Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
Genetics in Medicine, Published online: 08 April 2021; doi:10.1038/s41436-021-01152-7Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 8, 2021 Category: Genetics & Stem Cells Authors: Felix Marbach Georgi Stoyanov Florian Erger Constantine A. Stratakis Nikolaos Settas Edra London Jill A. Rosenfeld Erin Torti Chad Haldeman-Englert Evgenia Sklirou Elena Kessler Sophia Ceulemans Stanley F. Nelson Julian A. Martinez-Agosto Christina G. S. Source Type: research
Videoconferencing to deliver genetics services: a systematic review of telegenetics in light of the COVID-19 pandemic
Genetics in Medicine, Published online: 06 April 2021; doi:10.1038/s41436-021-01149-2Videoconferencing to deliver genetics services: a systematic review of telegenetics in light of the COVID-19 pandemic (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 6, 2021 Category: Genetics & Stem Cells Authors: Elizabeth G. Brown Isabella Watts Emily R. Beales Ashwini Maudhoo Judith Hayward Eamonn Sheridan Imran Rafi Source Type: research
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)
Genetics in Medicine, Published online: 06 April 2021; doi:10.1038/s41436-021-01140-xEnsuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics) (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 6, 2021 Category: Genetics & Stem Cells Authors: Amy Nisselle Monika Janinski Melissa Martyn Belinda McClaren Nadia Kaunein Jane Maguire Erin Rooney Riggs Kristine Barlow-Stewart Andrea Belcher John A. Bernat Stephanie Best Michelle Bishop June C. Carroll Martina Cornel Vajira H. W. Dissanayake Agnes Do Source Type: research
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder
Genetics in Medicine, Published online: 06 April 2021; doi:10.1038/s41436-021-01133-wBiallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 6, 2021 Category: Genetics & Stem Cells Authors: Daniel L. Polla Mohammad Ali Farazi Fard Zahra Tabatabaei Parham Habibzadeh Olga A. Levchenko Pooneh Nikuei Periklis Makrythanasis Mureed Hussain Sandra von Hardenberg Sirous Zeinali Mohammad-Sadegh Fallah Janneke H. M. Schuurs-Hoeijmakers Mohsin Shahzad Source Type: research
Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing
Genetics in Medicine, Published online: 06 April 2021; doi:10.1038/s41436-021-01142-9Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 6, 2021 Category: Genetics & Stem Cells Authors: Christopher Lee Omar Elsekaily David C. Kochan Lubna Alhalabi Faizan Faizee Richard Sharp Noralane M. Lindor Iftikhar J. Kullo Source Type: research
Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic
Genetics in Medicine, Published online: 06 April 2021; doi:10.1038/s41436-021-01157-2Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 6, 2021 Category: Genetics & Stem Cells Authors: Adri à López-Fernández Guillermo Villacampa Elia Grau M ónica Salinas Esther Darder Estela Carrasco Sara Torres-Esquius Silvia Iglesias Ares Solanes Neus Gadea Angela Velasco Gisela Urgell Maite Torres Noem í Tuset Joan Brunet Sergi Corbella Judith B Source Type: research
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
Genetics in Medicine, Published online: 06 April 2021; doi:10.1038/s41436-021-01129-6 (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 6, 2021 Category: Genetics & Stem Cells Authors: Fuad Chowdhury Lei Wang Mohammed Al-Raqad David J. Amor Alice Baxov á Šárka Bendová Elisa Biamino Alfredo Brusco Oana Caluseriu Nancy J. Cox Tawfiq Froukh Meral Gunay-Aygun Miroslava Han čárová Devon Haynes Solveig Heide George Hoganson Tadashi Kan Source Type: research
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)
Genetics in Medicine, Published online: 05 April 2021; doi:10.1038/s41436-021-01143-8 (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 5, 2021 Category: Genetics & Stem Cells Authors: Irini Manoli Alexandra R. Pass Elizabeth A. Harrington Jennifer L. Sloan Jack Gagn é Samantha McCoy Sarah L. Bell Jacob D. Hattenbach Brooks P. Leitner Courtney J. Duckworth Laura A. Fletcher Thomas M. Cassimatis Carolina I. Galarreta Audrey Thurm Joseph Source Type: research
Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine, Published online: 01 April 2021; doi:10.1038/s41436-021-01115-yLaboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 1, 2021 Category: Genetics & Stem Cells Authors: Elaine Spector Andrea Behlmann Kathryn Kronquist Nancy C. Rose Elaine Lyon Honey V. Reddi Source Type: research
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine, Published online: 31 March 2021; doi:10.1038/s41436-020-01083-9DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG) (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 31, 2021 Category: Genetics & Stem Cells Authors: Lora J. H. Bean Maren T. Scheuner Michael F. Murray Leslie G. Biesecker Robert C. Green Kristin G. Monaghan Glenn E. Palomaki Richard R. Sharp Tracy L. Trotter Michael S. Watson Cynthia M. Powell Source Type: research
From genes to public health: are we ready for DNA-based population screening?
Genetics in Medicine, Published online: 31 March 2021; doi:10.1038/s41436-021-01141-wFrom genes to public health: are we ready for DNA-based population screening? (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 31, 2021 Category: Genetics & Stem Cells Authors: Muin J. Khoury W. David Dotson Source Type: research
Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing
Genetics in Medicine, Published online: 29 March 2021; doi:10.1038/s41436-021-01147-4Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 29, 2021 Category: Genetics & Stem Cells Authors: Stephanie Guseh Louise Wilkins-Haug Anjali Kaimal Lisa Dunn-Albanese Sophie Adams Sarah Carroll Marie Discenza Lori Dobson Marney Brillinger Judith Foster Samantha Gbur Hayley Green Nancy Herrig Chelsea Mandigo Michelle Pacione Penelope Roberts Abigail Sa Source Type: research
Establishing the value of genomics in medicine: the IGNITE Pragmatic Trials Network
Genetics in Medicine, Published online: 29 March 2021; doi:10.1038/s41436-021-01118-9Establishing the value of genomics in medicine: the IGNITE Pragmatic Trials Network (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 29, 2021 Category: Genetics & Stem Cells Authors: Geoffrey S. Ginsburg Larisa H. Cavallari Hrishikesh Chakraborty Rhonda M. Cooper-DeHoff Paul R. Dexter Michael T. Eadon Bart S. Ferket Carol R. Horowitz Julie A. Johnson Joseph Kannry Natalie Kucher Ebony B. Madden Lori A. Orlando Wanda Parker Josh Peters Source Type: research
Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation
Genetics in Medicine, Published online: 29 March 2021; doi:10.1038/s41436-021-01134-9Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 29, 2021 Category: Genetics & Stem Cells Authors: Andrea D. Thompson Adam S. Helms Anamika Kannan Jaime Yob Neal K. Lakdawala Samuel G. Wittekind Alexandre C. Pereira Daniel L. Jacoby Steven D. Colan Euan A. Ashley Sara Saberi James S. Ware Jodie Ingles Christopher Semsarian Michelle Michels Francesco Ma Source Type: research
Artificial intelligence–assisted phenotype discovery of fragile X syndrome in a population-based sample
Genetics in Medicine, Published online: 26 March 2021; doi:10.1038/s41436-021-01144-7Artificial intelligence–assisted phenotype discovery of fragile X syndrome in a population-based sample (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 26, 2021 Category: Genetics & Stem Cells Authors: Arezoo Movaghar David Page Danielle Scholze Jinkuk Hong Leann Smith DaWalt Finn Kuusisto Ron Stewart Murray Brilliant Marsha Mailick Source Type: research
