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Journals
Genetics in Medicine : Officia...
Genetics in Medicine : Official Journal of the American College of Medical Genetics
#1
JOURNAL ARTICLE
Jan M Friedman, Yvonne Bombard, Bruce Carleton, Amalia M Issa, Bartha Knoppers, Sharon E Plon, Vasiliki Rahimzadeh, Mary V Relling, Marc S Williams, Clara van Karnebeek, Danya Vears, Martina C Cornel
This white paper was prepared by the Global Alliance for Genomics and Health Regulatory and Ethics Work Stream's Pediatric Task Team to review and provide perspective with respect to ethical, legal, and social issues regarding the return of secondary pharmacogenomic variants in children who have a serious disease or developmental disorder and are undergoing exome or genome sequencing to identify a genetic cause of their condition. We discuss actively searching for and reporting pharmacogenetic/genomic variants in pediatric patients, different methods of returning secondary pharmacogenomic findings to the patient/parents and/or treating clinicians, maintaining these data in the patient's health record over time, decision supports to assist using pharmacogenetic results in future treatment decisions, and sharing information in public databases to improve the clinical interpretation of pharmacogenetic variants identified in other children...
November 22, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#2
JOURNAL ARTICLE
Roelof Koster, Luuk J Schipper, Noor A A Giesbertz, Daphne van Beek, Matías Mendeville, Kris G Samsom, Efraim H Rosenberg, Frans B L Hogervorst, Paul Roepman, Mirjam C Boelens, Linda J W Bosch, Jose G van den Berg, Gerrit A Meijer, Emile E Voest, Edwin Cuppen, Marielle W G Ruijs, Tom van Wezel, Lizet van der Kolk, Kim Monkhorst
PurposeGenome sequencing (GS) enables comprehensive molecular analysis of tumours and identification of hereditary cancer predisposition. According to guidelines, directly determining pathogenic germline variants (PGVs) requires pre-test genetic counselling, which is cost-ineffective. Referral for genetic counselling based on tumour variants alone could miss relevant PGVs and/or result in unnecessary referrals. MethodsWe validated GS for detection of germline variants and simulated three strategies using paired tumour-normal genome sequencing data of 937 metastatic patients...
November 22, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#3
JOURNAL ARTICLE
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, Katherine S Josephs, Fowzan S Alkuraya, Joanna Amberger, Mutaz Amin, Jonathan S Berg, Fiona Cunningham, Karen Eilbeck, Helen V Firth, Julia Foreman, Ada Hamosh, Eleanor Hay, Sarah Leigh, Christa L Martin, Ellen M McDonagh, Daniel Perrett, Erin M Ramos, Peter N Robinson, Ana Rath, David W Sant, Zornitza Stark, Nicola Whiffin, Heidi L Rehm, James S Ware
PURPOSE: The terminology used for gene-disease curation and variant annotation to describe inheritance, allelic requirement, and both sequence and functional consequences of a variant is currently not standardized. There is considerable discrepancy in the literature and across clinical variant reporting in the derivation and application of terms. Here we standardize the terminology for the characterization of disease-gene relationships to facilitate harmonized global curation, and to support variant classification within the ACMG/AMP framework...
November 16, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#4
REVIEW
Sajjad Biglari, Atefeh Sohanforooshan Moghaddam, Mohammad Amin Tabatabaiefar, Roya Sherkat, Leila Youssefian, Amir Hossein Saeidian, Fatemeh Vahidnezhad, Lam C Tsoi, Johann E Gudjonsson, Hakon Hakonarson, Jean-Laurent Casanova, Vivien Béziat, Emmanuelle Jouanguy, Hassan Vahidnezhad
PURPOSE: Persistent human papillomavirus infection (PHPVI) causes cutaneous, anogenital, and mucosal warts. Cutaneous warts include common warts, Treeman syndrome, and epidermodysplasia verruciformis, among others. Although more reports of monogenic predisposition to PHPVI have been published with the development of genomic technologies, genetic testing is rarely incorporated into clinical assessments. To encourage broader molecular testing, we compiled a list of the various monogenic etiologies of PHPVI...
