In This Issue
Genetics in Medicine, Published online: 18 December 2020; doi:10.1038/s41436-020-01060-2In This Issue (Source: Genetics in Medicine)
Source: Genetics in Medicine - December 18, 2020 Category: Genetics & Stem Cells Source Type: research
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders
Genetics in Medicine, Published online: 11 December 2020; doi:10.1038/s41436-020-01043-3A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders (Source: Genetics in Medicine)
Source: Genetics in Medicine - December 11, 2020 Category: Genetics & Stem Cells Authors: Julie Steffann Sophie Monnot Maryse Magen Zahra Assouline Nadine Gigarel Yves Ville Laurent Salomon Bettina Bessiere Jelena Martinovic Agn ès Rötig Joana Bengoa Roxana Borgh èse Arnold Munnich Giulia Barcia Jean-Paul Bonnefont Source Type: research
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Genetics in Medicine, Published online: 10 December 2020; doi:10.1038/s41436-020-01020-wDe novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy (Source: Genetics in Medicine)
Source: Genetics in Medicine - December 10, 2020 Category: Genetics & Stem Cells Authors: Chiara Kl öckner Heinrich Sticht Pia Zacher Bernt Popp Holly E. Babcock Dewi P. Bakker Katy Barwick Michaela V. Bonfert Carsten G. B önnemann Eva H. Brilstra Wendy K. Chung Angus J. Clarke Patrick Devine Sandra Donkervoort Jamie L. Fraser Jennifer Fried Source Type: research
Real-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative
Genetics in Medicine, Published online: 10 December 2020; doi:10.1038/s41436-020-01056-yReal-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative (Source: Genetics in Medicine)
Source: Genetics in Medicine - December 10, 2020 Category: Genetics & Stem Cells Authors: Kelsey S. Lau-Min Stephanie Byers Asher Jessica Chen Susan M. Domchek Michael Feldman Steven Joffe Jeffrey Landgraf Virginia Speare Lisa A. Varughese Sony Tuteja Christine VanZandbergen Marylyn D. Ritchie Katherine L. Nathanson Source Type: research
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3
Genetics in Medicine, Published online: 08 December 2020; doi:10.1038/s41436-020-01028-2Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3 (Source: Genetics in Medicine)
Source: Genetics in Medicine - December 8, 2020 Category: Genetics & Stem Cells Authors: Daniel Peter Sayer Osborn Leila Emrahi Joshua Clayton Mehrnoush Toufan Tabrizi Alex Yui Bong Wan Reza Maroofian Mohammad Yazdchi Michael Leon Enrique Garcia Hamid Galehdari Camila Hesse Gholamreza Shariati Neda Mazaheri Alireza Sedaghat Hayley Goull ée N Source Type: research
Correction: Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network
Genetics in Medicine, Published online: 07 December 2020; doi:10.1038/s41436-020-01054-0Correction: Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network (Source: Genetics in Medicine)
Source: Genetics in Medicine - December 7, 2020 Category: Genetics & Stem Cells Authors: Kenneth D. Levy Kathryn Blake Colette Fletcher-Hoppe James Franciosi Daisuke Goto James K. Hicks Ann M. Holmes Sri Harsha Kanuri Ebony B. Madden Michael D. Musty Lori Orlando Victoria M. Pratt Michelle Ramos Ryanne Wu Geoffrey S. Ginsburg Source Type: research
Health and economic outcomes of newborn screening for infantile-onset Pompe disease
Genetics in Medicine, Published online: 07 December 2020; doi:10.1038/s41436-020-01038-0Health and economic outcomes of newborn screening for infantile-onset Pompe disease (Source: Genetics in Medicine)
Source: Genetics in Medicine - December 7, 2020 Category: Genetics & Stem Cells Authors: John S. Richardson Alex R. Kemper Scott D. Grosse Wendy K. K. Lam Angela M. Rose Ayesha Ahmad Achamyeleh Gebremariam Lisa A. Prosser Source Type: research
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
Genetics in Medicine, Published online: 01 December 2020; doi:10.1038/s41436-020-01029-1Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report (Source: Genetics in Medicine)
Source: Genetics in Medicine - December 1, 2020 Category: Genetics & Stem Cells Authors: Mev Dominguez-Valentin Emma J. Crosbie Christoph Engel Stefan Aretz Finlay Macrae Ingrid Winship Gabriel Capella Huw Thomas Sigve Nakken Eivind Hovig Maartje Nielsen Rolf H. Sijmons Lucio Bertario Bernardo Bonanni Maria Grazia Tibiletti Giulia Martina Cav Source Type: research
