Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Genetics in Medicine, Published online: 15 July 2020; doi:10.1038/s41436-020-0862-xPolygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 15, 2020 Category: Genetics & Stem Cells Authors: Daniel R. Barnes Matti A. Rookus Lesley McGuffog Goska Leslie Thea M. Mooij Joe Dennis Nasim Mavaddat Julian Adlard Munaza Ahmed Kristiina Aittom äki Nadine Andrieu Irene L. Andrulis Norbert Arnold Banu K. Arun Jacopo Azzollini Judith Balma ña Rosa B. B Source Type: research

Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time
Genetics in Medicine, Published online: 15 July 2020; doi:10.1038/s41436-020-0900-8Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 15, 2020 Category: Genetics & Stem Cells Authors: Jeroen van Rooij Pascal Arp Linda Broer Joost Verlouw Frank van Rooij Robert Kraaij Andr é Uitterlinden Annemieke J. M. H. Verkerk Source Type: research

A six-attribute classification of genetic mosaicism
Genetics in Medicine, Published online: 14 July 2020; doi:10.1038/s41436-020-0877-3A six-attribute classification of genetic mosaicism (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 14, 2020 Category: Genetics & Stem Cells Authors: V íctor Martínez-Glez Jair Tenorio Juli án Nevado Gema Gordo Lara Rodr íguez-Laguna Marta Feito Ra úl de Lucas Luis A. P érez-Jurado V íctor L. Ruiz Pérez Antonio Torrelo Nancy B. Spinner Rudolf Happle Leslie G. Biesecker Pablo Lapunzina Source Type: research

Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East
Genetics in Medicine, Published online: 14 July 2020; doi:10.1038/s41436-020-0895-1Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 14, 2020 Category: Genetics & Stem Cells Authors: Ferdinando Squitieri Tommaso Mazza Sabrina Maffi Alessandro De Luca Qasem AlSalmi Salma AlHarasi Jennifer A. Collins Chris Kay Fiona Baine-Savanhu Bernard G. Landwhermeyer Umberto Sabatini Michael R. Hayden Source Type: research

The multiple faces of urinary glucose tetrasaccharide as biomarker for patients with hepatic glycogen storage diseases
Genetics in Medicine, Published online: 13 July 2020; doi:10.1038/s41436-020-0878-2The multiple faces of urinary glucose tetrasaccharide as biomarker for patients with hepatic glycogen storage diseases (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 13, 2020 Category: Genetics & Stem Cells Authors: M. Rebecca Heiner-Fokkema Jennifer van der Krogt Foekje de Boer Marieke J. Fokkert-Wilts Ronald G. H. J. Maatman Irene J. Hoogeveen Terry G. J. Derks Source Type: research

Response to Heiner-Fokkema et al.
Genetics in Medicine, Published online: 13 July 2020; doi:10.1038/s41436-020-0879-1Response to Heiner-Fokkema et al. (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 13, 2020 Category: Genetics & Stem Cells Authors: Sarah P. Young Aleena A. Khan Stephanie L. Austin Priya S. Kishnani Source Type: research

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions
Genetics in Medicine, Published online: 13 July 2020; doi:10.1038/s41436-020-0897-zLow-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 13, 2020 Category: Genetics & Stem Cells Authors: Tomasz Gambin Qian Liu Justyna A. Karolak Christopher M. Grochowski Nina G. Xie Lucia R. Wu Yan Helen Yan Ye Cao Zeynep H. Coban Akdemir Theresa A. Wilson Shalini N. Jhangiani Ed Chen Christine M. Eng Donna Muzny Jennifer E. Posey Yaping Yang David Y. Zha Source Type: research

