Response to Park et al.
Genetics in Medicine, Published online: 24 February 2021; doi:10.1038/s41436-021-01105-0Response to Park et al. (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 24, 2021 Category: Genetics & Stem Cells Authors: Mathieu Barbier Claire Sophie Davoine Alexis Brice Alexandra Durr Source Type: research
News
Genetics in Medicine, Published online: 23 February 2021; doi:10.1038/s41436-021-01123-yNews (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 23, 2021 Category: Genetics & Stem Cells Source Type: research
In This Issue
Genetics in Medicine, Published online: 22 February 2021; doi:10.1038/s41436-021-01122-zIn This Issue (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 22, 2021 Category: Genetics & Stem Cells Source Type: research
Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders
Genetics in Medicine, Published online: 18 February 2021; doi:10.1038/s41436-021-01110-3Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 18, 2021 Category: Genetics & Stem Cells Authors: H. Copeland E. Kivuva H. V. Firth C. F. Wright Source Type: research
Preferences of biobank participants for receiving actionable genomic test results: results of a recontacting study
Genetics in Medicine, Published online: 18 February 2021; doi:10.1038/s41436-021-01111-2Preferences of biobank participants for receiving actionable genomic test results: results of a recontacting study (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 18, 2021 Category: Genetics & Stem Cells Authors: Nora B. Henrikson Aaron Scrol Kathleen A. Leppig James D. Ralston Eric B. Larson Gail P. Jarvik Source Type: research
DLG4-related synaptopathy: a new rare brain disorder
Genetics in Medicine, Published online: 17 February 2021; doi:10.1038/s41436-020-01075-9DLG4-related synaptopathy: a new rare brain disorder (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 17, 2021 Category: Genetics & Stem Cells Authors: Agust í Rodríguez-Palmero Melissa Maria Boerrigter David G ómez-Andrés Kimberly A. Aldinger Íñigo Marcos-Alcalde Bernt Popp David B. Everman Alysia Kern Lovgren Stephanie Arpin Vahid Bahrambeigi Gea Beunders Anne-Marie Bisgaard V. A. Bjerregaard Ang Source Type: research
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
Genetics in Medicine, Published online: 12 February 2021; doi:10.1038/s41436-020-01084-8Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 12, 2021 Category: Genetics & Stem Cells Authors: Shilpa Nadimpalli Kobren Dustin Baldridge Matt Velinder Joel B. Krier Kimberly LeBlanc Cecilia Esteves Barbara N. Pusey Stephan Z üchner Elizabeth Blue Hane Lee Alden Huang Lisa Bastarache Anna Bican Joy Cogan Shruti Marwaha Anna Alkelai David R. Murdock Source Type: research
Trainee perspectives of COVID-19 impact on medical genetics education
Genetics in Medicine, Published online: 12 February 2021; doi:10.1038/s41436-020-01072-yTrainee perspectives of COVID-19 impact on medical genetics education (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 12, 2021 Category: Genetics & Stem Cells Authors: Amanda Barone Pritchard Christina Sloan-Heggen Catherine E. Keegan Shane C. Quinonez Source Type: research
Call for improvement in medical school training in genetics: results of a national survey
Genetics in Medicine, Published online: 12 February 2021; doi:10.1038/s41436-021-01100-5Call for improvement in medical school training in genetics: results of a national survey (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 12, 2021 Category: Genetics & Stem Cells Authors: Richard L. Haspel Jonathan R. Genzen Jay Wagner Karen Fong Richard L. Haspel Rebecca Wilcox Patricia V. Adem Hana Anderson James B. Atkinson Leah W. Burke Loren Joseph Robin D. LeGallo Madelyn Lew Christina M. Lockwood Rizwan Naeem Hasan Rizvi Julian Sanz Source Type: research
Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy
Genetics in Medicine, Published online: 10 February 2021; doi:10.1038/s41436-021-01107-yClinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 10, 2021 Category: Genetics & Stem Cells Authors: Christopher M. Richmond Paul A. James Sarah-Jane Pantaleo Belinda Chong Sebastian Lunke Tiong Y. Tan Ivan Macciocca Source Type: research
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort
Genetics in Medicine, Published online: 10 February 2021; doi:10.1038/s41436-020-01093-7When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 10, 2021 Category: Genetics & Stem Cells Authors: Alexandra Scott Niccol ò Di Giosaffatte Valentina Pinna Paola Daniele Sara Corno Valentina D ’Ambrosio Elena Andreucci Annabella Marozza Fabio Sirchia Giada Tortora Daniela Mangiameli Chiara Di Marco Maria Romagnoli Ilaria Donati Andrea Zonta Enrico Gr Source Type: research
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care
Genetics in Medicine, Published online: 09 February 2021; doi:10.1038/s41436-020-01053-1Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 9, 2021 Category: Genetics & Stem Cells Authors: Rossana Sanchez Russo Michael J. Gambello Melissa M. Murphy Katrina Aberizk Emily Black T. Lindsey Burrell Grace Carlock Joseph F. Cubells Michael T. Epstein Roberto Espana Katrina Goines Ryan M. Guest Cheryl Klaiman Sookyong Koh Elizabeth J. Leslie Longc Source Type: research
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
Genetics in Medicine, Published online: 09 February 2021; doi:10.1038/s41436-021-01101-4Outcome of publicly funded nationwide first-tier noninvasive prenatal screening (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 9, 2021 Category: Genetics & Stem Cells Authors: Kris Van Den Bogaert Lore Lannoo Nathalie Brison Vincent Gatinois Machteld Baetens Bettina Blaumeiser Fran çois Boemer Laura Bourlard Vincent Bours Anne De Leener Marjan De Rademaeker Julie D ésir Annelies Dheedene Armelle Duquenne Nathalie Fieremans An Source Type: research
Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux et al.
Genetics in Medicine, Published online: 09 February 2021; doi:10.1038/s41436-021-01104-1Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux et al. (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 9, 2021 Category: Genetics & Stem Cells Authors: Joohyun Park Natalie Deininger Maren Rautenberg Carsten Saft Florian Harmuth Marc Sturm Olaf Riess Ludger Sch öls Matthis Synofzik Tobias B. Haack Source Type: research
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Genetics in Medicine, Published online: 05 February 2021; doi:10.1038/s41436-020-01096-4Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 5, 2021 Category: Genetics & Stem Cells Authors: Bekim Sadikovic Michael A. Levi Jennifer Kerkhof Erfan Aref-Eshghi Laila Schenkel Alan Stuart Haley McConkey Peter Henneman Andrea Venema Charles E. Schwartz Roger E. Stevenson Steven A. Skinner Barbara R. DuPont Robin S. Fletcher Tugce B. Balci Victoria Source Type: research
