Uniparental disomy in a population of 32,067 clinical exome trios
Genetics in Medicine, Published online: 25 January 2021; doi:10.1038/s41436-020-01092-8Uniparental disomy in a population of 32,067 clinical exome trios (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 25, 2021 Category: Genetics & Stem Cells Authors: Julie Scuffins Jennifer Keller-Ramey Lindsay Dyer Ganka Douglas Rebecca Torene Vladimir Gainullin Jane Juusola Jeanne Meck Kyle Retterer Source Type: research
Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome
Genetics in Medicine, Published online: 25 January 2021; doi:10.1038/s41436-020-01078-6Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 25, 2021 Category: Genetics & Stem Cells Authors: Pauline Arnaud H élène Morel Olivier Milleron Laurent Gouya Christine Francannet Antoine Da Costa Carine Le Goff Guillaume Jondeau Catherine Boileau Nadine Hanna Source Type: research
News
Genetics in Medicine, Published online: 25 January 2021; doi:10.1038/s41436-021-01103-2News (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 25, 2021 Category: Genetics & Stem Cells Source Type: research
In This Issue
Genetics in Medicine, Published online: 25 January 2021; doi:10.1038/s41436-021-01102-3In This Issue (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 25, 2021 Category: Genetics & Stem Cells Source Type: research
Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics
Genetics in Medicine, Published online: 20 January 2021; doi:10.1038/s41436-020-01081-xOutcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 20, 2021 Category: Genetics & Stem Cells Authors: Hadley Stevens Smith Rachel Franciskovich Andrea M. Lewis Amanda Gerard Rebecca O. Littlejohn Kimberly Nugent Janah Rodriguez Haley Streff Source Type: research
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
Genetics in Medicine, Published online: 20 January 2021; doi:10.1038/s41436-020-01076-8Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 20, 2021 Category: Genetics & Stem Cells Authors: Alison M. Muir Jennifer F. Gardner Richard H. van Jaarsveld Iris M. de Lange Jasper J. van der Smagt Golder N. Wilson Holly Dubbs Ethan M. Goldberg Lia Zitano Caleb Bupp Jose Martinez Myriam Srour Andrea Accogli Afnan Alhakeem Meira Meltzer Andrea Gropman Source Type: research
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy
Genetics in Medicine, Published online: 20 January 2021; doi:10.1038/s41436-020-01071-zA pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 20, 2021 Category: Genetics & Stem Cells Authors: Min Ni Bushra Afroze Chao Xing Chunxiao Pan Yanqiu Shao Ling Cai Brandi L. Cantarel Jimin Pei Nick V. Grishin Stacy Hewson Devon Knight Sonal Mahida Donnice Michel Mark Tarnopolsky Annapurna Poduri Alexander Rotenberg Neal Sondheimer Ralph J. DeBerardinis Source Type: research
The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disorders
Genetics in Medicine, Published online: 20 January 2021; doi:10.1038/s41436-020-01085-7The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disorders (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 20, 2021 Category: Genetics & Stem Cells Authors: Avi Fellner Noa Ruhrman-Shahar Naama Orenstein Gabriel Lidzbarsky Alan R. Shuldiner Claudia Gonzaga-Jauregui Hadar Brown-Shalev Ofir Hagari-Bechar Lily Bazak Lina Basel-Salmon Source Type: research
Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation
Genetics in Medicine, Published online: 20 January 2021; doi:10.1038/s41436-020-01089-3Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 20, 2021 Category: Genetics & Stem Cells Authors: Noam Domniz Liat Ries Levavi Michal Berkenstadt Elon Pras Yoram Cohen Hila Raanani Dana Brabbing Goldstein Yuval Yaron Shai Elizur Shay Ben-Shachar Source Type: research
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
Genetics in Medicine, Published online: 13 January 2021; doi:10.1038/s41436-020-01052-2Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 13, 2021 Category: Genetics & Stem Cells Authors: Denise Horn Elisa Fern ández-Núñez Ricardo Gomez-Carmona Ana Rivera-Barahona Julian Nevado Sarina Schwartzmann Nadja Ehmke Pablo Lapunzina Ghada A. Otaify Samia Temtamy Mona Aglan Felix Boschann Victor L. Ruiz-Perez Source Type: research
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants
Genetics in Medicine, Published online: 13 January 2021; doi:10.1038/s41436-020-01051-3Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 13, 2021 Category: Genetics & Stem Cells Authors: Rebecca A. Rojas Anna A. Kutateladze Lacey Plummer Maria Stamou David L. Keefe Jr Kathyrn B. Salnikov Angela Delaney Janet E. Hall Ruslan Sadreyev Fei Ji Eric Fliers Katarina Gambosova Richard Quinton Paulina M. Merino Veronica Mericq Stephanie B. Seminar Source Type: research
Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening
Genetics in Medicine, Published online: 13 January 2021; doi:10.1038/s41436-020-01058-wMethods and feasibility study for exome sequencing as a universal second-tier test in newborn screening (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 13, 2021 Category: Genetics & Stem Cells Authors: Nicole Ruiz-Schultz David Sant Stevie Norcross Warunee Dansithong Kim Hart Bryce Asay Jordan Little Krystal Chung Kelly F. Oakeson Erin L. Young Karen Eilbeck Andreas Rohrwasser Source Type: research
Newborn bloodspot screening in the time of COVID-19
Genetics in Medicine, Published online: 13 January 2021; doi:10.1038/s41436-020-01086-6Newborn bloodspot screening in the time of COVID-19 (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 13, 2021 Category: Genetics & Stem Cells Authors: Ronda F. Greaves James Pitt Candice McGregor Meaghan Wall John Christodoulou Source Type: research
Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes
Genetics in Medicine, Published online: 13 January 2021; doi:10.1038/s41436-020-01067-9Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 13, 2021 Category: Genetics & Stem Cells Authors: Leandra K. Tolusso Paige Hazelton Beatrix Wong Daniel T. Swarr Source Type: research
Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma
Genetics in Medicine, Published online: 13 January 2021; doi:10.1038/s41436-020-01062-0Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 13, 2021 Category: Genetics & Stem Cells Authors: Mar ía Santos Javier Lanillos Juan Mar ía Roldan-Romero Eduardo Caleiras Cristina Montero-Conde Alberto Casc ón Miguel Angel Climent Georgia Anguera Susana Hernando Nuria La ínez Mercedes Robledo Luis Robles Guillermo de Velasco Jes ús García-Donas Source Type: research
