Holly A. Dubbs

发表

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Ethan M. Goldberg, J. Gécz, M. Tress, 2022, Genetics in Medicine.

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. Genetics.

Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III–related leukodystrophy and Feingold syndrome

Denise L. Perry, A. Vanderver, R. Taft, 2021, Cold Spring Harbor molecular case studies.

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.

M. M. Morrow, M. Shinawi, D. Chitayat, 2021, Pediatric neurology.

Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia

Ethan M. Goldberg, Golder N Wilson, D. MacArthur, 2021, Genetics in Medicine.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

Ingo Borggraefe, Holger Lerche, Renzo Guerrini, 2017, Neurology.

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Michael F. Wangler, R. Pfundt, G. Cooper, 2018, Human Genetics.

Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy

E. Zackai, N. Spinner, S. Saitta, 2013, American journal of medical genetics. Part A.

Melorheostosis: Segmental Osteopoikilosis or a Separate Entity?

E. Zackai, M. Deardorff, H. Dubbs, 2015, Journal of pediatric orthopedics.

Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome

Joseph W Ray, Anne M Slavotinek, Elaine Zackai, 2018, American journal of medical genetics. Part A.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Carol J. Saunders, E. Zackai, G. Cooper, 2020, European Journal of Human Genetics.

Late‐onset partial complex seizures secondary to cortical dysplasia in a patient with maternal vitamin K deficient embryopathy: Comments on the article by Toriello et al. [2013] and first report of the natural history

E. Zackai, D. McDonald-McGinn, E. Bhoj, 2013, American journal of medical genetics. Part A.

Detection of mutually exclusive mosaicism in a girl with genotype‐phenotype discrepancies

E. Zackai, N. Spinner, Minjie Luo, 2015, American journal of medical genetics. Part A.

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

J. Rosenfeld, P. Stankiewicz, A. Breman, 2018, Cell.

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

Ethan M. Goldberg, Carol J. Saunders, C. Saunders, 2017, JAMA neurology.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

E. Zackai, E. Roeder, J. Clayton-Smith, 2019, Genetics in Medicine.

Randomized Clinical Trial of First‐Line Genome Sequencing in Pediatric White Matter Disorders

A. Vanderver, R. Schiffmann, J. Shults, 2020, Annals of neurology.

Janus Kinase Inhibition in the Aicardi-Goutières Syndrome.

A. Vanderver, J. Shults, H. Dubbs, 2020, The New England journal of medicine.

Exome sequencing expands the mechanism of SOX5‐associated intellectual disability: A case presentation with review of sox‐related disorders

Mahdi Sarmady, Avni Santani, Kajia Cao, 2015, American journal of medical genetics. Part A.

Table of Contents, Volume 185A, Number 6, June 2021

F. Alkuraya, K. Gripp, M. Harr, 2021 .

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Golder N Wilson, E. Zackai, A. Nordgren, 2015, American journal of human genetics.

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity

W. Chung, D. Segal, J. Graham, 2019, neurogenetics.

Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes.

C. Skraban, E. Bhoj, E. Zackai, 2024, American journal of medical genetics. Part A.

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

A. Toutain, R. Jobling, B. Krock, 2018, American journal of human genetics.

Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines

Marni J. Falk, E. Zackai, Mindy H. Li, 2021, American journal of medical genetics. Part A.

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy

Ethan M. Goldberg, N. Spinner, I. Helbig, 2019, JAMA network open.