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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/30214072/an-immune-tolerance-approach-using-transient-low-dose-methotrexate-in-the-ert-na%C3%A3-ve-setting-of-patients-treated-with-a-therapeutic-protein-experience-in-infantile-onset-pompe-disease
#1
Zoheb B Kazi, Ankit K Desai, R Bradley Troxler, David Kronn, Seymour Packman, Marta Sabbadini, William B Rizzo, Katalin Scherer, Omar Abdul-Rahman, Pranoot Tanpaiboon, Sheela Nampoothiri, Neerja Gupta, Annette Feigenbaum, Dmitriy M Niyazov, Langston Sherry, Reeval Segel, Alison McVie-Wylie, Crystal Sung, Alexandra M Joseph, Susan Richards, Priya S Kishnani
PURPOSE: To investigate immune tolerance induction with transient low-dose methotrexate (TLD-MTX) initiated with recombinant human acid α-glucosidase (rhGAA), in treatment-naïve cross-reactive immunologic material (CRIM)-positive infantile-onset Pompe disease (IOPD) patients. METHODS: Newly diagnosed IOPD patients received subcutaneous or oral 0.4 mg/kg TLD-MTX for 3 cycles (3 doses/cycle) with the first 3 rhGAA infusions. Anti-rhGAA IgG titers, classified as high-sustained (HSAT; ≥51,200, ≥2 times after 6 months), sustained intermediate (SIT; ≥12,800 and <51,200 within 12 months), or low (LT; ≤6400 within 12 months), were compared with those of 37 CRIM-positive IOPD historic comparators receiving rhGAA alone...
September 14, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30214071/genomic-and-phenotypic-delineation-of-congenital-microcephaly
#2
Ranad Shaheen, Sateesh Maddirevula, Nour Ewida, Saud Alsahli, Ghada M H Abdel-Salam, Maha S Zaki, Saeed Al Tala, Amal Alhashem, Ameen Softah, Mohammed Al-Owain, Anas M Alazami, Basma Abadel, Nisha Patel, Tarfa Al-Sheddi, Rana Alomar, Eman Alobeid, Niema Ibrahim, Mais Hashem, Firdous Abdulwahab, Muddathir Hamad, Brahim Tabarki, Ali H Alwadei, Fahad Alhazzani, Fahad A Bashiri, Amal Kentab, Serdar Şahintürk, Elliott Sherr, Brieana Fregeau, Samira Sogati, Saad Ali M Alshahwan, Salwa Alkhalifi, Zainab Alhumaidi, Samia Temtamy, Mona Aglan, Ghada Otaify, Katta M Girisha, Maha Tulbah, Mohammed Zain Seidahmed, Mustafa A Salih, Mohamed Abouelhoda, Afaque A Momin, Muna Al Saffar, Jennifer N Partlow, Stefan T Arold, Eissa Faqeih, Christopher Walsh, Fowzan S Alkuraya
PURPOSE: Congenital microcephaly (CM) is an important birth defect with long term neurological sequelae. We aimed to perform detailed phenotypic and genomic analysis of patients with Mendelian forms of CM. METHODS: Clinical phenotyping, targeted or exome sequencing, and autozygome analysis. RESULTS: We describe 150 patients (104 families) with 56 Mendelian forms of CM. Our data show little overlap with the genetic causes of postnatal microcephaly...
September 14, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30214070/developing-a-genetic-services-assessment-tool-to-inform-quality-improvement-efforts-in-state-genetic-service-delivery
#3
Ann F Chou, John Mulvihill, Celia Kaye, Sylvia Mann, Marc S Williams, Lori Williamson
PURPOSE: The Institute of Medicine recommended the utilization of metrics to improve quality in health care, although they have rarely been used in genetics. This study developed and tested a set of metrics for a quality assessment tool for genetic services METHODS: A systematic review of literature, guidelines, and consensus statements identified candidate measures for a possible assessment tool. An expert panel conducted a modified Delphi technique to rank the metrics. Ratings were computed to generate a score for each metric, creating a set of metrics for consensus discussions, pilot testing, and feasibility testing in eight Midwestern states...
