B. Keena

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Ying Liu, Jing Xie, Eric Legius, 2015, Human mutation.

A. Afenjar, T. Roscioli, A. Verloes, 2018, neurogenetics.

CBX1 variants cause a neurodevelopmental syndrome due to facultative heterochromatin dysfunction

E. Zackai, S. Grant, T. Roscioli, 2020 .

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

E. Zackai, H. Hakonarson, Y. Barash, 2019, American journal of human genetics.

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Adam C Gunning, E. Zackai, H. Hakonarson, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

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.

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy

Stephanie E. Vallee, E. Zackai, A. Battaglia, 2019, American journal of medical genetics. Part A.

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.

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations

E. Zackai, I. Krantz, C. Stanley, 2019, American journal of medical genetics. Part A.

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

E. Zackai, M. Harr, B. Keena, 2017, European journal of medical genetics.

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

E. Zackai, H. Hakonarson, H. Brunner, 2022, HGG advances.

CBX1 mutations cause a neurodevelopmental syndrome due to heterochromatin organizational alterations

E. Zackai, S. Grant, T. Roscioli, 2020 .

Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies

E. Zackai, A. Lin, A. Santani, 2021, American journal of medical genetics. Part A.

E. Zackai, I. Krantz, M. Deardorff, 2020, American journal of medical genetics. Part A.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

E. Zackai, G. Mortier, David T. Miller, 2017, American journal of human genetics.

Risks to sibs of probands with neural tube defects: data for clinic populations in British Columbia.

A. Sadovnick, B. Keena, J. Hall, 1986, American journal of medical genetics.

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

J. Rosenfeld, E. Zackai, L. Burrage, 2021, Molecular Autism.

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, I. Helbig, G. Akgumus, 2018, Epilepsy Research.

Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome.

D. Chitayat, B. Keena, J. Friedman, 1989, American journal of medical genetics.

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 clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

H. Hakonarson, J. A. Taylor, H. Brunner, 2021, medRxiv.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

E. Zackai, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Dominant-negative mutations in CBX1 cause a neurodevelopmental disorder

Maeson S. Latsko, E. Zackai, D. Koboldt, 2023, bioRxiv.

Use of genetic counselling services for neural tube defects.

A. Sadovnick, B. Keena, J. Hall, 1987, American journal of medical genetics.

Fetal mortality in sibships of cases with neural tube defects

A. Sadovnick, B. Keena, J. Hall, 1986, Clinical genetics.

The experience of one pediatric geneticist with telemedicine‐based clinical diagnosis

E. Zackai, I. Campbell, B. Keena, 2022, American journal of medical genetics. Part A.

Robinow syndrome: a diagnosis at the fingertips.

E. Zackai, B. Keena, C. Murali, 2018, Clinical dysmorphology.

Cultural influences and neural tube defects in the East Indian Sikh population of British Columbia.

B. Keena, J. Hall, M. Jawanda, 1987, Birth defects original article series.

Growth curves for height in Noonan syndrome

J E Allanson, J. Allanson, B. Keena, 1986, Clinical genetics.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

E. Zackai, J. Lupski, T. Strom, 2023, Brain : a journal of neurology.

Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.

Maeson S. Latsko, D. Koboldt, C. Obuse, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Rebecca C. Spillmann, R. Pfundt, J. Gécz, 2023, The Journal of clinical investigation.

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

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

Expanding Genetic Counselor Roles: A Model for Global Research Development

E. Bedoukian, B. Keena, Jessica M. Long, 2024, Genes.