article published on October 5, 2012

Cognitive and adaptive behavior profiles in Smith-Magenis syndrome

scientific article published in June 2006

Cognitive phenotypes and genomic copy number variations

scientific article

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

scientific article published on 22 May 2013

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.

scientific article published on 7 December 2015

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?

scientific article published on 13 December 2012

Completing the map of human genetic variation

scientific article published on May 2007

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

scientific article published on 10 January 2019

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication

scientific article

Complex human chromosomal and genomic rearrangements

scientific article published on 25 June 2009

Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes

scientific article

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

scientific article published on 26 March 2009

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

scientific article

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy

scientific article

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

scientific article published on 30 April 2018

Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability

scientific article

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome

scientific article published on 21 September 2020

Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.

scientific article

Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation

scientific article published on 01 December 2002

Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma ⬇️

scientific article published on June 16, 2011

Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization

scientific article published on 19 April 2016

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

scientific article

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

scientific article published on 17 May 2019

Copy number variation at the breakpoint region of isochromosome 17q.

scientific article published on 19 August 2008

Copy number variation in human health, disease, and evolution

scientific article

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

scientific article published on August 2016

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL

scientific article

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

Cover

Curcumin facilitates a transitory cellular stress response in Trembler-J mice

scientific article published on 11 July 2013

Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.

scientific article

Cytogenetically visible inversions are formed by multiple molecular mechanisms

scientific article published on 09 September 2020

DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation

scientific article published in January 2002

DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.

scientific article published on August 2015

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

scientific article

DUF1220-domain copy number implicated in human brain-size pathology and evolution

scientific article

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

scientific article

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

scientific article published on 24 February 2016

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article published on 01 April 2017

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

scientific article

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

scientific article published in November 2017

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

scientific article published in January 2018

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

scientific article published on 28 February 2019

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.

scientific article published on 28 September 2016

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

scientific article

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

scientific article

Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1

scientific article

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

scientific article published on 01 January 2020

Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1)

scientific article

Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants

scientific article published on September 2010

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

scientific article published on 16 May 2013

Detection of clinically relevant copy number variants with whole-exome sequencing

scientific article

Detection of clinically relevant exonic copy-number changes by array CGH.

scientific article

Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.

scientific article

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

article

Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)

scientific article published on 07 May 2020

Digenic inheritance and Mendelian disease

scientific article published on 01 December 2012

Discordance of muscular dystrophy in monozygotic female twins: Evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy

article

Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin

scientific article

Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID

scientific article published on 02 June 2020

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

scientific journal article

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux

scientific article

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

scientific article published on 09 December 2019

Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation

scientific article published in September 2003

Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis

scientific article published on 9 February 2017

Dominant Transmission Observed in Adolescents and Families With Orthostatic Intolerance

scientific article published on 24 September 2016

Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform

scientific article published on 11 November 2020

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes

scientific article

Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT ⬇️

scientific article published on March 8, 2011

Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins

scientific article published on 20 June 2017

Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia

scientific article published on 01 September 2005

Duplications, deletions, and single-nucleotide variations: the complexity of genetic arithmetic ⬇️

scientific article published on October 4, 2012

Early recurrence in standard-risk medulloblastoma patients with the common idic(17)(p11.2) rearrangement

scientific article

Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders

scientific article published on 14 March 2017

Emergence of a predominant clone of community-acquired Staphylococcus aureus among children in Houston, Texas

scientific article

Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits ⬇️

scientific article published on April 5, 2012

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

scientific article published on 12 May 2016

Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)].

