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1.

The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy.

Giles, Hunter H; Hegde, Madhuri R; Lyon, Elaine; Stanley, Christine M; Kerr, Iain D; Garlapow, Megan E; Eggington, Julie M.

Annu Rev Genomics Hum Genet ; 22: 285-307, 2021 08 31.

Artículo en Inglés | MEDLINE | ID: mdl-33900788

2.

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.

McCormick, Elizabeth M; Lott, Marie T; Dulik, Matthew C; Shen, Lishuang; Attimonelli, Marcella; Vitale, Ornella; Karaa, Amel; Bai, Renkui; Pineda-Alvarez, Daniel E; Singh, Larry N; Stanley, Christine M; Wong, Stacey; Bhardwaj, Anshu; Merkurjev, Daria; Mao, Rong; Sondheimer, Neal; Zhang, Shiping; Procaccio, Vincent; Wallace, Douglas C; Gai, Xiaowu; Falk, Marni J.

Hum Mutat ; 41(12): 2028-2057, 2020 12.

Artículo en Inglés | MEDLINE | ID: mdl-32906214

3.

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.

Heyne, Henrike O; Artomov, Mykyta; Battke, Florian; Bianchini, Claudia; Smith, Douglas R; Liebmann, Nora; Tadigotla, Vasisht; Stanley, Christine M; Lal, Dennis; Rehm, Heidi; Lerche, Holger; Daly, Mark J; Helbig, Ingo; Biskup, Saskia; Weber, Yvonne G; Lemke, Johannes R.

Genet Med ; 21(11): 2496-2503, 2019 11.

Artículo en Inglés | MEDLINE | ID: mdl-31056551

4.

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Metz, Kyle A; Teng, Xinchen; Coppens, Isabelle; Lamb, Heather M; Wagner, Bart E; Rosenfeld, Jill A; Chen, Xianghui; Zhang, Yu; Kim, Hee Jong; Meadow, Michael E; Wang, Tim Sen; Haberlandt, Edda D; Anderson, Glenn W; Leshinsky-Silver, Esther; Bi, Weimin; Markello, Thomas C; Pratt, Marsha; Makhseed, Nawal; Garnica, Adolfo; Danylchuk, Noelle R; Burrow, Thomas A; Jayakar, Parul; McKnight, Dianalee; Agadi, Satish; Gbedawo, Hatha; Stanley, Christine; Alber, Michael; Prehl, Isabelle; Peariso, Katrina; Ong, Min Tsui; Mordekar, Santosh R; Parker, Michael J; Crooks, Daniel; Agrawal, Pankaj B; Berry, Gerard T; Loddenkemper, Tobias; Yang, Yaping; Maegawa, Gustavo H B; Aouacheria, Abdel; Markle, Janet G; Wohlschlegel, James A; Hartman, Adam L; Hardwick, J Marie.

Ann Neurol ; 84(5): 766-780, 2018 11.

Artículo en Inglés | MEDLINE | ID: mdl-30295347

5.

Clinically relevant variants - identifying, collecting, interpreting, and disseminating: the 2013 annual scientific meeting of the Human Genome Variation Society.

Stanley, Christine M; Sunyaev, Shamil R; Greenblatt, Marc S; Oetting, William S.

Hum Mutat ; 35(4): 505-10, 2014 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-24470180

6.

Mody-3: novel HNF1A mutation and the utility of glucagon-like peptide (GLP)-1 receptor agonist therapy.

Docena, Maricor K; Faiman, Charles; Stanley, Christine M; Pantalone, Kevin M.

Endocr Pract ; 20(2): 107-11, 2014 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-24014008

7.

ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing.

Kaplun, Ludmila; Krautz-Peterson, Greice; Neerman, Nir; Stanley, Christine; Hussey, Shane; Folwick, Margo; McGarry, Ava; Weiss, Shirel; Kaplun, Alexander.

Front Genet ; 14: 1145285, 2023.

Artículo en Inglés | MEDLINE | ID: mdl-37152986

8.

Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS.

Eskuri, Jamie M; Stanley, Christine M; Moore, Steven A; Mathews, Katherine D.

J Peripher Nerv Syst ; 17(1): 132-4, 2012 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-22462675

9.

Clinical characterization of bvFTD due to FUS neuropathology.

Lee, Suzee E; Seeley, William W; Poorzand, Pardis; Rademakers, Rosa; Karydas, Anna; Stanley, Christine M; Miller, Bruce L; Rankin, Katherine P.

Neurocase ; 18(4): 305-17, 2012.

Artículo en Inglés | MEDLINE | ID: mdl-22060063

10.

Interpersonal traits change as a function of disease type and severity in degenerative brain diseases.

Sollberger, Marc; Neuhaus, John; Ketelle, Robin; Stanley, Christine M; Beckman, Victoria; Growdon, Matthew; Jang, Jung; Miller, Bruce L; Rankin, Katherine P.

