Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection
Genetics in Medicine, Published online: 10 May 2021; doi:10.1038/s41436-021-01183-0Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 10, 2021 Category: Genetics & Stem Cells Authors: Wendy K. Chung Kyle Brothers Angela Bradbury Sirisak Chanprasert Lori Orlando Ali Torkamani Heather Zierhut Marylyn D. Ritchie Michael Phillips Jennifer Schoden Deborah Maiese Tabitha Hendershot Carol M. Hamilton Erin M. Ramos Source Type: research
Correction to: Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome
Genetics in Medicine, Published online: 10 May 2021; doi:10.1038/s41436-021-01191-0Correction to: Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 10, 2021 Category: Genetics & Stem Cells Authors: Minna Luo Zaisheng Lin Tian Zhu Minjun Jin Dan Meng Ruida He Zongfu Cao Yue Shen Chao Lu Ruikun Cai Yong Zhao Xueyan Wang Hui Li Shijing Wu Xuan Zou Guanjun Luo Li Cao Min Huang Huike Jiao Huafang Gao Ruifang Sui Chengtian Zhao Xu Ma Muqing Cao Source Type: research
Correction to: 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: 10 May 2021; doi:10.1038/s41436-021-01188-9Correction to: 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA) (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 10, 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 business models and practices: implications for availability and access to germline genetic testing
Genetics in Medicine, Published online: 06 May 2021; doi:10.1038/s41436-021-01184-zLaboratory business models and practices: implications for availability and access to germline genetic testing (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 6, 2021 Category: Genetics & Stem Cells Authors: Maren T. Scheuner Michael P. Douglas Paloma Sales Sara L. Ackerman Kathryn A. Phillips Source Type: research
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype–phenotype correlation in congenital central hypoventilation syndrome (CCHS)
Genetics in Medicine, Published online: 06 May 2021; doi:10.1038/s41436-021-01178-xPaired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype–phenotype correlation in congenital central hypoventilation syndrome (CCHS) (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 6, 2021 Category: Genetics & Stem Cells Authors: Amy Zhou Casey M. Rand Sara M. Hockney Grace Niewijk Patrick Reineke Virginia Speare Elizabeth M. Berry-Kravis Lili Zhou Lawrence J. Jennings Min Yu Isabella Ceccherini Tiziana Bachetti Melanie Pennock Kai Lee Yap Debra E. Weese-Mayer Source Type: research
Correction: A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers
Genetics in Medicine, Published online: 06 May 2021; doi:10.1038/s41436-021-01099-9Correction: A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 6, 2021 Category: Genetics & Stem Cells Authors: Sandesh C. S. Nagamani Umang Agarwal Allison Tam Mahshid Azamian Ann McMeans Inka C. Didelija Mahmoud A. Mohammad Juan C. Marini Source Type: research
Correction to: Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy number variants
Genetics in Medicine, Published online: 06 May 2021; doi:10.1038/s41436-021-01190-1Correction to: Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy number variants (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 6, 2021 Category: Genetics & Stem Cells Authors: Erica Soster Theresa Boomer Susan Hicks Samantha Caldwell Brittany Dyr Jason Chibuk Eyad Almasri Source Type: research
Response to Gao et al.
Genetics in Medicine, Published online: 03 May 2021; doi:10.1038/s41436-021-01168-zResponse to Gao et al. (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 3, 2021 Category: Genetics & Stem Cells Authors: Eliane Beauregard-Lacroix Philippe M. Campeau Source Type: research
Correspondence on “DOORS syndrome and a recurrent truncating ATP6V1B2 variant” by Beauregard-Lacroix et al.
Genetics in Medicine, Published online: 03 May 2021; doi:10.1038/s41436-021-01167-0Correspondence on “DOORS syndrome and a recurrent truncating ATP6V1B2 variant” by Beauregard-Lacroix et al. (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 3, 2021 Category: Genetics & Stem Cells Authors: Xue Gao Pu Dai Yong-Yi Yuan Source Type: research
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
Genetics in Medicine, Published online: 03 May 2021; doi:10.1038/s41436-021-01158-1Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 3, 2021 Category: Genetics & Stem Cells Authors: Paolo Zanoni Katharina Steindl Deepanwita Sengupta Pascal Joset Angela Bahr Heinrich Sticht Mariarosaria Lang-Muritano Conny M. A. van Ravenswaaij-Arts Marwan Shinawi Marisa Andrews Tania Attie-Bitach Isabelle Maystadt Newell Belnap Valerie Benoit Geoffro Source Type: research
The 2019 US medical genetics workforce: a focus on clinical genetics
Genetics in Medicine, Published online: 03 May 2021; doi:10.1038/s41436-021-01162-5The 2019 US medical genetics workforce: a focus on clinical genetics (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 3, 2021 Category: Genetics & Stem Cells Authors: Brittany D. Jenkins Catherine G. Fischer Curt A. Polito Deborah R. Maiese Alisha S. Keehn Megan Lyon Mathew J. Edick Matthew R. G. Taylor Hans C. Andersson Joann N. Bodurtha Miriam G. Blitzer Maximilian Muenke Michael S. Watson Source Type: research
Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain—a patient-reported outcome efficacy measure
Genetics in Medicine, Published online: 03 May 2021; doi:10.1038/s41436-021-01176-zErythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain—a patient-reported outcome efficacy measure (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 3, 2021 Category: Genetics & Stem Cells Authors: D. Wensink J. G. Langendonk J. R. Overbey M. Balwani E. J. E. Van Broekhoven M. A. E. M. Wagenmakers J. H. P. Wilson K. Wheeden H. Naik R. J. Desnick Source Type: research
Correction to: Pitfalls of clinical exome and gene panel testing: alternative transcripts
Genetics in Medicine, Published online: 03 May 2021; doi:10.1038/s41436-021-01131-yCorrection to: Pitfalls of clinical exome and gene panel testing: alternative transcripts (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 3, 2021 Category: Genetics & Stem Cells Authors: Dale L. Bodian Prachi Kothiyal Natalie S. Hauser Source Type: research
Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size
Genetics in Medicine, Published online: 29 April 2021; doi:10.1038/s41436-021-01177-yRefining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 29, 2021 Category: Genetics & Stem Cells Authors: Emily Graves Allen Krista Charen Heather S. Hipp Lisa Shubeck Ashima Amin Weiya He Sarah L. Nolin Anne Glicksman Nicole Tortora Bonnie McKinnon Katharine E. Shelly Stephanie L. Sherman Source Type: research
Approaches to assessing the provider experience with clinical pharmacogenomic information: a scoping review
Genetics in Medicine, Published online: 29 April 2021; doi:10.1038/s41436-021-01186-xApproaches to assessing the provider experience with clinical pharmacogenomic information: a scoping review (Source: Genetics in Medicine)
Source: Genetics in Medicine - April 29, 2021 Category: Genetics & Stem Cells Authors: Nicholas J. Keeling Tyler J. Dunn John P. Bentley Sujith Ramachandran James M. Hoffman Meagen Rosenthal Source Type: research
