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1 . Academic Journal
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes
저자
by
Vos, Niels
;
Haghshenas, Sadegheh
;
van der Laan, Liselot
;
Russel, Perle K. M.
;
Rooney, Kathleen
, et al.
소스
Human Genetics
. :1-13
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7 . Academic Journal
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
저자
by
van der Laan, Liselot
;
Karimi, Karim
;
Rooney, Kathleen
;
Lauffer, Peter
;
McConkey, Haley
, et al.
소스
In
Genetics in Medicine
March 2024 26(3)
Full Text (ScienceDirect)
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7 . Academic Journal
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
저자
by
Rooney, Kathleen
;
van der Laan, Liselot
;
Trajkova, Slavica
;
Haghshenas, Sadegheh
;
Relator, Raissa
, et al.
소스
In
Genetics in Medicine
August 2023 25(8)
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7 . Academic Journal
Aberrant PRDM2 methylation as an early event in serrated lesions destined to evolve into microsatellite‐instable colorectal cancers
저자
by
David EFWM vanToledo
;
Arne GC Bleijenberg
;
Andrea Venema
;
Mireille J deWit
;
Susanne vanEeden
, et al.
소스
The Journal of Pathology: Clinical Research, Vol 10, Iss 2, Pp n/a-n/a (2024)
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7 . Academic Journal
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
저자
by
Kerkhof, Jennifer
;
Rastin, Cassandra
;
Levy, Michael A.
;
Relator, Raissa
;
McConkey, Haley
, et al.
소스
In
Genetics in Medicine
May 2024 26(5)
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7 . Academic Journal
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands
저자
by
Olde Keizer, Richelle A. C. M.
;
Marouane, Abderrahim
;
Kerstjens-Frederikse, Wilhelmina S.
;
Deden, A. Chantal
;
Lichtenbelt, Klaske D.
, et al.
소스
European Journal of Pediatrics
. 182(6):2683-2692
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7 . Academic Journal
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
저자
by
Agrawal, Pankaj
;
Armstrong Scott, Daryl
;
Barkoudah, Elizabeth
;
Bellini, Melissa
;
Beneteau, Claire
, et al.
소스
In
The American Journal of Human Genetics
7 March 2024 111(3):509-528
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7 . Academic Journal
Novel DNA methylome biomarkers associated with adalimumab response in rheumatoid arthritis patients
저자
by
Ishtu Hageman
;
Femke Mol
;
Sadaf Atiqi
;
Vincent Joustra
;
Hilal Sengul
, et al.
소스
Frontiers in Immunology, Vol 14 (2023)
Open Access (DOAJ)
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7 . Academic Journal
Faecal Microbiota transplantation affects liver DNA methylation in Non-alcoholic fatty liver disease: a multi-omics approach
저자
by
Daniela Stols-Gonçalves
;
Anne Linde Mak
;
Mette S. Madsen
;
Eduard W. J. van der Vossen
;
Eveline Bruinstroop
, et al.
소스
Gut Microbes, Vol 15, Iss 1 (2023)
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7 . Academic Journal
Long-term Temporal Stability of Peripheral Blood DNA Methylation Profiles in Patients With Inflammatory Bowel DiseaseSummary
저자
by
Vincent Joustra
;
Andrew Y.F. Li Yim
;
Ishtu Hageman
;
Evgeni Levin
;
Alex Adams
, et al.
소스
Cellular and Molecular Gastroenterology and Hepatology, Vol 15, Iss 4, Pp 869-885 (2023)
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