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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/30410095/nonimmune-hydrops-fetalis-identifying-the-underlying-genetic-etiology
#1
Teresa N Sparks, Kao Thao, Billie R Lianoglou, Nina M Boe, Kari G Bruce, Ilina Datkhaeva, Nancy T Field, Victoria M Fratto, Jennifer Jolley, Louise C Laurent, Anne H Mardy, Aisling M Murphy, Emily Ngan, Naseem Rangwala, Catherine A M Rottkamp, Lisa Wilson, Erica Wu, Cherry C Uy, Priscila Valdez Lopez, Mary E Norton
PURPOSE: Numerous etiologies may lead to nonimmune hydrops fetalis (NIHF), and the underlying cause often remains unclear. We aimed to determine the proportion of NIHF cases in which the etiology was clearly determined in a large, contemporary, and diverse cohort, as well as to describe the etiologies with a focus on genetic causes. METHODS: Retrospective review of NIHF cases between 2015 and 2017 from the five University of California Fetal-Maternal Consortium sites...
November 9, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30405208/genomic-mosaicism-in-the-pathogenesis-and-inheritance-of-a-rett-syndrome-cohort
#2
Qingping Zhang, Xiaoxu Yang, Jiaping Wang, Jiarui Li, Qixi Wu, Yongxin Wen, Ying Zhao, Xiaoying Zhang, He Yao, Xiru Wu, Shujie Yu, Liping Wei, Xinhua Bao
PURPOSE: To determine the role of mosaicism in the pathogenesis and inheritance of Rett and Rett-like disorders. METHODS: We recruited 471 Rett and Rett-like patients. Panel-sequencing targeting MECP2, CDKL5, and FOXG1 was performed. Mosaicism was quantified in 147 patients by a Bayesian genotyper. Candidates were validated by amplicon sequencing and digital PCR. Germline mosaicism of 21 fathers with daughters carrying pathogenic MECP2 variants was further quantified...
November 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30393377/eklipse-a-sensitive-tool-for-the-detection-and-quantification-of-mitochondrial-dna-deletions-from-next-generation-sequencing-data
#3
David Goudenège, Celine Bris, Virginie Hoffmann, Valerie Desquiret-Dumas, Claude Jardel, Benoit Rucheton, Sylvie Bannwarth, Veronique Paquis-Flucklinger, Anne Sophie Lebre, Estelle Colin, Patrizia Amati-Bonneau, Dominique Bonneau, Pascal Reynier, Guy Lenaers, Vincent Procaccio
PURPOSE: Accurate detection of mitochondrial DNA (mtDNA) alterations is essential for the diagnosis of mitochondrial diseases. The development of high-throughput sequencing technologies has enhanced the detection sensitivity of mtDNA pathogenic variants, but the detection of mtDNA rearrangements, especially multiple deletions, is still poorly processed. Here, we present eKLIPse, a sensitive and specific tool allowing the detection and quantification of large mtDNA rearrangements from single and paired-end sequencing data...
November 5, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30393376/foundation-of-the-newborn-screening-translational-research-network-and-its-tools-for-research
#4
REVIEW
Michele Lloyd-Puryear, Amy Brower, Susan A Berry, Jeffrey P Brosco, Bruce Bowdish, Michael S Watson
In the past 20 years, several policy activities were undertaken that shaped today's newborn screening (NBS) programs and their associated NBS research activities: the Newborn Screening Task Force Report; the Child Health Act of 2000, Screening for Heritable Disorders; the American College of Medical Genetics and Genomics' (ACMG's) Newborn Screening Uniform Panel; and the ACMG expert panel to examine the development of a national collaborative study system for rare genetic diseases. These activities helped conceptualize the Newborn Screening Translational Research Network (NBSTRN) infrastructure and lay the foundation for its current activities...
November 5, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30385887/increasing-evidence-of-combinatory-variant-effects-calls-for-revised-classification-of-low-penetrance-alleles
#5
Nicholas K Wang, John P W Chiang
No abstract text is available yet for this article.
