David B Everman
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Explore the profile of David B Everman including associated specialties, affiliations and a list of published articles.
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46
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1411
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Recent Articles
1.
Walton N, Nagarajan R, Wang C, Sincan M, Freimuth R, Everman D, et al.
J Am Med Inform Assoc
. 2023 Dec;
31(2):536-541.
PMID: 38037121
Objective: Given the importance AI in genomics and its potential impact on human health, the American Medical Informatics Association-Genomics and Translational Biomedical Informatics (GenTBI) Workgroup developed this assessment of factors...
2.
Fang X, Hilton B, Clarkson K, Rogers R, Schroer R, Childers A, et al.
Cytogenet Genome Res
. 2023 Jul;
163(1-2):14-23.
PMID: 37497920
Chromosome 2p (chr2p) duplication, also known as trisomy 2p, is a rare chromosome abnormality associated with developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most of the reported...
3.
Rots D, Jakub T, Keung C, Jackson A, Banka S, Pfundt R, et al.
Am J Hum Genet
. 2023 May;
110(6):963-978.
PMID: 37196654
De novo variants are a leading cause of neurodevelopmental disorders (NDDs), but because every monogenic NDD is different and usually extremely rare, it remains a major challenge to understand the...
4.
Cooley Coleman J, Gass J, Srikanth S, Pauly R, Ziats C, Everman D, et al.
Hum Mol Genet
. 2022 Dec;
32(9):1457-1465.
PMID: 36458889
Mosaic variants in the PIK3CA gene, encoding the catalytic subunit of phosphoinositide 3-kinase (PI3K), produce constitutive PI3K activation, which causes PIK3CA-related overgrowth spectrum disorders. To date, fewer than 20 patients...
5.
Coenen-van der Spek J, Relator R, Kerkhof J, McConkey H, Levy M, Tedder M, et al.
Genet Med
. 2022 Nov;
25(1):63-75.
PMID: 36399132
Purpose: Witteveen-Kolk syndrome (WITKOS) is a rare, autosomal dominant neurodevelopmental disorder caused by heterozygous loss-of-function alterations in the SIN3A gene. WITKOS has variable expressivity that commonly overlaps with other neurodevelopmental...
6.
Cooley Coleman J, Fee T, Bend R, Louie R, Annese F, Stallworth J, et al.
Am J Med Genet A
. 2022 Aug;
188(10):2988-2998.
PMID: 35924478
Rett (RTT) syndrome, a neurodevelopmental disorder caused by pathogenic variation in the MECP2 gene, is characterized by developmental regression, loss of purposeful hand movements, stereotypic hand movements, abnormal gait, and...
7.
Cordovado A, Schaettin M, Jeanne M, Panasenkava V, Denomme-Pichon A, Keren B, et al.
Hum Mol Genet
. 2022 May;
31(19):3325-3340.
PMID: 35604360
Intellectual disability (ID) is a neurodevelopmental disorder frequently caused by monogenic defects. In this study, we collected 14 SEMA6B heterozygous variants in 16 unrelated patients referred for ID to different...
8.
Yu J, Liao P, Xu W, Jones J, Everman D, Flanagan-Steet H, et al.
J Cell Sci
. 2021 Nov;
134(24).
PMID: 34817055
Wnt signaling is essential for normal development and is a therapeutic target in cancer. The enzyme PORCN, or porcupine, is a membrane-bound O-acyltransferase (MBOAT) that is required for the post-translational...
9.
Rodriguez-Palmero A, Boerrigter M, Gomez-Andres D, Aldinger K, Marcos-Alcalde I, Popp B, et al.
Genet Med
. 2021 Feb;
23(5):888-899.
PMID: 33597769
Purpose: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with...
10.
Harrington A, Bridges C, Berto S, Blankenship K, Cho J, Assali A, et al.
Biol Psychiatry
. 2020 May;
88(6):488-499.
PMID: 32418612
Background: Microdeletions of the MEF2C gene are linked to a syndromic form of autism termed MEF2C haploinsufficiency syndrome (MCHS). MEF2C hypofunction in neurons is presumed to underlie most of the...