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
Genetics in Medicine, Published online: 27 November 2020; doi:10.1038/s41436-020-01040-6De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females (Source: Genetics in Medicine)
Source: Genetics in Medicine - November 27, 2020 Category: Genetics & Stem Cells Authors: D. L. Polla E. J. Bhoj J. B. G. M. Verheij J. S. Klein Wassink-Ruiter A. Reis C. Deshpande A. Gregor K. Hill-Karfe A. T. Vulto-van Silfhout R. Pfundt E. M. H. F. Bongers H. Hakonarson S. Berland G. Gradek S. Banka K. Chandler L. Gompertz S. C. Huffels C. Source Type: research
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
Genetics in Medicine, Published online: 27 November 2020; doi:10.1038/s41436-020-01031-7De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females (Source: Genetics in Medicine)
Source: Genetics in Medicine - November 27, 2020 Category: Genetics & Stem Cells Authors: Dong Li Alanna Strong Kaitlyn M. Shen David Cassiman Maria Van Dyck Natalia Duarte Linhares Eugenia Ribeiro Valadares Tiancheng Wang Sergio D. J. Pena Jaak Jaeken Samantha Vergano Elaine Zackai Anne Hing Penny Chow Arupa Ganguly Tasja Scholz Tatjana Bierh Source Type: research
A state-based approach to genomics for rare disease and population screening
Genetics in Medicine, Published online: 27 November 2020; doi:10.1038/s41436-020-01034-4A state-based approach to genomics for rare disease and population screening (Source: Genetics in Medicine)
Source: Genetics in Medicine - November 27, 2020 Category: Genetics & Stem Cells Authors: Kelly M. East Whitley V. Kelley Ashley Cannon Meagan E. Cochran Irene P. Moss Thomas May Mariko Nakano-Okuno Stephen O. Sodeke Jeffrey C. Edberg James J. Cimino Mona Fouad William A. Curry Anna C. E. Hurst Kevin M. Bowling Michelle L. Thompson E. Martina Source Type: research
Neurofilament light chain levels correlate with clinical measures in CLN3 disease
Genetics in Medicine, Published online: 26 November 2020; doi:10.1038/s41436-020-01035-3Neurofilament light chain levels correlate with clinical measures in CLN3 disease (Source: Genetics in Medicine)
Source: Genetics in Medicine - November 26, 2020 Category: Genetics & Stem Cells Authors: An N. Dang Do Ninet Sinaii Ruturaj R. Masvekar Eva H. Baker Audrey E. Thurm Ariane G. Soldatos Simona E. Bianconi Bibiana Bielekova Forbes D. Porter Source Type: research
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Genetics in Medicine, Published online: 26 November 2020; doi:10.1038/s41436-020-01027-3An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Source: Genetics in Medicine)
Source: Genetics in Medicine - November 26, 2020 Category: Genetics & Stem Cells Authors: Sacha Ferdinandusse Kirsty McWalter Heleen te Brinke Lodewijk IJlst Petra M. Mooijer Jos P. N. Ruiter Alida E. M. van Lint Mia Pras-Raves Eric Wever Francisca Millan Maria J. Guillen Sacoto Amber Begtrup Mark Tarnopolsky Lauren Brady Roger L. Ladda Susan Source Type: research
Correction: Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease
Genetics in Medicine, Published online: 20 November 2020; doi:10.1038/s41436-020-01041-5Correction: Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease (Source: Genetics in Medicine)
Source: Genetics in Medicine - November 20, 2020 Category: Genetics & Stem Cells Authors: Daniel G. Bichet Johannes M. Aerts Christiane Auray-Blais Hiroki Maruyama Atul B. Mehta Nina Skuban Eva Krusinska Raphael Schiffmann Source Type: research
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots
Genetics in Medicine, Published online: 20 November 2020; doi:10.1038/s41436-020-01017-5Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots (Source: Genetics in Medicine)
Source: Genetics in Medicine - November 20, 2020 Category: Genetics & Stem Cells Authors: Xinying Hong Jessica Daiker Martin Sadilek Nicole Ruiz-Schultz Arun Babu Kumar Stevie Norcross Warunee Dansithong Teryn Suhr Maria L. Escolar C. Ronald Scott Andreas Rohrwasser Michael H. Gelb Source Type: research