November 2, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30385886/disparities-in-genetic-services-utilization-in-a-random-sample-of-young-breast-cancer-survivors
#6
Christos Nikolaidis, Debra Duquette, Kari E Mendelsohn-Victor, Beth Anderson, Glenn Copeland, Kara J Milliron, Sofia D Merajver, Nancy K Janz, Laurel L Northouse, Sonia A Duffy, Maria C Katapodi
PURPOSE: Increasing use of genetic services (counseling/testing) among young breast cancer survivors (YBCS) can help decrease breast cancer incidence and mortality. The study examined use of genetic services between Black and White/Other YBCS, attitudes and knowledge of breast cancer risk factors, and reasons for disparities in using genetic services. METHODS: We used baseline data from a randomized control trial including a population-based, stratified random sample of 3000 potentially eligible YBCS, with oversampling of Black YBCS...
November 2, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30382154/knowledge-motivations-expectations-and-traits-of-an-african-african-american-and-afro-caribbean-sequencing-cohort-and-comparisons-to-the-original-clinseq-%C3%A2-cohort
#7
Katie L Lewis, Alexis R Heidlebaugh, Sandra Epps, Paul K J Han, Kristen P Fishler, William M P Klein, Ilana M Miller, David Ng, Charlotte Hepler, Barbara B Biesecker, Leslie G Biesecker
PURPOSE: Racial minority populations are underrepresented in genomics research. This study enrolled African-descended individuals in a sequencing study and reported their characteristics. METHODS: We purposively recruited 467 individuals self-identified as African, African American, or Afro-Caribbean to the ClinSeq® study and surveyed them about knowledge, motivations, expectations, and traits. Summary statistics were calculated and compared with data from the study's original cohort, which was primarily White and self-referred...
November 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30377384/stakeholders-views-on-the-value-of-outcomes-from-clinical-genetic-and-genomic-interventions
#8
Maren T Scheuner, Marcia M Russell, Catherine Chanfreau-Coffinier, Jane Peredo, Elizabeth M Yano, Alison B Hamilton, Barbara Lerner, Dawn Provenzale, Sara J Knight, Corrine I Voils
PURPOSE: Robust evidence about the value of clinical genomic interventions (CGIs), such as genetic/genomic testing or clinical genetic evaluation, is limited. We obtained stakeholders' perspectives on outcomes from CGIs to help inform their value. METHODS: We used an adapted Delphi expert panel process. Two anonymous survey rounds assessed the value of 44 CGI outcomes and whether a third party should pay for them, with discussion in between rounds. RESULTS: Sixty-six panelists responded to the first-round survey and 60 to the second...
October 31, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30377383/biallelic-sequence-and-structural-variants-in-rax2-are-a-novel-cause-for-autosomal-recessive-inherited-retinal-disease
#9
Stijn Van de Sompele, Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil, Frank Peelman, Timothy Cherry, Toon Rosseel, Hannah Verdin, Julien Derolez, Thalia Van Laethem, Kamron N Khan, Martin McKibbin, Carmel Toomes, Manir Ali, Annalaura Torella, Francesco Testa, Belen Jimenez, Francesca Simonelli, Julie De Zaeytijd, Jenneke Van den Ende, Bart P Leroy, Frauke Coppieters, Carmen Ayuso, Chris F Inglehearn, Sandro Banfi, Elfride De Baere
PURPOSE: RAX2 encodes a homeobox-containing transcription factor, in which four monoallelic pathogenic variants have been described in autosomal dominant cone-dominated retinal disease. METHODS: Exome sequencing in a European cohort with inherited retinal disease (IRD) (n = 2086) was combined with protein structure modeling of RAX2 missense variants, bioinformatics analysis of deletion breakpoints, haplotyping of RAX2 variant c.335dup, and clinical assessment of biallelic RAX2-positive cases and carrier family members...
October 31, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30377382/improved-diagnostics-by-exome-sequencing-following-raw-data-reevaluation-by-clinical-geneticists-involved-in-the-medical-care-of-the-individuals-tested
#10
Lina Basel Salmon, Naama Orenstein, Keren Markus-Bustani, Noa Ruhrman-Shahar, Yael Kilim, Nurit Magal, Monika Weisz Hubshman, Lily Bazak
PURPOSE: Reanalysis of exome sequencing data when results are negative may yield additional diagnoses. We sought to estimate the contribution of clinical geneticists to the interpretation of sequencing data of their patients. METHODS: The cohort included 84 probands attending a tertiary genetics institute (2015-2018) with a nondiagnostic result on clinical exome sequencing performed in one of five external laboratories. The raw data were uploaded to the Emedgene bioinformatics and interpretation platform for reanalysis by a team of two clinical geneticists, the geneticist directly involved in the patient's care, and a bioinformatician...
