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HGG Advances
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May 16, 2024
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
Slavica Trajkova, Jennifer Kerkhof, Matteo Rossi Sebastiano, et al.
Molecular Genetics & Genomic Medicine
|
December 17, 2025
Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses
Yutaka Furuta, Kimberly M Ezell, Rizwan Hamid, et al.
American Journal of Human Genetics
|
August 1, 2024
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations
Sadegheh Haghshenas, Karim Karimi, Roger E Stevenson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 22, 2024
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
Jennifer Kerkhof, Cassandra Rastin, Michael A Levy, et al.
European Journal of Human Genetics : EJHG
|
October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndrome
Karim Karimi, Denisa Weis, Ingvild Aukrust, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 9, 2023
Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental features
Morad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
The Journal of Clinical Investigation
|
June 11, 2026
Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder
Qin Wang, Andrew K Sobering, Christian Tirrito, et al.
HGG Advances
|
February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
Morad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Nature Communications
|
July 1, 2026
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity
Aleš Hnízda, Beatriz Martinez-Delgado, Diana Sanchez-Ponce, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 11, 2026
Clinical, <i>in vitro,</i> and <i>in vivo</i> evidence of <i>WAPL</i> as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder
Philip M Boone, Serkan Erdin, Abucar Mohamed, et al.
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Search research articles
Search
Showing results (11-20 of 21) with videos related to
Sort By:
Page
of 3
HGG Advances
|
May 16, 2024
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
Slavica Trajkova, Jennifer Kerkhof, Matteo Rossi Sebastiano, et al.
Molecular Genetics & Genomic Medicine
|
December 17, 2025
Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses
Yutaka Furuta, Kimberly M Ezell, Rizwan Hamid, et al.
American Journal of Human Genetics
|
August 1, 2024
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations
Sadegheh Haghshenas, Karim Karimi, Roger E Stevenson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 22, 2024
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
Jennifer Kerkhof, Cassandra Rastin, Michael A Levy, et al.
European Journal of Human Genetics : EJHG
|
October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndrome
Karim Karimi, Denisa Weis, Ingvild Aukrust, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 9, 2023
Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental features
Morad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
The Journal of Clinical Investigation
|
June 11, 2026
Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder
Qin Wang, Andrew K Sobering, Christian Tirrito, et al.
HGG Advances
|
February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
Morad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Nature Communications
|
July 1, 2026
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity
Aleš Hnízda, Beatriz Martinez-Delgado, Diana Sanchez-Ponce, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 11, 2026
Clinical, <i>in vitro,</i> and <i>in vivo</i> evidence of <i>WAPL</i> as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder
Philip M Boone, Serkan Erdin, Abucar Mohamed, et al.
Page
of 3