September 14, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30214069/cftr-variants-and-renal-abnormalities-in-males-with-congenital-unilateral-absence-of-the-vas-deferens-cuavd-a-systematic-review-and-meta-analysis-of-observational-studies
#4
REVIEW
Hongcai Cai, Xingrong Qing, Jean Damascene Niringiyumukiza, Xuxin Zhan, Dunsheng Mo, Yuanzhong Zhou, Xuejun Shang
PURPOSE: CFTR variant is the main genetic contributor to congenital (unilateral/bilateral) absence of the vas deferens (CAVD/CUAVD/CBAVD). We performed a systematic review to elucidate the genetic link between CFTR variants, CUAVD, and the associated risk of renal abnormality (RA). METHODS: We searched relevant databases for eligible articles reporting CFTR variants in CUAVD. The frequency of CFTR variants and RA, and the odds ratios (ORs) for common alleles and RA risk, were pooled under random-/fixed-effect models...
September 14, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30214068/misattributed-parentage-as-an-unanticipated-finding-during-exome-genome-sequencing-current-clinical-laboratory-practices-and-an-opportunity-for-standardization
#5
Celeste Eno, Pinar Bayrak-Toydemir, Lora Bean, Alicia Braxton, Elizabeth C Chao, Dima El-Khechen, Edward D Esplin, Bethany Friedman, Kelly D Farwell Hagman, Tina Hambuch, Amy Hernandez, Jane Juusola, Gina Londre, Jerry Machado, Rong Mao, Lindsey Mighion, Heidi L Rehm, Patricia Ward, Joshua L Deignan
PURPOSE: Clinical laboratories performing exome or genome sequencing (ES/GS) are familiar with the challenges associated with proper consenting for and reporting of medically actionable secondary findings based on recommendations from the American College of Medical Genetics and Genomics (ACMG). Misattributed parentage is another type of unanticipated finding a laboratory may encounter during family-based ES/GS; however, there are currently no professional recommendations related to the proper consenting for and reporting of misattributed parentage encountered during ES/GS...
September 14, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30214067/frequency-and-signature-of-somatic-variants-in-1461-human-brain-exomes
#6
Wei Wei, Michael J Keogh, Juvid Aryaman, Zoe Golder, Peter J Kullar, Ian Wilson, Kevin Talbot, Martin R Turner, Chris-Anne McKenzie, Claire Troakes, Johannes Attems, Colin Smith, Safa Al Sarraj, Chris M Morris, Olaf Ansorge, Nick S Jones, James W Ironside, Patrick F Chinnery
PURPOSE: To systematically study somatic variants arising during development in the human brain across a spectrum of neurodegenerative disorders. METHODS: In this study we developed a pipeline to identify somatic variants from exome sequencing data in 1461 diseased and control human brains. Eighty-eight percent of the DNA samples were extracted from the cerebellum. Identified somatic variants were validated by targeted amplicon sequencing and/or PyroMark® Q24. RESULTS: We observed somatic coding variants present in >10% of sampled cells in at least 1% of brains...
September 14, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30214066/use-of-a-novel-computerized-decision-aid-for-aneuploidy-screening-a-randomized-controlled-trial
#7
Laura M Carlson, Sarah Harris, Emily E Hardisty, Ginger Hocutt, Diane Vargo, Erin Campbell, Elysia Davis, Kelly Gilmore, Neeta L Vora
PURPOSE: To assess whether knowledge following use of a decision aid (DA) for aneuploidy screening and testing is inferior to knowledge in women who saw a genetic counselor (GC) only. METHODS: This is a randomized controlled noninferiority trial of pregnant women at ≤22 weeks. Women who were scheduled for GC were randomly allocated to use a DA before GC or to GC alone. The primary outcome was knowledge score, comparing women who had used the DA only to those who saw GC alone...