November 14, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#5
JOURNAL ARTICLE
Karthik Muthusamy, Judit M Perez-Ortiz, Anna N Ligezka, Ruqaiah Altassan, Christin Johnsen, Matthew J Schultz, Marc C Patterson, Eva Morava
PURPOSE: In the absence of prospective data on neurological symptoms, disease outcome, or guidelines for system specific management in PMM2-CDG, we aimed to collect and review natural history data. METHODS: Fifty-one molecularly confirmed individuals with PMM2-CDG enrolled in the FCDGC natural history study were reviewed. In addition, we prospectively reviewed a smaller cohort of these individuals with PMM2-CDG on off-label acetazolamide treatment. RESULTS: Mean age at diagnosis was 28...
November 10, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#6
JOURNAL ARTICLE
Lauren Jeffries, Emily K Mis, Kirsty McWalter, Sandra Donkervoort, Nina N Brodsky, Jean-Marie Carpier, Weizhen Ji, Cristian Ionita, Bhaskar Roy, Jon S Morrow, Armine Darbinyan, Krishna Iyer, Ritu B Aul, Siddharth Banka, Katherine R Chao, Laura Cobbold, Stacey Cohen, Helena M Custodio, Margaret Drummond-Borg, Frances Elmslie, Erika Finanger, Bryan E Hainline, Ingo Helbig, Stacy Hewson, Ying Hu, Adam Jackson, Dragana Josifova, Monica Konstantino, Meganne E Leach, Bryan Mak, David McCormick, Elisabeth McGee, Stanley Nelson, Joanne Nguyen, Kimberly Nugent, Lucy Ortega, Howard P Goodkin, Elizabeth Roeder, Sani Roy, Katie Sapp, Dimah Saade, Sanjay M Sisodiya, Karen Stals, Shelley Towner, William Wilson, Mustafa K Khokha, Carsten G Bönnemann, Carrie L Lucas, Saquib A Lakhani
PURPOSE: We sought to delineate a multisystem disorder caused by recessive CRELD1 variants. METHODS: The impact of CRELD1 variants was characterized through an international collaboration utilizing next generation DNA sequencing, gene knockdown and protein overexpression in Xenopus tropicalis, and in vitro analysis of patient immune cells. RESULTS: Biallelic variants in CRELD1 were found in 18 participants from 14 families. Affected individuals displayed an array of phenotypes involving developmental delay, early-onset epilepsy, and hypotonia, with about half demonstrating cardiac arrhythmias and some experiencing recurrent infections...
November 6, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#7
JOURNAL ARTICLE
Taila Hartley, Deborah Marshall, Meryl Acker, Katharine Fooks, Meredith K Gillespie, E Magda Price, Ian D Graham, Alexandre White-Brown, Layla MacKay, Stella K Macdonald, Lauren Brady, Angela Y Hui, Joseph D Andrews, Ashfia Chowdhury, Erika Wall, Élisabeth Soubry, Grace Uwaila Ediae, Samantha Rojas, Daniel Assamad, David Dyment, Mark Tarnopolsky, Sarah L Sawyer, Caitlin Chisholm, Gabrielle Lemire, Kimberly Amburgey, Joanna Lazier, Roberto Mendoza-Londono, James J Dowling, Tugce B Balci, Christine M Armour, Priya T Bhola, Gregory Costain, Lucie Dupuis, Melissa Carter, Lauren Badalato, Julie Richer, Christie Boswell-Patterson, Peter Kannu, Dawn Cordeiro, Jodi Warman-Chardon, Gail Graham, Victoria Mok Siu, Cheryl Cytrynbaum, Alison Rusnak, Ritu B Aul, Grace Yoon, Hernan Gonorazky, Vanda McNiven, Saadet Mercimek-Andrews, Andrea Guerin, Ashish R Deshwar, Ashish Marwaha, Rosanna Weksberg, Natalya Karp, Maggie Campbell, Sarah Al-Qattan, Andrew Y Shuen, Michal Inbar-Feigenberg, Ronald Cohn, Anna Szuto, Cara Inglese, Myriam Poirier, Lauren Chad, Beth Potter, Kym M Boycott, Robin Hayeems
PURPOSE: To evaluate the diagnostic utility of publicly-funded clinical exome sequencing (ES) for patients with suspected rare genetic diseases (RGDs). METHODS: We prospectively enrolled 297 probands who met eligibility criteria and received ES across five sites in Ontario, Canada, and extracted data from medical records and clinician surveys. Using the Fryback and Thornbury Efficacy Framework, we assessed diagnostic accuracy by examining laboratory interpretation of results and assessed diagnostic thinking by examining the clinical interpretation of results and whether clinical-molecular diagnoses would have been achieved via alternative hypothetical molecular tests...