Correction: The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review
Genetics in Medicine, Published online: 10 July 2020; doi:10.1038/s41436-020-0903-5Correction: The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 10, 2020 Category: Genetics & Stem Cells Authors: Nick Dragojlovic Kennedy Borle Nicola Kopac Ursula Ellis Patricia Birch Shelin Adam Jan M. Friedman Amy Nisselle Alison M. Elliott Jehannine Austin Bartha Knoppers Larry D. Lynd Alivia Dey Shelin Adam Nick Bansback Patricia Birch Lorne Clarke Nick Dragojl Source Type: research

Educating military primary health-care providers in genomic medicine: lessons learned from the MilSeq Project
Genetics in Medicine, Published online: 10 July 2020; doi:10.1038/s41436-020-0865-7Educating military primary health-care providers in genomic medicine: lessons learned from the MilSeq Project (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 10, 2020 Category: Genetics & Stem Cells Authors: Megan D. Maxwell Rebecca Hsu Rubaiya Islam Jill O. Robinson Stacey Pereira Cubby L. Gardner Robert C. Green Megan D. Maxwell Rebecca Hsu Jill O. Robinson Stacey Pereira Cubby L. Gardner Robert C. Green Mauricio De Castro Mauricio De Castro Source Type: research

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
Genetics in Medicine, Published online: 07 July 2020; doi:10.1038/s41436-020-0886-2Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 7, 2020 Category: Genetics & Stem Cells Authors: Eduardo Calpena Araceli Cuellar Krithi Bala Sigrid M. A. Swagemakers Nils Koelling Simon J. McGowan Julie M. Phipps Meena Balasubramanian Michael L. Cunningham Sofia Douzgou Wanda Lattanzi Jenny E. V. Morton Deborah Shears Astrid Weber Louise C. Wilson He Source Type: research

Addendum: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation
Genetics in Medicine, Published online: 06 July 2020; doi:10.1038/s41436-020-0875-5Addendum: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 6, 2020 Category: Genetics & Stem Cells Authors: Edward D. Esplin Source Type: research

Addendum: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation
Genetics in Medicine, Published online: 06 July 2020; doi:10.1038/s41436-020-0875-5Addendum: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 6, 2020 Category: Genetics & Stem Cells Authors: Edward D. Esplin Source Type: research

Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort
Genetics in Medicine, Published online: 06 July 2020; doi:10.1038/s41436-020-0884-4Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 6, 2020 Category: Genetics & Stem Cells Authors: Inge M. M. Lakeman Mar Rodr íguez-Girondo Andrew Lee Rikje Ruiter Bruno H. Stricker Sara R. A. Wijnant Maryam Kavousi Antonis C. Antoniou Marjanka K. Schmidt Andr é G. Uitterlinden Jeroen van Rooij Peter Devilee Source Type: research

Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing
Genetics in Medicine, Published online: 06 July 2020; doi:10.1038/s41436-020-0880-8Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 6, 2020 Category: Genetics & Stem Cells Authors: My Linh Thibodeau Kieran O ’Neill Katherine Dixon Caralyn Reisle Karen L. Mungall Martin Krzywinski Yaoqing Shen Howard J. Lim Dean Cheng Kane Tse Tina Wong Eric Chuah Alexandra Fok Sophie Sun Daniel Renouf David F. Schaeffer Carol Cremin Stephen Chia S Source Type: research

Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center
Genetics in Medicine, Published online: 03 July 2020; doi:10.1038/s41436-020-0868-4Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 3, 2020 Category: Genetics & Stem Cells Authors: Rachel Michaelson-Cohen Liat Salzer-Sheelo Rivka Sukenik-Halevy Arie Koifman Avi Fellner Adi Reches Daphna Marom Doron M. Behar Efrat Sofrin-Drucker Gal Zaks-Hoffer Monika Weiss-Hubshmann Naama Oresntein Nesia Kropach-Gilad Noa Rhurman-Shahar Noa Shefer A Source Type: research

In This Issue
Genetics in Medicine, Published online: 02 July 2020; doi:10.1038/s41436-020-0859-5In This Issue (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 2, 2020 Category: Genetics & Stem Cells Authors: V. L. Dengler Source Type: research

