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
11.
Haghshenas S, Karimi K, Stevenson R, Levy M, Relator R, Kerkhof J, et al.
Am J Hum Genet
. 2024 Aug;
111(8):1643-1655.
PMID: 39089258
The term "recurrent constellations of embryonic malformations" (RCEM) is used to describe a number of multiple malformation associations that affect three or more body structures. The causes of these disorders...
12.
Rots D, Bouman A, Yamada A, Levy M, Dingemans A, de Vries B, et al.
Am J Hum Genet
. 2024 Jul;
111(8):1605-1625.
PMID: 39013458
The shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their molecular and phenotypic spectra. Kleefstra syndrome (KLEFS1) is caused by EHMT1...
13.
Sarli C, van der Laan L, Reilly J, Trajkova S, Carli D, Brusco A, et al.
Am J Med Genet C Semin Med Genet
. 2024 Jun;
196(4):e32089.
PMID: 38884529
Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides-Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disability. BIS is caused...
14.
Karayol R, Borroto M, Haghshenas S, Namasivayam A, Reilly J, Levy M, et al.
Am J Hum Genet
. 2024 May;
111(7):1330-1351.
PMID: 38815585
Epigenetic dysregulation has emerged as an important etiological mechanism of neurodevelopmental disorders (NDDs). Pathogenic variation in epigenetic regulators can impair deposition of histone post-translational modifications leading to aberrant spatiotemporal gene...
15.
Vos N, Haghshenas S, van der Laan L, Russel P, Rooney K, Levy M, et al.
Hum Genet
. 2024 May;
143(6):761-773.
PMID: 38787418
Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual disability, behavioral problems, obesity and dysmorphic features. It is caused by pathogenic variants in the PHIP gene that encodes for the...
16.
Trajkova S, Kerkhof J, Rossi Sebastiano M, Pavinato L, Ferrero E, Giovenino C, et al.
HGG Adv
. 2024 May;
5(3):100309.
PMID: 38751117
Analysis of genomic DNA methylation by generating epigenetic signature profiles (episignatures) is increasingly being implemented in genetic diagnosis. Here we report our experience using episignature analysis to resolve both uncomplicated...
17.
Haghshenas S, Bout H, Schijns J, Levy M, Kerkhof J, Bhai P, et al.
HGG Adv
. 2024 Mar;
5(3):100287.
PMID: 38553851
CREB-binding protein (CBP, encoded by CREBBP) and its paralog E1A-associated protein (p300, encoded by EP300) are involved in histone acetylation and transcriptional regulation. Variants that produce a null allele or...
18.
Bouhamdani N, McConkey H, Leblanc A, Sadikovic B, Amor M
Front Genet
. 2024 Mar;
15:1346044.
PMID: 38425714
The lysine methyltransferase 2B (KMT2B) gene product is important for epigenetic modifications associated with active gene transcription in normal development and in maintaining proper neural function. Pathogenic variants in KMT2B...
19.
Perez Baca M, Jacobs E, Vantomme L, LeBlanc P, Bogaert E, Dheedene A, et al.
Am J Hum Genet
. 2024 Feb;
111(3):509-528.
PMID: 38412861
Neurodevelopmental disorders (NDDs) result from impaired development and functioning of the brain. Here, we identify loss-of-function (LoF) variation in ZFHX3 as a cause for syndromic intellectual disability (ID). ZFHX3 is...
20.
Rots D, Rooney K, Relator R, Kerkhof J, McConkey H, Pfundt R, et al.
Clin Genet
. 2024 Feb;
105(6):655-660.
PMID: 38384171
Precise regulation of gene expression is important for correct neurodevelopment. 9q34.3 deletions affecting the EHMT1 gene result in a syndromic neurodevelopmental disorder named Kleefstra syndrome. In contrast, duplications of the...