A randomized controlled trial of genetic testing and cascade screening in familial hypercholesterolemia
Genetics in Medicine, Published online: 26 May 2021; doi:10.1038/s41436-021-01192-zA randomized controlled trial of genetic testing and cascade screening in familial hypercholesterolemia (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 26, 2021 Category: Genetics & Stem Cells Authors: Ezimamaka Ajufo Emil M. deGoma Anna Raper Kristen Dilzell Yu Marina Cuchel Daniel J. Rader Source Type: research
SNORD116 and growth hormone therapy impact IGFBP7 in Prader–Willi syndrome
Genetics in Medicine, Published online: 26 May 2021; doi:10.1038/s41436-021-01185-y (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 26, 2021 Category: Genetics & Stem Cells Authors: Sanaa Eddiry Gwenaelle Diene Catherine Molinas Juliette Salles Fran çoise Conte Auriol Isabelle Gennero Eric Bieth Boris V. Skryabin Timofey S. Rozhdestvensky Lisa C. Burnett Rudolph L. Leibel Maith é Tauber Jean Pierre Salles Source Type: research
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
Genetics in Medicine, Published online: 26 May 2021; doi:10.1038/s41436-021-01202-0Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 26, 2021 Category: Genetics & Stem Cells Authors: Silvia Martin-Almedina Kazim Ogmen Ege Sackey Dionysios Grigoriadis Christina Karapouliou Noeline Nadarajah Cathrine Ebbing Jenny Lord Rhiannon Mellis Fanny Kortuem Mary Beth Dinulos Cassandra Polun Sherri Bale Giles Atton Alexandra Robinson Hallvard Reig Source Type: research
ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine, Published online: 20 May 2021; doi:10.1038/s41436-021-01172-3ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 20, 2021 Category: Genetics & Stem Cells Authors: David T. Miller Kristy Lee Wendy K. Chung Adam S. Gordon Gail E. Herman Teri E. Klein Douglas R. Stewart Laura M. Amendola Kathy Adelman Sherri J. Bale Michael H. Gollob Steven M. Harrison Ray E. Hershberger Kent McKelvey C. Sue Richards Christopher N. Vl Source Type: research
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine, Published online: 20 May 2021; doi:10.1038/s41436-021-01171-4Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG) (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 20, 2021 Category: Genetics & Stem Cells Authors: David T. Miller Kristy Lee Adam S. Gordon Laura M. Amendola Kathy Adelman Sherri J. Bale Wendy K. Chung Michael H. Gollob Steven M. Harrison Gail E. Herman Ray E. Hershberger Teri E. Klein Kent McKelvey C. Sue Richards Christopher N. Vlangos Douglas R. St Source Type: research
Privacy practices using genetic data from cell-free DNA aneuploidy screening
Genetics in Medicine, Published online: 19 May 2021; doi:10.1038/s41436-021-01205-xPrivacy practices using genetic data from cell-free DNA aneuploidy screening (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 19, 2021 Category: Genetics & Stem Cells Authors: Christian M. Parobek Melissa L. Russo Adam K. Lewkowitz Source Type: research
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Genetics in Medicine, Published online: 19 May 2021; doi:10.1038/s41436-021-01170-5Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 19, 2021 Category: Genetics & Stem Cells Authors: Eric Legius Ludwine Messiaen Pierre Wolkenstein Patrice Pancza Robert A. Avery Yemima Berman Jaishri Blakeley Dusica Babovic-Vuksanovic Karin Soares Cunha Rosalie Ferner Michael J. Fisher Jan M. Friedman David H. Gutmann Hildegard Kehrer-Sawatzki Bruce R. Source Type: research
Severity modeling of propionic acidemia using clinical and laboratory biomarkers
