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1 . Academic Journal
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
저자
by
Sarah L. Stenton
;
Melanie C. O’Leary
;
Gabrielle Lemire
;
Grace E. VanNoy
;
Stephanie DiTroia
, et al.
소스
Human Genomics, Vol 18, Iss 1, Pp 1-25 (2024)
Open Access (BioMed Central)
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Web of Science
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7 . Academic Journal
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report
저자
by
Chrystal F. Mavros
;
Catherine A. Brownstein
;
Roshni Thyagrajan
;
Casie A. Genetti
;
Sahil Tembulkar
, et al.
소스
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
Open Access (BioMed Central)
Open Access (DOAJ)
Scopus
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7 .
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly
저자
by
Margaux Serey-Gaut
;
Marisol Cortes
;
Periklis Makrythanasis
;
Mohnish Suri
;
Alexander M.R. Taylor
, et al.
소스
The American Journal of Human Genetics
. 110:499-515
Full Text (ScienceDirect O/A)
Web of Science
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7 .
Centers for Mendelian Genomics: A decade of facilitating gene discovery
저자
by
Samantha M. Baxter
;
Jennifer E. Posey
;
Nicole J. Lake
;
Nara Sobreira
;
Jessica X. Chong
, et al.
소스
Genet Med
Full Text (ScienceDirect O/A)
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7 .
Emerging roles and opportunities for rare disease patient advocacy groups
저자
by
Amy M. Patterson
;
Megan O’Boyle
;
Grace E. VanNoy
;
Kira A. Dies
.
소스
Therapeutic Advances in Rare Disease
. 4:263300402311644
Full Text (Sage OA)
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6 .
Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia
저자
by
Lauren Brady
;
Bryan E. Hainline
;
Konrad Platzer
;
Muhammad Zafar
;
Corinna Powell
, et al.
소스
Genetics in medicine : official journal of the American College of Medical Genetics
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
Open Access (OpenAIRE)
Web of Science
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7 .
seqr: A web-based analysis and collaboration tool for rare disease genomics
저자
by
Lynn S. Pais
;
Hana Snow
;
Ben Weisburd
;
Shifa Zhang
;
Samantha M. Baxter
, et al.
소스
Hum Mutat
Open Access (OpenAIRE)
Scopus
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7 .
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating
저자
by
Claudia Schob
;
Heidi L. Rehm
;
Johannes R. Lemke
;
Brianna Pruniski
;
Yongqiang Zhang
, et al.
소스
Human Molecular Genetics, 30(23), 2300-2314. OXFORD UNIV PRESS
Hum Mol Genet
Open Access (OpenAIRE)
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7 .
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
저자
by
Yoel Gofin
;
Tianyun Wang
;
Madelyn A. Gillentine
;
Tiana M. Scott
;
Aliska M. Berry
, et al.
소스
Hum Mutat
Open Access (OpenAIRE)
Scopus
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7 .
seqr : a web-based analysis and collaboration tool for rare disease genomics
저자
by
Samantha Baxter
;
Daniel G. MacArthur
;
Shifa Zhang
;
Ikeoluwa Osei-Owusu
;
Lawrence J. Babb
, et al.
소스
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