Primary care providers’ responses to unsolicited Lynch syndrome secondary findings of varying clinical significance
Genetics in Medicine, Published online: 10 June 2021; doi:10.1038/s41436-021-01225-7Primary care providers’ responses to unsolicited Lynch syndrome secondary findings of varying clinical significance (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 10, 2021 Category: Genetics & Stem Cells Authors: Lauren N. Galbraith Charlene L. Preys Heidi L. Rehm Maren T. Scheuner Catherine Hajek Robert C. Green Kurt D. Christensen Source Type: research
A framework for automated gene selection in genomic applications
Genetics in Medicine, Published online: 10 June 2021; doi:10.1038/s41436-021-01213-xA framework for automated gene selection in genomic applications (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 10, 2021 Category: Genetics & Stem Cells Authors: L. Lazo de la Vega W. Yu K. Machini C. A. Austin-Tse L. Hao C. L. Blout Zawatsky H. Mason-Suares R. C. Green H. L. Rehm M. S. Lebo Source Type: research
Ask me later: deciding to have clinical exome trio sequencing for my critically ill child
Genetics in Medicine, Published online: 10 June 2021; doi:10.1038/s41436-021-01231-9Ask me later: deciding to have clinical exome trio sequencing for my critically ill child (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 10, 2021 Category: Genetics & Stem Cells Authors: Jill Oliver Robinson Source Type: research
Correspondence on “Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation” by Thompson et al.
Genetics in Medicine, Published online: 10 June 2021; doi:10.1038/s41436-021-01235-5Correspondence on “Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation” by Thompson et al. (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 10, 2021 Category: Genetics & Stem Cells Authors: Carmen Suay-Corredera Jorge Alegre-Cebollada Source Type: research
Correspondence on “De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females” by Polla et al.
Genetics in Medicine, Published online: 02 June 2021; doi:10.1038/s41436-021-01208-8Correspondence on “De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females” by Polla et al. (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 2, 2021 Category: Genetics & Stem Cells Authors: Florence Riccardi Alexandre Astier Margot Grisval Arnaud Maillard Vincent Michaud Catherine Badens Christopher T. Gordon Aur élien Trimouille Laurence Faivre Jeanne Amiel Sabine Sigaudy Svetlana Gorokhova Source Type: research
Response to Riccardi et al.
Genetics in Medicine, Published online: 02 June 2021; doi:10.1038/s41436-021-01209-7Response to Riccardi et al. (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 2, 2021 Category: Genetics & Stem Cells Authors: A. P. M. de Brouwer Source Type: research
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
Genetics in Medicine, Published online: 30 May 2021; doi:10.1038/s41436-021-01196-9Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 30, 2021 Category: Genetics & Stem Cells Authors: Gabriel C. Dworschak Jaya Punetha Jeshurun C. Kalanithy Enrico Mingardo Haktan B. Erdem Zeynep C. Akdemir Ender Karaca Tadahiro Mitani Dana Marafi Jawid M. Fatih Shalini N. Jhangiani Jill V. Hunter Tikam Chand Dakal Bhanupriya Dhabhai Omar Dabbagh Hessa S Source Type: research
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model
Genetics in Medicine, Published online: 28 May 2021; doi:10.1038/s41436-021-01224-8X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 28, 2021 Category: Genetics & Stem Cells Authors: Mark D. Levin Simona Bianconi Andrew Smith Niamh X. Cawley An Dang Do Dylan Hammond Julia F. Grafstein Audrey Thurm Judith Miller John Perreault Audrey Noguchi Danielle Springer Beth A. Kozel Christopher F. Spurney Christopher A. Wassif Zu-Xi Yu Andreas S Source Type: research
News
Genetics in Medicine, Published online: 28 May 2021; doi:10.1038/s41436-021-01221-xNews (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 28, 2021 Category: Genetics & Stem Cells Source Type: research
In This Issue
Genetics in Medicine, Published online: 28 May 2021; doi:10.1038/s41436-021-01220-yIn This Issue (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 28, 2021 Category: Genetics & Stem Cells Source Type: research
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders
Genetics in Medicine, Published online: 26 May 2021; doi:10.1038/s41436-021-01206-wImproved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 26, 2021 Category: Genetics & Stem Cells Authors: Celine Bris David Gouden ège Valerie Desquiret-Dumas Naig Gueguen Sylvie Bannwarth Pauline Gaignard Benoit Rucheton Aurelien Trimouille Stephane Allouche Cecile Rouzier Samira Saadi Claude Jardel Abdel Slama Magalie Barth Christophe Verny Marco Spinazzi Source Type: research
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly
Genetics in Medicine, Published online: 26 May 2021; doi:10.1038/s41436-021-01182-1UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 26, 2021 Category: Genetics & Stem Cells Authors: Rhonda E. Schnur Sairah Yousaf James Liu Wendy K. Chung Lindsay Rhodes Michael Marble Regina M. Zambrano Nara Sobreira Parul Jayakar Mary Ella Pierpont Matthew J. Schultz Pavel N. Pichurin Rory J. Olson Gail E. Graham Matthew Osmond Gustavo A. Contreras-G Source Type: research
Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care
Genetics in Medicine, Published online: 26 May 2021; doi:10.1038/s41436-021-01210-0Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 26, 2021 Category: Genetics & Stem Cells Authors: Samuel A. Crawford Cynthia L. Gong Leah Yieh Linda M. Randolph Joel W. Hay Source Type: research
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases
Genetics in Medicine, Published online: 26 May 2021; doi:10.1038/s41436-021-01200-2Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 26, 2021 Category: Genetics & Stem Cells Authors: Francis Rossignol Marvid S. Duarte Moreno Jean-Fran çois Benoist Manfred Boehm Emmanuelle Bourrat Aline Cano Brigitte Chabrol Claudine Cosson Jos é Luís Dapena Díaz Arthur D ’Harlingue David Dimmock Alexandra F. Freeman Mar ía Tallón García Chery Source Type: research
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth
Genetics in Medicine, Published online: 26 May 2021; doi:10.1038/s41436-021-01211-zSomatic PIK3R1 variation as a cause of vascular malformations and overgrowth (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 26, 2021 Category: Genetics & Stem Cells Authors: Catherine E. Cottrell Nicole R. Bender Michael T. Zimmermann Jonathan W. Heusel Meagan Corliss Michael J. Evenson Vincent Magrini Donald J. Corsmeier Matthew Avenarius Jeffrey N. Dudley Jennifer J. Johnston Marjorie J. Lindhurst Katinka Vigh-Conrad Olivia Source Type: research
