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발행년	- (예 : 2010-2015)

전체선택

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.

Academic Journal

Banka, Siddharth; Bennington, Abigail; Baker, Martin J; Rijckmans, Ellen; Clemente, Giuliana D; Ansor, Nurhuda Mohamad; Sito, Hilary; Prasad, Pritha; Anyane-Yeboa, Kwame; Badalato, Lauren; Dimitrov, Boyan; Fitzpatrick, David; Hurst, Anna C E; Jansen, Anna C; Kelly, Melissa A; Krantz, Ian; Rieubland, Claudine; Ross, Meredith; Rudy, Natasha L; Sanz, Javier

Brain: A Journal of Neurology. Dec2022, Vol. 145 Issue 12, p4232-4245. 14p.

Full Text (Oxford University Press) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

Abstract 9822: Yield of a Familial Hypercholesterolemia Genetic Diagnosis After Electronic Health Record and Genomic Data Screening

Academic Journal

Gidding, Sam S; Kirchner, H Lester; Brangan, Andrew; HOWARD, WILLIAM; Kelly, Melissa A; Myers, Kelly; Morgan, Kelly; Shuey, Timothy C; Staszak, David; Strande, Natasha T; Walters, Nicole; Yu, Kristen D; Wilemon, Katherine A; Williams, Marc S; Jones, Laney K; Sturm, Amy C

Circulation. Nov 08, 2022 146(Suppl_1 Suppl 1):A9822-A9822

Full Text (LWW Journals - Ovid) Full Text (LWW total - Ovid) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

Leveraging population‐based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.

Academic Journal

Kelly, Melissa A; Leader, Joseph B; Wain, Karen E; Bodian, Dale; Oetjens, Matthew T; Ledbetter, David H; Martin, Christa L; Strande, Natasha T

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Mar2021, Vol. 187 Issue 1, p83-94, 12p

Full Text (Wiley Journals) Web of Science JCR 저널정보 Scopus Find it@PNU

Leveraging population‐based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCoderesearch project

Periodical

Kelly, Melissa A; Leader, Joseph B; Wain, Karen E; Bodian, Dale; Oetjens, Matthew T; Ledbetter, David H; Martin, Christa L; Strande, Natasha T

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics; March 2021, Vol. 187 Issue: 1 p83-94, 12p

Full Text (Wiley Journals) Web of Science JCR 저널정보 Scopus Find it@PNU

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

Periodical

Kelly, Melissa A; Caleshu, Colleen; Morales, Ana; Buchan, Jillian; Wolf, Zena; Harrison, Steven M; Cook, Stuart; Dillon, Mitchell W; Garcia, John; Haverfield, Eden; Jongbloed, Jan D H; Macaya, Daniela; Manrai, Arjun; Orland, Kate; Richard, Gabriele; Spoonamore, Katherine; Thomas, Matthew; Thomson, Kate; Vincent, Lisa M; Walsh, Roddy; Watkins, Hugh; Whiffin, Nicola; Ingles, Jodie; van Tintelen, J Peter; Semsarian, Christopher; Ware, James S; Hershberger, Ray; Funke, Birgit

Genetics in Medicine; March 2018, Vol. 20 Issue: 3 p351-359, 9p

Full Text (ScienceDirect) Full Text (ScienceDirect O/A) Web of Science JCR 저널정보 Scopus Find it@PNU

Abstract 9189: Diagnostic Validity of Genetic Testing for Hypertrophic Cardiomyopathy - A Systematic Review and Meta-Analysis

Periodical

Kelly, Melissa A; Cirino, Allison; Hansen, Brittany P; Harris, Stephanie; Murad, Andrea M; Natoli, Jaime; Malinowski, Jennifer; Christian, Susan

Circulation (Ovid); November 2021, Vol. 144 Issue: Supplement 1 pA9189-A9189, 1p

Full Text (LWW Journals - Ovid) Full Text (LWW total - Ovid) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy

Academic Journal

McLaughlin, Heather M; Kelly, Melissa A; Hawley, Pamela P; Darras, Basil T; Funke, Birgit; Picker, Jonathan

McLaughlin, Heather M, Melissa A Kelly, Pamela P Hawley, Basil T Darras, Birgit Funke, and Jonathan Picker. 2013. “Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.” BMC Medical Genetics 14 (1): 68. doi:10.1186/1471-2350-14-68. http://dx.doi.org/10.1186/1471-2350-14-68.

EBSCOHost PDF Full Text (ProQuest Central) Open Access (BioMed Central) Open Access (DASH) Scopus Find it@PNU

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