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Genetics in Medicine: Official Journal of the American College of Medical Genetics

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https://www.readbyqxmd.com/read/29469822/autosomal-recessive-noonan-syndrome-associated-with-biallelic-lztr1-variants
#1
Jennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, Alistair T Pagnamenta, Abdulrahman Alswaid, Eva H Baker, Edward Blair, Guntram Borck, Julia Brinkmann, William Craigen, Vu Chi Dung, Lisa Emrick, David B Everman, Koen L van Gassen, Suleyman Gulsuner, Margaret H Harr, Mahim Jain, Alma Kuechler, Kathleen A Leppig, Donna M McDonald-McGinn, Ngoc Thi Bich Can, Amir Peleg, Elizabeth R Roeder, R Curtis Rogers, Lena Sagi-Dain, Julie C Sapp, Alejandro A Schäffer, Denny Schanze, Helen Stewart, Jenny C Taylor, Nienke E Verbeek, Magdalena A Walkiewicz, Elaine H Zackai, Christiane Zweier, Martin Zenker, Brendan Lee, Leslie G Biesecker
PurposeTo characterize the molecular genetics of autosomal recessive Noonan syndrome.MethodsFamilies underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used to identify variants. The molecular consequences of observed splice variants were evaluated by reverse-transcription polymerase chain reaction.ResultsTwelve families with a total of 23 affected children with features of Noonan syndrome were evaluated...
February 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29446767/clapo-syndrome-identification-of-somatic-activating-pik3ca-mutations-and-delineation-of-the-natural-history-and-phenotype
#2
Lara Rodriguez-Laguna, Kristina Ibañez, Gema Gordo, Sixto Garcia-Minaur, Fernando Santos-Simarro, Noelia Agra, Elena Vallespín, Victoria E Fernández-Montaño, Rubén Martín-Arenas, Ángela Del Pozo, Héctor González-Pecellín, Rocío Mena, Inmaculada Rueda-Arenas, María V Gomez, Cristina Villaverde, Ana Bustamante, Carmen Ayuso, Víctor L Ruiz-Perez, Julián Nevado, Pablo Lapunzina, Juan C Lopez-Gutierrez, Victor Martinez-Glez
PurposeCLAPO syndrome is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/generalized overgrowth. Here we tested the hypothesis that, although the genetic cause is not known, the tissue distribution of the clinical manifestations in CLAPO seems to follow a pattern of somatic mosaicism.MethodsWe clinically evaluated a cohort of 13 patients with CLAPO and screened 20 DNA blood/tissue samples from 9 patients using high-throughput, deep sequencing...
February 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29446766/are-whole-exome-and-whole-genome-sequencing-approaches-cost-effective-a-systematic-review-of-the-literature
#3
Katharina Schwarze, James Buchanan, Jenny C Taylor, Sarah Wordsworth
PurposeWe conducted a systematic literature review to summarize the current health economic evidence for whole-exome sequencing (WES) and whole-genome sequencing (WGS).MethodsRelevant studies were identified in the EMBASE, MEDLINE, Cochrane Library, EconLit and University of York Centre for Reviews and Dissemination databases from January 2005 to July 2016. Publications were included in the review if they were economic evaluations, cost studies, or outcome studies.ResultsThirty-six studies met our inclusion criteria...
February 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29419820/corrigendum-novel-findings-with-reassessment-of-exome-data-implications-for-validation-testing-and-interpretation-of-genomic-data
#4
Kristin McDonald Gibson, Addie Nesbitt, Kajia Cao, Zhenming Yu, Elizabeth Denenberg, Elizabeth DeChene, Qiaoning Guan, Elizabeth Bhoj, Xiangdong Zhou, Bo Zhang, Chao Wu, Holly Dubbs, Alisha Wilkens, Livija Medne, Emma Bedoukian, Peter S White, Jeffrey Pennington, Minjie Luo, Laura Conlin, Dimitri Monos, Mahdi Sarmady, Eric Marsh, Elaine Zackai, Nancy Spinner, Ian Krantz, Matt Deardorff, Avni Santani
This corrects the article DOI: 10.1038/gim.2017.153.