News
Genetics in Medicine, Published online: 02 July 2020; doi:10.1038/s41436-020-0860-zNews (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 2, 2020 Category: Genetics & Stem Cells Authors: V. L. Dengler Source Type: research

Response to Ferket et al.
Genetics in Medicine, Published online: 01 July 2020; doi:10.1038/s41436-020-0889-zResponse to Ferket et al. (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 1, 2020 Category: Genetics & Stem Cells Authors: Deborah Schofield Luke Rynehart Rupendra Shresthra Susan M. White Zornitza Stark Source Type: research

Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals
Genetics in Medicine, Published online: 01 July 2020; doi:10.1038/s41436-020-0881-7Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 1, 2020 Category: Genetics & Stem Cells Authors: Paul Lacaze Robert Sebra Moeen Riaz Jane Tiller Jerico Revote James Phung Emily J. Parker Suzanne G. Orchard Jessica E. Lockery Rory Wolfe Maya Strahl Ying C. Wang Rong Chen Daniel Sisco Todd Arnold Bryony A. Thompson Daniel D. Buchanan Finlay A. Macrae P Source Type: research

Message from ACMG President: overcoming disparities
Genetics in Medicine, Published online: 30 June 2020; doi:10.1038/s41436-020-0882-6Message from ACMG President: overcoming disparities (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 30, 2020 Category: Genetics & Stem Cells Authors: Anthony R. Gregg Source Type: research

Correspondence on: “Discrepancy in Spinal Muscular Atrophy Incidence findings in newborn screening programs: the influence of carrier screening?” by Kay et al
Genetics in Medicine, Published online: 30 June 2020; doi:10.1038/s41436-020-0887-1Correspondence on: “Discrepancy in Spinal Muscular Atrophy Incidence findings in newborn screening programs: the influence of carrier screening?” by Kay et al (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 30, 2020 Category: Genetics & Stem Cells Authors: Tamara Dangouloff Fran çois Boemer Jean-Hubert Caberg Laurent Servais Source Type: research

Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study
Genetics in Medicine, Published online: 30 June 2020; doi:10.1038/s41436-020-0890-6Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 30, 2020 Category: Genetics & Stem Cells Authors: Alexander A. Iyer Julie R. Barzilay Holly K. Tabor Source Type: research

Clinical outcomes of a genomic screening program for actionable genetic conditions
Genetics in Medicine, Published online: 30 June 2020; doi:10.1038/s41436-020-0876-4Clinical outcomes of a genomic screening program for actionable genetic conditions (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 30, 2020 Category: Genetics & Stem Cells Authors: Adam H. Buchanan H. Lester Kirchner Marci L. B. Schwartz Melissa A. Kelly Tara Schmidlen Laney K. Jones Miranda L. G. Hallquist Heather Rocha Megan Betts Rachel Schwiter Loren Butry Amanda L. Lazzeri Lauren R. Frisbie Alanna Kulchak Rahm Jing Hao Huntingt Source Type: research

Economic value of exome sequencing for suspected monogenic disorders
Genetics in Medicine, Published online: 30 June 2020; doi:10.1038/s41436-020-0888-0Economic value of exome sequencing for suspected monogenic disorders (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 30, 2020 Category: Genetics & Stem Cells Authors: Bart S. Ferket David L. Veenstra Source Type: research

A molecular basis for neurofibroma-associated skeletal manifestations in NF1
Genetics in Medicine, Published online: 30 June 2020; doi:10.1038/s41436-020-0885-3A molecular basis for neurofibroma-associated skeletal manifestations in NF1 (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 30, 2020 Category: Genetics & Stem Cells Authors: Yun Ma Andrea M. Gross Eva Dombi Alexander Pemov Kwangmin Choi Katherine Chaney Steven D. Rhodes Steven P. Angus Noah Sciaky D. Wade Clapp Nancy Ratner Brigitte C. Widemann Jonathan J. Rios Florent Elefteriou Source Type: research

