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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/28981071/vascular-phenotypes-in-nonvascular-subtypes-of-the-ehlers-danlos-syndrome-a-systematic-review
#1
REVIEW
Sanne D'hondt, Tim Van Damme, Fransiska Malfait
PurposeWithin the spectrum of the Ehlers-Danlos syndromes (EDS), vascular complications are usually associated with the vascular subtype of EDS. Vascular complications are also observed in other EDS subtypes, but the reports are anecdotal and the information is dispersed. To better document the nature of vascular complications among "nonvascular" EDS subtypes, we performed a systematic review.MethodsWe queried three databases for English-language studies from inception until May 2017, documenting both phenotypes and genotypes of patients with nonvascular EDS subtypes...
October 5, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28933792/a-common-haplotype-containing-functional-cacna1h-variants-is-frequently-coinherited-with-increased-tpsab1-copy-number
#2
Jonathan J Lyons, Stephanie C Stotz, Jack Chovanec, Yihui Liu, Katie L Lewis, Celeste Nelson, Thomas DiMaggio, Nina Jones, Kelly D Stone, Heejong Sung, Leslie G Biesecker, Michael A Colicos, Joshua D Milner
PurposeCaV3.2 signaling contributes to nociception, pruritus, gastrointestinal motility, anxiety, and blood pressure homeostasis. This calcium channel, encoded by CACNA1H, overlaps the human tryptase locus, wherein increased TPSAB1 copy number causes hereditary α-tryptasemia. Germ-line CACNA1H variants may contribute to the variable expressivity observed with this genetic trait.MethodsTryptase-encoding sequences at TPSAB1 and TPSB2, and TPSG1 and CACNA1H variants were genotyped in 46 families with hereditary α-tryptasemia syndrome...
September 21, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28933791/response-to-hartley-et-al-and-mullegama-et-al
#3
Pranoot Tanpaiboon, Kimberly A Chapman
No abstract text is available yet for this article.
September 21, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28933790/is-it-time-to-retire-fragile-x-testing-as-a-first-tier-test-for-developmental-delay-intellectual-disability-and-autism-spectrum-disorder
#4
Sureni V Mullegama, Steven D Klein, Dzung C Nguyen, Arang Kim, Rebecca Signer, Michelle Fox, Naghmeh Dorrani, Andrea Hendershot, Rebecca Mardach, Robert Suddath, Katrina Dipple, Eric Vilain, Derek A Wong, Joshua L Deignan, Stephen D Cederbaum, Wayne W Grody, Julian A Martinez-Agosto
No abstract text is available yet for this article.
September 21, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28933789/trends-in-utilization-and-costs-of-brca-testing-among-women-aged-18-64-years-in-the-united-states-2003-2014
#5
Zhuo Chen, Katherine Kolor, Scott D Grosse, Juan L Rodriguez, Julie A Lynch, Ridgely Fisk Green, W David Dotson, M Scott Bowen, Muin J Khoury
PurposeWe examined 12-year trends in BRCA testing rates and costs in the context of clinical guidelines, national policies, and other factors.MethodsWe estimated trends in BRCA testing rates and costs from 2003 to 2014 for women aged 18-64 years using private claims data and publicly reported revenues from the primary BRCA testing provider.ResultsThe percentage of women with zero out-of-pocket payments for BRCA testing increased during 2013-2014, after 7 years of general decline, coinciding with a clarification of Affordable Care Act coverage of BRCA genetic testing...
September 21, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28914269/looking-beyond-the-exome-a-phenotype-first-approach-to-molecular-diagnostic-resolution-in-rare-and-undiagnosed-diseases
#6
Loren D M Pena, Yong-Hui Jiang, Kelly Schoch, Rebecca C Spillmann, Nicole Walley, Nicholas Stong, Sarah Rapisardo Horn, Jennifer A Sullivan, Allyn McConkie-Rosell, Sujay Kansagra, Edward C Smith, Mays El-Dairi, Jane Bellet, Martha Ann Keels, Joan Jasien, Peter G Kranz, Richard Noel, Shashi K Nagaraj, Robert K Lark, Daniel S G Wechsler, Daniela Del Gaudio, Marco L Leung, Laura G Hendon, Collette C Parker, Kelly L Jones, David B Goldstein, Vandana Shashi
PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative. Sanger sequencing of ANTXR2 revealed a homozygous single base pair insertion, previously missed by the WES variant caller software...