February 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29419819/a-metabolomic-map-of-zellweger-spectrum-disorders-reveals-novel-disease-biomarkers
#5
Michael F Wangler, Leroy Hubert, Taraka R Donti, Meredith J Ventura, Marcus J Miller, Nancy Braverman, Kelly Gawron, Mousumi Bose, Ann B Moser, Richard O Jones, William B Rizzo, V Reid Sutton, Qin Sun, Adam D Kennedy, Sarah H Elsea
PurposePeroxisome biogenesis disorders-Zellweger spectrum disorders (PBD-ZSD) are metabolic diseases with multisystem manifestations. Individuals with PBD-ZSD exhibit impaired peroxisomal biochemical functions and have abnormal levels of peroxisomal metabolites, but the broader metabolic impact of peroxisomal dysfunction and the utility of metabolomic methods is unknown.MethodsWe studied 19 individuals with clinically and molecularly characterized PBD-ZSD. We performed both quantitative peroxisomal biochemical diagnostic studies in parallel with untargeted small molecule metabolomic profiling in plasma samples with detection of >650 named compounds...
February 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29419818/scyl1-variants-cause-a-syndrome-with-low-%C3%AE-glutamyl-transferase-cholestasis-acute-liver-failure-and-neurodegeneration-calfan
#6
Dominic Lenz, Patricia McClean, Aydan Kansu, Penelope E Bonnen, Giusy Ranucci, Christian Thiel, Beate K Straub, Inga Harting, Bader Alhaddad, Bianca Dimitrov, Urania Kotzaeridou, Daniel Wenning, Raffaele Iorio, Ryan W Himes, Zarife Kuloğlu, Emma L Blakely, Robert W Taylor, Thomas Meitinger, Stefan Kölker, Holger Prokisch, Georg F Hoffmann, Tobias B Haack, Christian Staufner
PurposeBiallelic mutations in SCYL1 were recently identified as causing a syndromal disorder characterized by peripheral neuropathy, cerebellar atrophy, ataxia, and recurrent episodes of liver failure. The occurrence of SCYL1 deficiency among patients with previously undetermined infantile cholestasis or acute liver failure has not been studied; furthermore, little is known regarding the hepatic phenotype.MethodsWe aimed to identify patients with SCYL1 variants within an exome-sequencing study of individuals with infantile cholestasis or acute liver failure of unknown etiology...
February 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29388949/a-literature-review-at-genome-scale-improving-clinical-variant-assessment
#7
Christopher A Cassa, Daniel M Jordan, Ivan Adzhubei, Shamil Sunyaev
PurposeOver 150,000 variants have been reported to cause Mendelian disease in the medical literature. It is still difficult to leverage this knowledge base in clinical practice, as many reports lack strong statistical evidence or may include false associations. Clinical laboratories assess whether these variants (along with newly observed variants that are adjacent to these published ones) underlie clinical disorders.MethodsWe investigated whether citation data-including journal impact factor and the number of cited variants (NCV) in each gene with published disease associations-can be used to improve variant assessment...
February 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29388948/clinical-validity-of-phenotype-driven-analysis-software-phenovar-as-a-diagnostic-aid-for-clinical-geneticists-in-the-interpretation-of-whole-exome-sequencing-data
#8
Fanny Thuriot, Caroline Buote, Elaine Gravel, Sébastien Chénier, Valérie Désilets, Bruno Maranda, Paula J Waters, Pierre-Etienne Jacques, Sébastien Lévesque
PurposeWe sought to determine the diagnostic yield of whole-exome sequencing (WES) combined with phenotype-driven analysis of variants in patients with suspected genetic disorders.MethodsWES was performed on a cohort of 51 patients presenting dysmorphisms with or without neurodevelopmental disorders of undetermined etiology. For each patient, a clinical geneticist reviewed the phenotypes and used the phenotype-driven analysis software PhenoVar (http://phenovar.med.usherbrooke.ca/) to analyze WES variants. The prioritized list of potential diagnoses returned was reviewed by the clinical geneticist, who selected candidate variants to be confirmed by segregation analysis...
