Jonathan A. Bernstein

发表

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

J. Rosenfeld, J. Lupski, R. Gibbs, 2022, American journal of human genetics.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Martin W. Breuss, A. Reymond, A. Pagnamenta, 2018, Neuron.

Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

A. Kolevzon, L. Soorya, J. Buxbaum, 2022, HGG advances.

DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling

H. Kayserili, B. Boisson, H. Tamary, 2022, Science Immunology.

Progestogen hypersensitivity: case report

Jonathan A. Bernstein, Marta Evangelho Machado Souza Marques, 2022, Jornal Brasileiro de Ginecologia.

Inappropriate p53 Activation During Development Induces Features of CHARGE Syndrome

D. M. Martin, Chieh-Yu Lin, Chien-Jung Lin, 2014, Nature.

RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome

P. Bayrak-Toydemir, D. Stevenson, C. Milla, 2016, American journal of medical genetics. Part A.

NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome

A. Gentles, O. Gevaert, B. Schaefer, 2022, Human molecular genetics.

Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons

W. Wong, A. Urban, R. Pattni, 2020, Biological Psychiatry.

InpherNet provides attractive monogenic disease gene hypotheses using patient genes indirect neighbors

G. Bejerano, J. Bernstein, J. Birgmeier, 2020, medRxiv.

Updated consensus guidelines on the management of Phelan–McDermid syndrome

A. Kolevzon, L. Soorya, J. Buxbaum, 2023, American journal of medical genetics. Part A.

Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium

A. Kolevzon, L. Soorya, J. Buxbaum, 2021, Human molecular genetics.

Neuronal defects in a human cellular model of 22q11.2 deletion syndrome

D. Geschwind, J. Rapoport, R. Dolmetsch, 2020, Nature Medicine.

Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia

Michael P Snyder, Masoud Garshasbi, M. Snyder, 2017, Cold Spring Harbor molecular case studies.

2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics.

A. Popejoy, A. Philp, F. Quintero-Rivera, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Direct induction of human neurons from fibroblasts carrying the neuropsychiatric 22q11.2 microdeletion reveals transcriptome- and epigenome-wide alterations

Wing Hong Wong, J. Hallmayer, A. Kundaje, 2021, bioRxiv.

Variable clinical severity in TANGO2 deficiency: Case series and literature review

M. Wheeler, G. Enns, T. Cowan, 2021, American journal of medical genetics. Part A.

Histamine N-methyltransferase pharmacogenetics: association of a common functional polymorphism with asthma.

R. Weinshilboum, S. Liggett, J. Bernstein, 2000, Pharmacogenetics.

Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome

S. Hintz, L. Hudgins, M. Brennan, 2014, American journal of medical genetics. Part A.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity

J. Bernstein, J. Martinez-Agosto, M. Nellist, 2021, PLoS genetics.

Respiratory system involvement in Costello syndrome

L. Hudgins, M. Brennan, D. Stevenson, 2016, American journal of medical genetics. Part A.

Mutation update for the SATB2 gene

Donna M. Martin, Marc S. Williams, E. Roeder, 2019, Human mutation.

A cross-sectional study of the neuropsychiatric phenotype of CACNA1C-related disorder

K. Timothy, S. Pașca, S. Pasca, 2022, medRxiv.

Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome

A. Kolevzon, L. Soorya, J. Buxbaum, 2021, Journal of neurodevelopmental disorders.

Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease

M. Wheeler, H. Tabor, M. Halley, 2022, Frontiers in Genetics.

Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects

L. Hudgins, J. Bernstein, M. Brennan, 2015, American journal of medical genetics. Part A.

Ectopia lentis as the presenting and primary feature in Marfan syndrome

H. Hoyme, L. Hudgins, J. Bernstein, 2011, American journal of medical genetics. Part A.

Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies

N. Gomez-Ospina, J. Bernstein, Jonathan A. Bernstein, 2016, American journal of medical genetics. Part A.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.