Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants
Genetics in Medicine, Published online: 29 July 2021; doi:10.1038/s41436-021-01284-wLarge scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 29, 2021 Category: Genetics & Stem Cells Authors: Bryn S. Moore Jonathan Z. Luo Ann N. Stepanchick Tooraj Mirshahi Source Type: research
In This Issue
Genetics in Medicine, Published online: 29 July 2021; doi:10.1038/s41436-021-01276-wIn This Issue (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 29, 2021 Category: Genetics & Stem Cells Source Type: research
Tasimelteon safely and effectively improves sleep in Smith–Magenis syndrome: a double-blind randomized trial followed by an open-label extension
Genetics in Medicine, Published online: 27 July 2021; doi:10.1038/s41436-021-01282-yTasimelteon safely and effectively improves sleep in Smith–Magenis syndrome: a double-blind randomized trial followed by an open-label extension (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 27, 2021 Category: Genetics & Stem Cells Authors: Christos M. Polymeropoulos Justin Brooks Emily L. Czeisler Michaela A. Fisher Mary M. Gibson Kailey Kite Sandra P. Smieszek Changfu Xiao Sarah H. Elsea Gunther Birznieks Mihael H. Polymeropoulos Source Type: research
Residual risk for additional recessive diseases in consanguineous couples
Genetics in Medicine, Published online: 27 July 2021; doi:10.1038/s41436-021-01289-5Residual risk for additional recessive diseases in consanguineous couples (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 27, 2021 Category: Genetics & Stem Cells Authors: Lama AlAbdi Shatha Alrashseed Ahood Alsulaiman Rana Helaby Faiqa Imtiaz Mohamed Alhamed Fowzan S. Alkuraya Source Type: research
Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
Genetics in Medicine, Published online: 23 July 2021; doi:10.1038/s41436-021-01280-0Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 23, 2021 Category: Genetics & Stem Cells Authors: Saskia B. Wortmann Szymon Zi ętkiewicz Sergio Guerrero-Castillo Ren é G. Feichtinger Matias Wagner Jacqui Russell Carolyn Ellaway Dagmara Mr óz Hubert Wyszkowski Denisa Weis Iris Hannibal Celina von St ülpnagel Alfredo Cabrera-Orefice Uta Lichter-Kone Source Type: research
Correction to: The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation
Genetics in Medicine, Published online: 23 July 2021; doi:10.1038/s41436-021-01283-xCorrection to: The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 23, 2021 Category: Genetics & Stem Cells Authors: Eva Schrezenmeier Elisa Kremerskothen Fabian Halleck Oliver Staeck Lutz Liefeldt Mira Choi Markus Sch üler Ulrike Weber Nadine Bachmann Maik Grohmann Timo Wagner Klemens Budde Carsten Bergmann Source Type: research
Correction to: Direct-to-consumer prenatal testing for multigenic or polygenic disorders: a position statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine, Published online: 23 July 2021; doi:10.1038/s41436-021-01275-xCorrection to: Direct-to-consumer prenatal testing for multigenic or polygenic disorders: a position statement of the American College of Medical Genetics and Genomics (ACMG) (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 23, 2021 Category: Genetics & Stem Cells Source Type: research
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine, Published online: 20 July 2021; doi:10.1038/s41436-021-01203-zScreening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 20, 2021 Category: Genetics & Stem Cells Authors: Anthony R. Gregg Mahmoud Aarabi Susan Klugman Natalia T. Leach Michael T. Bashford Tamar Goldwaser Emily Chen Teresa N. Sparks Honey V. Reddi Aleksandar Rajkovic Jeffrey S. Dungan Source Type: research
Multisite investigation of strategies for the clinical implementation of pre-emptive pharmacogenetic testing
Genetics in Medicine, Published online: 19 July 2021; doi:10.1038/s41436-021-01269-9Multisite investigation of strategies for the clinical implementation of pre-emptive pharmacogenetic testing (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 19, 2021 Category: Genetics & Stem Cells Authors: Julio D. Duarte Rachel Dalton Amanda L. Elchynski D. Max Smith Emily J. Cicali James C. Lee Benjamin Q. Duong Natasha J. Petry Christina L. Aquilante Amber L. Beitelshees Philip E. Empey Julie A. Johnson Aniwaa Owusu Obeng Amy L. Pasternak Victoria M. Pra Source Type: research
Opportunities and pitfalls of social media research in rare genetic diseases: a systematic review
Genetics in Medicine, Published online: 19 July 2021; doi:10.1038/s41436-021-01273-zOpportunities and pitfalls of social media research in rare genetic diseases: a systematic review (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 19, 2021 Category: Genetics & Stem Cells Authors: Emily G. Miller Amanda L. Woodward Grace Flinchum Jennifer L. Young Holly K. Tabor Meghan C. Halley Source Type: research
Clinical and genomic characterization of 8p cytogenomic disorders
Genetics in Medicine, Published online: 19 July 2021; doi:10.1038/s41436-021-01270-2Clinical and genomic characterization of 8p cytogenomic disorders (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 19, 2021 Category: Genetics & Stem Cells Authors: Volkan Okur Laura Hamm Haluk Kavus Caroline Mebane Scott Robinson Brynn Levy Wendy K. Chung Source Type: research
Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen
Genetics in Medicine, Published online: 16 July 2021; doi:10.1038/s41436-021-01274-yCaffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 16, 2021 Category: Genetics & Stem Cells Authors: Tibbe Dhooge Delfien Syx Trinh Hermanns-L ê Ingrid Hausser Geert Mortier Jonathan Zonana Sofie Symoens Peter H. Byers Fransiska Malfait Source Type: research
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia
Genetics in Medicine, Published online: 14 July 2021; doi:10.1038/s41436-021-01240-8Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 14, 2021 Category: Genetics & Stem Cells Authors: B. Dalmasso L. Pastorino V. Nathan N. N. Shah J. M. Palmer M. Howlie P. A. Johansson N. D. Freedman B. D. Carter L. Beane-Freeman B. Hicks A. Molven H. Helgadottir A. Sankar H. Tsao A. J. Stratigos P. Helsing R. Van Doorn N. A. Gruis M. Visser K. A. W. Wa Source Type: research
Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care
Genetics in Medicine, Published online: 13 July 2021; doi:10.1038/s41436-021-01267-xChallenges in genetic testing: clinician variant interpretation processes and the impact on clinical care (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 13, 2021 Category: Genetics & Stem Cells Authors: Courtney Berrios Emily A. Hurley Laurel Willig Isabelle Thiffault Carol Saunders Tomi Pastinen Kathy Goggin Emily Farrow Source Type: research
Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer
Genetics in Medicine, Published online: 13 July 2021; doi:10.1038/s41436-021-01262-2Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 13, 2021 Category: Genetics & Stem Cells Authors: Jada G. Hamilton Heather Symecko Kelsey Spielman Kelsey Breen Rebecca Mueller Amanda Catchings Magan Trottier Erin E. Salo-Mullen Ibrahim Shah Anna Arutyunova Melissa Batson Rebecca Gebert Stacy Pundock Elizabeth Schofield Kenneth Offit Zsofia K. Stadler Source Type: research