November 1, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#8
JOURNAL ARTICLE
Theresa Brunet, Benedikt Zott, Victoria Lieftüchter, Dominic Lenz, Axel Schmidt, Philipp Peters, Robert Kopajtich, Malin Zaddach, Hanna Zimmermann, Irina Hüning, Diana Ballhausen, Christian Staufner, Alyssa Bianzano, Joanne Hughes, Robert W Taylor, Robert McFarland, Anita Devlin, Mihaela Mihaljević, Nina Barišić, Meino Rohlfs, Sibylle Wilfling, Neal Sondheimer, Stacy Hewson, Nikolaos M Marinakis, Konstantina Kosma, Joanne Traeger-Synodinos, Miriam Elbracht, Matthias Begemann, Sonja Trepels-Kottek, Dimah Hasan, Marcello Scala, Valeria Capra, Federico Zara, Amelie T van der Ven, Joenna Driemeyer, Christian Apitz, Johannes Krämer, Alanna Strong, Hakon Hakonarson, Deborah Watson, Johannes A Mayr, Holger Prokisch, Thomas Meitinger, Ingo Borggraefe, Juliane Spiegler, Ivo Baric, Marco Paolini, Lucia Gerstl, Matias Wagner
PURPOSE: RNF213, encoding a giant E3 ubiquitin ligase, has been recognized for its role as a key susceptibility gene for moyamoya disease (MMD). Case reports have also implicated specific variants in RNF213 with an early-onset form of MMD with full penetrance. We aimed to expand the phenotypic spectrum of monogenic RNF213-related disease and to evaluate genotype-phenotype correlations. METHODS: Patients were identified through reanalysis of exome sequencing (ES) data of an unselected cohort of unsolved pediatric cases and through GeneMatcher or ClinVar...
October 31, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#9
JOURNAL ARTICLE
Asem Berkalieva, Nicole R Kelly, Ashley Fisher, Samuel F Hohmann, Monisha Sebastin, Miranda Di Biase, Katherine E Bonini, Priya Marathe, Jacqueline A Odgis, Sabrina A Suckiel, Michelle A Ramos, Rosamond Rhodes, Noura S Abul-Husn, John M Greally, Carol R Horowitz, Melissa P Wasserstein, Eimear E Kenny, Bruce D Gelb, Bart S Ferket
PURPOSE: To better understand the effects of returning diagnostic sequencing results on clinical actions and economic outcomes for pediatric patients with suspected genetic disorders. METHODS: Longitudinal physician claims data after diagnostic sequencing were obtained for patients aged 0-21 years with neurologic, cardiac, and immunologic disorders with suspected genetic etiology. We assessed specialist consultation rates prompted by primary diagnostic results, as well as marginal effects on overall 18-month physician services and costs...
October 25, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#10
JOURNAL ARTICLE
K N James, S Chowdhury, Y Ding, S Batalov, K Watkins, Y H Kwon, L Van Der Kraan, K Ellsworth, S F Kingsmore, L Guidugli
PURPOSE: Copy number variants (CNVs) and other non-SNV/indel variant types contribute an important proportion of diagnoses in individuals with suspected genetic disease. This study describes the range of such variants detected by genome sequencing (GS). METHODS: For a pediatric cohort of 1032 participants undergoing clinical GS, we characterize the CNVs and other non-SNV/indel variant types that were reported, including aneuploidies, mobile element insertions, and uniparental disomies, and we describe the bioinformatic pipeline used to detect these variants...