scientific article published in February 2006

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

scientific article published on 28 June 2017

Erratum to: Somatic Mosaicism: Implications for Disease and Transmission Genetics

article

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

scientific article published on 22 June 2006

Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome ⬇️

scientific article published on August 16, 2013

Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution

scientific article

Evolution of ABCA4 proteins in vertebrates

scientific article published in January 2005

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

scientific article

Exome capture sequencing identifies a novel mutation in BBS4 ⬇️

scientific article published on December 30, 2011

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

scientific article

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

scientific article

Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease

scientific article published on 01 August 2019

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

scientific article published on 27 June 2013

Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family

scientific article published on 10 August 2019

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

scientific article published on 17 April 2015

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

scientific article

Exploring the utility of whole‐exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness ⬇️

scientific article published on September 11, 2012

Expression patterns of cytochrome P4501B1 (Cyp1b1) in FVB/N mouse eyes

scientific article published in September 2002

FBN1 contributing to familial congenital diaphragmatic hernia.

scientific article published on 3 March 2015

First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis

scientific article published on 10 February 2017

Fliih, a gelsolin-related cytoskeletal regulator essential for early mammalian embryonic development

scientific article

Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over

scientific article

From genes to genomes in the clinic

scientific article published on 29 July 2015

From genomic medicine to precision medicine: highlights of 2015.

scientific article published on 29 January 2016

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

scientific article published on 06 May 2020

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations

scientific article published on 24 August 2007

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

scientific article published on 19 May 2020

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

scientific article (publication date: 2013)

GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease

scientific article

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

scientific article published on September 2016

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

scientific article published on 10 August 2016

Generation of the Sotos syndrome deletion in mice.

scientific article

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

scientific article

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

scientific article published on November 2015

Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)

scientific article published on 22 January 2020

Genetic and clinical analysis of ABCA4-associated disease in African American patients

scientific article

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

scientific article published on 9 April 2018

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

scientific article published on 27 November 2019

Genetic architecture of laterality defects revealed by whole exome sequencing

scientific article published on 08 January 2019

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

scientific article

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

scientific article

Genetics and genomics of behavioral and psychiatric disorders

scientific article

Genetics. Genome mosaicism--one human, multiple genomes

scientific article

Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.

scientific article

Genome Medicine: past, present and future ⬇️

scientific article published on January 31, 2011

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

scientific article

Genome structural variation and sporadic disease traits

scientific article published in September 2006

Genomic disorders ten years on.

scientific article published on 24 April 2009

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

scientific article

Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome

scientific article

Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

scientific article published on December 2008

Genomic medicine and neurological disease.

scientific article

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

scientific article

Genomic rearrangements and sporadic disease

scientific article published on July 2007

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

scientific article published on 20 September 2002

Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings

scientific article published on 01 February 2002

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

scientific article published on 23 July 2020

Germ-line and somatic DICER1 mutations in pineoblastoma

scientific article

Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations

scientific article published on June 2015

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

scientific article published on 13 March 2017

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

scientific article

Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation

scientific article

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

scientific article

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

scientific article published on 01 July 2020

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

scientific article

Harnessing genomics to identify environmental determinants of heritable disease

journal article published in 2013

Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity

scientific article published on 22 July 2019

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

scientific article

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

scientific article

High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile

scientific article

Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome

scientific article

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

scientific article published on 24 October 2019

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

scientific article

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism

scientific article published on 16 March 2015

Hotspots of homologous recombination in the human genome: not all homologous sequences are equal

scientific article

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

scientific article

Human NK cell deficiency as a result of biallelic mutations in MCM10

scientific article published on 31 August 2020

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome

scientific article published on 22 May 2020

Human genome sequencing in health and disease

scientific article

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization ⬇️

scientific article published on August 14, 2012

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

scientific article

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).

scientific article published in May 2002

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

scientific article published on 9 May 2016

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

scientific article

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

scientific article

Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis

article

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases

scientific article published in September 2008

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis

scientific article published on 26 July 2018

Identification of novel candidate disease genes from de novo exonic copy number variants.

scientific article published on 21 September 2017

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novelSHOXenhancer

scientific article published on 01 July 2012

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

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Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

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Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS

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Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

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Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation

scientific article published on 11 September 2019

Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome

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Implementing Genomic Medicine in the Clinic

Implementing genomic medicine in the clinic: the future is here

scientific article published on 10 January 2013

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

scientific article published on 5 February 2004

Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome

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Incidental copy-number variants identified by routine genome testing in a clinical population

scientific article published on 09 August 2012

Increased LIS1 expression affects human and mouse brain development

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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

scientific article published in December 2006

Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome

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Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice

scientific article published on 30 December 2019

Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms

scientific article published on 7 March 2013

Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.

