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Molecular Syndromology
|
July 11, 2026
Complimentary Episignature Testing for Variant Reclassification: Case Reports with Variant Classification Guideline Consideration
Pratibha Bawa, Jessica Rzasa, Jennifer Kerkhof, et al.
Frontiers in Genetics
|
June 8, 2026
Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report
Inas Al-Younis, Laurence Basque, Nicolas Crapoulet, et al.
Clinical Genetics
|
November 27, 2024
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations
Lisa Pavinato, Silvia Carestiato, Slavica Trajkova, et al.
Clinical Epigenetics
|
April 10, 2026
Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures
Asuman Koparir, Jennifer Kerkhof, Jessica Rzasa, et al.
Clinical Epigenetics
|
June 13, 2026
Correction: Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures
Asuman Koparir, Jennifer Kerkhof, Jessica Rzasa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 22, 2025
Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome
Liselot van der Laan, Raissa Relator, Irene Valenzuela, et al.
Molecular Neurobiology
|
December 15, 2024
EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome
Laura Machado Lara Carvalho, Jessica Rzasa, Jennifer Kerkhof, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 30, 2024
Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses
Jonna M E Männistö, Jasmin J Hopkins, Thomas I Hewat, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
|
November 24, 2025
DNA Methylation Profiling Classifies and Reveals Origin of Gynecologic Central Nervous System-Like Tumors
Lucy Wang, Varshini Vasudevaraja, Jonathan Serrano, et al.
American Journal of Hematology
|
November 17, 2025
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome
Paola Quarello, Karim Karimi, Slavica Trajkova, et al.
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Search research articles
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Showing results (1-10 of 21) with videos related to
Sort By:
Page
of 3
Molecular Syndromology
|
July 11, 2026
Complimentary Episignature Testing for Variant Reclassification: Case Reports with Variant Classification Guideline Consideration
Pratibha Bawa, Jessica Rzasa, Jennifer Kerkhof, et al.
Frontiers in Genetics
|
June 8, 2026
Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report
Inas Al-Younis, Laurence Basque, Nicolas Crapoulet, et al.
Clinical Genetics
|
November 27, 2024
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations
Lisa Pavinato, Silvia Carestiato, Slavica Trajkova, et al.
Clinical Epigenetics
|
April 10, 2026
Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures
Asuman Koparir, Jennifer Kerkhof, Jessica Rzasa, et al.
Clinical Epigenetics
|
June 13, 2026
Correction: Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures
Asuman Koparir, Jennifer Kerkhof, Jessica Rzasa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 22, 2025
Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome
Liselot van der Laan, Raissa Relator, Irene Valenzuela, et al.
Molecular Neurobiology
|
December 15, 2024
EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome
Laura Machado Lara Carvalho, Jessica Rzasa, Jennifer Kerkhof, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 30, 2024
Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses
Jonna M E Männistö, Jasmin J Hopkins, Thomas I Hewat, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
|
November 24, 2025
DNA Methylation Profiling Classifies and Reveals Origin of Gynecologic Central Nervous System-Like Tumors
Lucy Wang, Varshini Vasudevaraja, Jonathan Serrano, et al.
American Journal of Hematology
|
November 17, 2025
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome
Paola Quarello, Karim Karimi, Slavica Trajkova, et al.
Page
of 3