October 20, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#11
JOURNAL ARTICLE
Katerina S Kucera, Beth Lincoln Boyea, Brooke Migliore, Sarah Nelson Potter, Veronica R Robles, Oksana Kutsa, Heidi Cope, Katherine C Okoniewski, Anne Wheeler, Catherine W Rehder, Edward C Smith, Holly L Peay
PURPOSE: Current and emerging treatments for Duchenne muscular dystrophy (DMD) position DMD as a candidate condition for newborn screening (NBS). In anticipation of the nomination of DMD for universal NBS, we conducted a prospective study under the Early Check voluntary NBS research program in North Carolina, USA. METHODS: We performed screening for creatine kinase-MM (CK-MM), a biomarker of muscle damage, on residual routine newborn dried blood spots (DBS) from participating newborns...
October 17, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#12
JOURNAL ARTICLE
Nina B Gold, Allan Nadel, Robert C Green
No abstract text is available yet for this article.
October 17, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#13
JOURNAL ARTICLE
Quentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, Chloé Trouvé, Jeanne Amiel, Tania Attié-Bitach, Tugce Balci, Mouna Barat-Houari, Alyce Belonis, Odile Boute, Diana S Brightman, Ange-Line Bruel, Stefano Giuseppe Caraffi, Nicolas Chatron, Corinne Collet, William Dufour, Patrick Edery, Chin-To Fong, Carlo Fusco, Vincent Gatinois, Evan Gouy, Anne-Marie Guerrot, Solveig Heide, Aakash Joshi, Natalya Karp, Boris Keren, Marion Lesieur-Sebellin, Jonathan Levy, Michael A Levy, Claire Lozano, Stanislas Lyonnet, Henri Margot, Pauline Marzin, Haley McConkey, Vincent Michaud, Gaël Nicolas, Mevyn Nizard, Alix Paulet, Francesca Peluso, Vincent Pernin, Laurence Perrin, Christophe Philippe, Chitra Prasad, Madhavi Prasad, Raissa Relator, Marlène Rio, Sophie Rondeau, Valentin Ruault, Nathalie Ruiz-Pallares, Elodie Sanchez, Debbie Shears, Victoria Mok Siu, Arthur Sorlin, Matthew Tedder, Mylène Tharreau, Frédéric Tran Mau-Them, Liselot van der Laan, Julien Van Gils, Alain Verloes, Sandra Whalen, Marjolaine Willems, Kévin Yauy, Roberta Zuntini, Jennifer Kerkhof, Bekim Sadikovic, David Geneviève
PURPOSE: BCL11B-related disorder (BCL11B-RD) arises from rare genetic variants within the BCL11B gene, resulting in a distinctive clinical spectrum encompassing syndromic neurodevelopmental disorder, with or without intellectual disability, associated with facial features and impaired immune function. This study presents an in-depth clinico-biological analysis of 20 newly reported individuals with BCL11B-RD, coupled with a characterization of genome-wide DNA methylation patterns of this genetic condition...
October 17, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#14
JOURNAL ARTICLE
Yunjia Chen, Ender Karaca, Nathaniel H Robin, Dana Goodloe, Ali Al-Beshri, S Joy Dean, Anna C E Hurst, Andrew J Carroll, Fady M Mikhail
PURPOSE: Multiple studies suggest an association between DLG2 and neurodevelopmental disorders and indicate the haploinsufficiency of this gene; however, few cases have been thoroughly described. We performed additional studies to confirm this clinical association and DLG2 haploinsufficiency. METHODS: Chromosomal microarray analysis was performed on 11,107 patients at the UAB Cytogenetics Laboratory. The DGV-GSV and gnomAD were selected for the association analysis...
October 16, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#15
JOURNAL ARTICLE
Erin Turbitt, Jennefer N Kohler, Kyle Brothers, Simon M Outram, Christine Rini, Nuriye Sahin-Hodoglugil, Michael C Leo, Barbara B Biesecker
PURPOSE: We aimed to adapt and validate an existing patient-reported outcome measure, the Personal Utility (PrU) scale, for use in the pediatric genomic context. METHODS: We adapted the adult version of the PrU and obtained feedback from six parents whose child had undergone sequencing. The resulting measure, the Parent PrU, was administered to parents of children in four pediatric cohorts of the Clinical Sequencing Evidence-Generating Research (CSER) consortium after they received their children's genomic results...
