In This Issue
Genetics in Medicine, Published online: 24 June 2021; doi:10.1038/s41436-021-01252-4In This Issue (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 24, 2021 Category: Genetics & Stem Cells Source Type: research
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Genetics in Medicine, Published online: 23 June 2021; doi:10.1038/s41436-021-01232-8Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 23, 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
Genome-wide cell-free DNA screening: a focus on copy-number variants
Genetics in Medicine, Published online: 21 June 2021; doi:10.1038/s41436-021-01227-5Genome-wide cell-free DNA screening: a focus on copy-number variants (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 21, 2021 Category: Genetics & Stem Cells Authors: Jill Rafalko Erica Soster Samantha Caldwell Eyad Almasri Thomas Westover Vivian Weinblatt Philip Cacheris Source Type: research
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype
Genetics in Medicine, Published online: 18 June 2021; doi:10.1038/s41436-021-01204-yInherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 18, 2021 Category: Genetics & Stem Cells Authors: Satyamaanasa Polubothu Davide Zecchin Lara Al-Olabi Dani ël A. Lionarons Mark Harland Stuart Horswell Anna C. Thomas Lilian Hunt Nathan Wlodarchak Paula Aguilera Sarah Brand Dale Bryant Cristina Carrera Hui Chen Greg Elgar Catherine A. Harwood Michael Ho Source Type: research
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
Genetics in Medicine, Published online: 17 June 2021; doi:10.1038/s41436-021-01194-xNeutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 17, 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
Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine, Published online: 17 June 2021; doi:10.1038/s41436-021-01207-9Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 17, 2021 Category: Genetics & Stem Cells Authors: Rong Mao Patti Krautscheid Rondell P. Graham Arupa Ganguly Suma Shankar Matthew Ferber Madhuri Hegde Source Type: research
Response to Suay-Corredera et al.
Genetics in Medicine, Published online: 16 June 2021; doi:10.1038/s41436-021-01236-4Response to Suay-Corredera et al. (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 16, 2021 Category: Genetics & Stem Cells Authors: Andrea D. Thompson Sharlene M. Day Source Type: research
Response to Stern et al.
Genetics in Medicine, Published online: 16 June 2021; doi:10.1038/s41436-021-01229-3Response to Stern et al. (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 16, 2021 Category: Genetics & Stem Cells Authors: Shira G. Ziegler Carlos R. Ferreira Source Type: research
Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine, Published online: 15 June 2021; doi:10.1038/s41436-021-01214-wChromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 15, 2021 Category: Genetics & Stem Cells Authors: Lina Shao Yassmine Akkari Linda D. Cooley David T. Miller Bryce A. Seifert Daynna J. Wolff Fady M. Mikhail Source Type: research
Correspondence on “Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)” by Ferreira et al.
Genetics in Medicine, Published online: 14 June 2021; doi:10.1038/s41436-021-01228-4Correspondence on “Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)” by Ferreira et al. (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 14, 2021 Category: Genetics & Stem Cells Authors: Rachel Stern Daniel S. Levi Barbara Gales Frank Rutsch Isidro B. Salusky Source Type: research
The genetic architecture of Plakophilin 2 cardiomyopathy
Genetics in Medicine, Published online: 12 June 2021; doi:10.1038/s41436-021-01233-7The genetic architecture of Plakophilin 2 cardiomyopathy (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 12, 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
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
Genetics in Medicine, Published online: 10 June 2021; doi:10.1038/s41436-021-01216-8Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 10, 2021 Category: Genetics & Stem Cells Authors: Thomas A. Ravenscroft Jennifer B. Phillips Elizabeth Fieg Sameer S. Bajikar Judy Peirce Jeremy Wegner Alia A. Luna Eric J. Fox Yi-Lin Yan Jill A. Rosenfeld Jonathan Zirin Oguz Kanca Maria T. Acosta Margaret Adam David R. Adams Pankaj B. Agrawal Mercedes E Source Type: research
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
Genetics in Medicine, Published online: 10 June 2021; doi:10.1038/s41436-021-01218-6Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 10, 2021 Category: Genetics & Stem Cells Authors: Quentin Thomas Thierry Gautier Dana Marafi Thomas Besnard Marjolaine Willems S ébastien Moutton Bertand Isidor Benjamin Cogn é Sol ène Conrad Romano Tenconi Maria Iascone Arthur Sorlin Alice Masurel Tabib Dabir Adam Jackson Siddharth Banka Julian Delan Source Type: research
GenomeDiver: a platform for phenotype-guided medical genomic diagnosis
Genetics in Medicine, Published online: 10 June 2021; doi:10.1038/s41436-021-01219-5 (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 10, 2021 Category: Genetics & Stem Cells Authors: Nathaniel M. Pearson Christian Stolte Kevin Shi Faygel Beren Noura S. Abul-Husn Gabrielle Bertier Kaitlyn Brown George A. Diaz Jacqueline A. Odgis Sabrina A. Suckiel Carol R. Horowitz Melissa Wasserstein Bruce D. Gelb Eimear E. Kenny Charles Gagnon Vaideh Source Type: research
Cost or price of sequencing? Implications for economic evaluations in genomic medicine
Genetics in Medicine, Published online: 10 June 2021; doi:10.1038/s41436-021-01223-9Cost or price of sequencing? Implications for economic evaluations in genomic medicine (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 10, 2021 Category: Genetics & Stem Cells Authors: Scott D. Grosse James M. Gudgeon Source Type: research
