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1 . Academic Journal
NullCanada: A novel α1-antitrypsin allele with in cis variants Glu366Lys and Ile100Asn
저자
by
Chen, Sharon
;
DeMarco, Mari L.
;
Estey, Mathew P.
;
Kyle, Barry
;
Parker, Michelle L.
, et al.
소스
In
Clinical Biochemistry
May 2020 79:23-27
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7 . Academic Journal
3. Standardizing recurrent copy number variant classification – From benign to reduced and high penetrance regions
저자
by
Andersen, Erica F.
;
Herriges, John
;
Coe, Bradley
;
Conlin, Laura
;
Goodenberger, McKinsey
, et al.
소스
In
Cancer Genetics
April 2021 252-253 Supplement 1:S1-S2
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7 . Academic Journal
Prevalence of NTRK Fusions in Canadian Solid Tumour Cancer Patients.
저자
by
Silvertown, Joshua D.
;
Lisle, Connie
;
Semenuk, Laura
;
Knapp, Colleen
;
Jaynes, Jillann
, et al.
소스
Molecular Diagnosis & Therapy
. Jan2023, Vol. 27 Issue 1, p87-103. 17p.
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7 . Academic Journal
28. Dosage sensitivity curation of recurrent copy number variant regions
저자
by
Andersen, Erica
;
Burnside, Rachel
;
Coe, Bradley
;
Conlin, Laura
;
Herriges, John
, et al.
소스
In
Cancer Genetics
August 2018 224-225:61-61
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7 . Academic Journal
Neurodevelopmental functioning in probands and non‐proband carriers of 22q11.2 microduplication.
저자
by
Drmic, Irene E.
;
MacKinnon Modi, Bonnie
;
McConnell, Beth
;
Jilderda, Sanne
;
Hoang, Ny
, et al.
소스
American Journal of Medical Genetics. Part A; Oct2022, Vol. 188 Issue 10, p2999-3008, 10p
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7 . Academic Journal
CCMG practice guideline: laboratory guidelines for next-generation sequencing.
저자
by
Hume, Stacey
;
Nelson, Tanya N.
;
Speevak, Marsha
;
McCready, Elizabeth
;
Agatep, Ron
, et al.
소스
Journal of Medical Genetics; Dec2019, Vol. 56 Issue 12, p792-800, 9p
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7 . Academic Journal
Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.
저자
by
Lowther, Chelsea
;
Merico, Daniele
;
Costain, Gregory
;
Waserman, Jack
;
Boyd, Kerry
, et al.
소스
Genome Medicine
. 11/30/2017, Vol. 9, p1-13. 13p. 2 Charts, 1 Graph.
Open Access (BioMed Central)
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7 . Academic Journal
Deletion of 15q11.2(BP1-BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population
저자
by
Hashemi, Bita
;
Bassett, Anne
;
Chitayat, David
;
Chong, Karen
;
Feldman, Mark
, et al.
소스
American Journal Of Medical Genetics - A
. Sep 01, 2015 167(9):2098-2102
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7 . Academic Journal
Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations
저자
by
Lerner-Ellis, Jordan
;
Wang, Marina
;
White, Shana
;
Lebo, Matthew S
;
Agatep, Ron
, et al.
소스
Journal of Medical Genetics
. Jul 01, 2015 52(7):438-445
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7 . Academic Journal
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
저자
by
Lionel, Anath C.
;
Tammimies, Kristiina
;
Vaags, Andrea K.
;
Rosenfeld, Jill A.
;
Ahn, Joo Wook
, et al.
소스
Human Molecular Genetics
. May 15, 2014 23(10):2752-2768
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