List of works - Jill A Rosenfeld

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

scientific article

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 complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

scientific article published on 05 November 2020

A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders

scientific article

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

scientific article

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

scientific article

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

scientific article

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 21 October 2020

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

scientific article published on 30 January 2020

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 GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

scientific article published on 14 April 2020

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Clinical diagnosis by whole-genome sequencing of a prenatal sample

scientific article

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

scientific article published on 24 July 2017

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

scientific article

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

scientific article

Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study.

scientific article published on 25 February 2016

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

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

scientific article published on 02 July 2019

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 Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

scientific article published in November 2017

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 copy number variants and parental age: Is there an association?

scientific article published on 25 December 2019

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

scientific article published on 01 January 2020

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

scientific article published on 19 March 2020

Diagnostic utility of microarray testing in pregnancy loss.

scientific article published on 2 April 2015

Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons

scientific article published on 29 June 2021

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities

scientific article

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

scientific article published on 30 December 2013

Disruptive CHD8 mutations define a subtype of autism early in development

scientific article

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

scientific article published on 15 October 2019

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

scientific article published on 25 September 2019

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

Estimates of penetrance for recurrent pathogenic copy-number variations ⬇️

scientific article published on December 20, 2012

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

scientific article published on 12 October 2020

Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication

scientific article

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

scientific article

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

scientific article published on 17 January 2013

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities

scientific article published on 28 August 2015

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

scientific article (publication date: February 2012)

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

scientific article

Genomic and genetic variation in E2F transcription factor-1 in men with nonobstructive azoospermia.

scientific article

Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia

scientific article published on 13 November 2020

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

scientific article published on 23 July 2020

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

scientific article published on 13 March 2017

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

scientific article published on 25 January 2013

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

scientific article published on April 2012

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

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

scientific article

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity

scientific article published on December 2012

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

scientific article published on 21 September 2017

Implication of LRRC4C and DPP6 in neurodevelopmental disorders

scientific article published on 19 October 2016

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

scientific article published on 6 October 2015

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

article

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020

Lessons learned from additional research analyses of unsolved clinical exome cases

scientific article published on 21 March 2017

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

scientific article

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

article

Molecular diagnostic experience of whole-exome sequencing in adult patients

scientific article published on 03 December 2015

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

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

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

scientific article

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

scientific article

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

scientific article published on 8 April 2015

POGZ truncating alleles cause syndromic intellectual disability.

scientific article

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability

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

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

scientific article published on 14 August 2017

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 heterogeneity of genomic disorders and rare copy-number variants

scientific article

RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes

scientific article published on 18 February 2021

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

scientific article published on 07 September 2016

Refining analyses of copy number variation identifies specific genes associated with developmental delay

scientific article

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

scientific article published on 07 December 2016

Response to Benn ⬇️

scientific article published on April 1, 2013

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF

scientific article published on 08 May 2019

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

scientific article published on 19 April 2012

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications ⬇️

scientific article published on March 1, 2010

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 complex behavioral phenotype of 15q13.3 microdeletion syndrome.

scientific article published on 10 March 2016

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

scientific article

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations

scientific article published on 17 March 2016

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

scientific article published on 19 May 2016

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

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 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

List of works by Jill A Rosenfeld

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

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

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

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

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

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Clinical diagnosis by whole-genome sequencing of a prenatal sample

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

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

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study.

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

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

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

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

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

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

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

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

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

De novo copy number variants and parental age: Is there an association?

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

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

Diagnostic utility of microarray testing in pregnancy loss.

Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Disruptive CHD8 mutations define a subtype of autism early in development

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

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

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

Estimates of penetrance for recurrent pathogenic copy-number variations ⬇️

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication

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

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

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

Genomic and genetic variation in E2F transcription factor-1 in men with nonobstructive azoospermia.

Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia

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

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

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

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

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

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity

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

Implication of LRRC4C and DPP6 in neurodevelopmental disorders

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

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

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Lessons learned from additional research analyses of unsolved clinical exome cases

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

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

Molecular diagnostic experience of whole-exome sequencing in adult patients

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

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

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

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

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

POGZ truncating alleles cause syndromic intellectual disability.

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability

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

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

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

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

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

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes

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