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List of works by Jill A Rosenfeld

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

scientific article published in November 2017
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

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

scientific article published on 14 August 2017
Implication of LRRC4C and DPP6 in neurodevelopmental disorders

scientific article published on 19 October 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
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

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

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

scientific article published on 15 September 2018
Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity

scientific article published on December 2012
Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study.

scientific article published on 25 February 2016
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

scientific article published on 8 April 2015
19q13.32 microdeletion syndrome: Three new cases

scientific article published on September 16, 2014
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities

scientific article published on 28 August 2015
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

scientific article published on 01 January 2020
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
Genomic and genetic variation in E2F transcription factor-1 in men with nonobstructive azoospermia.

scientific article
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
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF

scientific article published on 08 May 2019
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.

scientific article
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

scientific article published on 19 March 2020
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

scientific article published on 15 October 2019
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article published on 01 April 2017
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

scientific article published on 12 October 2020
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

scientific article published on 02 July 2019
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

scientific article published on 30 January 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

scientific article published in January 2018
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
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

scientific article published on 23 July 2020
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

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

scientific article published on 18 February 2021
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 21 October 2020
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies

scientific article published on 16 January 2024
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
Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia

scientific article published on 13 November 2020
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome)

scientific article published on 29 November 2019
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

scientific article published on 14 April 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
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

scientific article published on 25 September 2019
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

scientific article published on 05 November 2020
De novo copy number variants and parental age: Is there an association?

scientific article published on 25 December 2019
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy

scientific article published on 4 October 2021
Response to Benn

scientific article published on April 1, 2013
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

scientific article published on 17 October 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

article

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