September 14, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30214065/the-physician-patient-relationship-in-the-age-of-precision-medicine
#8
Gil Eyal, Maya Sabatello, Kathryn Tabb, Rachel Adams, Matthew Jones, Frank R Lichtenberg, Alondra Nelson, Kevin Ochsner, John Rowe, Deborah Stiles, Kavita Sivaramakrishnan, Kristen Underhill, Paul S Appelbaum
No abstract text is available yet for this article.
September 14, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30214064/increasing-genomic-literacy-among-adolescents
#9
Maya Sabatello, Ying Chen, Saskia C Sanderson, Wendy K Chung, Paul S Appelbaum
PURPOSE: Adolescents increasingly need to be "genomics literate," and may engage more with video educational formats than traditional written formats. We conducted a pilot study to assess and compare the impact of two modes of education about genome sequencing (GS) on adolescents' genomic knowledge and genomic-related decisions. METHODS: Using an online survey, 43 adolescents ages 14-17 years were randomly assigned to watch a video or read a pamphlet about GS...
September 14, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30209273/combining-newborn-metabolic-and-dna-analysis-for-second-tier-testing-of-methylmalonic-acidemia
#10
Gang Peng, Peidong Shen, Neeru Gandotra, Anthony Le, Eula Fung, Laura Jelliffe-Pawlowski, Ronald W Davis, Gregory M Enns, Hongyu Zhao, Tina M Cowan, Curt Scharfe
PURPOSE: Improved second-tier tools are needed to reduce false-positive outcomes in newborn screening (NBS) for inborn metabolic disorders on the Recommended Universal Screening Panel (RUSP). METHODS: We designed an assay for multiplex sequencing of 72 metabolic genes (RUSPseq) from newborn dried blood spots. Analytical and clinical performance was evaluated in 60 screen-positive newborns for methylmalonic acidemia (MMA) reported by the California Department of Public Health NBS program...
September 13, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30209271/parental-interest-in-genomic-sequencing-of-newborns-enrollment-experience-from-the-babyseq-project
#11
Casie A Genetti, Talia S Schwartz, Jill O Robinson, Grace E VanNoy, Devan Petersen, Stacey Pereira, Shawn Fayer, Hayley A Peoples, Pankaj B Agrawal, Wendi N Betting, Ingrid A Holm, Amy L McGuire, Susan E Waisbren, Timothy W Yu, Robert C Green, Alan H Beggs, Richard B Parad
PURPOSE: Newborn genomic sequencing (nGS) has great potential to improve pediatric care. Parental interest and concerns about genomics are relatively unexplored. Understanding why parents decline research consent for nGS may reveal implementation barriers. METHODS: We evaluated parental interest in a randomized trial of nGS in well-baby and intensive care unit nursery settings. Interested families attended an informational enrollment session (ES) with a genetic counselor prior to consenting...
September 13, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30209272/correction-effectiveness-of-plasma-lyso-gb3-as-a-biomarker-for-selecting-high-risk-patients-with-fabry-disease-from-multispecialty-clinics-for-genetic-analysis
#12
Hiroki Maruyama, Kaori Miyata, Mariko Mikame, Atsumi Taguchi, Chu Guili, Masaru Shimura, Kei Murayama, Takeshi Inoue, Saori Yamamoto, Koichiro Sugimura, Koichi Tamita, Toshihiro Kawasaki, Jun Kajihara, Akifumi Onishi, Hitoshi Sugiyama, Teiko Sakai, Ichijiro Murata, Takamasa Oda, Shigeru Toyoda, Kenichiro Hanawa, Takeo Fujimura, Shigehisa Ura, Mimiko Matsumura, Hideki Takano, Satoshi Yamashita, Gaku Matsukura, Ryushi Tazawa, Tsuyoshi Shiga, Mio Ebato, Hiroshi Satoh, Satoshi Ishii
The PDF and HTML versions of the article have been updated to include the Creative Commons Attribution 4.0 International License information.
