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Expert Review of Molecular Diagnostics
|
August 5, 2023
Clinical validation of a single NGS targeted panel pipeline using the KAPA HyperChoice system for detection of germline, somatic and mitochondrial sequence and copy number variants
Jennifer Kerkhof, Cassandra Rastin, Laila Schenkel, et al.
Frontiers in Cell and Developmental Biology
|
January 2, 2023
Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature
Haley McConkey, Alexandre White-Brown, Jennifer Kerkhof, et al.
Genes
|
August 26, 2022
Examining the Diagnostic Yield of Tumour Testing and Qualifying Germline Concordance for Hereditary Cancer Variants in Patients with High-Grade Serous Carcinoma
Emily A Goebel, Jennifer Kerkhof, Oleksandra Dzyubak, et al.
European Journal of Human Genetics : EJHG
|
September 22, 2023
Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown-Rahman syndrome
Candy Kumps, Erika D'haenens, Jennifer Kerkhof, et al.
Neuromuscular Disorders : NMD
|
December 26, 2022
The discovery of the DNA methylation episignature for Duchenne muscular dystrophy
Leighton Schreyer, Jack Reilly, Haley McConkey, et al.
Journal of Medical Genetics
|
May 8, 2020
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
Michael Volodarsky, Jennifer Kerkhof, Alan Stuart, et al.
European Journal of Human Genetics : EJHG
|
January 25, 2024
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature
Amarens Hoogenboom, Farah A Falix, Liselot van der Laan, et al.
Human Mutation
|
July 4, 2019
Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome
Erfan Aref-Eshghi, Danielle K Bourque, Jennifer Kerkhof, et al.
European Journal of Medical Genetics
|
February 3, 2025
A novel KDM5C variant corrects a previously erroneous diagnosis
Julia Chapin, Bekim Sadikovic, Jennifer Kerkhof, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
May 23, 2020
Bone marrow-derived mitochondrial DNA has limited capacity for inter-tissue transfer in vivo
Mark A Tarnopolsky, Jennifer Kerkhof, Alan Stuart, et al.
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Search research articles
Search
Showing results (1-10 of 111) with videos related to
Sort By:
Page
of 12
Expert Review of Molecular Diagnostics
|
August 5, 2023
Clinical validation of a single NGS targeted panel pipeline using the KAPA HyperChoice system for detection of germline, somatic and mitochondrial sequence and copy number variants
Jennifer Kerkhof, Cassandra Rastin, Laila Schenkel, et al.
Frontiers in Cell and Developmental Biology
|
January 2, 2023
Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature
Haley McConkey, Alexandre White-Brown, Jennifer Kerkhof, et al.
Genes
|
August 26, 2022
Examining the Diagnostic Yield of Tumour Testing and Qualifying Germline Concordance for Hereditary Cancer Variants in Patients with High-Grade Serous Carcinoma
Emily A Goebel, Jennifer Kerkhof, Oleksandra Dzyubak, et al.
European Journal of Human Genetics : EJHG
|
September 22, 2023
Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown-Rahman syndrome
Candy Kumps, Erika D'haenens, Jennifer Kerkhof, et al.
Neuromuscular Disorders : NMD
|
December 26, 2022
The discovery of the DNA methylation episignature for Duchenne muscular dystrophy
Leighton Schreyer, Jack Reilly, Haley McConkey, et al.
Journal of Medical Genetics
|
May 8, 2020
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
Michael Volodarsky, Jennifer Kerkhof, Alan Stuart, et al.
European Journal of Human Genetics : EJHG
|
January 25, 2024
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature
Amarens Hoogenboom, Farah A Falix, Liselot van der Laan, et al.
Human Mutation
|
July 4, 2019
Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome
Erfan Aref-Eshghi, Danielle K Bourque, Jennifer Kerkhof, et al.
European Journal of Medical Genetics
|
February 3, 2025
A novel KDM5C variant corrects a previously erroneous diagnosis
Julia Chapin, Bekim Sadikovic, Jennifer Kerkhof, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
May 23, 2020
Bone marrow-derived mitochondrial DNA has limited capacity for inter-tissue transfer in vivo
Mark A Tarnopolsky, Jennifer Kerkhof, Alan Stuart, et al.
Page
of 12