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List of works by Pawel Stankiewicz

16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn

scientific article

6q22.1 microdeletion and susceptibility to pediatric epilepsy.

scientific article

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

scientific article published in February 2018

A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures

scientific article published on 8 June 2015

A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation ⬇️

scientific article published on 07 April 2011

A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human

scientific article published on 19 September 2012

A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH

scientific article published on 01 August 2007

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

scientific article published in January 2004

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

scientific article

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

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

Absence of heterozygosity due to template switching during replicative rearrangements

scientific 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 deletions in CDKL5 in females with early-onset seizure disorder

scientific article (publication date: October 2009)

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

scientific article published in February 2017

An estimation of the prevalence of genomic disorders using chromosomal microarray data

scientific article published on 24 April 2018

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

scientific article published on 23 July 2012

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

scientific article published on 03 December 2013

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

scientific article published on 3 October 2012

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

scientific article published on 11 April 2015

Assessment of the role of copy-number variants in 150 patients with congenital heart defects

scientific article published on 01 July 2012

Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement

scientific article published in October 2008

CAV3 mutation in a patient with transient hyperCKemia and myalgia

scientific article published on 9 July 2016

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

scientific article

CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region.

scientific article published on 12 April 2017

Centers for Mendelian Genomics: A decade of facilitating gene discovery

scientific article published on 09 February 2022

Challenges in clinical interpretation of microduplications detected by array CGH analysis

scientific article published on 01 May 2010

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 chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development

scientific article

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

scientific article

Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.

scientific article published on 20 November 2013

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).

scientific article published in October 2008

Clinical genomics and contextualizing genome variation in the diagnostic laboratory

scientific article published on 21 September 2020

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

scientific article

Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.

scientific article published on 5 January 2012

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

scientific article

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

Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B.

scientific article published in February 2015

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

scientific article published on 22 May 2013

Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice

scientific article

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

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

scientific article published on 10 January 2019

Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation

scientific article published in November 2007

Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay

scientific article published on 09 September 2011

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

scientific article published on 26 March 2009

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

scientific article published on 14 May 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 variants in patients with intellectual disability affect the regulation of ARX transcription factor gene

scientific article published on 4 September 2015

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL

scientific article

Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features

scientific article published in August 2005

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

scientific article

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 three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia

scientific article published in February 2008

Deciphering the complexity of simple chromosomal insertions by genome sequencing

scientific article published on 29 July 2020

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders ⬇️

scientific article published on April 5, 2012

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

scientific article published on 16 May 2013

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44

scientific article published on 21 September 2011

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

scientific article

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

scientific article

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

scientific article published on 8 August 2012

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

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

scientific article published on 15 October 2019

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 of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

scientific article

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

scientific article

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.

scientific article published in May 2011

Efficient Multiple Samples aCGH Analysis for Rare CNVs Detection

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

scientific article

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 against ZNF469 being causative for keratoconus in Polish patients

scientific 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

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.

scientific article

Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.

scientific article

Functional performance of aCGH design for clinical cytogenetics ⬇️

scientific article published on March 16, 2013

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

scientific article (publication date: 2013)

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

scientific article

Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination

scientific article

Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease.

scientific article published on April 2015

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

scientific article

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

scientific article

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

scientific article published on December 2008

Genotype-phenotype correlation in two Polish neonates with alveolar capillary dysplasia

scientific article published on 29 June 2020

HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome ⬇️

scientific article published on November 1, 2010

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

scientific article published on 19 September 2017

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

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder ⬇️

journal article from 'The American Journal of Human Genetics' published in 2021

Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

scientific article published on 07 February 2020

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

scientific article

Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination

scientific article

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities

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

scientific article published on 21 September 2017

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

scientific article published on 09 August 2012

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

scientific article published on 6 October 2015

Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation

scientific article published on 30 November 2017

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

scientific article published in May 2010

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

scientific article published on 8 October 2011

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

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

scientific article

Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay

scientific article published on 13 March 2013

Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay

scientific article published in July 2010

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

scientific article published on 11 October 2012

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

scientific article published on 15 May 2007

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

article

Microdeletion and microduplication syndromes.

scientific article

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

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 clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

scientific article

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 cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients

scientific article published on January 2007

Molecular-evolutionary mechanisms for genomic disorders

scientific article

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

scientific article published on 25 July 2008

Multiple samples aCGH analysis for rare CNVs detection ⬇️

scientific article published on June 11, 2013

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

scientific article

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

scientific article

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

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.

scientific article published on 15 October 2014

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome

scientific article published on 11 January 2019

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

scientific article

Novel FOXF1 Deep Intronic Deletion Causes Lethal Lung Developmental Disorder, Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins ⬇️

scientific article published on September 4, 2013

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

scientific article published on 12 April 2013

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

scientific article

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome

scientific article published in May 2007

PTCH1 duplication in a family with microcephaly and mild developmental delay

scientific article

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

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

scientific article

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

scientific article published on 4 July 2016

Phenotypic manifestations of copy number variation in chromosome 16p13.11.

scientific article

Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

scientific article

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 interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq

scientific article published on 21 January 2021

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

scientific article published on 15 June 2018

Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

scientific article

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

scientific article published on 01 November 2006

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

scientific article published on 01 June 2020

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

scientific article published on 29 August 2012

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

scientific article

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

scientific article published on 7 September 2018

Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays

scientific article

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

scientific article published on 2 November 2011

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

scientific article

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond-Blackfan anaemia ⬇️

scientific article published on October 4, 2010

Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2

article by Melissa B Ramocki et al published July 2011 in American Journal of Medical Genetics

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

Reply to Amor et al.

scientific article published on 18 January 2012

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

scientific article published on 14 June 2006

SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay

scientific article published on 06 September 2013

SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements

scientific article published on 13 January 2017

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

Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.

scientific article published on 5 August 2013

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.

scientific article

Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function ⬇️

scientific article published on August 14, 2012

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

scientific article published on 20 April 2004

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

scientific article

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

scientific article

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

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

Structural variation in the human genome and its role in disease

scientific article

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

scientific article published on May 2002

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

scientific article

Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation.

scientific article published in April 2004

TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.

scientific article

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

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

scientific article

The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia

scientific article published on 01 October 2019

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 complex behavioral phenotype of 15q13.3 microdeletion syndrome.

scientific article published on 10 March 2016

The phenotype of recurrent 10q22q23 deletions and duplications

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

Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins.

scientific article published on 19 May 2014

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

scientific article published on 30 April 2007

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

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

Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family

scientific article published on 4 May 2016

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

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

scientific article

[Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities]

scientific article published on 01 January 2006

[Genetic bases of autism spectrum disorders]

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