Haley McConkey
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Explore the profile of Haley McConkey including associated specialties, affiliations and a list of published articles.
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54
Citations
351
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Recent Articles
1.
Houdayer C, Rooney K, van der Laan L, Bris C, Alders M, Bahr A, et al.
Eur J Hum Genet
. 2025 Mar;
PMID: 40044822
Rare genetic variants in ARID2 are responsible for a recently described neurodevelopmental condition called ARID2-related disorder (ARID2-RD). ARID2 belongs to PBAF, a unit of the SWI/SNF complex, which is a...
2.
Karimi K, Lichtenstein Y, Reilly J, McConkey H, Relator R, Levy M, et al.
Am J Hum Genet
. 2025 Jan;
112(2):414-427.
PMID: 39824190
Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense...
3.
Carvalho L, Rzasa J, Kerkhof J, McConkey H, Fishman V, Koksharova G, et al.
Mol Neurobiol
. 2024 Dec;
PMID: 39674972
Neurodevelopmental disorders (NDD) comprise clinical conditions with high genetic heterogeneity and a notable enrichment of genes involved in regulating chromatin structure and function. The EHMT1/2 epigenetic complex plays a crucial...
4.
Pavinato L, Carestiato S, Trajkova S, Sorasio L, Mantovani G, de Sanctis L, et al.
Clin Genet
. 2024 Nov;
107(3):354-358.
PMID: 39603792
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder linked to haploinsufficiency of CREBBP (RSTS1) and EP300 (RSTS2) genes. Characteristic features often include distinctive facial traits, broad thumbs and...
5.
Van der Sluijs P, Moutton S, Dingemans A, Weis D, Levy M, Boycott K, et al.
Genet Med
. 2024 Oct;
27(1):101283.
PMID: 39355979
Purpose: ARID1A/ARID1B haploinsufficiency leads to Coffin-Siris syndrome, duplications of ARID1A lead to a distinct clinical syndrome, whilst ARID1B duplications have not yet been linked to a phenotype. Methods: We collected...
6.
Verma S, Chapman A, Pickard L, Porplycia D, McConkey H, Jarosz P, et al.
Explor Target Antitumor Ther
. 2024 Oct;
5(5):1100-1109.
PMID: 39351438
Aim: Human epidermal growth factor receptor-2 (HER2) is a well-established prognostic and predictive biomarker. It is an FDA-approved therapeutic target for HER2 positive breast, gastroesophageal, and more recently, lung and...
7.
Man A, Di Scipio M, McConkey H, Hough R, Stein N, Diehl E, et al.
Am J Med Genet A
. 2024 Sep;
197(2):e63864.
PMID: 39324309
Disorders of developmental delay can occur from pathogenic variants in genes responsible for epigenetic regulation. Heterozygous and biallelic pathogenic variants in TET3 have recently been described in TET3-related Beck-Fahrner syndrome...
8.
Haghshenas S, Bout H, Schijns J, Levy M, Kerkhof J, Bhai P, et al.
HGG Adv
. 2024 Sep;
5(4):100337.
PMID: 39306848
No abstract available.
9.
LaFlamme C, Rastin C, Sengupta S, Pennington H, Russ-Hall S, Schneider A, et al.
Nat Commun
. 2024 Aug;
15(1):6524.
PMID: 39107278
Sequence-based genetic testing identifies causative variants in ~ 50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but remain...
10.
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...