Publications by authors named "David B Everman"

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, David B Everman

Am J Hum Genet· November 2025

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A clinical and genotype-phenotype analysis of MACF1 variants.
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, David B Everman, Camerun Washington

Am J Hum Genet· October 2025

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Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup.
Nephi A Walton, Radha Nagarajan, Chen Wang, Murat Sincan, Robert R Freimuth, David B Everman

J Am Med Inform Assoc· January 2024

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Large Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations.
Xiaolan Fang, Benjamin Hilton, Katie Clarkson, R Curtis Rogers, Richard Schroer, David B Everman

Cytogenet Genome Res· November 2023

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, David B Everman

Am J Hum Genet· June 2023

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Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
Jessica A Cooley Coleman, Jennifer M Gass, Sujata Srikanth, Rini Pauly, Catherine A Ziats, David B Everman

Hum Mol Genet· April 2023

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DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Jet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael A Levy, David B Everman

Genet Med· January 2023

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Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
Jessica A Cooley Coleman, Timothy Fee, Renee Bend, Raymond Louie, Fran Annese, David B Everman

Am J Med Genet A· October 2022

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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Amélie Cordovado, Martina Schaettin, Médéric Jeanne, Veranika Panasenkava, Anne-Sophie Denommé-Pichon, David B Everman

Hum Mol Genet· September 2022

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Structural model of human PORCN illuminates disease-associated variants and drug-binding sites.
Jia Yu, Pei-Ju Liao, Weijun Xu, Julie R Jones, David B Everman

J Cell Sci· December 2021

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DLG4-related synaptopathy: a new rare brain disorder.
Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, Kimberly A Aldinger, Íñigo Marcos-Alcalde, David B Everman

Genet Med· May 2021

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MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome-like Behaviors in Mice.
Adam J Harrington, Catherine M Bridges, Stefano Berto, Kayla Blankenship, Jennifer Y Cho, David B Everman

Biol Psychiatry· September 2020

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BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
Tiana M Scott, Hui Guo, Evan E Eichler, Jill A Rosenfeld, Kaifang Pang, David B Everman

Hum Mutat· May 2020

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Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Diana Le Duc, Cecilia Giulivi, Susan M Hiatt, Eleonora Napoli, Alexios Panoutsopoulos, David B Everman

Brain· September 2019

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Redefining the Etiologic Landscape of Cerebellar Malformations.
Kimberly A Aldinger, Andrew E Timms, Zachary Thomson, Ghayda M Mirzaa, James T Bennett, David B Everman

Am J Hum Genet· September 2019

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A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes.
David C Gershlick, Morié Ishida, Julie R Jones, Allison Bellomo, Juan S Bonifacino, David B Everman

Hum Mol Genet· May 2019

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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
Eric G Bend, Erfan Aref-Eshghi, David B Everman, R Curtis Rogers, Sara S Cathey

Clin Epigenetics· April 2019

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RIT1 oncoproteins escape LZTR1-mediated proteolysis.
Pau Castel, Alice Cheng, Antonio Cuevas-Navarro, David B Everman, Alex G Papageorge

Science· March 2019

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The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function.
Martina Proietti Onori, Balwina Koopal, David B Everman, Jessica D Worthington, Julie R Jones

Hum Mutat· December 2018

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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Jennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, Alistair T Pagnamenta, Abdulrahman Alswaid, David B Everman

Genet Med· October 2018

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Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Yuri A Zarate, Constance L Smith-Hicks, Carol Greene, Mary-Alice Abbott, Victoria M Siu, David B Everman

Am J Med Genet A· April 2018

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Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.
Maja Sukalo, Eva Schäflein, Ina Schanze, David B Everman, Nima Rezaei

Mol Genet Genomic Med· November 2017

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Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Jessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B Everman, Lee M Frazer

Orphanet J Rare Dis· June 2017

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Neurobiologically-based treatments in Rett syndrome: opportunities and challenges.
Walter E Kaufmann, Jennifer L Stallworth, David B Everman, Steven A Skinner

Expert Opin Orphan Drugs· October 2016

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Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
Francisca Millan, Megan T Cho, Kyle Retterer, Kristin G Monaghan, Renkui Bai, David B Everman

Am J Med Genet A· July 2016

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