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines
Genetics in Medicine, Published online: 29 June 2020; doi:10.1038/s41436-020-0869-3Genetic ancestry analysis on>93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 29, 2020 Category: Genetics & Stem Cells Authors: Kristjan E. Kaseniit Imran S. Haque James D. Goldberg Lee P. Shulman Dale Muzzey Source Type: research

Correction: Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing
Genetics in Medicine, Published online: 26 June 2020; doi:10.1038/s41436-020-0891-5Correction: Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 26, 2020 Category: Genetics & Stem Cells Authors: Michael T. Bashford Scott E. Hickey Cynthia J. Curry Helga V. Toriello Source Type: research

Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2
Genetics in Medicine, Published online: 24 June 2020; doi:10.1038/s41436-020-0883-5Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2 (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 24, 2020 Category: Genetics & Stem Cells Authors: Romy L. S. Mesman Fabienne M. G. R. Call éja Miguel de la Hoya Peter Devilee Christi J. van Asperen Harry Vrieling Maaike P. G. Vreeswijk Source Type: research

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
Genetics in Medicine, Published online: 24 June 2020; doi:10.1038/s41436-020-0864-8CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 24, 2020 Category: Genetics & Stem Cells Authors: Bo Yuan Lei Wang Pengfei Liu Chad Shaw Hongzheng Dai Lance Cooper Wenmiao Zhu Stephanie A. Anderson Linyan Meng Xia Wang Yue Wang Fan Xia Rui Xiao Alicia Braxton Sandra Peacock Eric Schmitt Patricia A. Ward Francesco Vetrini Weimin He Theodore Chiang Donn Source Type: research

The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review
Genetics in Medicine, Published online: 24 June 2020; doi:10.1038/s41436-020-0825-2The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 24, 2020 Category: Genetics & Stem Cells Authors: Nick Dragojlovic Kennedy Borle Nicola Kopac Ursula Ellis Patricia Birch Shelin Adam Jan M. Friedman Amy Nisselle Alison M. Elliott Jehannine Austin Bartha Knoppers Larry D. Lynd Alivia Dey Shelin Adam Nick Bansback Patricia Birch Lorne Clarke Nick Dragojl Source Type: research

Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility
Genetics in Medicine, Published online: 23 June 2020; doi:10.1038/s41436-020-0850-1Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 23, 2020 Category: Genetics & Stem Cells Authors: Claire Green Neeti Ghali Rhoda Akilapa Chloe Angwin Duncan Baker Marion Bartlett Jessica Bowen Angela F. Brady Joanna Brock Erin Chamberlain Harveer Cheema Vivienne McConnell Renarta Crookes Hanadi Kazkaz Diana Johnson F. Michael Pope Anthony Vandersteen Source Type: research

Late morbidity and mortality in adult survivors of childhood glioma with neurofibromatosis type 1: report from the Childhood Cancer Survivor Study
Genetics in Medicine, Published online: 23 June 2020; doi:10.1038/s41436-020-0873-7Late morbidity and mortality in adult survivors of childhood glioma with neurofibromatosis type 1: report from the Childhood Cancer Survivor Study (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 23, 2020 Category: Genetics & Stem Cells Authors: Peter de Blank Nan Li Michael J. Fisher Nicole J. Ullrich Smita Bhatia Yutaka Yasui Charles A. Sklar Wendy Leisenring Rebecca Howell Kevin Oeffinger Kristina Hardy M. Fatih Okcu Todd M. Gibson Leslie L. Robison Gregory T. Armstrong Kevin R. Krull Source Type: research