September 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30206421/iqsec2-related-encephalopathy-in-males-and-females-a-comparative-study-including-37-novel-patients
#13
Cyril Mignot, Aoife C McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie-Line Jacquemont, Marilyn Tallot, Mathieu Milh, Patrick Edery, Pauline Marzin, Giulia Barcia, Christine Barnerias, Claude Besmond, Thierry Bienvenu, Ange-Line Bruel, Ledia Brunga, Berten Ceulemans, Christine Coubes, Ana G Cristancho, Fiona Cunningham, Marie-Bertille Dehouck, Elizabeth J Donner, Bénédicte Duban-Bedu, Christèle Dubourg, Elena Gardella, Julie Gauthier, David Geneviève, Stéphanie Gobin-Limballe, Ethan M Goldberg, Eveline Hagebeuk, Fadi F Hamdan, Miroslava Hančárová, Laurence Hubert, Christine Ioos, Shoji Ichikawa, Sandra Janssens, Hubert Journel, Anna Kaminska, Boris Keren, Marije Koopmans, Caroline Lacoste, Petra Laššuthová, Damien Lederer, Daphné Lehalle, Dragan Marjanovic, Julia Métreau, Jacques L Michaud, Kathryn Miller, Berge A Minassian, Joannella Morales, Marie-Laure Moutard, Arnold Munnich, Xilma R Ortiz-Gonzalez, Jean-Marc Pinard, Darina Prchalová, Audrey Putoux, Chloé Quelin, Alyssa R Rosen, Joelle Roume, Elsa Rossignol, Marleen E H Simon, Thomas Smol, Natasha Shur, Ivan Shelihan, Katalin Štěrbová, Emílie Vyhnálková, Catheline Vilain, Julie Soblet, Guillaume Smits, Samuel P Yang, Jasper J van der Smagt, Peter M van Hasselt, Marjan van Kempen, Sarah Weckhuysen, Ingo Helbig, Laurent Villard, Delphine Héron, Bobby Koeleman, Rikke S Møller, Gaetan Lesca, Katherine L Helbig, Rima Nabbout, Nienke E Verbeek, Christel Depienne
PURPOSE: Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences. METHODS: We collected the data of 37 unpublished patients (18 males and 19 females) with IQSEC2 pathogenic variants and 5 individuals with variants of unknown significance and reviewed published variants. We compared variant types and phenotypes in males and females and performed an analysis of IQSEC2 isoforms...
September 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30201961/correction-arterial-tortuosity-syndrome-40-new-families-and-literature-review
#14
Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, Ergun Cil, Paul J Coucke, Margot A Cousin, Majed Dasouki, Julie De Backer, Anne De Paepe, Sofie De Schepper, Deepthi De Silva, Koenraad Devriendt, Inge De Wandele, David R Deyle, Harry Dietz, Sophie Dupuis-Girod, Eudice Fontenot, Björn Fischer-Zirnsak, Alper Gezdirici, Jamal Ghoumid, Fabienne Giuliano, Neus Baena, Mohammed Z Haider, Joshua S Hardin, Xavier Jeunemaitre, Eric W Klee, Uwe Kornak, Manuel F Landecho, Anne Legrand, Bart Loeys, Stanislas Lyonnet, Helen Michael, Pamela Moceri, Shehla Mohammed, Laura Muiño-Mosquera, Sheela Nampoothiri, Karin Pichler, Katrina Prescott, Anna Rajeb, Maria Ramos-Arroyo, Massimiliano Rossi, Mustafa Salih, Mohammed Z Seidahmed, Elise Schaefer, Elisabeth Steichen-Gersdorf, Sehime Temel, Fahrettin Uysal, Marine Vanhomwegen, Lut Van Laer, Lionel Van Maldergem, David Warner, Andy Willaert, Tom R Collins Ii, Andrea Taylor, Elaine C Davis, Yuri Zarate, Bert Callewaert
In the published version of this paper the author Neus Baena's name was incorrectly given as Neus Baena Diez. This has now been corrected in both the HTML and PDF versions of the paper.