September 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28914268/impact-of-hipaa-s-minimum-necessary-standard-on-genomic-data-sharing
#7
Barbara J Evans, Gail P Jarvik
This article provides a brief introduction to the Health Insurance Portability and Accountability Act of 1996 (HIPAA) Privacy Rule's minimum necessary standard, which applies to sharing of genomic data, particularly clinical data, following 2013 Privacy Rule revisions. This research used the Thomson Reuters Westlaw database and law library resources in its legal analysis of the HIPAA privacy tiers and the impact of the minimum necessary standard on genomic data sharing. We considered relevant example cases of genomic data-sharing needs...
September 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28914267/developing-a-common-framework-for-evaluating-the-implementation-of-genomic-medicine-interventions-in-clinical-care-the-ignite-network-s-common-measures-working-group
#8
Lori A Orlando, Nina R Sperber, Corrine Voils, Marshall Nichols, Rachel A Myers, R Ryanne Wu, Tejinder Rakhra-Burris, Kenneth D Levy, Mia Levy, Toni I Pollin, Yue Guan, Carol R Horowitz, Michelle Ramos, Stephen E Kimmel, Caitrin W McDonough, Ebony B Madden, Laura J Damschroder
PurposeImplementation research provides a structure for evaluating the clinical integration of genomic medicine interventions. This paper describes the Implementing Genomics in Practice (IGNITE) Network's efforts to promote (i) a broader understanding of genomic medicine implementation research and (ii) the sharing of knowledge generated in the network.MethodsTo facilitate this goal, the IGNITE Network Common Measures Working Group (CMG) members adopted the Consolidated Framework for Implementation Research (CFIR) to guide its approach to identifying constructs and measures relevant to evaluating genomic medicine as a whole, standardizing data collection across projects, and combining data in a centralized resource for cross-network analyses...
September 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28914266/medical-genetics-and-genomics-education-and-its-impact-on-genomic-literacy-of-the-clinical-workforce
#9
Katherine Hyland, Shoumita Dasgupta
No abstract text is available yet for this article.
September 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28914265/fragile-x-testing-as-a-second-tier-test
#10
Taila Hartley, Ryan Potter, Lauren Badalato, Amanda C Smith, Olga Jarinova, Kym M Boycott
No abstract text is available yet for this article.
September 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28914264/comprehensive-use-of-extended-exome-analysis-improves-diagnostic-yield-in-rare-disease-a-retrospective-survey-in-1-059-cases
#11
Gaber Bergant, Ales Maver, Luca Lovrecic, Goran Čuturilo, Alenka Hodzic, Borut Peterlin
PurposeWe sought to determine the analytical sensitivity of several extended exome variation analysis approaches in terms of their contribution to diagnostic yield and their clinical feasibility.MethodsWe retrospectively analyzed the results of genetic testing in 1,059 distinct cases referred for exome sequencing to our institution. In these, we routinely employed extended exome analysis approaches in addition to basic variant analysis, including (i) copy-number variation (CNV) detection, (ii) nonconsensus splice defect detection, (ii) genomic breakpoint detection, (iv) homozygosity mapping, and (v) mitochondrial variant analysis...
September 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28858330/navigating-the-research-clinical-interface-in-genomic-medicine-analysis-from-the-cser-consortium
#12
Susan M Wolf, Laura M Amendola, Jonathan S Berg, Wendy K Chung, Ellen Wright Clayton, Robert C Green, Julie Harris-Wai, Gail E Henderson, Gail P Jarvik, Barbara A Koenig, Lisa Soleymani Lehmann, Amy L McGuire, Pearl O'Rourke, Carol Somkin, Benjamin S Wilfond, Wylie Burke
PurposeThe Clinical Sequencing Exploratory Research (CSER) Consortium encompasses nine National Institutes of Health-funded U-award projects investigating translation of genomic sequencing into clinical care. Previous literature has distinguished norms and rules governing research versus clinical care. This is the first study to explore how genomics investigators describe and navigate the research-clinical interface.MethodsA CSER working group developed a 22-item survey. All nine U-award projects participated...