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
Genetics in Medicine, Published online: 22 June 2020; doi:10.1038/s41436-020-0872-8Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 22, 2020 Category: Genetics & Stem Cells Authors: Solveig Heide Myrtille Spentchian St éphanie Valence Julien Buratti Corinne Mach Elodie Lejeune Val érie Olin Marta Massimello Daphn é Lehalle Linda Mouthon Sandra Whalen Anne Faudet Cyril Mignot Catherine Garel Eleonore Blondiaux Mathilde Lefebvre Gen Source Type: research

Genetic testing and results disclosure in diverse populations: what does it take?
Genetics in Medicine, Published online: 22 June 2020; doi:10.1038/s41436-020-0874-6Genetic testing and results disclosure in diverse populations: what does it take? (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 22, 2020 Category: Genetics & Stem Cells Authors: Carol R. Horowitz Source Type: research

BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome
Genetics in Medicine, Published online: 22 June 2020; doi:10.1038/s41436-020-0867-5BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 22, 2020 Category: Genetics & Stem Cells Authors: Perrine Pennamen Linh Le Ang èle Tingaud-Sequeira Mathieu Fiore Anne Bauters Nguyen Van Duong B éatrice Valentine Coste Jean-Claude Bordet Claudio Plaisant Modibo Diallo Vincent Michaud Aur élien Trimouille Didier Lacombe Eulalie Lasseaux C édric Dele Source Type: research

Genetics and pediatric hospital admissions, 1985 to 2017
Genetics in Medicine, Published online: 19 June 2020; doi:10.1038/s41436-020-0871-9Genetics and pediatric hospital admissions, 1985 to 2017 (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 19, 2020 Category: Genetics & Stem Cells Authors: Stephanie Gjorgioski Jane Halliday Merilyn Riley David J. Amor Martin B. Delatycki Agnes Bankier Source Type: research

Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes
Genetics in Medicine, Published online: 18 June 2020; doi:10.1038/s41436-020-0866-6Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 18, 2020 Category: Genetics & Stem Cells Authors: Willie H. Chang Pouria Mashouri Alexander X. Lozano Brittney Johnstone Mia Husi ć Annie Olry Sylvie Maiella Tugce B. Balci Sarah L. Sawyer Peter N. Robinson Ana Rath Michael Brudno Source Type: research

Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience
Genetics in Medicine, Published online: 18 June 2020; doi:10.1038/s41436-020-0863-9Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 18, 2020 Category: Genetics & Stem Cells Authors: Colin M. E. Halverson Sarah T. Bland Kathleen A. Leppig Maddalena Marasa Melanie Myers Hila Milo Rasouly Julia Wynn Ellen Wright Clayton Source Type: research

Training the next generation of genomic medicine providers: trends in medical education and national assessment
Genetics in Medicine, Published online: 18 June 2020; doi:10.1038/s41436-020-0855-9Training the next generation of genomic medicine providers: trends in medical education and national assessment (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 18, 2020 Category: Genetics & Stem Cells Authors: Shoumita Dasgupta Gerald L. Feldman Cynthia M. Powell Helga V. Toriello Judith Westman William G. Wilson Darrel J. Waggoner Source Type: research

Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice
Genetics in Medicine, Published online: 18 June 2020; doi:10.1038/s41436-020-0870-xCorrection: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 18, 2020 Category: Genetics & Stem Cells Authors: Neeta L. Vora Kelly Gilmore Alicia Brandt Chelsea Gustafson Natasha Strande Lori Ramkissoon Emily Hardisty Ann Katherine M. Foreman Kirk Wilhelmsen Phillips Owen Karen E. Weck Jonathan S. Berg Cynthia M. Powell Bradford C. Powell Source Type: research

What’s in a name? Issues to consider when naming Mendelian disorders
Genetics in Medicine, Published online: 18 June 2020; doi:10.1038/s41436-020-0851-0What’s in a name? Issues to consider when naming Mendelian disorders (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 18, 2020 Category: Genetics & Stem Cells Authors: Sonja A. Rasmussen Ada Hamosh Joanna Amberger Cassandra Arnold Carol Bocchini Marla J. F. O ‘Neill Anne Stumpf Source Type: research

