William B Dobyns
Overview
Explore the profile of William B Dobyns including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
282
Citations
12789
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Basava S, Billington Jr C, Carrel L, Biesecker L, Dobyns W
Genet Med
. 2025 Feb;
:101384.
PMID: 39963886
The concepts of X-linked (XL) "dominant" and "recessive" inheritance originated long before dosage compensation for X chromosome genes was understood, but now have no scientific basis. To address continuing misunderstanding...
2.
Peron A, DArco F, Aldinger K, Smith-Hicks C, Zweier C, Gradek G, et al.
Eur J Hum Genet
. 2024 Oct;
33(3):312-324.
PMID: 39448799
An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this,...
3.
Pierpont E, Labounek R, Gupta A, Lund T, Orchard P, Dobyns W, et al.
Neurology
. 2024 Aug;
103(5):e209764.
PMID: 39151102
Background And Objectives: Childhood cerebral adrenoleukodystrophy (C-ALD) is a severe inflammatory demyelinating disease that must be treated at an early stage to prevent permanent brain injury and neurocognitive decline. In...
4.
Metry D, Copp H, Rialon K, Iacobas I, Baselga E, Dobyns W, et al.
J Pediatr
. 2024 May;
272:114101.
PMID: 38759778
Objective: To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects,...
5.
Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia
Leslie A, Ward M, Dobyns W
Am J Med Genet A
. 2023 Nov;
194(3):e63416.
PMID: 37933701
Schizophrenia (SCZ) is a well-studied neuropsychiatric condition that has been shown to have a high degree of genetic heritability. Still, little data on the specific genetic risk variants associated with...
6.
Caron V, Chassaing N, Ragge N, Boschann F, Ngu A, Meloche E, et al.
Genet Med
. 2023 Apr;
25(8):100856.
PMID: 37092537
Purpose: Dominant variants in the retinoic acid receptor beta (RARB) gene underlie a syndromic form of microphthalmia, known as MCOPS12, which is associated with other birth anomalies and global developmental...
7.
Wang L, Heffner C, Vong K, Barrows C, Ha Y, Lee S, et al.
Proc Natl Acad Sci U S A
. 2023 Jan;
120(4):e2209983120.
PMID: 36669109
encodes an evolutionarily conserved widely expressed novel 8-pass transmembrane protein of unknown function in human. Here we identify homozygous hypomorphic missense variants in our recessive polymicrogyria (PMG) cohort. Patients carrying...
8.
Khalaf-Nazzal R, Fasham J, Inskeep K, Blizzard L, Leslie J, Wakeling M, et al.
Am J Hum Genet
. 2022 Oct;
109(11):2068-2079.
PMID: 36283405
Non-centrosomal microtubules are essential cytoskeletal filaments that are important for neurite formation, axonal transport, and neuronal migration. They require stabilization by microtubule minus-end-targeting proteins including the CAMSAP family of molecules....
9.
Mattison K, Tossing G, Mulroe F, Simmons C, Butler K, Schreiber A, et al.
Brain
. 2022 Sep;
146(4):1357-1372.
PMID: 36074901
The vacuolar H+-ATPase is an enzymatic complex that functions in an ATP-dependent manner to pump protons across membranes and acidify organelles, thereby creating the proton/pH gradient required for membrane trafficking...
10.
Holtz A, VanCoillie R, VanSickle E, Carere D, Withrow K, Torti E, et al.
Genet Med
. 2022 Aug;
24(10):2065-2078.
PMID: 35980381
Purpose: Nonmuscle myosin II complexes are master regulators of actin dynamics that play essential roles during embryogenesis with vertebrates possessing 3 nonmuscle myosin II heavy chain genes, MYH9, MYH10, and...