August 31, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28837162/individuals-with-fancm-biallelic-mutations-do-not-develop-fanconi-anemia-but-show-risk-for-breast-cancer-chemotherapy-toxicity-and-may-display-chromosome-fragility
#13
Irene Catucci, Ana Osorio, Brita Arver, Guido Neidhardt, Massimo Bogliolo, Federica Zanardi, Mirko Riboni, Simone Minardi, Roser Pujol, Jacopo Azzollini, Bernard Peissel, Siranoush Manoukian, Giovanna De Vecchi, Stefano Casola, Jan Hauke, Lisa Richters, Kerstin Rhiem, Rita K Schmutzler, Karin Wallander, Therese Törngren, Åke Borg, Paolo Radice, Jordi Surrallés, Eric Hahnen, Hans Ehrencrona, Anders Kvist, Javier Benitez, Paolo Peterlongo
PurposeMonoallelic germ-line mutations in the BRCA1/FANCS, BRCA2/FANCD1 and PALB2/FANCN genes confer high risk of breast cancer. Biallelic mutations in these genes cause Fanconi anemia (FA), characterized by malformations, bone marrow failure, chromosome fragility, and cancer predisposition (BRCA2/FANCD1 and PALB2/FANCN), or an FA-like disease presenting a phenotype similar to FA but without bone marrow failure (BRCA1/FANCS). FANCM monoallelic mutations have been reported as moderate risk factors for breast cancer, but there are no reports of any clinical phenotype observed in carriers of biallelic mutations...
August 24, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28837161/biallelic-variants-in-lingo1-are-associated-with-autosomal-recessive-intellectual-disability-microcephaly-speech-and-motor-delay
#14
Muhammad Ansar, Saima Riazuddin, Muhammad Tahir Sarwar, Periklis Makrythanasis, Sohail Aziz Paracha, Zafar Iqbal, Jamshed Khan, Muhammad Zaman Assir, Mureed Hussain, Attia Razzaq, Daniel Lôpo Polla, Abid Sohail Taj, Asbjørn Holmgren, Naila Batool, Doriana Misceo, Justyna Iwaszkiewicz, Arjan P M de Brouwer, Michel Guipponi, Sylviane Hanquinet, Vincent Zoete, Federico A Santoni, Eirik Frengen, Jawad Ahmed, Sheikh Riazuddin, Hans van Bokhoven, Stylianos E Antonarakis
PurposeTo elucidate the novel molecular cause in two unrelated consanguineous families with autosomal recessive intellectual disability.MethodsA combination of homozygosity mapping and exome sequencing was used to locate the plausible genetic defect in family F162, while only exome sequencing was followed in the family PKMR65. The protein 3D structure was visualized with the University of California-San Francisco Chimera software.ResultsAll five patients from both families presented with severe intellectual disability, aggressive behavior, and speech and motor delay...
August 24, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28837160/loss-of-function-mutations-in-tdrd7-lead-to-a-rare-novel-syndrome-combining-congenital-cataract-and-nonobstructive-azoospermia-in-humans
#15
Yue-Qiu Tan, Chaofeng Tu, Lanlan Meng, Shimin Yuan, Calvin Sjaarda, Aixiang Luo, Juan Du, Wen Li, Fei Gong, Changgao Zhong, Han-Xiang Deng, Guangxiu Lu, Ping Liang, Ge Lin
PurposeComorbid familial nonobstructive azoospermia (NOA) and congenital cataract (CC) have not been reported previously, and no single human gene has been associated with both diseases in humans. Our purpose was to uncover novel human mutations and genes causing familial NOA and CC.MethodsWe performed whole-exome sequencing for two brothers with both NOA and CC from a consanguineous family. Mutation screening of TDRD7 was performed in another similar consanguineous family and 176 patients with azoospermia or CC alone and 520 healthy controls...