Frequency of genomic secondary findings among 21,915 eMERGE network participants
Genetics in Medicine, Published online: 17 June 2020; doi:10.1038/s41436-020-0810-9Frequency of genomic secondary findings among 21,915 eMERGE network participants (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 17, 2020 Category: Genetics & Stem Cells Authors: Adam S. Gordon Hana Zouk Eric Venner Christine M. Eng Birgit H. Funke Laura M. Amendola David S. Carrell Rex L. Chisholm Wendy K. Chung Joshua C. Denny Alexander Fedotov Hakon Hakonarson Iftikhar J. Kullo Eric B. Larson Magalie S. Leduc Kathleen A. Leppig Source Type: research

Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing
Genetics in Medicine, Published online: 12 June 2020; doi:10.1038/s41436-020-0843-0Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 12, 2020 Category: Genetics & Stem Cells Authors: Michael T. Bashford Scott E. Hickey Cynthia J. Curry Helga V. Toriello Source Type: research

The limited use of US residual newborn screening dried bloodspots for health disparity research
Genetics in Medicine, Published online: 12 June 2020; doi:10.1038/s41436-020-0858-6The limited use of US residual newborn screening dried bloodspots for health disparity research (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 12, 2020 Category: Genetics & Stem Cells Authors: Naomi O. Riches Erin P. Johnson Caren J. Frost Aaron J. Goldenberg Erin Rothwell Source Type: research

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Genetics in Medicine, Published online: 11 June 2020; doi:10.1038/s41436-020-0840-3Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 11, 2020 Category: Genetics & Stem Cells Authors: Ana T öpf Katherine Johnson Adam Bates Lauren Phillips Katherine R. Chao Eleina M. England Kristen M. Laricchia Thomas Mullen Elise Valkanas Liwen Xu Marta Bertoli Alison Blain Ana B. Casas ús Jennifer Duff Magdalena Mroczek Sabine Specht Monkol Lek Mon Source Type: research

Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots
Genetics in Medicine, Published online: 10 June 2020; doi:10.1038/s41436-020-0846-xToward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 10, 2020 Category: Genetics & Stem Cells Authors: Xinying Hong Jessica Daiker Martin Sadilek Andrea E. DeBarber John Chiang Jie Duan Albert H. Bootsma Hidde H. Huidekoper Fr édéric M. Vaz Michael H. Gelb Source Type: research

Cardiac involvement in classical or hypermobile Ehlers–Danlos syndrome is uncommon
Genetics in Medicine, Published online: 09 June 2020; doi:10.1038/s41436-020-0856-8Cardiac involvement in classical or hypermobile Ehlers–Danlos syndrome is uncommon (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 9, 2020 Category: Genetics & Stem Cells Authors: Sharon L. Paige Kirstie M. Lechich Elif Seda Selamet Tierney R. Thomas Collins II Source Type: research

Addendum: Statement on nutritional supplements and piracetam for children with Down syndrome
Genetics in Medicine, Published online: 08 June 2020; doi:10.1038/s41436-020-0847-9Addendum: Statement on nutritional supplements and piracetam for children with Down syndrome (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 8, 2020 Category: Genetics & Stem Cells Authors: Manisha Balwani Source Type: research

Societal considerations in host genome testing for COVID-19
Genetics in Medicine, Published online: 08 June 2020; doi:10.1038/s41436-020-0861-ySocietal considerations in host genome testing for COVID-19 (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 8, 2020 Category: Genetics & Stem Cells Authors: Richard Milne Source Type: research

Addendum: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
Genetics in Medicine, Published online: 08 June 2020; doi:10.1038/s41436-020-0848-8Addendum: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 8, 2020 Category: Genetics & Stem Cells Authors: Melanie Manning Louanne Hudgins Source Type: research