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Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome

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Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results

scientific article published in May 2010

Insights into genetics, human biology and disease gleaned from family based genomic studies

scientific article published on 18 January 2019

Insights into genetics, human biology and disease gleaned from family based genomic studies

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Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease

scientific article published on 28 July 2020

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

scientific article published on 23 April 2019

Interphase FISH screening for the LCR-mediated common rearrangement of isochromosome 17q in primary myelofibrosis

scientific article published on 01 August 2005

Interruption of SOX10 function in myelinopathies

scientific article published on 01 August 2010

Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome

scientific article published on 01 January 2004

Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

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Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature

scientific article published on 23 December 2003

Introduction of Arthur L. Beaudet, Harland Sanders Award recipient

scientific article published in September 2002

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

scientific article published on 2 October 2011

Inverted low-copy repeats and genome instability--a genome-wide analysis

scientific article published on 11 October 2012

Leap year: Rare day to highlight rare diseases

journal article; published in Nature on 2012-01-18

Lessons learned from additional research analyses of unsolved clinical exome cases

scientific article published on 21 March 2017

Linking newborn severe combined immunodeficiency screening with targeted exome sequencing: A case report.

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Looking back at genomic medicine in 2011 ⬇️

scientific article published on January 30, 2012

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

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Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

scientific journal article

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

scientific article published on 7 June 2017

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

scientific article published on 13 July 2020

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

scientific article published on 19 May 2006

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

scientific article

Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).

scientific article published on 15 May 2007

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.

scientific article

Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication

scientific article published on 13 February 2014

Mechanisms for Complex Chromosomal Insertions.

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Mechanisms for human genomic rearrangements

scientific article published on 3 November 2008

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

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Mechanisms for recurrent and complex human genomic rearrangements ⬇️

scientific article published on March 20, 2012

Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

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Mechanisms of change in gene copy number

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Mechanisms underlying structural variant formation in genomic disorders

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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.

scientific article published on 28 February 2019

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

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Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA

scientific article published on 26 March 2009

Microbial DNA typing by automated repetitive-sequence-based PCR.

scientific article

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

scientific article

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

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Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation

scientific article published on 01 March 2006

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

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Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

scientific article published on 23 October 2019

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.

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Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies ⬇️

scientific article published on September 1, 2003

Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation

scientific article published on 15 November 2005

Molecular and genetic bases of disease

scientific article published on 19 June 2013

Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype

scientific article published in December 2005

Molecular detection and genotyping of pathogens: more accurate and rapid answers

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Molecular diagnostic experience of whole-exome sequencing in adult patients

scientific article published on 03 December 2015

Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies

scientific article published on January 2006

Molecular epidemiological analysis of the changing nature of a meningococcal outbreak following a vaccination campaign

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Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

scientific article published on 11 January 2016

Molecular findings among patients referred for clinical whole-exome sequencing

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Molecular genetics of Charcot-Marie-Tooth neuropathy

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Molecular genetics, biology, and therapy for inherited peripheral neuropathies

scientific article published on 01 January 2006

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

scientific article (publication date: April 2004)

Molecular mechanisms for genomic disorders

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Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

scientific article published on 17 March 2009

Molecular-evolutionary mechanisms for genomic disorders

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Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

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Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

scientific article published on 16 December 2015

Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

scientific article published in October 2012

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

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Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

scientific article published on 29 August 2018

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

scientific journal article

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

scientific article (publication date: October 2002)

