PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Genetics in Medicine, Published online: 16 August 2021; doi:10.1038/s41436-021-01296-6PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 16, 2021 Category: Genetics & Stem Cells Authors: Anne Guimier Melanie T. Achleitner Anne Moreau de Bellaing Matthew Edwards Lo ïc de Pontual Kirti Mittal Kyla E. Dunn Megan E. Grove Carolyn J. Tysoe Cl émantine Dimartino Jessie Cameron Anil Kanthi Anju Shukla Florence van den Broek Diptendu Chatterjee Source Type: research
Correction to: Cystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth
Genetics in Medicine, Published online: 13 August 2021; doi:10.1038/s41436-021-01281-zCorrection to: Cystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 13, 2021 Category: Genetics & Stem Cells Authors: Yu-Chung Lin Katherine Keenan Jiafen Gong Naim Panjwani Julie Avolio Fan Lin Damien Adam Paula Barrett St éphanie Bégin Yves Berthiaume Lara Bilodeau Candice Bjornson Janna Brusky Caroline Burgess Mark Chilvers Raquel Consunji-Araneta Guillaume C ôté- Source Type: research
Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records
Genetics in Medicine, Published online: 13 August 2021; doi:10.1038/s41436-021-01293-9Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 13, 2021 Category: Genetics & Stem Cells Authors: Kelly M. Schiabor Barrett Alexandre Bolze Yunyun Ni Simon White Magnus Isaksson Lavania Sharma Elissa Levin William Lee Joseph J. Grzymski James T. Lu Nicole L. Washington Elizabeth T. Cirulli Source Type: research
Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel–Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study
Genetics in Medicine, Published online: 12 August 2021; doi:10.1038/s41436-021-01290-ySafety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel–Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 12, 2021 Category: Genetics & Stem Cells Authors: M. Luu P. Vabres H. Devilliers R. Loffroy A. Phan L. Martin F. Morice-Picard F. Petit M. Willems D. Bessis M. L. Jacquemont A. Maruani C. Chiaverini T. Mirault J. Clayton-Smith M. Carpentier C. Fleck A. Maurer M. Yousfi V. E. R. Parker R. K. Semple M. Bar Source Type: research
Impact of personal genomic risk information on melanoma prevention behaviors and psychological outcomes: a randomized controlled trial
Genetics in Medicine, Published online: 12 August 2021; doi:10.1038/s41436-021-01292-wImpact of personal genomic risk information on melanoma prevention behaviors and psychological outcomes: a randomized controlled trial (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 12, 2021 Category: Genetics & Stem Cells Authors: Amelia K. Smit Martin Allen Brooke Beswick Phyllis Butow Hugh Dawkins Suzanne J. Dobbinson Kate L. Dunlop David Espinoza Georgina Fenton Peter A. Kanetsky Louise Keogh Michael G. Kimlin Judy Kirk Matthew H. Law Serigne Lo Cynthia Low Graham J. Mann Gillia Source Type: research
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy
Genetics in Medicine, Published online: 12 August 2021; doi:10.1038/s41436-021-01291-xBiallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 12, 2021 Category: Genetics & Stem Cells Authors: Daniel G. Calame Somayeh Bakhtiari Rachel Logan Zeynep Coban-Akdemir Haowei Du Tadahiro Mitani Jawid M. Fatih Jill V. Hunter Isabella Herman Davut Pehlivan Shalini N. Jhangiani Richard Person Rhonda E. Schnur Sheng Chih Jin Kaya Bilguvar Jennifer E. Posey Source Type: research
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications
Genetics in Medicine, Published online: 06 August 2021; doi:10.1038/s41436-021-01294-8Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 6, 2021 Category: Genetics & Stem Cells Authors: David R. Murdock Eric Venner Donna M. Muzny Ginger A. Metcalf Mullai Murugan Trevor D. Hadley Varuna Chander Paul S. de Vries Xiaoming Jia Aliza Hussain Ali M. Agha Aniko Sabo Shoudong Li Qingchang Meng Jianhong Hu Xia Tian Michelle Cohen Victoria Yi Chri Source Type: research
News