August 24, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28837159/inferred-inheritance-of-morbidmap-genes-without-omim-clinical-synopsis
#16
Aamina Shakir, Michael Ripperger, Zhijie Jiang, Klaas J Wierenga
PurposeThe Genomic Oligoarray and SNP Array Evaluation Tool 3.0 matches candidate genes within regions of homozygosity with a patient's phenotype, by mining OMIM for gene entries that contain a Clinical Synopsis. However, the tool cannot identify genes/disorders whose OMIM entries lack a descriptor of the mode of (Mendelian) inheritance. This study aimed to improve the tool's diagnostic power by building a database of autosomal recessive diseases not diagnosable through OMIM.MethodsWe extracted a list of all genes in OMIM that produce disease phenotypes but lack Clinical Synopses or other statements of mode of inheritance...
August 24, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28837158/high-frequency-of-mosaic-pathogenic-variants-in-genes-causing-epilepsy-related-neurodevelopmental-disorders
#17
Mary Beth Stosser, Amanda S Lindy, Elizabeth Butler, Kyle Retterer, Caitlin M Piccirillo-Stosser, Gabriele Richard, Dianalee A McKnight
PurposeMosaicism probably represents an underreported cause of genetic disorders due to detection challenges during routine molecular diagnostics. The purpose of this study was to evaluate the frequency of mosaicism detected by next-generation sequencing in genes associated with epilepsy-related neurodevelopmental disorders.MethodsWe conducted a retrospective analysis of 893 probands with epilepsy who had a multigene epilepsy panel or whole-exome sequencing performed in a clinical diagnostic laboratory and were positive for a pathogenic or likely pathogenic variant in one of nine genes (CDKL5, GABRA1, GABRG2, GRIN2B, KCNQ2, MECP2, PCDH19, SCN1A, or SCN2A)...
August 24, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28837157/biallelic-truncating-fancm-mutations-cause-early-onset-cancer-but-not-fanconi-anemia
#18
Massimo Bogliolo, Dominique Bluteau, James Lespinasse, Roser Pujol, Nadia Vasquez, Catherine Dubois d'Enghien, Dominique Stoppa-Lyonnet, Thierry Leblanc, Jean Soulier, Jordi Surrallés
PurposeMutations in genes involved in Fanconi anemia (FA)/BRCA DNA repair pathway cause cancer susceptibility diseases including familial breast cancer and Fanconi anemia (FA). A single FA patient with biallelic FANCM mutations was reported in 2005 but concurrent FANCA pathogenic mutations precluded assignment of FANCM as an FA gene. Here we report three individuals with biallelic FANCM truncating mutations who developed early-onset cancer and toxicity to chemotherapy but did not present congenital malformations or any hematological phenotype suggestive of FA...
August 24, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28817112/monoallelic-and-biallelic-creb3l1-variant-causes-mild-and-severe-osteogenesis-imperfecta-respectively
#19
Rachel B Keller, Thao T Tran, Shawna M Pyott, Melanie G Pepin, Ravi Savarirayan, George McGillivray, Deborah A Nickerson, Michael J Bamshad, Peter H Byers
PurposeOsteogenesis imperfecta (OI) is a heritable skeletal dysplasia. Dominant pathogenic variants in COL1A1 and COL1A2 explain the majority of OI cases. At least 15 additional genes have been identified, but those still do not account for all OI phenotypes that present. We sought the genetic cause of mild and lethal OI phenotypes in an unsolved family.MethodsWe performed exome sequencing on seven members of the family, both affected and unaffected.ResultsWe identified a variant in cyclic AMP responsive element binding protein 3-like 1 (CREB3L1) in a consanguineous family...
August 17, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28817111/prospective-cohort-study-for-identification-of-underlying-genetic-causes-in-neonatal-encephalopathy-using-whole-exome-sequencing
#20
Theodora U J Bruun, Caro-Lyne DesRoches, Diane Wilson, Vann Chau, Tadashi Nakagawa, Masahiro Yamasaki, Shinya Hasegawa, Toshiyuki Fukao, Christian Marshall, Saadet Mercimek-Andrews
PurposeNeonatal encephalopathy, which is characterized by a decreased level of consciousness, occurs in 1-7/1,000 live-term births. In more than half of term newborns, there is no identifiable etiological factor. To identify underlying genetic defects, we applied whole-exome sequencing (WES) in term newborns with neonatal encephalopathy as a prospective cohort study.MethodsTerm newborns with neonatal encephalopathy and no history of perinatal asphyxia were included. WES was performed using patient and both parents' DNA...
August 17, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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