Works matching DE "AMERICAN College of Medical Genetics"

Results: 55

Genetics in a Danish Common Variable Immunodeficiency Cohort.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-025-01896-w

By:

Drabe, Camilla Heldbjerg;
Laustsen, Mira Marie;
Marquart, Hanne Vibeke;
Hartling, Hans Jakob;
Marvig, Rasmus L.;
Helweg-Larsen, Jannik;
Hansen, Ann-Brit Eg;
Lundgren, Jens;
Helleberg, Marie;
Borgwardt, Line;
Katzenstein, Terese L.

Publication type:

Article

Challenges in the Use of Direct-to-Consumer Personal Genome Testing in Children.

Published in:

American Journal of Bioethics, 2009, v. 9, n. 6/7, p. 32, doi. 10.1080/15265160902893916

By:

Tabor, HollyK.;
Kelley, Maureen

Publication type:

Article

High throughput exome coverage of clinically relevant cardiac genes.

Published in:

BMC Medical Genomics, 2014, v. 7, n. 1, p. 69, doi. 10.1186/s12920-014-0067-8

By:

Manase, Dorin;
D'Alessandro, Lisa C. A.;
Kumar Manickaraj, Ashok;
Al Turki, Saeed;
Hurles, Matthew E.;
Mital, Seema

Publication type:

Article

Analytical validation of whole exome and whole genome sequencing for clinical applications.

Published in:

BMC Medical Genomics, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8794-7-20

By:

Linderman, Michael D.;
Brandt, Tracy;
Edelmann, Lisa;
Jabado, Omar;
Yumi Kasai;
Kornreich, Ruth;
Mahajan, Milind;
Shah, Hardik;
Kasarskis, Andrew;
Schadt, Eric E.

Publication type:

Article

Biomedical briefing.

Published in:: Nature Medicine, 2013, v. 19, n. 5, p. 522, doi. 10.1038/nm0513-522
Publication type:: Article

Touching base.

Published in:

Nature Genetics, 2007, v. 39, n. 8, p. 941, doi. 10.1038/ng0807-941

By:

Bahcall, Orli;
Niemitz, Emily;
Vogan, Kyle

Publication type:

Article

Touching base.

Published in:

Nature Genetics, 2006, v. 38, n. 6, p. 613, doi. 10.1038/ng0606-613

By:

Axton, Myles;
Niemitz, Emily

Publication type:

Article

Incidental findings and future testing methodologies: potential application of the ACMG 2013 recommendations.

Published in:

Journal of Law & the Biosciences, 2014, v. 1, n. 3, p. 378, doi. 10.1093/jlb/lsu028

By:

Richardson, Anastasia

Publication type:

Article

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.

Published in:

Thyroid, 2017, v. 27, n. 12, p. 1511, doi. 10.1089/thy.2016.0399

By:

Lebeault, Maylis;
Pinson, Stéphane;
Guillaud-Bataille, Marine;
Gimenez-Roqueplo, Anne-Paule;
Carrie, Alain;
Barbu, Véronique;
Pigny, Pascal;
Bezieau, Stéphane;
Rey, Jean-Marc;
Delvincourt, Chantal;
Giraud, Sophie;
Veyrat-Durebex, Charlotte;
Saulnier, Patrick;
Bouzamondo, Nathalie;
Chabbert, Marie;
Blin, Julien;
Mohamed, Amira;
Romanet, Pauline;
Borson-Chazot, Francoise;
Rohmer, Vincent

Publication type:

Article

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Published in:

PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0135193

By:

Olfson, Emily;
Cottrell, Catherine E.;
Davidson, Nicholas O.;
Gurnett, Christina A.;
Heusel, Jonathan W.;
Stitziel, Nathan O.;
Chen, Li-Shiun;
Hartz, Sarah;
Nagarajan, Rakesh;
Saccone, Nancy L.;
Bierut, Laura J.

Publication type:

Article

A Novel WRN Frameshift Mutation Identified by Multiplex Genetic Testing in a Family with Multiple Cases of Cancer.