Genetics in Medicine, Published online: 04 August 2021; doi:10.1038/s41436-021-01277-9News (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 4, 2021 Category: Genetics & Stem Cells Source Type: research
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Genetics in Medicine, Published online: 03 August 2021; doi:10.1038/s41436-021-01246-2Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 3, 2021 Category: Genetics & Stem Cells Authors: Marjolein J. A. Weerts Kristina Lanko Francisco J. Guzm án-Vega Adam Jackson Reshmi Ramakrishnan Kelly J. Cardona-Londo ño Karla A. Pe ña-Guerra Yolande van Bever Barbara W. van Paassen Anneke Kievit Marjon van Slegtenhorst Nicholas M. Allen Caroline M Source Type: research
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Genetics in Medicine, Published online: 03 August 2021; doi:10.1038/s41436-021-01263-1Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 3, 2021 Category: Genetics & Stem Cells Authors: J érémie Courraud Eric Chater-Diehl Benjamin Durand Marie Vincent Maria del Mar Muniz Moreno Imene Boujelbene Nathalie Drouot Lor éline Genschik Elise Schaefer Mathilde Nizon B énédicte Gerard Marc Abramowicz Benjamin Cogn é Lucas Bronicki Lydie Bur Source Type: research
Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine, Published online: 03 August 2021; doi:10.1038/s41436-021-01278-8Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 3, 2021 Category: Genetics & Stem Cells Authors: David T. Miller Kristy Lee Wendy K. Chung Adam S. Gordon Gail E. Herman Teri E. Klein Douglas R. Stewart Laura M. Amendola Kathy Adelman Sherri J. Bale Michael H. Gollob Steven M. Harrison Ray E. Hershberger Kent McKelvey C. Sue Richards Christopher N. Vl Source Type: research
Breast cancer polygenic risk scores: a 12-month prospective study of patient reported outcomes and risk management behavior
Genetics in Medicine, Published online: 02 August 2021; doi:10.1038/s41436-021-01288-6Breast cancer polygenic risk scores: a 12-month prospective study of patient reported outcomes and risk management behavior (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 2, 2021 Category: Genetics & Stem Cells Authors: Tatiane Yanes Bettina Meiser Rajneesh Kaur Mary-Anne Young Philip B. Mitchell Maatje Scheepers-Joynt Simone McInerny Shelby Taylor Kristine Barlow-Stewart Yoland Antill Lucinda Salmon Courtney Smyth Brigid Betz-Stablein Paul A. James Source Type: research
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
Genetics in Medicine, Published online: 02 August 2021; doi:10.1038/s41436-021-01285-9Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 2, 2021 Category: Genetics & Stem Cells Authors: Giorgia Di Lorenzo Lena M. Westermann Timur A. Yorgan Julian St ürznickel Nataniel F. Ludwig Luise S. Ammer Anke Baranowsky Shiva Ahmadi Elham Pourbarkhordariesfandabadi Sandra R. Breyer Tim N. Board Anne Foster Jean Mercer Karen Tylee Renata Voltolini V Source Type: research
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study
Genetics in Medicine, Published online: 02 August 2021; doi:10.1038/s41436-021-01287-7Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 2, 2021 Category: Genetics & Stem Cells Authors: Ravi Savarirayan Louise Tofts Melita Irving William R. Wilcox Carlos A. Bacino Julie Hoover-Fong Rosendo Ullot Font Paul Harmatz Frank Rutsch Michael B. Bober Lynda E. Polgreen Ignacio Ginebreda Klaus Mohnike Joel Charrow Daniel Hoernschemeyer Keiichi Ozo Source Type: research
Exploring the motivations of research participants who chose not to learn medically actionable secondary genetic findings about themselves
Genetics in Medicine, Published online: 29 July 2021; doi:10.1038/s41436-021-01271-1Exploring the motivations of research participants who chose not to learn medically actionable secondary genetic findings about themselves (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 29, 2021 Category: Genetics & Stem Cells Authors: Will Schupmann Skye A. Miner Haley K. Sullivan Jamie R. Glover Janet E. Hall Shepherd H. Schurman Benjamin E. Berkman Source Type: research