Mutation survey of known LCA genes and loci in the Saudi Arabian population

scientific article published on 20 October 2008

Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome

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Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly

scientific article published on 14 November 2019

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

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Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

scientific journal article

Mutations in PI3K110δ cause impaired NK cell function partially rescued by rapamycin treatment

scientific article published on 9 January 2018

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome

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Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa

scientific article published on 05 March 2009

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly

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Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency

scientific article published on 16 March 2018

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

scientific journal article

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

scientific article published on 30 September 2004

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

scientific article published on 08 May 2013

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

scientific article published on 15 September 2020

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation

scientific article published on 5 January 2012

NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity

scientific article published on 26 October 2020

NR2F1 mutations cause optic atrophy with intellectual disability.

scientific article published on 23 January 2014

New mutations and intellectual function ⬇️

scientific article published on 01 December 2010

New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy

scientific article

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.

scientific article

Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1

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Non-coding genetic variants in human disease

scientific article

Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms

scientific article published on 22 October 2004

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

scientific article

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

scientific article published on 7 July 2016

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

scientific article

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

scientific article

Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168.

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Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction

scientific article published in August 2017

Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome

scientific article published on 30 July 2019

Novel genetic causes for cerebral visual impairment

scientific article

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

scientific article published on 10 March 2016

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

scientific article published on 08 April 2019

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

scientific article published on 13 October 2020

Objective measures of sleep disturbances in children with Potocki-Lupski syndrome

scientific article published on 24 July 2019

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

scientific article

Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans

scientific article published on 01 April 2006

Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior.

scientific article

Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy

scientific article

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

scientific article published on 09 April 2016

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

scientific article

PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E.

scientific article published on 12 March 2017

POGZ truncating alleles cause syndromic intellectual disability.

scientific article

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

scientific article

PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations

scientific article

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

scientific article published on 27 June 2019

Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics

scientific article

Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings

scientific article published on 06 May 2020

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

scientific article

Passage number is a major contributor to genomic structural variations in mouse iPSCs

scientific article

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

scientific article

Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike

scientific journal article

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

scientific article

Personal genome research : what should the participant be told?

scientific article

Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)

scientific article published on 17 August 2018

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models ⬇️

scientific article published on November 23, 2010

Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases

scientific article published on 15 September 2020

Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation

scientific article published on 29 July 2015

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

scientific article published on 14 August 2017

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

scientific journal article

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

scientific article published on 01 September 2005

Phenotypic expansion illuminates multilocus pathogenic variation.

scientific article

Phenotypic expansion in - a common cause of intellectual disability in females

scientific article published on 15 September 2018

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome)

scientific article published on 29 November 2019

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs

scientific article published on 4 July 2016

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

scientific article published in December 2014

Population bottlenecks as a potential major shaping force of human genome architecture

scientific article (publication date: July 2007)

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

scientific article

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis ⬇️

scientific article published on December 14, 2010

Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive

scientific article

Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements

scientific article published on 15 June 2018

Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.

scientific article published on April 2012

Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization

scientific article published on 01 December 2005

Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation

scientific article published on 01 December 2007

Prevalence of spinocerebellar ataxia 36 in a US population

scientific article published on 18 July 2017

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

scientific article

Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm

article

Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING.

scientific article published in April 2018

Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions

scientific article published on 01 June 2020

Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses

scientific article published on 24 November 2021

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome

scientific article published in November 2006

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

scientific article published in July 2017

Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.

scientific article published on 21 May 2007

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).

scientific article

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

scientific article published on 12 July 2016

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

scientific article published on 29 August 2012

Rare Variant in <i>MRC2</i> Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome

scientific article published in August 2024

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.

scientific article

Real-time detection of TDP1 activity using a fluorophore-quencher coupled DNA-biosensor

scientific article published on 25 April 2013

Reanalysis of Clinical Exome Sequencing Data

scientific article published on 01 June 2019

RecQ promotes toxic recombination in cells lacking recombination intermediate-removal proteins

scientific article

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

scientific article

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome

scientific article published on 17 April 2014

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

scientific article published on 30 January 2020

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

scientific article published on 07 September 2016

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

scientific journal article

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

scientific article published on 19 December 2019

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

scientific article (publication date: 12 November 2009)