October 12, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#16
JOURNAL ARTICLE
Fen Guo, Ruby Liu, Yinghong Pan, Christin Collins, Lora Bean, Zeqiang Ma, Abhinav Mathur, Cristina Da Silva, Babi Nallamilli, Naga Guruju, Xiangwen Chen-Deutsch, Rizwan Yousaf, Ephrem Chin, Jorune Balciuniene, Madhuri Hegde
PURPOSE: Genome sequencing (GS) is one of the most comprehensive assays that interrogate single-nucleotide variants, copy number variants, mitochondrial variants, repeat expansions, and structural variants in a single assay. Despite the clear technical superiority, the full clinical utility of GS has yet to be determined. METHODS: We systematically evaluated 2100 clinical GS index cases performed in our laboratory to explore the diagnostic yield of GS as first-tier and as follow-up testing...
October 12, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#17
JOURNAL ARTICLE
K Jameson Floyd, Faeben Wossenseged, Ashley J Buscetta, Grace-Ann Fasaye, Vence L Bonham
PURPOSE: While the body of research investigating research participants' opinions on the return of actionable secondary genomic findings results (RoR) grows, there has been limited study of individuals with genetic conditions, such as sickle cell disease (SCD). It is imperative that the views of diverse research participants on RoR be investigated and rooted in the context of advancing health equity in genomics research. METHODS: We conducted qualitative, semi-structured interviews with 30 adults living with SCD with differing insurance coverages and utilized a directed content analysis to derive t: hemes...
October 6, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#18
JOURNAL ARTICLE
Isabel Spier, Xiaoyu Yin, Marcy Richardson, Marta Pineda, Andreas Laner, Deborah Ritter, Julie Boyle, Pilar Mur, Thomas V O Hansen, Xuemei Shi, Khalid Mahmood, John-Paul Plazzer, Elisabet Ognedal, Margareta Nordling, Susan M Farrington, Gou Yamamoto, Stéphanie Baert-Desurmont, Alexandra Martins, Ester Borras, Carli Tops, Erica Webb, Victoria Beshay, Maurizio Genuardi, Tina Pesaran, Gabriel Capellá, Sean V Tavtigian, Andrew Latchford, Ian M Frayling, Sharon E Plon, Marc Greenblatt, Finlay A Macrae, Stefan Aretz
PURPOSE: The Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel (VCEP) was established by the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) and the Clinical Genome Resource (ClinGen), who set out to develop recommendations for the interpretation of germline APC variants underlying Familial Adenomatous Polyposis (FAP), the most frequent hereditary polyposis syndrome. METHODS: Through a rigorous process of database analysis, literature review, and expert elicitation, the APC VCEP derived gene-specific modifications to the ACMG/AMP (American College of Medical Genetics and Genomics and Association for Molecular Pathology) variant classification guidelines and validated such criteria through the pilot classification of 58 variants...
October 3, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#19
JOURNAL ARTICLE
Madeline Currey, Ilana Solomon, Sarah McGraw, Jenny Shen, Francisco Munoz, Ernesto Sosa, Vanessa Puello-Lozano, Sam Wing, Lisa Lopez, Michelle Afkhami, Janine Lobello, Szabolcs Szelinger, Stacy W Gray
PURPOSE: We conducted qualitative interviews with cancer patients and providers to identify gaps in clinical care and highlight care delivery solutions for the return of secondary germline findings. METHODS: Twelve patients and 19 cancer providers from the United States were interviewed between January 2019 - May 2021. Interviews elicited feedback about patient information needs, emotional responses to secondary findings and recommendations for improving pre-test education...
October 1, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#20
JOURNAL ARTICLE
Kirstine Stochholm, Camilla Holmgård, Shanlee Marie Davis, Claus H Gravholt, Agnethe Berglund
PURPOSE: To assess the population-based incidence, prevalence, and age at diagnosis of individuals with 45,X/46,XY mosaicism (and associated variants) and describe the associated mortality pattern. In addition, a systematic literature review of papers providing prevalence data of 45,X/46,XY mosaicism was performed. METHODS: A population-based epidemiological study of all individuals diagnosed with 45,X/46,XY mosaicism between 1960-2019. Mortality was analyzed using data from the Danish Causes of Death Register...
September 28, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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