J Neurol Neurosurg Psychiatry ; 82(7): 732-9, 2011 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-21172858

11.

Detecting sarcasm from paralinguistic cues: anatomic and cognitive correlates in neurodegenerative disease.

Rankin, Katherine P; Salazar, Andrea; Gorno-Tempini, Maria Luisa; Sollberger, Marc; Wilson, Stephen M; Pavlic, Danijela; Stanley, Christine M; Glenn, Shenly; Weiner, Michael W; Miller, Bruce L.

Neuroimage ; 47(4): 2005-15, 2009 Oct 01.

Artículo en Inglés | MEDLINE | ID: mdl-19501175

12.

Adherence to the Mediterranean diet is associated with a lower risk of body-shape changes in Croatian patients treated with combination antiretroviral therapy.

Turcinov, Drago; Stanley, Christine; Rutherford, George W; Novotny, Thomas E; Begovac, Josip.

Eur J Epidemiol ; 24(5): 267-74, 2009.

Artículo en Inglés | MEDLINE | ID: mdl-19322667

13.

Dyslipidemia and adherence to the Mediterranean diet in Croatian HIV-infected patients during the first year of highly active antiretroviral therapy.

Turcinov, Drago; Stanley, Christine; Canchola, Jesse A; Rutherford, George W; Novotny, Thomas E; Begovac, Josip.

Coll Antropol ; 33(2): 423-30, 2009 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-19662759

14.

Extrastriate body area in human occipital cortex responds to the performance of motor actions.

Astafiev, Serguei V; Stanley, Christine M; Shulman, Gordon L; Corbetta, Maurizio.

Nat Neurosci ; 7(5): 542-8, 2004 May.

Artículo en Inglés | MEDLINE | ID: mdl-15107859

15.

Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.

Kalsner, Louisa; Twachtman-Bassett, Jennifer; Tokarski, Kristin; Stanley, Christine; Dumont-Mathieu, Thyde; Cotney, Justin; Chamberlain, Stormy.

Mol Genet Genomic Med ; 6(2): 171-185, 2018 03.

Artículo en Inglés | MEDLINE | ID: mdl-29271092

16.

Structural anatomy of empathy in neurodegenerative disease.

Rankin, Katherine P; Gorno-Tempini, Maria Luisa; Allison, Stephen C; Stanley, Christine M; Glenn, Shenly; Weiner, Michael W; Miller, Bruce L.

Brain ; 129(Pt 11): 2945-56, 2006 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-17008334

17.

Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans.

Smith, Douglas R; Stanley, Christine M; Foss, Theodore; Boles, Richard G; McKernan, Kevin.

PLoS One ; 12(11): e0187926, 2017.

Artículo en Inglés | MEDLINE | ID: mdl-29145497

18.

Frustrated at changed EN scope.

Stanley, Christine.

Nurs N Z ; 17(11): 3-4; discussion 4, 2011.

Artículo en Inglés | MEDLINE | ID: mdl-22283047

19.

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Balestrini, Simona; Milh, Mathieu; Castiglioni, Claudia; Lüthy, Kevin; Finelli, Mattea J; Verstreken, Patrik; Cardon, Aaron; Strazisar, Barbara Gnidovec; Holder, J Lloyd; Lesca, Gaetan; Mancardi, Maria M; Poulat, Anne L; Repetto, Gabriela M; Banka, Siddharth; Bilo, Leonilda; Birkeland, Laura E; Bosch, Friedrich; Brockmann, Knut; Cross, J Helen; Doummar, Diane; Félix, Temis M; Giuliano, Fabienne; Hori, Mutsuki; Hüning, Irina; Kayserili, Hulia; Kini, Usha; Lees, Melissa M; Meenakshi, Girish; Mewasingh, Leena; Pagnamenta, Alistair T; Peluso, Silvio; Mey, Antje; Rice, Gregory M; Rosenfeld, Jill A; Taylor, Jenny C; Troester, Matthew M; Stanley, Christine M; Ville, Dorothee; Walkiewicz, Magdalena; Falace, Antonio; Fassio, Anna; Lemke, Johannes R; Biskup, Saskia; Tardif, Jessica; Ajeawung, Norbert F; Tolun, Aslihan; Corbett, Mark; Gecz, Jozef; Afawi, Zaid; Howell, Katherine B.

Neurology ; 87(1): 77-85, 2016 07 05.

Artículo en Inglés | MEDLINE | ID: mdl-27281533

20.

Functional organization of human intraparietal and frontal cortex for attending, looking, and pointing.

Astafiev, Serguei V; Shulman, Gordon L; Stanley, Christine M; Snyder, Abraham Z; Van Essen, David C; Corbetta, Maurizio.

J Neurosci ; 23(11): 4689-99, 2003 Jun 01.

Artículo en Inglés | MEDLINE | ID: mdl-12805308

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