Published in:

PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0133020

By:

Yang, Liu;
Wang, Guosheng;
Zhao, Xinyi;
Ye, Song;
Shen, Peng;
Wang, Weilin;
Zheng, Shusen

Publication type:

Article

Requiring genetic knowledge: a principled case for support.

Published in:

Legal Studies, 2015, v. 35, n. 3, p. 532, doi. 10.1111/lest.12080

By:

Chico, Victoria

Publication type:

Article

Newborn screening tests in the 21st century: What PAs need to know.

Published in:

JAAPA: Journal of the American Academy of Physician Assistants (Haymarket Media, Inc.), 2010, v. 23, n. 4, p. 30, doi. 10.1097/01720610-201004000-00005

By:

DelRosario, Genevieve;
Gottesman, Gary S.

Publication type:

Article

Genotype--phenotype correlations in THAP1 dystonia in six Indian patients.

Published in:

2022

By:

Saini, Arti;
Mewara, Rahul;
Verma, Bhawna;
Scaria, Vinod;
B. K., Binukumar;
Singh, Inder;
Gupta, Anu;
V. Y., Vishnu;
Singh, Mamta B.;
Bhatia, Rohit;
Srivastava, M. V. Padma;
Srivastava, Achal K.;
Rajan, Roopa

Publication type:

Abstract

Diagnosis of Fetal Anomaly and the Increased Maternal Psychological Toll Associated with Pregnancy Termination.

Published in:

Issues in Law & Medicine, 2015, v. 30, n. 1, p. 3

By:

Coleman, Priscilla K.

Publication type:

Article

Reporting Genomic Sequencing Results to Ordering Clinicians Incidental, but Not Exceptional.

Published in:

2013

By:

Green, Roberte C.;
Lupski, James R.;
Biesecker, Leslie G.

Publication type:

Opinion

Return of Secondary Genomic Findings vs Patient Autonomy Implications for Medical Care.

Published in:

2013

By:

Klitzman, Robert;
Appelbaum, Paul S.;
Chung, Wendy

Publication type:

Opinion

Mandatory Extended Searches in All Genome Sequencing "Incidental Findings," Patient Autonomy, and Shared Decision Making.

Published in:

2013

By:

Ross, Lainie Friedman;
Rothstein, Mark A.;
Clayton, Ellen Wright

Publication type:

Opinion

New Online Program Offers Genetics Education.

Published in:

JAMA: Journal of the American Medical Association, 2011, v. 306, n. 11, p. 1190, doi. 10.1001/jama.2011.1278

By:

Voelker, Rebecca

Publication type:

Article

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.

Published in:

Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0607-5

By:

Kim, Jung;
Frone, Megan N.;
Gianferante, Matthew;
Khincha, Payal;
McMaster, Mary L.;
McReynolds, Lisa J.;
Pemov, Alexander;
Pinheiro, Maisa;
Alter, Blanche P.;
Gadalla, Shahinaz M.;
Greene, Mark H.;
Loud, Jennifer;
Mirabello, Lisa J.;
Savage, Sharon A.;
Goldstein, Alisa M.;
Stewart, Douglas R.;
Wegman-Ostrosky, Talia;
Achatz, Maria I.;
de Andrade, Kelvin C.;
Fortes, Fernanda P.

Publication type:

Article

LADD syndrome is caused by FGF10 mutations.

Published in:

Clinical Genetics, 2006, v. 69, n. 4, p. 349, doi. 10.1111/j.1399-0004.2006.00597.x

By:

Milunsky, Jeff M.;
Zhao, G.;
Maher, T. A.;
Colby, R.;
Everman, D. B.

Publication type:

Article

The Continuing Evolution of Ethical Standards for Genomic Sequencing in Clinical Care: Restoring Patient Choice.

Published in:

Journal of Law, Medicine & Ethics, 2017, v. 45, n. 3, p. 333, doi. 10.1177/1073110517737531

By:

Wolf, Susan M.

Publication type:

Article

On the Justifiability of ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing.

