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1 . Academic Journal
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher.
저자
by
Towne, Meghan C.
;
Rossi, Mari
;
Wayburn, Bess
;
Huang, Jennifer M.
;
Radtke, Kelly
, et al.
소스
Human Mutation; Jun2022, Vol. 43 Issue 6, p772-781, 10p
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7 . Academic Journal
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.
저자
by
Joohyun Park
;
Flores, Bianca R.
;
Scherer, Katalin
;
Kuepper, Hanna
;
Rossi, Mari
, et al.
소스
Journal of Medical Genetics; Apr2020, Vol. 57 Issue 4, p283-288, 6p
Full Text (BMJ Journals)
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7 . Periodical
De novovariants in SLC12A6cause sporadic early-onset progressive sensorimotor neuropathy
저자
by
Park, Joohyun
;
Flores, Bianca R
;
Scherer, Katalin
;
Kuepper, Hanna
;
Rossi, Mari
, et al.
소스
Journal of Medical Genetics (JMG); 2020, Vol. 57 Issue: 4 p283-288, 6p
Full Text (BMJ Journals)
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7 . Academic Journal
SYT1-associated neurodevelopmental disorder: a case series.
저자
by
Baker, Kate
;
Gordon, Sarah L
;
Melland, Holly
;
Bumbak, Fabian
;
Scott, Daniel J
, et al.
소스
Brain: A Journal of Neurology
. Sep2018, Vol. 141 Issue 9, p2576-2591. 16p.
Full Text (OUP)
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7 . Academic Journal
A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses
저자
by
Smith, Erica D.
;
Blanco, Kirsten
;
Sajan, Samin A.
;
Hunter, Jesse M.
;
Shinde, Deepali N.
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 21(10):2199-2207
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7 . Academic Journal
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.
저자
by
Smith, Erica D.
;
Radtke, Kelly
;
Rossi, Mari
;
Shinde, Deepali N.
;
Darabi, Sourat
, et al.
소스
Human Mutation; May2017, Vol. 38 Issue 5, p600-608, 9p
Scopus
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7 . Academic Journal
Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases
저자
by
Farwell Hagman, Kelly D
;
Shinde, Deepali N
;
Mroske, Cameron
;
Smith, Erica
;
Radtke, Kelly
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 20(9):1099-1102
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
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7 . Academic Journal
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy
저자
by
Park, Joohyun
;
Flores, Bianca R.
;
Scherer, Katalin
;
Kuepper, Hanna
;
Rossi, Mari
, et al.
소스
JOURNAL OF MEDICAL GENETICS
; APR 2020, 57 4, p283-p288, 6p.
Full Text (BMJ Journals)
Scopus
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7 . Periodical
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases
저자
by
Farwell Hagman, Kelly D.
;
Shinde, Deepali N.
;
Mroske, Cameron
;
Smith, Erica
;
Radtke, Kelly
, et al.
소스
Genetics in Medicine; February 2017, Vol. 19 Issue: 2 p224-235, 12p
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7 . Academic Journal
Allele-specific regulation of DISC1 expression by miR-135b-5p.
저자
by
Rossi, Mari
;
Kilpinen, Helena
;
Muona, Mikko
;
Surakka, Ida
;
Ingle, Catherine
, et al.
소스
European Journal of Human Genetics
. Jun2014, Vol. 22 Issue 6, p840-843. 4p.
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