R. Rabin

发表

Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population

J. Ekstein, J. Pappas, Yoel Hirsch, 2021, American journal of medical genetics. Part A.

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

A. V. Vulto-van Silfhout, S. Antonarakis, B. Asselbergh, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Germline AGO2 mutations impair RNA interference and human neurological development

R. Pfundt, M. Reijnders, G. Meister, 2020, Nature Communications.

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.

H. Mefford, K. Yamakawa, M. Bainbridge, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Expanding the phenotypic spectrum of COLEC10‐Related 3MC syndrome: A glimpse into COLEC10‐Related 3MC syndrome in the Ashkenazi Jewish population

V. Meiner, E. Levy-Lahad, J. Ekstein, 2022, American journal of medical genetics. Part A.

Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.

R. Lifton, K. Choate, L. Boyden, 2019, American journal of human genetics.

Genotype-phenotype correlation at codon 1740 of SETD2.

A. Radmanesh, I. Glass, J. Hurst, 2020, American journal of medical genetics. Part A.

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

D. Horn, M. Holtgrewe, K. Kosaki, 2021, Genetics in Medicine.

Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

J. Graham, F. Alkuraya, N. Hauser, 2021, American journal of medical genetics. Part A.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

J. Graham, K. Bowling, A. Afenjar, 2019, Genetics in Medicine.

De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation

R. Tsien, O. Devinsky, D. Tester, 2021, Proceedings of the National Academy of Sciences.

Sudden unexpected death in asymptomatic infants due to PPA2 variants

D. Goldstein, O. Devinsky, M. Halvorsen, 2019, Molecular genetics & genomic medicine.

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

P. Appelbaum, J. Wynn, R. Ottman, 2018, Clinical genetics.

Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent

F. Millan, J. Pappas, R. Rabin, 2018, American journal of medical genetics. Part A.

Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases

E. Zackai, D. Zeevi, B. Keena, 2019, American journal of medical genetics. Part A.

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

H. Rehm, D. Kolbe, C. Morton, 2021, European Journal of Human Genetics.

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

H. Rehm, D. Kolbe, C. Morton, 2021, European Journal of Human Genetics.

PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy

J. Rosenfeld, S. Lalani, V. Chau, 2021, Clinical genetics.

Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans

V. Tillmann, S. Smerdon, G. Stewart, 2023, The Journal of clinical investigation.

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2023, Genes.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

H. J. Schelhaas, S. Naidu, E. Gardella, 2024, Epilepsia.

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

V. Narayanan, N. Orenstein, J. Giltay, 2024, Cell death & disease.