Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly
Genetics in Medicine, Published online: 06 July 2021; doi:10.1038/s41436-021-01264-0 (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 6, 2021 Category: Genetics & Stem Cells Authors: Jennifer Morrison Norah K. Altuwaijri Kirsten Br ønstad Henriette Aksnes Hessa S. Alsaif Anthony Evans Mais Hashem Patricia G. Wheeler Bryn D. Webb Fowzan S. Alkuraya Thomas Arnesen Source Type: research
One is the loneliest number: genotypic matchmaking using the electronic health record
Genetics in Medicine, Published online: 06 July 2021; doi:10.1038/s41436-021-01179-wOne is the loneliest number: genotypic matchmaking using the electronic health record (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 6, 2021 Category: Genetics & Stem Cells Authors: Elly Brokamp Mary E. Koziura John A. Phillips III Leigh Anne Tang Joy D. Cogan Lynette C. Rives Amy K. Robertson Laura Duncan Anna Bican Josh F. Peterson John H. Newman Rizwan Hamid Lisa Bastarache Mercedes E. Alejandro Mahshid S. Azamian Carlos A. Bacino Source Type: research
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
Genetics in Medicine, Published online: 06 July 2021; doi:10.1038/s41436-021-01254-2Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 6, 2021 Category: Genetics & Stem Cells Authors: Mayher J. Patel Marina T. DiStefano Andrea M. Oza Madeline Y. Hughes Emma H. Wilcox Sarah E. Hemphill Brandon J. Cushman Andrew R. Grant Rebecca K. Siegert Jun Shen Alex Chapin Nicole J. Boczek Lisa A. Schimmenti Kiyomitsu Nara Margaret Kenna Hela Azaiez Source Type: research
Potential of polygenic risk scores for improving population estimates of women’s breast cancer genetic risks
Genetics in Medicine, Published online: 06 July 2021; doi:10.1038/s41436-021-01258-yPotential of polygenic risk scores for improving population estimates of women’s breast cancer genetic risks (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 6, 2021 Category: Genetics & Stem Cells Authors: Michael Wolfson Steve Gribble Nora Pashayan Douglas F. Easton Antonis C. Antoniou Andrew Lee Sasha van Katwyk Jacques Simard Source Type: research
Focused Revision: Policy statement on folic acid and neural tube defects
Genetics in Medicine, Published online: 06 July 2021; doi:10.1038/s41436-021-01226-6Focused Revision: Policy statement on folic acid and neural tube defects (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 6, 2021 Category: Genetics & Stem Cells Authors: Priya Prasad Mari Mori Helga V. Toriello Source Type: research
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine, Published online: 01 July 2021; doi:10.1038/s41436-021-01242-6Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 1, 2021 Category: Genetics & Stem Cells Authors: Kandamurugu Manickam Monica R. McClain Laurie A. Demmer Sawona Biswas Hutton M. Kearney Jennifer Malinowski Lauren J. Massingham Danny Miller Timothy W. Yu Fuki M. Hisama Source Type: research
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy
Genetics in Medicine, Published online: 30 June 2021; doi:10.1038/s41436-021-01255-1Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 30, 2021 Category: Genetics & Stem Cells Authors: Sophie L. V. M. Stroeks Debby M. E. I. Hellebrekers Godelieve R. F. Claes Upasana Tayal Ingrid P. C. Krapels Els K. Vanhoutte Arthur van den Wijngaard Michiel T. H. M. Henkens James S. Ware Stephane R. B. Heymans Han G. Brunner Job A. J. Verdonschot Source Type: research
Upregulation of GBP1 in thyroid primordium is required for developmental thyroid morphogenesis
Genetics in Medicine, Published online: 30 June 2021; doi:10.1038/s41436-021-01237-3Upregulation of GBP1 in thyroid primordium is required for developmental thyroid morphogenesis (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 30, 2021 Category: Genetics & Stem Cells Authors: Rui-Meng Yang Ming Zhan Qin-Yi Zhou Xiao-Ping Ye Feng-Yao Wu Mei Dong Feng Sun Ya Fang Rui-Jia Zhang Chang-Run Zhang Liu Yang Miao-Miao Guo Jun-Xiu Zhang Jun Liang Feng Cheng Wei Liu Bing Han Yi Zhou Shuang-Xia Zhao Huai-Dong Song Source Type: research
Treatment of ARS deficiencies with specific amino acids
Genetics in Medicine, Published online: 30 June 2021; doi:10.1038/s41436-021-01249-z (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 30, 2021 Category: Genetics & Stem Cells Authors: Gautam Kok Laura Tseng Imre F. Schene Monique E. Dijsselhof Gajja Salomons Marisa I. Mendes Desiree E. C. Smith Arnaud Wiedemann Marie Canton Fran çois Feillet Tom J. de Koning Megan Boothe Joy Dean Rachel Kassel Elise A. Ferreira Margreet van den Born Source Type: research
An integrative multiomics analysis identifies putative causal genes for COVID-19 severity
Genetics in Medicine, Published online: 28 June 2021; doi:10.1038/s41436-021-01243-5An integrative multiomics analysis identifies putative causal genes for COVID-19 severity (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 28, 2021 Category: Genetics & Stem Cells Authors: Lang Wu Jingjing Zhu Duo Liu Yanfa Sun Chong Wu Source Type: research
Can you hear us now? The impact of health-care utilization by rare disease patients in the United States
Genetics in Medicine, Published online: 28 June 2021; doi:10.1038/s41436-021-01241-7Can you hear us now? The impact of health-care utilization by rare disease patients in the United States (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 28, 2021 Category: Genetics & Stem Cells Authors: Angela A. Navarrete-Opazo Maharaj Singh Ainslie Tisdale Christine M. Cutillo Sheldon R. Garrison Source Type: research
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: 28 June 2021; doi:10.1038/s41436-021-01247-1Direct-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 - June 28, 2021 Category: Genetics & Stem Cells Source Type: research
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
Genetics in Medicine, Published online: 25 June 2021; doi:10.1038/s41436-021-01239-1Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 25, 2021 Category: Genetics & Stem Cells Authors: Sheng-Jia Lin Barbara Vona Patricia G. Barbalho Rauan Kaiyrzhanov Reza Maroofian Cassidy Petree Mariasavina Severino Valentina Stanley Pratishtha Varshney Paulina Bahena Fatema Alzahrani Amal Alhashem Alistair T. Pagnamenta Gudrun Aubertin Juvianee I. Est Source Type: research
Mucolipidosis type II and type III: a systematic review of 843 published cases
Genetics in Medicine, Published online: 25 June 2021; doi:10.1038/s41436-021-01244-4Mucolipidosis type II and type III: a systematic review of 843 published cases (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 25, 2021 Category: Genetics & Stem Cells Authors: Emma J. Dogterom Margreet A. E. M. Wagenmakers Martina Wilke Serwet Demirdas Nicole M. Muschol Sandra Pohl Jan C. van der Meijden Dimitris Rizopoulos Ans T. van der Ploeg Esm ée Oussoren Source Type: research
News
Genetics in Medicine, Published online: 25 June 2021; doi:10.1038/s41436-021-01253-3News (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 25, 2021 Category: Genetics & Stem Cells Source Type: research
