Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing
Genetics in Medicine, Published online: 26 March 2021; doi:10.1038/s41436-021-01145-6Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 26, 2021 Category: Genetics & Stem Cells Authors: David A. Zeevi Daniel Backenroth Elinor Hakam-Spector Paul Renbaum Tzvia Mann Fouad Zahdeh Reeval Segel Sharon Zeligson Talia Eldar-Geva Ido Ben-Ami Adi Ben-Yehuda Shai Carmi Gheona Altarescu Source Type: research
Low-pass genome sequencing–based detection of absence of heterozygosity: validation in clinical cytogenetics
Genetics in Medicine, Published online: 26 March 2021; doi:10.1038/s41436-021-01128-7Low-pass genome sequencing–based detection of absence of heterozygosity: validation in clinical cytogenetics (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 26, 2021 Category: Genetics & Stem Cells Authors: Zirui Dong Matthew Hoi Kin Chau Yanyan Zhang Zhenjun Yang Mengmeng Shi Yi Man Wah Yvonne K. Kwok Tak Yeung Leung Cynthia C. Morton Kwong Wai Choy Source Type: research
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project
Genetics in Medicine, Published online: 26 March 2021; doi:10.1038/s41436-021-01146-5Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 26, 2021 Category: Genetics & Stem Cells Authors: Monica H. Wojcik Tian Zhang Ozge Ceyhan-Birsoy Casie A. Genetti Matthew S. Lebo Timothy W. Yu Richard B. Parad Ingrid A. Holm Heidi L. Rehm Alan H. Beggs Robert C. Green Pankaj B. Agrawal Pankaj B. Agrawal Alan H. Beggs Wendi N. Betting Ozge Ceyhan-Birsoy Source Type: research
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility
Genetics in Medicine, Published online: 25 March 2021; doi:10.1038/s41436-021-01125-wVariant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 25, 2021 Category: Genetics & Stem Cells Authors: Jennifer J. Johnston Robert T. Dirksen Thierry Girard Stephen G. Gonsalves Philip M. Hopkins Sheila Riazi Louis A. Saddic Nyamkhishig Sambuughin Richa Saxena Kathryn Stowell James Weber Henry Rosenberg Leslie G. Biesecker Source Type: research
Reducing Sanger confirmation testing through false positive prediction algorithms
Genetics in Medicine, Published online: 25 March 2021; doi:10.1038/s41436-021-01148-3Reducing Sanger confirmation testing through false positive prediction algorithms (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 25, 2021 Category: Genetics & Stem Cells Authors: James M. Holt Melissa Kelly Brett Sundlof Ghunwa Nakouzi David Bick Elaine Lyon Source Type: research
Universal newborn genetic screening for pediatric cancer predisposition syndromes: model-based insights
Genetics in Medicine, Published online: 25 March 2021; doi:10.1038/s41436-021-01124-xUniversal newborn genetic screening for pediatric cancer predisposition syndromes: model-based insights (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 25, 2021 Category: Genetics & Stem Cells Authors: Jennifer M. Yeh Natasha K. Stout Aeysha Chaudhry Kurt D. Christensen Michael Gooch Pamela M. McMahon Grace O ’Brien Narmeen Rehman Carrie L. Blout Zawatsky Robert C. Green Christine Y. Lu Heidi L. Rehm Marc S. Williams Lisa Diller Ann Chen Wu Source Type: research
In This Issue
Genetics in Medicine, Published online: 25 March 2021; doi:10.1038/s41436-021-01154-5In This Issue (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 25, 2021 Category: Genetics & Stem Cells Source Type: research
News
Genetics in Medicine, Published online: 24 March 2021; doi:10.1038/s41436-021-01155-4News (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 24, 2021 Category: Genetics & Stem Cells Source Type: research
Response to Carlson
Genetics in Medicine, Published online: 23 March 2021; doi:10.1038/s41436-020-01095-5Response to Carlson (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 23, 2021 Category: Genetics & Stem Cells Authors: Erica M. Bednar Charlotte C. Sun Sheryl McCurdy Sally W. Vernon Source Type: research
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice
Genetics in Medicine, Published online: 19 March 2021; doi:10.1038/s41436-021-01116-xDiagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 19, 2021 Category: Genetics & Stem Cells Authors: Suzanne C. E. H. Sallevelt Alexander P. A. Stegmann Bart de Koning Crool Velter Anja Steyls Melanie van Esch Phillis Lakeman Helger Yntema Masoud Zamani Esteki Christine E. M. de Die-Smulders Christian Gilissen Arthur van den Wijngaard Han G. Brunner Aim Source Type: research
Correspondence on “Assessing relatives’ readiness for hereditary cancer cascade genetic testing” by Bednar et al.
Genetics in Medicine, Published online: 19 March 2021; doi:10.1038/s41436-020-01094-6Correspondence on “Assessing relatives’ readiness for hereditary cancer cascade genetic testing” by Bednar et al. (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 19, 2021 Category: Genetics & Stem Cells Authors: Julia Carlson Source Type: research
Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy-number variants
Genetics in Medicine, Published online: 17 March 2021; doi:10.1038/s41436-021-01135-8Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy-number variants (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 17, 2021 Category: Genetics & Stem Cells Authors: Erica Soster Theresa Boomer Susan Hicks Samantha Caldwell Brittany Dyr Jason Chibuk Eyad Almasri Source Type: research
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency
Genetics in Medicine, Published online: 17 March 2021; doi:10.1038/s41436-021-01137-6Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 17, 2021 Category: Genetics & Stem Cells Authors: Seok-Ho Yu Tong Wang Kali Wiggins Raymond J. Louie Emilio F. Merino Cindy Skinner Maria B. Cassera Kirsten Meagher Paul Goldberg Neggy Rismanchi Dillon Chen Michael J. Lyons Heather Flanagan-Steet Richard Steet Source Type: research
Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants
Genetics in Medicine, Published online: 17 March 2021; doi:10.1038/s41436-021-01132-xClinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 17, 2021 Category: Genetics & Stem Cells Authors: Pauline Arnaud Olivier Milleron Nadine Hanna Jacques Ropers Nadia Ould Ouali Amel Affoune Maud Langeois Ludivine Eliahou Florence Arnoult Philippe Renard Marl ène Michelon-Jouneaux Marie Cotillon Laurent Gouya Catherine Boileau Guillaume Jondeau Source Type: research
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders
Genetics in Medicine, Published online: 17 March 2021; doi:10.1038/s41436-021-01120-1Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 17, 2021 Category: Genetics & Stem Cells Authors: Katherine Crawford Julie Xian Katherine L. Helbig Peter D. Galer Shridhar Parthasarathy David Lewis-Smith Michael C. Kaufman Eryn Fitch Shiva Ganesan Margaret O ’Brien Veronica Codoni Colin A. Ellis Laura J. Conway Deanne Taylor Roland Krause Ingo Helbi Source Type: research
