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

Primary care providers’ responses to unsolicited Lynch syndrome secondary findings of varying clinical significance
Genetics in Medicine, Published online: 10 June 2021; doi:10.1038/s41436-021-01225-7Primary care providers’ responses to unsolicited Lynch syndrome secondary findings of varying clinical significance (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 10, 2021 Category: Genetics & Stem Cells Authors: Lauren N. Galbraith Charlene L. Preys Heidi L. Rehm Maren T. Scheuner Catherine Hajek Robert C. Green Kurt D. Christensen Source Type: research

A framework for automated gene selection in genomic applications
Genetics in Medicine, Published online: 10 June 2021; doi:10.1038/s41436-021-01213-xA framework for automated gene selection in genomic applications (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 10, 2021 Category: Genetics & Stem Cells Authors: L. Lazo de la Vega W. Yu K. Machini C. A. Austin-Tse L. Hao C. L. Blout Zawatsky H. Mason-Suares R. C. Green H. L. Rehm M. S. Lebo Source Type: research

Ask me later: deciding to have clinical exome trio sequencing for my critically ill child
Genetics in Medicine, Published online: 10 June 2021; doi:10.1038/s41436-021-01231-9Ask me later: deciding to have clinical exome trio sequencing for my critically ill child (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 10, 2021 Category: Genetics & Stem Cells Authors: Jill Oliver Robinson Source Type: research

Correspondence on “Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation” by Thompson et al.
Genetics in Medicine, Published online: 10 June 2021; doi:10.1038/s41436-021-01235-5Correspondence on “Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation” by Thompson et al. (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 10, 2021 Category: Genetics & Stem Cells Authors: Carmen Suay-Corredera Jorge Alegre-Cebollada Source Type: research

Correspondence on “De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females” by Polla et al.
Genetics in Medicine, Published online: 02 June 2021; doi:10.1038/s41436-021-01208-8Correspondence on “De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females” by Polla et al. (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 2, 2021 Category: Genetics & Stem Cells Authors: Florence Riccardi Alexandre Astier Margot Grisval Arnaud Maillard Vincent Michaud Catherine Badens Christopher T. Gordon Aur élien Trimouille Laurence Faivre Jeanne Amiel Sabine Sigaudy Svetlana Gorokhova Source Type: research

Response to Riccardi et al.
Genetics in Medicine, Published online: 02 June 2021; doi:10.1038/s41436-021-01209-7Response to Riccardi et al. (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 2, 2021 Category: Genetics & Stem Cells Authors: A. P. M. de Brouwer Source Type: research

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
Genetics in Medicine, Published online: 30 May 2021; doi:10.1038/s41436-021-01196-9Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 30, 2021 Category: Genetics & Stem Cells Authors: Gabriel C. Dworschak Jaya Punetha Jeshurun C. Kalanithy Enrico Mingardo Haktan B. Erdem Zeynep C. Akdemir Ender Karaca Tadahiro Mitani Dana Marafi Jawid M. Fatih Shalini N. Jhangiani Jill V. Hunter Tikam Chand Dakal Bhanupriya Dhabhai Omar Dabbagh Hessa S Source Type: research

X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model
Genetics in Medicine, Published online: 28 May 2021; doi:10.1038/s41436-021-01224-8X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 28, 2021 Category: Genetics & Stem Cells Authors: Mark D. Levin Simona Bianconi Andrew Smith Niamh X. Cawley An Dang Do Dylan Hammond Julia F. Grafstein Audrey Thurm Judith Miller John Perreault Audrey Noguchi Danielle Springer Beth A. Kozel Christopher F. Spurney Christopher A. Wassif Zu-Xi Yu Andreas S Source Type: research

News
Genetics in Medicine, Published online: 28 May 2021; doi:10.1038/s41436-021-01221-xNews (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 28, 2021 Category: Genetics & Stem Cells Source Type: research

In This Issue
Genetics in Medicine, Published online: 28 May 2021; doi:10.1038/s41436-021-01220-yIn This Issue (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 28, 2021 Category: Genetics & Stem Cells Source Type: research

Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders
Genetics in Medicine, Published online: 26 May 2021; doi:10.1038/s41436-021-01206-wImproved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 26, 2021 Category: Genetics & Stem Cells Authors: Celine Bris David Gouden ège Valerie Desquiret-Dumas Naig Gueguen Sylvie Bannwarth Pauline Gaignard Benoit Rucheton Aurelien Trimouille Stephane Allouche Cecile Rouzier Samira Saadi Claude Jardel Abdel Slama Magalie Barth Christophe Verny Marco Spinazzi Source Type: research

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly
Genetics in Medicine, Published online: 26 May 2021; doi:10.1038/s41436-021-01182-1UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 26, 2021 Category: Genetics & Stem Cells Authors: Rhonda E. Schnur Sairah Yousaf James Liu Wendy K. Chung Lindsay Rhodes Michael Marble Regina M. Zambrano Nara Sobreira Parul Jayakar Mary Ella Pierpont Matthew J. Schultz Pavel N. Pichurin Rory J. Olson Gail E. Graham Matthew Osmond Gustavo A. Contreras-G Source Type: research

Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care
Genetics in Medicine, Published online: 26 May 2021; doi:10.1038/s41436-021-01210-0Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 26, 2021 Category: Genetics & Stem Cells Authors: Samuel A. Crawford Cynthia L. Gong Leah Yieh Linda M. Randolph Joel W. Hay Source Type: research

Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases
Genetics in Medicine, Published online: 26 May 2021; doi:10.1038/s41436-021-01200-2Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 26, 2021 Category: Genetics & Stem Cells Authors: Francis Rossignol Marvid S. Duarte Moreno Jean-Fran çois Benoist Manfred Boehm Emmanuelle Bourrat Aline Cano Brigitte Chabrol Claudine Cosson Jos é Luís Dapena Díaz Arthur D ’Harlingue David Dimmock Alexandra F. Freeman Mar ía Tallón García Chery Source Type: research

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth
Genetics in Medicine, Published online: 26 May 2021; doi:10.1038/s41436-021-01211-zSomatic PIK3R1 variation as a cause of vascular malformations and overgrowth (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 26, 2021 Category: Genetics & Stem Cells Authors: Catherine E. Cottrell Nicole R. Bender Michael T. Zimmermann Jonathan W. Heusel Meagan Corliss Michael J. Evenson Vincent Magrini Donald J. Corsmeier Matthew Avenarius Jeffrey N. Dudley Jennifer J. Johnston Marjorie J. Lindhurst Katinka Vigh-Conrad Olivia Source Type: research

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

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