October 31, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30374176/outcomes-of-92-patient-driven-family-studies-for-reclassification-of-variants-of-uncertain-significance
#11
Ginger J Tsai, John Michael O Rañola, Christina Smith, Lauren Thomas Garrett, Timothy Bergquist, Silvia Casadei, Deborah J Bowen, Brian H Shirts
PURPOSE: Family studies are an important but underreported source of information for reclassification of variants of uncertain significance (VUS). We evaluated outcomes of a patient-driven framework that offered familial VUS reclassification analysis to any adult with any clinically ascertained VUS from any laboratory in the United States. METHODS: With guidance from FindMyVariant.org, participants recruited their own relatives for study participation. We genotyped relatives, calculated quantitative cosegregation likelihood ratios, and evaluated variant classifications using Tavtigian's unified framework for Bayesian analysis with American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria...
October 30, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30369598/population-data-improves-variant-interpretation-in-autosomal-dominant-polycystic-kidney-disease
#12
Amali C Mallawaarachchi, Timothy J Furlong, John Shine, Peter C Harris, Mark J Cowley
PURPOSE: Autosomal dominant polycystic kidney disease (ADPKD) is a common adult-onset monogenic disorder, with prevalence of 1/1000. Population databases including ExAC have improved pathogenic variant prioritization in many diseases. Due to pseudogene homology of PKD1, the predominant ADPKD disease gene, and the variable disease severity and age of onset, we aimed to investigate the utility of ExAC for variant assessment in ADPKD. METHODS: We assessed coverage and variant quality in the ExAC cohort and combined allele frequency and age data from the ExAC database (n = 60,706) with curated variants from 2000 ADPKD pedigrees (ADPKD Mutation Database)...
October 29, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30369597/giving-adolescents-a-voice-the-types-of-genetic-information-adolescents-choose-to-learn-and-why
#13
Josie Pervola, Melanie F Myers, Michelle L McGowan, Cynthia A Prows
PURPOSE: The American College of Medical Genetics and Genomics supports parents' opting in or out of secondary analysis of 59 genes when their child has clinical exome/genome sequencing. We explored the reasons adolescents choose to learn certain types of results and the reasons they want to involve or not involve parents in decision-making. METHODS: Adolescents recruited without clinical indication were offered independent, followed by joint choices with a parent to learn genomic results...
October 29, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30356099/the-phenotypic-spectrum-of-wwox-related-disorders-20-additional-cases-of-woree-syndrome-and-review-of-the-literature
#14
Juliette Piard, Lara Hawkes, Mathieu Milh, Laurent Villard, Renato Borgatti, Romina Romaniello, Melanie Fradin, Yline Capri, Delphine Héron, Marie-Christine Nougues, Caroline Nava, Oana Tarta Arsene, Debbie Shears, Yoshimi Sogawa, Diana Johnson, Helen Firth, Pradeep Vasudevan, Gabriela Jones, Marie-Ange Nguyen-Morel, Tiffany Busa, Agathe Roubertie, Myrthe van den Born, Elise Brischoux-Boucher, Michel Koenig, Cyril Mignot, Usha Kini, Christophe Philippe
PURPOSE: Germline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic encephalopathy (WOREE syndrome). We review clinical and molecular data on WWOX-related disorders, further describing WOREE syndrome and phenotype/genotype correlations. METHODS: We report clinical and molecular findings in 20 additional patients from 18 unrelated families with WOREE syndrome and biallelic pathogenic variants in the WWOX gene...
October 25, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30353149/a-logic-model-for-precision-medicine-implementation-informed-by-stakeholder-views-and-implementation-science
#15
Catherine Chanfreau-Coffinier, Jane Peredo, Marcia M Russell, Elizabeth M Yano, Alison B Hamilton, Barbara Lerner, Dawn Provenzale, Sara J Knight, Corrine I Voils, Maren T Scheuner
PURPOSE: Precision medicine promises to improve patient outcomes, but much is unknown about its adoption within health-care systems. A comprehensive implementation plan is needed to realize its benefits. METHODS: We convened 80 stakeholders for agenda setting to inform precision medicine policy, delivery, and research. Conference proceedings were audio-recorded, transcribed, and thematically analyzed. We mapped themes representing opportunities, challenges, and implementation strategies to a logic model, and two implementation science frameworks provided context...