Genetics in Medicine, Published online: 18 May 2021; doi:10.1038/s41436-021-01173-2 (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 18, 2021 Category: Genetics & Stem Cells Authors: Oleg A. Shchelochkov Irini Manoli Paul Juneau Jennifer L. Sloan Susan Ferry Jennifer Myles Megan Schoenfeld Alexandra Pass Samantha McCoy Carol Van Ryzin Olivia Wenger Mark Levin Wadih Zein Laryssa Huryn Joseph Snow Colby Chlebowski Audrey Thurm Jeffrey B Source Type: research
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation
Genetics in Medicine, Published online: 18 May 2021; doi:10.1038/s41436-021-01187-wOne in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 18, 2021 Category: Genetics & Stem Cells Authors: Stephen E. Lincoln Tina Hambuch Justin M. Zook Sara L. Bristow Kathryn Hatchell Rebecca Truty Michael Kennemer Brian H. Shirts Andrew Fellowes Shimul Chowdhury Eric W. Klee Shazia Mahamdallie Megan H. Cleveland Peter M. Vallone Yan Ding Sheila Seal Wasant Source Type: research
Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States
Genetics in Medicine, Published online: 18 May 2021; doi:10.1038/s41436-021-01165-2Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 18, 2021 Category: Genetics & Stem Cells Authors: Julie E. Hoover-Fong Adekemi Y. Alade S. Shahrukh Hashmi Jacqueline T. Hecht Janet M. Legare Mary Ellen Little Chengxin Liu John McGready Peggy Modaff Richard M. Pauli David F. Rodriguez-Buritica Kerry J. Schulze Maria Elena Serna Cory J. Smid Michael B. Source Type: research
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry
Genetics in Medicine, Published online: 18 May 2021; doi:10.1038/s41436-021-01197-8 (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 18, 2021 Category: Genetics & Stem Cells Authors: Juliann M. Savatt Danielle R. Azzariti David H. Ledbetter Emily Palen Heidi L. Rehm Erin Rooney Riggs Christa Lese Martin Source Type: research
Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine, Published online: 11 May 2021; doi:10.1038/s41436-021-01151-8Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 11, 2021 Category: Genetics & Stem Cells Authors: Marc Tischkowitz Judith Balma ña William D. Foulkes Paul James Joanne Ngeow Rita Schmutzler Nicoleta Voian Myra J. Wick Douglas R. Stewart Tuya Pal Source Type: research
Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test
Genetics in Medicine, Published online: 11 May 2021; doi:10.1038/s41436-021-01193-yRandomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 11, 2021 Category: Genetics & Stem Cells Authors: Deanna G. Brockman Christina A. Austin-Tse Ren ée C. Pelletier Caroline Harley Candace Patterson Holly Head Courtney Elizabeth Leonard Kimberly O ’Brien Lisa M. Mahanta Matthew S. Lebo Christine Y. Lu Pradeep Natarajan Amit V. Khera Krishna G. Aragam S Source Type: research
Reproductive outcomes in individuals with chromosomal reciprocal translocations
Genetics in Medicine, Published online: 10 May 2021; doi:10.1038/s41436-021-01195-wReproductive outcomes in individuals with chromosomal reciprocal translocations (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 10, 2021 Category: Genetics & Stem Cells Authors: Angela Verdoni Jie Hu Urvashi Surti Melanie Babcock Elizabeth Sheehan Michele Clemens Sarah Drewes Leslie Walsh Rebecca Clark Sunita Katari Joe Sanfilippo Devereux N. Saller Aleksandar Rajkovic Svetlana A. Yatsenko Source Type: research
Genetic counseling and testing for Asian Americans: a systematic review
Genetics in Medicine, Published online: 10 May 2021; doi:10.1038/s41436-021-01169-yGenetic counseling and testing for Asian Americans: a systematic review (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 10, 2021 Category: Genetics & Stem Cells Authors: Jennifer L. Young Julie Mak Talia Stanley Michelle Bass Mildred K. Cho Holly K. Tabor Source Type: research