Published in:

Journal of Law, Medicine & Ethics, 2015, v. 43, n. 1, p. 134, doi. 10.1111/jlme.12201

By:

May, Thomas

Publication type:

Article

Clinical genome sequencing and population preferences for information about ‘incidental’ findings—From medically actionable genes (MAGs) to patient actionable genes (PAGs).

Published in:

PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0179935

By:

Ploug, Thomas;
Holm, Søren

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 2, p. 171, doi. 10.1002/mgg3.354

By:

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

Publication type:

Article

EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-77558-1

By:

Numa, Shogo;
Oishi, Akio;
Higasa, Koichiro;
Oishi, Maho;
Miyata, Manabu;
Hasegawa, Tomoko;
Ikeda, Hanako Ohashi;
Otsuka, Yuki;
Matsuda, Fumihiko;
Tsujikawa, Akitaka

Publication type:

Article

Incidental Findings and Informed Consent.

Published in:: 2013
Publication type:: Interview

Towards a European consensus for reporting incidental findings during clinical NGS testing.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1601, doi. 10.1038/ejhg.2015.111

By:

Hehir-Kwa, Jayne Y;
Claustres, Mireille;
Hastings, Ros J;
van Ravenswaaij-Arts, Conny;
Christenhusz, Gabrielle;
Genuardi, Maurizio;
Melegh, Béla;
Cambon-Thomsen, Anne;
Patsalis, Philippos;
Vermeesch, Joris;
Cornel, Martina C;
Searle, Beverly;
Palotie, Aarno;
Capoluongo, Ettore;
Peterlin, Borut;
Estivill, Xavier;
Robinson, Peter N

Publication type:

Article

Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland).

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 955, doi. 10.1038/ejhg.2013.301

By:

Middleton, Anna;
Patch, Chris;
Wiggins, Jennifer;
Barnes, Kathy;
Crawford, Gill;
Benjamin, Caroline;
Bruce, Anita

Publication type:

Article

Replicate exome-sequencing in a multiplegeneration family: improved interpretation of next-generation sequencing data.

Published in:

BMC Genomics, 2015, v. 16, p. 1, doi. 10.1186/s12864-015-2107-y

By:

Cherukuri, Praveen F.;
Maduro, Valerie;
Fuentes-Fajardo, Karin V.;
Lam, Kevin;
Adams, David R.;
Tifft, Cynthia J.;
Mullikin, James C.;
Gahl, William A.;
Boerkoel, Cornelius F.

Publication type:

Article

Fragile X syndrome: Is now the time for population screening?

Published in:

Medical Laboratory Observer (MLO), 2010, v. 42, n. 5, p. 20

By:

Hantash, Feras M.

Publication type:

Article

Peter Jacky, PhD, FACMG.

Published in:

2013

By:

Mark, Fong L.;
Grass, Frank

Publication type:

Interview

Assuring the Quality of Microarray Analysis.

Published in:

Journal of the Association of Genetic Technologists, 2011, v. 37, n. 4, p. 222

By:

Sudduth, Kathy

Publication type:

Article

Ethics and clinical utility of direct-to-consumer genetic tests.

Published in:

2015

By:

Sarin, Rajiv

Publication type:

Editorial

What to tell patients about DTC genetic testing.

Published in:

Contemporary OB/GYN, 2009, v. 54, n. 10, p. 80

By:

SIMPSON, JOE LEIGH

Publication type:

Article

Practice guidelines and proficiency testing for molecular assays.

Published in:

Transfusion, 2007, v. 47, p. 79S, doi. 10.1111/j.1537-2995.2007.01316.x

By:

Bellissimo, Daniel B.

Publication type:

Article

Novel mutations in HSF4 cause congenital cataracts in Chinese families.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0636-3

By:

Cao, Zongfu;
Zhu, Yihua;
Liu, Lijuan;
Wu, Shuangqing;
Liu, Bing;
Zhuang, Jianfu;
Tong, Yi;
Chen, Xiaole;
Xie, Yongqing;
Nie, Kaimei;
Lu, Cailing;
Ma, Xu;
Yang, Juhua

Publication type:

Article

Heterozygous KCNH2 variant phenotyping using Flp-In HEK293 and high-throughput automated patch clamp electrophysiology.

