Publications by authors named "Beth Keena"

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Expanding Genetic Counselor Roles: A Model for Global Research Development.
Colleen C Muraresku, Elizabeth M McCormick, Lydia Rockart, T Blaine Crowley, Stephanie Asher, Beth A Keena

Genes (Basel)· July 2024

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Beth A Keena

J Clin Invest· January 2024

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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Beth A Keena

Brain· August 2023

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Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
Yukiko Kuroda, Aiko Iwata-Otsubo, Kerith-Rae Dias, Suzanna E L Temple, Koji Nagao, Beth A Keena

Genet Med· July 2023

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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A Micheil Innes, Beth Keena

HGG Adv· January 2023

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The experience of one pediatric geneticist with telemedicine-based clinical diagnosis.
Ian M Campbell, T Blaine Crowley, Beth Keena, Sarah Donoghue, Morgan L McManus

Am J Med Genet A· December 2022

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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Sayaka Kayumi, Luis A Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E Sheppard, Beth Keena

Genet Med· November 2022

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Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
James Fasham, Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily G Farrow, Beth Keena

Genet Med· March 2022

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De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, Jill A Rosenfeld, Jennifer A Bassetti, Beth Keena

Mol Autism· October 2021

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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sarah E Sheppard, Ian M Campbell, Margaret H Harr, Nina Gold, Dong Li, Beth Keena

Am J Med Genet A· June 2021

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Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.
Dena R Matalon, David A Stevenson, Elizabeth J Bhoj, Avni B Santani, Beth Keena

Am J Med Genet A· May 2021

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EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
Jennifer L Cohen, Samantha A Schrier Vergano, Sarah Mazzola, Alanna Strong, Beth Keena

Am J Med Genet A· December 2020

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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Theodore G Drivas, Dong Li, Divya Nair, Joseph T Alaimo, Mariëlle Alders, Beth Keena

Eur J Hum Genet· October 2020

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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, Beth Keena

Genet Med· August 2020

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Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Sarah K Fiordaliso, Aiko Iwata-Otsubo, Alyssa L Ritter, Mathieu Quesnel-Vallières, Katsunori Fujiki, Beth Keena

Am J Hum Genet· November 2019

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Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.
Rachel Rabin, Yoel Hirsch, Martin M Johansson, Joseph Ekstein, David A Zeevi, Beth Keena

Am J Med Genet A· October 2019

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Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
Lauren B Carter, Agatino Battaglia, Athena Cherry, Melanie A Manning, Maura Rz Ruzhnikov, Beth Keena

Am J Med Genet A· August 2019

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Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Katheryn Grand, Christina Gonzalez-Gandolfi, Amanda M Ackermann, Deema Aljeaid, Emma Bedoukian, Beth Keena

Am J Med Genet A· April 2019

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Robinow syndrome: a diagnosis at the fingertips.
Chaya N Murali, Beth Keena, Elaine H Zackai

Clin Dysmorphol· October 2018

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PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism.
Edward J Romasko, Elizabeth T DeChene, Jorune Balciuniene, Gozde T Akgumus, Ingo Helbig, Beth A Keena

Epilepsy Res· September 2018

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Beth A Keena

Am J Hum Genet· January 2018

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Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
Maria Francesca Bedeschi, Giuseppe Marangi, Maria Rosaria Calvello, Stefania Ricciardi, Francesca Pia Chiara Leone, Beth Keena

Eur J Med Genet· November 2017

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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.
Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Beth A Keena

Hum Mutat· November 2015

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