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1 . Academic Journal
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement
저자
by
Christy W. LaFlamme
;
Cassandra Rastin
;
Soham Sengupta
;
Helen E. Pennington
;
Sophie J. Russ-Hall
, et al.
소스
Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)
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7 . Academic Journal
Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory
저자
by
Pratibha Bhai
;
Jacob Turowec
;
Stephanie Santos
;
Jennifer Kerkhof
;
LeeAnne Pickard
, et al.
소스
Frontiers in Oncology, Vol 13 (2023)
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7 . Academic Journal
Mutational Landscape of Patients Referred for Elevated Hemoglobin Level
저자
by
Pratibha Bhai
;
Benjamin Chin-Yee
;
Victor Pope
;
Ian Cheong
;
Maxim Matyashin
, et al.
소스
Current Oncology, Vol 29, Iss 10, Pp 7209-7217 (2022)
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7 . Academic Journal
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature
저자
by
Liselot van der Laan
;
Kathleen Rooney
;
Sadegheh Haghshenas
;
Ananília Silva
;
Haley McConkey
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 18, p 14240 (2023)
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7 . Academic Journal
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
저자
by
Michael A. Levy
;
David B. Beck
;
Kay Metcalfe
;
Sofia Douzgou
;
Sivagamy Sithambaram
, et al.
소스
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-15 (2021)
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7 . Academic Journal
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
저자
by
Michael A. Levy
;
Haley McConkey
;
Jennifer Kerkhof
;
Mouna Barat-Houari
;
Sara Bargiacchi
, et al.
소스
HGG Advances, Vol 3, Iss 1, Pp 100075- (2022)
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7 . Academic Journal
Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome
저자
by
Liselot van der Laan
;
Kathleen Rooney
;
Mariëlle Alders
;
Raissa Relator
;
Haley McConkey
, et al.
소스
International Journal of Molecular Sciences, Vol 23, Iss 22, p 13664 (2022)
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7 . Academic Journal
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach
저자
by
Pratibha Bhai
;
Michael A. Levy
;
Kathleen Rooney
;
Deanna Alexis Carere
;
Jack Reilly
, et al.
소스
Frontiers in Genetics, Vol 12 (2021)
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7 . Academic Journal
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome
저자
by
Eline A. Verberne
;
Liselot van der Laan
;
Sadegheh Haghshenas
;
Kathleen Rooney
;
Michael A. Levy
, et al.
소스
International Journal of Molecular Sciences, Vol 23, Iss 14, p 8001 (2022)
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7 . Academic Journal
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
저자
by
Eric G. Bend
;
Erfan Aref-Eshghi
;
David B. Everman
;
R. Curtis Rogers
;
Sara S. Cathey
, et al.
소스
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-17 (2019)
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