Adam Jackson
Overview
Explore the profile of Adam Jackson including associated specialties, affiliations and a list of published articles.
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51
Citations
382
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Recent Articles
1.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer A, et al.
Nat Med
. 2025 Jan;
31(2):478-489.
PMID: 39825153
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource,...
2.
Haghshenas S, Putoux A, Reilly J, Levy M, Relator R, Ghosh S, et al.
Genet Med
. 2024 Aug;
26(10):101226.
PMID: 39097820
Purpose: Valproic acid or valproate is an effective antiepileptic drug; however, embryonic exposure to valproate can result in a teratogenic disorder referred to as fetal valproate syndrome (OMIM #609442). Currently...
3.
Pagnamenta A, Yu J, Walker S, Noble A, Lord J, Dutta P, et al.
Am J Hum Genet
. 2024 May;
111(6):1140-1164.
PMID: 38776926
Detection of structural variants (SVs) is currently biased toward those that alter copy number. The relative contribution of inversions toward genetic disease is unclear. In this study, we analyzed genome...
4.
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...
5.
Salpietro V, Maroofian R, Zaki M, Wangen J, Ciolfi A, Barresi S, et al.
Am J Hum Genet
. 2023 Dec;
111(1):200-210.
PMID: 38118446
The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause...
6.
Jeffries L, Mis E, McWalter K, Donkervoort S, Brodsky N, Carpier J, et al.
Genet Med
. 2023 Nov;
26(2):101023.
PMID: 37947183
Purpose: We sought to delineate a multisystem disorder caused by recessive cysteine-rich with epidermal growth factor-like domains 1 (CRELD1) gene variants. Methods: The impact of CRELD1 variants was characterized through...
7.
Accogli A, Zaki M, Al-Owain M, Otaif M, Jackson A, Argilli E, et al.
Brain Commun
. 2023 Oct;
5(5):fcad222.
PMID: 37794925
encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in were shown to cause...
8.
Corn M, Nickell A, Lessard C, Jackson A
Case Rep Womens Health
. 2023 Sep;
39:e00543.
PMID: 37771424
Introduction: Prolactinomas resulting in pituitary apoplexy are an uncommon obstetrical complication. The hemorrhage can cause compression and necrosis of the pituitary gland as well as the optic chiasm, necessitating surgical...
9.
Boyle C, Brown L, Bzowyckyj A, Cannon B, Chu A, Grice G, et al.
Am J Pharm Educ
. 2023 Aug;
87(9):100577.
PMID: 37544612
The 50th Anniversary Commission to Reimagine the American Association of Colleges of Pharmacy (AACP) House of Delegates (HOD Commission) was charged to consider and recommend changes to the AACP Board...
10.
Bailey T, Jackson A, Berbece R, Wu K, Hondow N, Martin E
J Chem Inf Model
. 2023 Jul;
63(15):4545-4551.
PMID: 37463276
Predictive screening of metal-organic framework (MOF) materials for their gas uptake properties has been previously limited by using data from a range of simulated sources, meaning the final predictions are...