In This Issue
Genetics in Medicine, Published online: 23 September 2021; doi:10.1038/s41436-021-01302-xIn This Issue (Source: Genetics in Medicine)
Source: Genetics in Medicine - September 23, 2021 Category: Genetics & Stem Cells Source Type: research
News
Genetics in Medicine, Published online: 23 September 2021; doi:10.1038/s41436-021-01303-wNews (Source: Genetics in Medicine)
Source: Genetics in Medicine - September 23, 2021 Category: Genetics & Stem Cells Source Type: research
In This Issue
Genetics in Medicine, Published online: 23 September 2021; doi:10.1038/s41436-021-01302-xIn This Issue (Source: Genetics in Medicine)
Source: Genetics in Medicine - September 23, 2021 Category: Genetics & Stem Cells Source Type: research
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Genetics in Medicine, Published online: 14 September 2021; doi:10.1038/s41436-021-01306-7Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (Source: Genetics in Medicine)
Source: Genetics in Medicine - September 14, 2021 Category: Genetics & Stem Cells Authors: Lance H. Rodan Rebecca C. Spillmann Harley T. Kurata Shawn M. Lamothe Jasmine Maghera Rami Abou Jamra Anna Alkelai Stylianos E. Antonarakis Isis Atallah Omer Bar-Yosef Fr édéric Bilan Kathrine Bjorgo Xavier Blanc Patrick Van Bogaert Yoav Bolkier Lindsay Source Type: research
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
Genetics in Medicine, Published online: 14 September 2021; doi:10.1038/s41436-021-01279-7Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (Source: Genetics in Medicine)
Source: Genetics in Medicine - September 14, 2021 Category: Genetics & Stem Cells Authors: Doris Škorić-Milosavljević Najim Lahrouchi Fernanda M. Bosada Gregor Dombrowsky Simon G. Williams Robert Lesurf Fleur V. Y. Tjong Roddy Walsh Ihssane El Bouchikhi Jeroen Breckpot Enrique Audain Aho Ilgun Leander Beekman Ilham Ratbi Alanna Strong Maximi Source Type: research
Expanded phenotype of AARS1-related white matter disease
Genetics in Medicine, Published online: 27 August 2021; doi:10.1038/s41436-021-01286-8Expanded phenotype of AARS1-related white matter disease (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 27, 2021 Category: Genetics & Stem Cells Authors: Guy Helman Marisa I. Mendes Francesco Nicita Lama Darbelli Omar Sherbini Travis Moore Alexa Derksen Amy Pizzino Rosalba Carrozzo Alessandra Torraco Michela Catteruccia Chiara Aiello Paola Goffrini Sonia Figuccia Desiree E. C. Smith Kinga Hadzsiev Andreas Source Type: research
Correction to: 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: 27 August 2021; doi:10.1038/s41436-021-01300-zCorrection to: 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) (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 27, 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
Correction: The persistent lack of knowledge and misunderstanding of the Genetic Information Nondiscrimination Act (GINA) more than a decade after passage
Genetics in Medicine, Published online: 27 August 2021; doi:10.1038/s41436-021-01305-8Correction: The persistent lack of knowledge and misunderstanding of the Genetic Information Nondiscrimination Act (GINA) more than a decade after passage (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 27, 2021 Category: Genetics & Stem Cells Authors: Andrea Lenartz Aaron M. Scherer Wendy R. Uhlmann Sonia M. Suter Colleen Anderson Hartley Anya E. R. Prince Source Type: research
A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings
Genetics in Medicine, Published online: 26 August 2021; doi:10.1038/s41436-021-01295-7A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 26, 2021 Category: Genetics & Stem Cells Authors: Julie C. Sapp Flavia M. Facio Diane Cooper Katie L. Lewis Emily Modlin Philip van der Wees Leslie G. Biesecker Source Type: research
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Genetics in Medicine, Published online: 25 August 2021; doi:10.1038/s41436-021-01297-5Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 25, 2021 Category: Genetics & Stem Cells Authors: Zerin Hyder Eduardo Calpena Yang Pei Rebecca S. Tooze Helen Brittain Stephen R. F. Twigg Deirdre Cilliers Jenny E. V. Morton Emma McCann Astrid Weber Louise C. Wilson Andrew G. L. Douglas Ruth McGowan Anna Need Andrew Bond Ana Lisa Taylor Tavares Ellen R. Source Type: research
A qualitative investigation of biomedical informatics interoperability standards for genetic test reporting: benefits, challenges, and motivations from the testing laboratory’s perspective
Genetics in Medicine, Published online: 25 August 2021; doi:10.1038/s41436-021-01301-yA qualitative investigation of biomedical informatics interoperability standards for genetic test reporting: benefits, challenges, and motivations from the testing laboratory’s perspective (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 25, 2021 Category: Genetics & Stem Cells Authors: Aly Khalifa Clinton C. Mason Jennifer Hornung Garvin Marc S. Williams Guilherme Del Fiol Brian R. Jackson Steven B. Bleyl Stanley M. Huff Source Type: research
The design, implementation, and effectiveness of intervention strategies aimed at improving genetic referral practices: a systematic review of the literature
Genetics in Medicine, Published online: 24 August 2021; doi:10.1038/s41436-021-01272-0The design, implementation, and effectiveness of intervention strategies aimed at improving genetic referral practices: a systematic review of the literature (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 24, 2021 Category: Genetics & Stem Cells Authors: April Morrow Priscilla Chan Katherine M. Tucker Natalie Taylor Source Type: research
Correction to: Focused Revision: Policy statement on folic acid and neural tube defects
Genetics in Medicine, Published online: 19 August 2021; doi:10.1038/s41436-021-01299-3Correction to: Focused Revision: Policy statement on folic acid and neural tube defects (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 19, 2021 Category: Genetics & Stem Cells Authors: Priya Prasad Mari Mori Helga V. Toriello Source Type: research
Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy
Genetics in Medicine, Published online: 18 August 2021; doi:10.1038/s41436-021-01298-4Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 18, 2021 Category: Genetics & Stem Cells Authors: Annika M. Dries Anna Kirillova Chloe M. Reuter John Garcia Hana Zouk Megan Hawley Brittney Murray Crystal Tichnell Kalliopi Pilichou Alexandros Protonotarios Argelia Medeiros-Domingo Melissa A. Kelly Aris Baras Jodie Ingles Christopher Semsarian Barbara B Source Type: research
The persistent lack of knowledge and misunderstanding of the Genetic Information Nondiscrimination Act (GINA) more than a decade after passage
Genetics in Medicine, Published online: 16 August 2021; doi:10.1038/s41436-021-01268-wThe persistent lack of knowledge and misunderstanding of the Genetic Information Nondiscrimination Act (GINA) more than a decade after passage (Source: Genetics in Medicine)
Source: Genetics in Medicine - August 16, 2021 Category: Genetics & Stem Cells Authors: Andrea Lenartz Aaron M. Scherer Wendy R. Uhlmann Sonia M. Suter Colleen Anderson Hartley Anya E. R. Prince Source Type: research
