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1 . Academic Journal
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
저자
by
Lemire, Gabrielle
;
Sanchis-Juan, Alba
;
Russell, Kathryn
;
Baxter, Samantha
;
Chao, Katherine R.
, et al.
소스
In
The American Journal of Human Genetics
2 May 2024 111(5):863-876
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7 . Academic Journal
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
저자
by
Marchant, Rhett G.
;
Bryen, Samantha J.
;
Bahlo, Melanie
;
Cairns, Anita
;
Chao, Katherine R.
, et al.
소스
Annals of Clinical & Translational Neurology
. Mar2024, p1. 17p. 5 Illustrations, 1 Chart.
Open Access (Wiley)
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7 . Academic Journal
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
저자
by
Akula, Shyam K.
;
Chen, Allen Y.
;
Neil, Jennifer E.
;
Shao, Diane D.
;
Mo, Alisa
, et al.
소스
JAMA Neurology; Sep2023, Vol. 80 Issue 9, p980-988, 9p
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7 . Academic Journal
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
저자
by
Nascimento, Andres
;
Bruels, Christine C.
;
Donkervoort, Sandra
;
Foley, A. Reghan
;
Codina, Anna
, et al.
소스
Acta Neuropathologica
. Apr2023, Vol. 145 Issue 4, p479-496. 18p.
Web of Science
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7 . Academic Journal
Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy.
저자
by
Bruels, Christine C.
;
Littel, Hannah R.
;
Daugherty, Audrey L.
;
Stafki, Seth
;
Estrella, Elicia A.
, et al.
소스
Annals of Clinical & Translational Neurology
. Aug2022, Vol. 9 Issue 8, p1302-1309. 8p.
Open Access (Wiley)
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7 . Academic Journal
A form of muscular dystrophy associated with pathogenic variants in JAG2.
저자
by
Coppens, Sandra
;
Barnard, Alison M.
;
Puusepp, Sanna
;
Pajusalu, Sander
;
Õunap, Katrin
, et al.
소스
American Journal of Human Genetics
. May2021, Vol. 108 Issue 5, p840-856. 17p.
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7 . Academic Journal
Fatal Case of Chronic Jamestown Canyon Virus Encephalitis Diagnosed by Metagenomic Sequencing in Patient Receiving Rituximab.
저자
by
Solomon, Isaac H.
;
Ganesh, Vijay S.
;
Guixia Yu
;
Xian Ding Deng
;
Wilson, Michael R.
, et al.
소스
Emerging Infectious Diseases
. Jan2021, Vol. 27 Issue 1, p238-242. 5p.
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7 .
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
저자
by
Donkervoort, Sandra
;
Krause, Niklas
;
Dergai, Mykola
;
Yun, Pomi
;
Koliwer, Judith
, et al.
소스
EMBO Molecular Medicine
EMBO Molecular Medicine, Wiley Open Access, 2021, 13 (12), ⟨10.15252/emmm.202013787⟩
EMBO Molecular Medicine, Vol 13, Iss 12, Pp n/a-n/a (2021)
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7 . Academic Journal
The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles
저자
by
Coulter, Michael E.
;
Dorobantu, Cristina M.
;
Lodewijk, Gerrald A.
;
Delalande, Francois
;
Cianferani, Sarah
, et al.
소스
CELL REPORTS
; JUL 24 2018, 24 4, p973-p+, 22p.
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7 . Academic Journal
Genomic and functional profiling of human Down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury
저자
by
Esposito, Giuseppe
;
Imitola, Jaime
;
Lu, Jie
;
De Filippis, Daniele
;
Scuderi, Caterina
, et al.
소스
Human Molecular Genetics
. Feb 01, 2008 17(3):440-457
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