February 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29388947/clinical-whole-genome-sequencing-from-routine-formalin-fixed-paraffin-embedded-specimens-pilot-study-for-the-100-000-genomes-project
#9
Pauline Robbe, Niko Popitsch, Samantha J L Knight, Pavlos Antoniou, Jennifer Becq, Miao He, Alexander Kanapin, Anastasia Samsonova, Dimitrios V Vavoulis, Mark T Ross, Zoya Kingsbury, Maite Cabes, Sara D C Ramos, Suzanne Page, Helene Dreau, Kate Ridout, Louise J Jones, Alice Tuff-Lacey, Shirley Henderson, Joanne Mason, Francesca M Buffa, Clare Verrill, David Maldonado-Perez, Ioannis Roxanis, Elena Collantes, Lisa Browning, Sunanda Dhar, Stephen Damato, Susan Davies, Mark Caulfield, David R Bentley, Jenny C Taylor, Clare Turnbull, Anna Schuh
PurposeFresh-frozen (FF) tissue is the optimal source of DNA for whole-genome sequencing (WGS) of cancer patients. However, it is not always available, limiting the widespread application of WGS in clinical practice. We explored the viability of using formalin-fixed, paraffin-embedded (FFPE) tissues, available routinely for cancer patients, as a source of DNA for clinical WGS.MethodsWe conducted a prospective study using DNAs from matched FF, FFPE, and peripheral blood germ-line specimens collected from 52 cancer patients (156 samples) following routine diagnostic protocols...
February 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29388946/interpretation-of-genomic-sequencing-variants-should-be-considered-uncertain-until-proven-guilty
#10
Karen E Weck
No abstract text is available yet for this article.
February 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29388945/reconsidering-the-duty-to-warn-genetically-at-risk-relatives
#11
REVIEW
Mark A Rothstein
The duty to warn genetically at-risk relatives of patients is one of the most misunderstood legal and ethical issues affecting clinical genetics. The legal doctrines are often associated with three state appellate court cases beginning in the mid-1990s. Since the HIPAA Privacy Rule went into effect in 2003, the duty to warn must be accomplished by warning the patient of the genetic nature of a diagnosed disorder or genetic risk and the necessity of warning at-risk relatives. Health-care providers are neither required nor permitted to warn at-risk relatives without the consent of their patients...
February 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29388944/considerations-in-healthcare-reform-for-patients-and-families-with-genetic-diseases-a-statement-of-the-american-college-of-medical-genetics-and-genomics
#12
(no author information available yet)
Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other health-care providers, to help them provide quality medical genetic services. Adherence to these recommendations does not necessarily assure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen...
February 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29388943/corrigendum-reproductive-genetic-carrier-screening-for-cystic-fibrosis-fragile-x-syndrome-and-spinal-muscular-atrophy-in-australia-outcomes-of-12-000-tests
#13
Alison Dalton Archibald, Melanie Jane Smith, Trent Burgess, Katrina Louise Scarff, Justine Elliott, Clare Elizabeth Hunt, Caitlin Barns-Jenkins, Chelsea Holt, Karina Sandoval, Vanessa Siva Kumar, Lisa Ward, Emily Caroline Allen, Sarah Valerie Collis, Shannon Cowie, David Francis, Martin B Delatycki, Eppie Mildred Yiu, R John Massie, Mark Domenic Pertile, Desirée du Sart, Damien Bruno, David J Amor
This corrects the article DOI: 10.1038/gim.2017.134.
February 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29388942/corrigendum-risk-of-colorectal-cancer-for-carriers-of-a-germ-line-mutation-in-pole-or-pold1
#14
Daniel D Buchanan, Jenna R Stewart, Mark Clendenning, Christophe Rosty, Khalid Mahmood, Bernard J Pope, Mark A Jenkins, John L Hopper, Melissa C Southey, Finlay A Macrae, Ingrid M Winship, Aung Ko Win
This corrects the article DOI: 10.1038/gim.2017.185.
February 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29388941/making-pretest-genomic-counseling-optional-lessons-from-the-rave-study
#15
Erica J Sutton, Iftikhar J Kullo, Richard R Sharp
No abstract text is available yet for this article.