Published in:

Biology Methods & Protocols, 2021, v. 6, n. 1, p. 1, doi. 10.1093/biomethods/bpab003

By:

Ng, Chai-Ann;
Farr, Jessica;
Young, Paul;
Windley, Monique J;
Perry, Matthew D;
Hill, Adam P;
Vandenberg, Jamie I

Publication type:

Article

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-019-57335-5

By:

Xiang, Jiale;
Yang, Jiyun;
Chen, Lisha;
Chen, Qiang;
Yang, Haiyan;
Sun, Chengcheng;
Zhou, Qing;
Peng, Zhiyu

Publication type:

Article

Adoptees' Pursuit of Genomic Testing to Fill Gaps in Family Health History and Reduce Healthcare Disparity.

Published in:

Narrative Inquiry in Bioethics, 2018, v. 8, n. 2, p. 131, doi. 10.1353/nib.2018.0050

By:

Casas, Kari A.

Publication type:

Article

Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies.

Published in:

International Journal of Molecular Sciences, 2016, v. 17, n. 11, p. 1883, doi. 10.3390/ijms17111883

By:

Frisso, Giulia;
Detta, Nicola;
Coppola, Pamela;
Mazzaccara, Cristina;
Pricolo, Maria Rosaria;
D'Onofrio, Antonio;
Limongelli, Giuseppe;
Calabrò, Raffaele;
Salvatore, Francesco

Publication type:

Article

International Events 2012.

Published in:: 2012
Publication type:: Calendar

International Events 2007.

Published in:: 2006
Publication type:: Calendar

Contributions of rare and common variation to early-onset and atypical dementia risk.

Published in:

Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 3, p. 1, doi. 10.1101/mcs.a006271

By:

Wright, Carter A.;
Taylor, Jared W.;
Cochran, Meagan;
Lawlor, James M. J.;
Moyers, Belle A.;
Amaral, Michelle D.;
Bonnstetter, Zachary T.;
Carter, Princess;
Solomon, Veronika;
Myers, Richard M.;
Love, Marissa Natelson;
Geldmacher, David S.;
Cooper, Sara J.;
Roberson, Erik D.;
Cochran, J. Nicholas

Publication type:

Article

What do the new American College of Medical Genetics and Genomics (ACMG) guidelines mean for the provision of non-invasive prenatal genetic screening?

Published in:

Journal of Obstetrics & Gynaecology, 2017, v. 37, n. 6, p. 795, doi. 10.1080/01443615.2017.1291597

By:

Allyse, Megan;
Wick, Myra J.

Publication type:

Article

Thou Good and Faithful Servant.

Published in:

2009

By:

Schneider, Carl E.

Publication type:

Editorial

Screening and Caring for Children with Rare Disorders.

Published in:

Hastings Center Report, 2008, v. 38, n. 3, p. 3, doi. 10.1353/hcr.0.0006

By:

LIN, BRUCE K.;
FLEISCHMAN, ALAN R.

Publication type:

Article

Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.

Published in:

Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0508-z

By:

Bean, Lora J. H.;
Hegde, Madhuri R.

Publication type:

Article

Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.

Published in:

Epilepsia (Series 4), 2018, v. 59, n. 11, p. 2145, doi. 10.1111/epi.14579

By:

Niestroj, Lisa-Marie;
Juanjiangmeng Du;
Nothnagel, Michael;
May, Patrick;
Palotie, Aarno;
Daly, Mark J.;
Nürnberg, Peter;
Blümcke, Ingmar;
Lal, Dennis

Publication type:

Article

Pediatricians’ Attitudes About Screening Newborns for Infectious Diseases.

Published in:

Maternal & Child Health Journal, 2010, v. 14, n. 2, p. 174, doi. 10.1007/s10995-008-0431-4

By:

Schittek, Hanna;
Koopmans, Joy;
Ross, Lainie Friedman

Publication type:

Article