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Haley McConkey

Explore the profile of Haley McConkey including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 54
Citations 351
Followers 0
Related Specialties
Genetics
Molecular Biology
Biochemistry
Top 10 Co-Authors
Bekim Sadikovic
Jennifer Kerkhof
Michael A Levy
Raissa Relator
Marielle Alders
Sadegheh Haghshenas
Matthew L Tedder
Siddharth Banka
David Genevieve
Kathleen Rooney
Published In
Genet Med
Am J Hum Genet
HGG Adv
Int J Mol Sci
Eur J Hum Genet
Affiliations
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Recent Articles
21.
Identification of the DNA methylation signature of Mowat-Wilson syndrome
Caraffi S, van der Laan L, Rooney K, Trajkova S, Zuntini R, Relator R, et al.
Eur J Hum Genet . 2024 Feb; 32(6):619-629. PMID: 38351292
Mowat-Wilson syndrome (MOWS) is a rare congenital disease caused by haploinsufficiency of ZEB2, encoding a transcription factor required for neurodevelopment. MOWS is characterized by intellectual disability, epilepsy, typical facial phenotype...
22.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
Ansari M, Faour K, Shimamura A, Grimes G, Kao E, Denhoff E, et al.
HGG Adv . 2024 Feb; 5(2):100273. PMID: 38297832
Heterozygous missense variants and in-frame indels in SMC3 are a cause of Cornelia de Lange syndrome (CdLS), marked by intellectual disability, growth deficiency, and dysmorphism, via an apparent dominant-negative mechanism....
23.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
Kerkhof J, Rastin C, Levy M, Relator R, McConkey H, Demain L, et al.
Genet Med . 2024 Jan; 26(5):101075. PMID: 38251460
Purpose: This study aims to assess the diagnostic utility and provide reporting recommendations for clinical DNA methylation episignature testing based on the cohort of patients tested through the EpiSign Clinical...
24.
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
van der Laan L, Karimi K, Rooney K, Lauffer P, McConkey H, Caro P, et al.
Genet Med . 2023 Dec; 26(3):101050. PMID: 38126281
Purpose: Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder caused by pathogenic variants in USP7. HAFOUS is characterized by developmental delay, intellectual disability, speech delay, behavioral abnormalities, autism spectrum disorder, seizures,...
25.
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene
Karimi K, Mol M, Haghshenas S, Relator R, Levy M, Kerkhof J, et al.
Genet Med . 2023 Dec; 26(3):101041. PMID: 38054406
Purpose: The main objective of this study was to assess clinical features and genome-wide DNA methylation profiles in individuals affected by intellectual developmental disorder, autosomal dominant 21 (IDD21) syndrome, caused...
26.
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance
Marshall A, Liang Y, Couse M, McConkey H, Sadikovic B, Boycott K, et al.
J Hum Genet . 2023 Oct; 69(2):101-105. PMID: 37904029
Partial duplications of genes can be challenging to detect and interpret and, therefore, likely represent an underreported cause of human disease. X-linked dominant variants in ATRX are associated with Alpha-thalassemia/impaired...
27.
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature
LaFlamme C, Rastin C, Sengupta S, Pennington H, Russ-Hall S, Schneider A, et al.
medRxiv . 2023 Oct; PMID: 37873138
Sequence-based genetic testing currently identifies causative genetic variants in ∼50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but...
28.
Identification of a robust DNA methylation signature for Fanconi anemia
Pagliara D, Ciolfi A, Pedace L, Haghshenas S, Ferilli M, Levy M, et al.
Am J Hum Genet . 2023 Oct; 110(11):1938-1949. PMID: 37865086
Fanconi anemia (FA) is a clinically variable and genetically heterogeneous cancer-predisposing disorder representing the most common bone marrow failure syndrome. It is caused by inactivating predominantly biallelic mutations involving >20...
29.
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
Sabbagh Q, Haghshenas S, Piard J, Trouve C, Amiel J, Attie-Bitach T, et al.
Genet Med . 2023 Oct; 26(1):101007. PMID: 37860968
Purpose: BCL11B-related disorder (BCL11B-RD) arises from rare genetic variants within the BCL11B gene, resulting in a distinctive clinical spectrum encompassing syndromic neurodevelopmental disorder, with or without intellectual disability, associated with...
30.
Heterozygous loss-of-function variants are associated with variable and incompletely penetrant growth and developmental features
Ansari M, Faour K, Shimamura A, Grimes G, Kao E, Denhoff E, et al.
medRxiv . 2023 Oct; PMID: 37808847
Heterozygous missense variants and in-frame indels in are a cause of Cornelia de Lange syndrome (CdLS), marked by intellectual disability, growth deficiency, and dysmorphism, via an apparent dominant-negative mechanism. However,...