October 23, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30349099/a-framework-to-build-capacity-for-a-reflex-testing-program-for-lynch-syndrome
#16
Vanessa N Palter, Natalie A Baker, Linda Rabeneck, Jill Tinmouth, Anna R Gagliardi, Erin D Kennedy, June C Carroll, Steven Gallinger, Nancy N Baxter
PURPOSE: Lynch syndrome (LS) is the most common inherited cause of colorectal cancer. Although testing all colorectal tumors for LS is recommended, the uptake of reflex-testing programs within health systems has been limited. This multipronged study describes the design of a provincial program for reflex testing in Ontario, Canada. METHODS: We recruited key stakeholders to participate in qualitative interviews to explore the barriers and facilitators to the implementation of a reflex-testing program...
October 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30349098/the-arid1b-spectrum-in-143-patients-from-nonsyndromic-intellectual-disability-to-coffin-siris-syndrome
#17
Eline P J van der Sluijs, Sandra Jansen, Samantha A Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila AlKindy, Anwar Baban, Allan Bayat, Stefanie Beck-Wödl, Katherine Berry, Emilia K Bijlsma, Levinus A Bok, Alwin F J Brouwer, Ineke van der Burgt, Philippe M Campeau, Natalie Canham, Krystyna Chrzanowska, Yoyo W Y Chu, Brain H Y Chung, Karin Dahan, Marjan De Rademaeker, Anne Destree, Tracy Dudding-Byth, Rachel Earl, Nursel Elcioglu, Ellen R Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R Heitink, Johanna C Herkert, Nicolette S den Hollander, Denise Horn, David Hunt, Sarina G Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra Kilic, Malgorzata Krajewska-Walasek, Kylin Lammers, Lone W Laulund, Damien Lederer, Melissa Lees, Vanesa López-González, Saskia Maas, Grazia M S Mancini, Carlo Marcelis, Francisco Martinez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff Milunsky, Seiji Mizuno, John B Moeschler, Christian Netzer, Charlotte W Ockeloen, Barbara Oehl-Jaschkowitz, Nobuhiko Okamoto, Sharon N M Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P Robertson, Maian Roifman, Caroline Rooryck, Fabienne G Ropers, Monica Rosello, Claudia A L Ruivenkamp, Mahmut S Sagiroglu, Suzanne C E H Sallevelt, Amparo Sanchis Calvo, Pelin O Simsek-Kiper, Gabriela Soares, Lucia Solaeche, Fatma Mujgan Sonmez, Miranda Splitt, Duco Steenbeek, Alexander P A Stegmann, Constance T R M Stumpel, Saori Tanabe, Eyyup Uctepe, G Eda Utine, Hermine E Veenstra-Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent-Delorme, Anneke T Vulto-van Silfhout, Patricia Wheeler, Golder N Wilson, Louise C Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek, Evan Eichler, Rolph Pfundt, Bert B A de Vries, Jill Clayton-Smith, Gijs W E Santen
PURPOSE: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS...
October 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30327542/carrier-screening-within-the-panel
#18
LETTER
Graeme Suthers, Kym Mina
No abstract text is available yet for this article.
October 16, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30327541/response-to-suthers-and-mina
#19
LETTER
Edwin P Kirk, Kristine Barlow-Stewart, Sarah Josephi-Taylor, Tony Roscioli
No abstract text is available yet for this article.
October 16, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30327540/trends-over-42-years-in-the-adult-medical-genetics-clinic-at-the-university-of-washington
#20
Elizabeth A Gay, Peter H Byers, Robin L Bennett, Thomas D Bird, Fuki M Hisama
PURPOSE: We analyzed the patients served by the University of Washington Adult Genetic Medicine Clinic (UWAGMC) over a 42-year period to determine how clinical services have changed and to evaluate the contributing factors. METHODS: We conducted a retrospective survey of patients seen by UWAGMC that included patients seen from 1975 to 2016. Variables considered included referral indication, disease status, and clinic visit date. Indications for referral were then binned into clinical categories for descriptive analysis...
October 16, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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