Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine, Published online: 29 April 2021; doi:10.1038/s41436-021-01139-4Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 29, 2021 Category: Genetics & Stem Cells Authors: Catherine Rehder Lora J. H. Bean David Bick Elizabeth Chao Wendy Chung Soma Das Julianne O ’Daniel Heidi Rehm Vandana Shashi Lisa M. Vincent Source Type: research
Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients
Genetics in Medicine, Published online: 29 April 2021; doi:10.1038/s41436-021-01164-3Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 29, 2021 Category: Genetics & Stem Cells Authors: Th éo Charnay V éronique Blanck Mathieu Cerino Marc Bartoli Florence Riccardi Nathalie Bonello-Palot Christophe P écheux Karine Nguyen Nicolas L évy Svetlana Gorokhova Martin Krahn Source Type: research
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals
Genetics in Medicine, Published online: 28 April 2021; doi:10.1038/s41436-021-01153-6The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 28, 2021 Category: Genetics & Stem Cells Authors: Pia Zacher Thomas Mayer Frank Brandhoff Tobias Bartolomaeus Diana Le Duc Martin Finzel Anja Heinze Susanne Horn Chiara Kl öckner Gudrun K örber Julia Hentschel Malgorzata Kalita Ilona Krey Marina Nastainczyk-Wulf Konrad Platzer Johannes Rebstock Bernt P Source Type: research
Correction: The illusion of polygenic disease risk prediction
Genetics in Medicine, Published online: 22 April 2021; doi:10.1038/s41436-021-01163-4Correction: The illusion of polygenic disease risk prediction (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 22, 2021 Category: Genetics & Stem Cells Authors: Nicholas J. Wald Robert Old Source Type: research
Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma
Genetics in Medicine, Published online: 20 April 2021; doi:10.1038/s41436-021-01175-0 (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 20, 2021 Category: Genetics & Stem Cells Authors: D. Gareth Evans Ludwine M. Messiaen William D. Foulkes Rachel E. A. Irving Alexandra J. Murray Cristina Perez-Becerril Barbara Rivera Donna M. McDonald-McGinn David A. Stevenson Miriam J. Smith Source Type: research
Correction to: Correspondence on “AminoacyltRNA synthetase deficiencies in search of common themes” by Fuchs et al.
Genetics in Medicine, Published online: 20 April 2021; doi:10.1038/s41436-021-01160-7Correction to: Correspondence on “AminoacyltRNA synthetase deficiencies in search of common themes” by Fuchs et al. (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 20, 2021 Category: Genetics & Stem Cells Authors: Yan-Wen Shen Li-Ping Zou Source Type: research
Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
Genetics in Medicine, Published online: 19 April 2021; doi:10.1038/s41436-021-01159-0Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 19, 2021 Category: Genetics & Stem Cells Authors: Aida M. Bertoli-Avella Krishna K. Kandaswamy Suliman Khan Natalia Ordonez-Herrera Kornelia Tripolszki Christian Beetz Maria Eugenia Rocha Alize Urzi Ronja Hotakainen Anika Leubauer Ruslan Al-Ali Vasiliki Karageorgou Oana Moldovan Patr ícia Dias Amal Alha Source Type: research
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency
Genetics in Medicine, Published online: 19 April 2021; doi:10.1038/s41436-021-01156-3One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 19, 2021 Category: Genetics & Stem Cells Authors: George A. Diaz Simon A. Jones Maurizio Scarpa Karl Eugen Mengel Roberto Giugliani Nathalie Guffon Isabela Batsu Patricia A. Fraser Jing Li Qi Zhang Catherine Ortemann-Renon Source Type: research
News
Genetics in Medicine, Published online: 19 April 2021; doi:10.1038/s41436-021-01181-2News (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 19, 2021 Category: Genetics & Stem Cells Source Type: research
In This Issue
Genetics in Medicine, Published online: 19 April 2021; doi:10.1038/s41436-021-01180-3In This Issue (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 19, 2021 Category: Genetics & Stem Cells Source Type: research
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
Genetics in Medicine, Published online: 16 April 2021; doi:10.1038/s41436-021-01136-7Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 16, 2021 Category: Genetics & Stem Cells Authors: Silvia Martin-Almedina Kazim Ogmen Ege Sackey Dionysios Grigoriadis Christina Karapouliou Noeline Nadarajah Cathrine Ebbing Jenny Lord Rhiannon Mellis Fanny Kortuem Mary Beth Dinulos Cassandra Polun Sherri Bale Giles Atton Alexandra Robinson Hallvard Reig Source Type: research
Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine, Published online: 16 April 2021; doi:10.1038/s41436-021-01138-5Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG) (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 16, 2021 Category: Genetics & Stem Cells Authors: Elizabeth C. Chao Caroline Astbury Joshua L. Deignan Melissa Pronold Honey V. Reddi Jeffrey N. Weitzel Source Type: research
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans
Genetics in Medicine, Published online: 12 April 2021; doi:10.1038/s41436-021-01166-1Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 12, 2021 Category: Genetics & Stem Cells Authors: Renkui Bai Hong Cui Joseph M. Devaney Katrina M. Allis Amanda M. Balog Xinyue Liu Rhonda E. Schnur Faye L. Shapiro Ariel Brautbar Juvianee I. Estrada-Veras Laurel Hochstetler Allyn McConkie-Rosell Marie T. McDonald Benjamin D. Solomon Sean Hofherr Gabriel Source Type: research
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield
Genetics in Medicine, Published online: 12 April 2021; doi:10.1038/s41436-021-01174-1Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 12, 2021 Category: Genetics & Stem Cells Authors: Bart P. G. H. van der Sanden Jordi Corominas Michelle de Groot Maartje Pennings Rowdy P. P. Meijer Nienke Verbeek Bart van de Warrenburg Meyke Schouten Helger G. Yntema Lisenka E. L. M. Vissers Erik-Jan Kamsteeg Christian Gilissen Source Type: research
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Genetics in Medicine, Published online: 08 April 2021; doi:10.1038/s41436-021-01161-6 (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 8, 2021 Category: Genetics & Stem Cells Authors: Virginie Carmignac Cyril Mignot Emmanuelle Blanchard Paul Kuentz Marie-H élène Aubriot-Lorton Victoria E. R. Parker Arthur Sorlin Sylvie Fraitag Jean-Beno ît Courcet Yannis Duffourd Diana Rodriguez Rachel G. Knox Satyamaanasa Polubothu Anne Boland Robe Source Type: research