September 10, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30197419/hlbs-popomics-an-online-knowledge-base-to-accelerate-dissemination-and-implementation-of-research-advances-in-population-genomics-to-reduce-the-burden-of-heart-lung-blood-and-sleep-disorders
#15
George A Mensah, Wei Yu, Whitney L Barfield, Mindy Clyne, Michael M Engelgau, Muin J Khoury
Recent dramatic advances in multiomics research coupled with exponentially increasing volume, complexity, and interdisciplinary nature of publications are making it challenging for scientists to stay up-to-date on the literature. Strategies to address this challenge include the creation of online databases and warehouses to support timely and targeted dissemination of research findings. Although most of the early examples have been in cancer genomics and pharmacogenomics, the approaches used can be adapted to support investigators in heart, lung, blood, and sleep (HLBS) disorders research...
September 10, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30197418/low-level-parental-mosaicism-affects-the-recurrence-risk-of-holoprosencephaly
#16
Ping Hu, Ariel F Martinez, Paul Kruszka, Seth Berger, Erich Roessler, Maximilian Muenke
PURPOSE: De novo variants (DNVs) represent an important fraction of the pathogenic variant burden in holoprosencephaly (HPE). However, unexpected recurrences can occur, as evidenced by multiple affected children harboring the same apparently DNV. This study was performed to estimate the rate of parental mosaicism in a cohort of patients with HPE. METHODS: We developed a targeted capture next-generation sequencing (NGS) panel of 153 genes with potential implication in HPE...
September 10, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30190612/rare-variants-in-the-genetic-background-modulate-cognitive-and-developmental-phenotypes-in-individuals-carrying-disease-associated-variants
#17
Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A Rosenfeld, Katrin Mannik, Arjun Krishnan, Elizabeth McCready, Olivier Pichon, Cedric Le Caignec, Anke Van Dijck, Kate Pope, Els Voorhoeve, Jieun Yoon, Paweł Stankiewicz, Sau Wai Cheung, Damian Pazuchanics, Emily Huber, Vijay Kumar, Rachel L Kember, Francesca Mari, Aurora Curró, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Luana Mandarà, Marie Vincent, Mathilde Nizon, Sandra Mercier, Claire Bénéteau, Sophie Blesson, Dominique Martin-Coignard, Anne-Laure Mosca-Boidron, Jean-Hubert Caberg, Maja Bucan, Susan Zeesman, Małgorzata J M Nowaczyk, Mathilde Lefebvre, Laurence Faivre, Patrick Callier, Cindy Skinner, Boris Keren, Charles Perrine, Paolo Prontera, Nathalie Marle, Alessandra Renieri, Alexandre Reymond, R Frank Kooy, Bertrand Isidor, Charles Schwartz, Corrado Romano, Erik Sistermans, David J Amor, Joris Andrieux, Santhosh Girirajan
PURPOSE: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. METHODS: We analyzed quantitative clinical information, exome sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated variants. RESULTS: The number of rare likely deleterious variants in functionally intolerant genes ("other hits") correlated with expression of neurodevelopmental phenotypes in probands with 16p12...
