List of works - Jill A Rosenfeld

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

scientific article

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

scientific article published on 19 April 2012

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

scientific article

Disruptive CHD8 mutations define a subtype of autism early in development

scientific article

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

scientific article

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

scientific article

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

scientific article published on 07 December 2016

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

scientific article

Estimates of penetrance for recurrent pathogenic copy-number variations

scientific article published on December 20, 2012

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

scientific article

Clinical diagnosis by whole-genome sequencing of a prenatal sample

scientific article

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

Molecular diagnostic experience of whole-exome sequencing in adult patients

scientific article published on 03 December 2015

Lessons learned from additional research analyses of unsolved clinical exome cases

scientific article published on 21 March 2017

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

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

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

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

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

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 19 May 2016

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

scientific article published on 25 January 2013

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

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

scientific article published on 7 September 2018

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

scientific article published in November 2017

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on March 3, 2016

POGZ truncating alleles cause syndromic intellectual disability.

scientific article

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

scientific article published on 24 July 2017

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

scientific article published on 21 September 2017

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

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

Diagnostic utility of microarray testing in pregnancy loss.

scientific article published on 2 April 2015

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

scientific article

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

scientific article published on 31 August 2016

The complex behavioral phenotype of 15q13.3 microdeletion syndrome.

scientific article published on 10 March 2016

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

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

scientific article published on 13 March 2017

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

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

scientific article

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

scientific article published on 6 October 2015

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

scientific article (publication date: February 2012)

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

List of works by Jill A Rosenfeld

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

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

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

Disruptive CHD8 mutations define a subtype of autism early in development

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

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

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

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

Estimates of penetrance for recurrent pathogenic copy-number variations

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

Clinical diagnosis by whole-genome sequencing of a prenatal sample

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

Molecular diagnostic experience of whole-exome sequencing in adult patients

Lessons learned from additional research analyses of unsolved clinical exome cases

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

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

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

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

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

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

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

POGZ truncating alleles cause syndromic intellectual disability.

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

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

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

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

Diagnostic utility of microarray testing in pregnancy loss.

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

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

The complex behavioral phenotype of 15q13.3 microdeletion syndrome.

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

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

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

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

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

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

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