Alexander M Holtz
Overview
Explore the profile of Alexander M Holtz 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
16
Citations
223
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.
Berger E, Jauss R, Ranells J, Zonic E, von Wintzingerode L, Wilson A, et al.
Genet Med
. 2024 Nov;
:101326.
PMID: 39540377
Purpose: Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of...
2.
Harel T, Spicher C, Scheer E, Buchan J, Cech J, Folland C, et al.
Brain
. 2024 May;
147(8):2732-2744.
PMID: 38753057
Deubiquitination is crucial for the proper functioning of numerous biological pathways, such as DNA repair, cell cycle progression, transcription, signal transduction and autophagy. Accordingly, pathogenic variants in deubiquitinating enzymes (DUBs)...
3.
Shepherdson J, Hutchison K, Wellalage Don D, McGillivray G, Choi T, Allan C, et al.
Am J Hum Genet
. 2024 Feb;
111(3):487-508.
PMID: 38325380
Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11 encodes a transcription factor that has been linked...
4.
Koch I, Slovik M, Zhang Y, Liu B, Rennie M, Konz E, et al.
Life Sci Alliance
. 2024 Jan;
7(3).
PMID: 38182161
Neurodevelopmental disorders with intellectual disability (ND/ID) are a heterogeneous group of diseases driving lifelong deficits in cognition and behavior with no definitive cure. X-linked intellectual disability disorder 105 (XLID105, #300984;...
5.
Gracia-Diaz C, Zhou Y, Yang Q, Maroofian R, Espana-Bonilla P, Lee C, et al.
Nat Commun
. 2023 Jul;
14(1):4109.
PMID: 37433783
Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the...
6.
Gold N, Adelson S, Shah N, Williams S, Bick S, Zoltick E, et al.
JAMA Netw Open
. 2023 May;
6(5):e2312231.
PMID: 37155167
Importance: Newborn genome sequencing (NBSeq) can detect infants at risk for treatable disorders currently undetected by conventional newborn screening. Despite broad stakeholder support for NBSeq, the perspectives of rare disease...
7.
Flanagan F, Holtz A, Vargas S, Genetti C, Schmitz-Abe K, Casey A, et al.
NPJ Genom Med
. 2023 Mar;
8(1):7.
PMID: 36878902
A male infant presented at term with neonatal respiratory failure and pulmonary hypertension. His respiratory symptoms improved initially, but he exhibited a biphasic clinical course, re-presenting at 15 months of...
8.
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...
9.
Holtz A, Harrington A, McNamara E, Kielian A, Soul J, Martinez-Ojeda M, et al.
Eur J Med Genet
. 2019 Nov;
63(4):103802.
PMID: 31698102
Mabry syndrome is a glycophosphatidylinositol (GPI) deficiency characterized by intellectual disability, distinctive facial features, intractable seizures, and hyperphosphatasia. We expand the phenotypic spectrum of inherited GPI deficiencies with novel bi-allelic...
10.
Cardenas V, DiPaola F, Adams S, Holtz A, Ahmad A
J Pediatr
. 2017 Apr;
186:179-182.
PMID: 28410752
No abstract available.