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1 . Academic Journal
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes
저자
by
Viktoria Gusarova
;
Colm O’Dushlaine
;
Tanya M. Teslovich
;
Peter N. Benotti
;
Tooraj Mirshahi
, et al.
소스
Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses
저자
by
Karen E. Wain
;
Kasia Tolwinski
;
Emily Palen
;
Alexis R. Heidlebaugh
;
Karahlyn Holdren
, et al.
소스
Journal of Personalized Medicine, Vol 11, Iss 5, p 365 (2021)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
The struggle to find reliable results in exome sequencing data: Filtering out Mendelian errors
저자
by
Zubin Hasmukh Patel
;
Leah Claire Kottyan
;
Sara eLazaro
;
Marc S. Williams
;
David H. Ledbetter
, et al.
소스
Frontiers in Genetics, Vol 5 (2014)
Open Access (DOAJ)
Web of Science
Scopus
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7 .
Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines
저자
by
Pedro J. Gonzalez-Mantilla
;
Yirui Hu
;
Scott M. Myers
;
Brenda M. Finucane
;
David H. Ledbetter
, et al.
소스
JAMA Pediatrics
. 177:472
Full Text (AMA)
Web of Science
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7 .
Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome
저자
by
Cora M. Taylor
;
Brenda M. Finucane
;
Andres Moreno-De-Luca
;
Lauren K. Walsh
;
Christa Lese Martin
, et al.
소스
Genetics in medicine : official journal of the American College of Medical Genetics
. 25(1)
Full Text (ScienceDirect)
Scopus
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7 .
Frequency of Truncating FLCN Variants and Birt-Hogg-Dubé-Associated Phenotypes in a Healthcare System Population
저자
by
Juliann M. Savatt
;
Hermela Shimelis
;
Andres Moreno-De-Luca
;
Natasha T. Strande
;
Matthew T. Oetjens
, et al.
소스
Genet Med
Open Access (OpenAIRE)
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7 .
Letter to the editor
저자
by
Brenda Finucane
;
Scott M. Myers
;
Thomas D. Challman
;
Christa Lese Martin
;
David H. Ledbetter
.
소스
Autism Research
. 16:678-678
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7 .
Frequency of FLCN Loss of Function Variants and Birt-Hogg-Dubé-Associated Phenotypes in a Healthcare System Population
저자
by
Juliann M. Savatt
;
Hermela Shimelis
;
Andres Moreno-De-Luca
;
Natasha T. Strande
;
Matthew T. Oetjens
, et al.
소스
Open Access (OpenAIRE)
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7 .
Long overdue: including adults with brain disorders in precision health initiatives
저자
by
Scott M. Myers
;
Brenda Finucane
;
David H. Ledbetter
;
Christa Lese Martin
.
소스
Curr Opin Genet Dev
Full Text (Clinical Key)
Open Access (OpenAIRE)
Web of Science
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6 .
Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism
저자
by
Alexander S. F. Berry
;
Brenda M. Finucane
;
Scott M. Myers
;
Angela Abril
;
H. Lester Kirchner
, et al.
소스
JAMA
. 329:235
Full Text (AMA)
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