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

scientific article

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

scientific article published on 26 June 2009

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome

scientific article published on 30 September 2004

Replicative mechanisms for CNV formation are error prone

scientific article published on 22 September 2013

Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome

scientific article published on 16 November 2012

Reply to Boylan.

scientific article published in April 1994

Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional

scientific article published on July 2013

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

scientific article published on 07 December 2016

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle

scientific article

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle

article

Retrotransposition and structural variation in the human genome

scientific article

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

scientific article published on 14 June 2006

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation

scientific article (publication date: April 2005)

SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway

scientific article published on 4 April 2007

SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads

scientific article published on 3 October 2017

Schizophrenia: Incriminating genomic evidence

scientific article published in Nature

Secondary findings and carrier test frequencies in a large multiethnic sample

scientific article published on 13 June 2015

Serial segmental duplications during primate evolution result in complex human genome architecture

scientific article

Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS

scientific article published on 13 July 2020

Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.

scientific article published on 20 April 2004

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

scientific article

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p ⬇️

scientific article published on July 1, 1992

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases

scientific article

Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects

scientific article

Somatic mosaicism: implications for disease and transmission genetics

scientific article

Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats

scientific article published on 7 January 2005

Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

scientific article

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

scientific article published in July 2007

Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome

scientific article

Structural variation in the human genome

scientific article published on 01 March 2007

Structural variation in the human genome and its role in disease

scientific article

Structural variation of the human genome: mechanisms, assays, and role in male infertility

scientific article

Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.

scientific article published on May 2002

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy

scientific article published in February 2006

TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice

article

TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease

scientific article published on 26 September 2019

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

scientific article published on 14 January 2019

TLR7 gain-of-function genetic variation causes human lupus

scientific article published on 27 April 2022

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

scientific article published on 27 June 2013

Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene

scientific article published on 09 May 2019

Ten years of Genome Medicine

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

scientific article

The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism ⬇️

scientific article published on November 20, 2012

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.

scientific article published on 24 May 2012

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

scientific article published on 21 June 2009

The Deep Genome Project

scientific article published on 03 February 2020

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

scientific article published on 20 June 2019

The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia

scientific article published on 28 March 2018

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy

scientific article published on 21 August 2014

The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats

scientific article

The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

scientific article published on 17 July 2018

The complete genome of an individual by massively parallel DNA sequencing

scientific article

The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy

scientific article

The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis

scientific article published on 12 November 2002

The phenotype of recurrent 10q22q23 deletions and duplications

scientific article

The phenotypic spectrum of Xia-Gibbs syndrome

scientific article published on 25 April 2018

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

scientific article

Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain

scientific article published on 13 September 2007

Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.

scientific article

Triallelic inheritance: a bridge between Mendelian and multifactorial traits

scientific article

Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications

scientific article published in October 2005

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

scientific article published on 9 April 2018

Two male sibs with severe micrognathia and a missense variant in MED12.

scientific article published on 7 June 2016

Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates

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Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

scientific article published on 6 September 2017

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

scientific article

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)] ⬇️

scientific article published on November 1, 2003

Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing

scientific article published on 5 October 2016

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

scientific article

What Have Studies of Genomic Disorders Taught Us About Our Genome? ⬇️

scientific article published on 01 January 2012

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy

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Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome

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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

scientific article published on 31 October 2017

Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20

scientific article published on 04 October 2019

Whole-Exome Sequencing in Familial Parkinson Disease

scientific article published on 23 November 2015

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

scientific article published on 16 November 2016

Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis

scientific article published on 23 September 2011

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome

scientific article

Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia.

scientific article published on 5 May 2015

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

scientific article published on 22 September 2016

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia

scientific article

Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia

scientific article

Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome

scientific article

Whole-genome sequencing for optimized patient management

scientific article published in June 2011

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

scientific article

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome

scientific article published on 03 March 2020

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

scientific article published on 31 March 2020

X-linked acrogigantism syndrome: clinical profile and therapeutic responses

scientific article

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

scientific article published on 14 November 2019

Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus

scientific article published on 03 August 2018

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