September 7, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30190611/expanding-the-clinical-phenotype-of-individuals-with-a-3-bp-in-frame-deletion-of-the-nf1-gene-c-2970_2972del-an-update-of-genotype-phenotype-correlation
#18
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D Hicks, Arthur S Aylsworth, Amedeo A Azizi, Donald G Basel, Gary Bellus, Lynne M Bird, Maria A Blazo, Leah W Burke, Ashley Cannon, Felicity Collins, Colette DeFilippo, Ellen Denayer, Maria C Digilio, Shelley K Dills, Laura Dosa, Robert S Greenwood, Cristin Griffis, Punita Gupta, Rachel K Hachen, Concepción Hernández-Chico, Sandra Janssens, Kristi J Jones, Justin T Jordan, Peter Kannu, Bruce R Korf, Andrea M Lewis, Robert H Listernick, Fortunato Lonardo, Maurice J Mahoney, Mayra Martinez Ojeda, Marie T McDonald, Carey McDougall, Nancy Mendelsohn, David T Miller, Mari Mori, Rianne Oostenbrink, Sebastién Perreault, Mary Ella Pierpont, Carmelo Piscopo, Dinel A Pond, Linda M Randolph, Katherine A Rauen, Surya Rednam, S Lane Rutledge, Veronica Saletti, G Bradley Schaefer, Elizabeth K Schorry, Daryl A Scott, Andrea Shugar, Elizabeth Siqveland, Lois J Starr, Ashraf Syed, Pamela L Trapane, Nicole J Ullrich, Emily G Wakefield, Laurence E Walsh, Michael F Wangler, Elaine Zackai, Kathleen B M Claes, Katharina Wimmer, Rick van Minkelen, Alessandro De Luca, Yolanda Martin, Eric Legius, Ludwine M Messiaen
PURPOSE: Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associated with a mild phenotype without any externally visible tumors. METHODS: A total of 135 individuals from 103 unrelated families, all carrying the constitutional NF1 p...
September 7, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30190610/correction-effectiveness-of-plasma-lyso-gb3-as-a-biomarker-for-selecting-high-risk-patients-with-fabry-disease-from-multispecialty-clinics-for-genetic-analysis
#19
Hiroki Maruyama, Kaori Miyata, Mariko Mikame, Atsumi Taguchi, Chu Guili, Masaru Shimura, Kei Murayama, Takeshi Inoue, Saori Yamamoto, Koichiro Sugimura, Koichi Tamita, Toshihiro Kawasaki, Jun Kajihara, Akifumi Onishi, Hitoshi Sugiyama, Teiko Sakai, Ichijiro Murata, Takamasa Oda, Shigeru Toyoda, Kenichiro Hanawa, Takeo Fujimura, Shigehisa Ura, Mimiko Matsumura, Hideki Takano, Satoshi Yamashita, Gaku Matsukura, Ryushi Tazawa, Tsuyoshi Shiga, Mio Ebato, Hiroshi Satoh, Satoshi Ishii
In the above article, we noticed that one female patient in the positive group (plasma lyso-Gb3 7.6 ng/ml, α-galactosidase A activity 4.9 nmol/h/ml) who presented at the neurology clinic was already diagnosed with Fabry disease before the current study. We excluded patients with a confirmed diagnosis of Fabry disease and those with relatives known to have Fabry disease. To accurately describe the information in the current study, we must exclude this patient from the analysis. We have accurately revised this information as follows...
September 7, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30181607/development-of-clinical-domain-working-groups-for-the-clinical-genome-resource-clingen-lessons-learned-and-plans-for-the-future
#20
Laura V Milko, Birgit H Funke, Ray E Hershberger, Danielle R Azzariti, Kristy Lee, Erin R Riggs, Edgar A Rivera-Munoz, Meredith A Weaver, Annie Niehaus, Erin L Currey, William J Craigen, Rong Mao, Kenneth Offit, Robert D Steiner, Christa L Martin, Heidi L Rehm, Michael S Watson, Erin M Ramos, Sharon E Plon, Jonathan S Berg
The Clinical Genome Resource (ClinGen) is supported by the National Institutes of Health (NIH) to develop expertly curated and freely accessible resources defining the clinical relevance of genes and variants for use in precision medicine and research. To facilitate expert input, ClinGen has formed Clinical Domain Working Groups (CDWGs) to leverage the collective knowledge of clinicians, laboratory diagnosticians, and researchers. In the initial phase of ClinGen, CDWGs were launched in the cardiovascular, hereditary cancer, and inborn errors of metabolism clinical fields...
September 5, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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