February 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29388940/anticipated-responses-of-early-adopter-genetic-specialists-and-nongenetic-specialists-to-unsolicited-genomic-secondary-findings
#16
Kurt D Christensen, Barbara A Bernhardt, Gail P Jarvik, Lucia A Hindorff, Jeffrey Ou, Sawona Biswas, Bradford C Powell, Robert W Grundmeier, Kalotina Machini, Dean J Karavite, Jeffrey W Pennington, Ian D Krantz, Jonathan S Berg, Katrina A B Goddard
PurposeSecondary findings from genomic sequencing are becoming more common. We compared how health-care providers with and without specialized genetics training anticipated responding to different types of secondary findings.MethodsProviders with genomic sequencing experience reviewed five secondary-findings reports and reported attitudes and potential clinical follow-up. Analyses compared genetic specialists and physicians without specialized genetics training, and examined how responses varied by secondary finding...
February 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29388939/erratum-candidate-gene-criteria-for-clinical-reporting-diagnostic-exome-sequencing-identifies-altered-candidate-genes-among-8-of-patients-with-undiagnosed-diseases
#17
Kelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, Erica Smith, Kelly Radtke, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Elizabeth C Chao, Wendy A Alcaraz, Katherine L Helbig, Samin A Sajan, Mari Rossi, Hsiao-Mei Lu, Robert Huether, Shuwei Li, Sitao Wu, Mark E Nuñes, Sha Tang
This corrects the article DOI: 10.1038/gim.2016.95.
February 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29369293/cardioclassifier-disease-and-gene-specific-computational-decision-support-for-clinical-genome-interpretation
#18
Nicola Whiffin, Roddy Walsh, Risha Govind, Matthew Edwards, Mian Ahmad, Xiaolei Zhang, Upasana Tayal, Rachel Buchan, William Midwinter, Alicja E Wilk, Hanna Najgebauer, Catherine Francis, Sam Wilkinson, Thomas Monk, Laura Brett, Declan P O'Regan, Sanjay K Prasad, Deborah J Morris-Rosendahl, Paul J R Barton, Elizabeth Edwards, James S Ware, Stuart A Cook
PurposeInternationally adopted variant interpretation guidelines from the American College of Medical Genetics and Genomics (ACMG) are generic and require disease-specific refinement. Here we developed CardioClassifier (http://www.cardioclassifier.org), a semiautomated decision-support tool for inherited cardiac conditions (ICCs).MethodsCardioClassifier integrates data retrieved from multiple sources with user-input case-specific information, through an interactive interface, to support variant interpretation...
January 25, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29369292/the-contribution-of-family-history-to-the-burden-of-diagnosed-diabetes-undiagnosed-diabetes-and-prediabetes-in-the-united-states-analysis-of-the-national-health-and-nutrition-examination-survey-2009-2014
#19
Ramal Moonesinghe, Gloria L A Beckles, Tiebin Liu, Muin J Khoury
PurposeGiven the importance of family history in the early detection and prevention of type 2 diabetes, we quantified the public health impact of reported family health history on diagnosed diabetes (DD), undiagnosed diabetes (UD), and prediabetes (PD) in the United States.MethodsWe used population data from the National Health and Nutrition Examination Survey 2009-2014 to measure the association of reported family history of diabetes with DD, UD, and PD.ResultsUsing polytomous logistic regression and multivariable adjustment, family history prevalence ratios were 4...
January 25, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29345684/msh6-and-pms2-germ-line-pathogenic-variants-implicated-in-lynch-syndrome-are-associated-with-breast-cancer
#20
Maegan E Roberts, Sarah A Jackson, Lisa R Susswein, Nur Zeinomar, Xinran Ma, Megan L Marshall, Amy R Stettner, Becky Milewski, Zhixiong Xu, Benjamin D Solomon, Mary Beth Terry, Kathleen S Hruska, Rachel T Klein, Wendy K Chung
PurposeAn association of Lynch syndrome (LS) with breast cancer has been long suspected; however, there have been insufficient data to address this question for each of the LS genes individually.MethodsWe conducted a retrospective review of personal and family history in 423 women with pathogenic or likely pathogenic germ-line variants in MLH1 (N = 65), MSH2 (N = 94), MSH6 (N = 140), or PMS2 (N = 124) identified via clinical multigene hereditary cancer testing. Standard incidence ratios (SIRs) of breast cancer were calculated by comparing breast cancer frequencies in our study population with those in the general population (Surveillance, Epidemiology, and End Results 18 data)...
January 18, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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