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1 . Academic Journal
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
저자
by
Sissy Bassani
;
Jacqueline Chrast
;
Giovanna Ambrosini
;
Norine Voisin
;
Frédéric Schütz
, et al.
소스
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
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7 . Academic Journal
P398: A rare report of a child with mosaic trisomy 4
저자
by
Lauren Bartik
;
Elena Repnikova
;
Eric Rush
;
Jennifer Roberts
;
Erin Baldwin
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101292- (2024)
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7 . Academic Journal
O20: Beyond the genome: RNA sequencing resolves unique diagnostic challenges
저자
by
Robert Lewis
;
Makenzie Fulmer
;
Jian Zhao
;
Lucilla Pizzo
;
Ting Wen
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101470- (2024)
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7 . Academic Journal
Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies
저자
by
Michael J. Cormier
;
Brent S. Pedersen
;
Pinar Bayrak-Toydemir
;
Aaron R. Quinlan
.
소스
BMC Bioinformatics, Vol 23, Iss 1, Pp 1-32 (2022)
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6 . Academic Journal
P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care
저자
by
Sabrina Malone-Jenkins
;
Brian Shayota
;
Chelsea Solorzano
;
Rachel Palmquist
;
Steven Boyden
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100271- (2023)
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7 . Academic Journal
O31: Risk allele evidence curation, classification, and reporting: Recommendations from the ClinGen Low Penetrance/Risk Allele Working Group
저자
by
Matthew Lebo
;
Marcie Steeves
;
Katherine Benson
;
Laura Conlin
;
Mythily Ganapathi
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100457- (2023)
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7 . Academic Journal
P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy
저자
by
Makenzie Fulmer
;
Matt Velinder
;
Ashley Andrews
;
Russell Butterfield
;
Rong Mao
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100509- (2023)
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7 . Academic Journal
P499: RNA-sequencing positional gene enrichment is a useful tool in resolving cases of X chromosome copy number variation
저자
by
Robert Lewis
;
David Viskochil
;
Ashley Andrews
;
Karin Dent
;
Rong Mao
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100546- (2023)
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7 . Academic Journal
P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2
저자
by
Barry Moore
;
Thomas Nicholas
;
Rong Mao
;
Brian Shayota
;
Steven Boyden
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100563- (2023)
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7 . Academic Journal
P524: Novel variants in EFL1 lead to a potential diagnosis of Shwachman-Diamond syndrome 2
저자
by
John O'Shea
;
Jian Zhao
;
Pinar Bayrak-Toydemir
;
David Viskochil
;
Ashley Andrews
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100571- (2023)
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