Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome
Genetics in Medicine, Published online: 02 February 2021; doi:10.1038/s41436-021-01106-zDisrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 2, 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
Evaluating the molecular diagnostic yield of joint genotyping–based approach for detecting rare germline pathogenic and putative loss-of-function variants
Genetics in Medicine, Published online: 02 February 2021; doi:10.1038/s41436-020-01074-wEvaluating the molecular diagnostic yield of joint genotyping–based approach for detecting rare germline pathogenic and putative loss-of-function variants (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 2, 2021 Category: Genetics & Stem Cells Authors: Sabrina Y. Camp Eric Kofman Brendan Reardon Nathanael D. Moore Abdullah M. Al-Rubaish Mohammed Aljumaan Amein K. Al-Ali Eliezer M. Van Allen Amaro Taylor-Weiner Saud H. AlDubayan Source Type: research
GUÍA: a digital platform to facilitate result disclosure in genetic counseling
Genetics in Medicine, Published online: 02 February 2021; doi:10.1038/s41436-020-01063-zGUÍA: a digital platform to facilitate result disclosure in genetic counseling (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 2, 2021 Category: Genetics & Stem Cells Authors: Sabrina A. Suckiel Jaqueline A. Odgis Katie M. Gallagher Jessica E. Rodriguez Dana Watnick Gabrielle Bertier Monisha Sebastin Nicole Yelton Estefany Maria Jessenia Lopez Michelle Ramos Nicole Kelly Nehama Teitelman Faygel Beren Tom Kaszemacher Kojo Davis Source Type: research
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
Genetics in Medicine, Published online: 02 February 2021; doi:10.1038/s41436-021-01097-xA recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 2, 2021 Category: Genetics & Stem Cells Authors: Diane D. Shao Rachel Straussberg Hind Ahmed Amjad Khan Songhai Tian R. Sean Hill Richard S. Smith Amar J. Majmundar Najim Ameziane Jennifer E. Neil Edward Yang Amal Al Tenaiji Saumya S. Jamuar Thorsten M. Schlaeger Muna Al-Saffar Iris Hovel Aisha Al-Shams Source Type: research
Focused Revision: ACMG practice resource: Genetic evaluation of short stature
Genetics in Medicine, Published online: 29 January 2021; doi:10.1038/s41436-020-01046-0Focused Revision: ACMG practice resource: Genetic evaluation of short stature (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 29, 2021 Category: Genetics & Stem Cells Authors: Cassie S. Mintz Laurie H. Seaver Mira Irons Adda Grimberg Reymundo Lozano Source Type: research
Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes
Genetics in Medicine, Published online: 26 January 2021; doi:10.1038/s41436-020-01039-zDeep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 26, 2021 Category: Genetics & Stem Cells Authors: Marie Hully Tommaso Lo Barco Anna Kaminska Giulia Barcia Claude Cances Cyril Mignot Isabelle Desguerre Nicolas Garcelon Edor Kabashi Rima Nabbout Source Type: research
Cystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth
Genetics in Medicine, Published online: 26 January 2021; doi:10.1038/s41436-020-01073-xCystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 26, 2021 Category: Genetics & Stem Cells Authors: Yu-Chung Lin Katherine Keenan Jiafen Gong Naim Panjwani Julie Avolio Fan Lin Damien Adam Paula Barrett St éphanie Bégin Yves Berthiaume Lara Bilodeau Candice Bjornson Janna Brusky Caroline Burgess Mark Chilvers Raquel Consunji-Araneta Guillaume C ôté- Source Type: research
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies
Genetics in Medicine, Published online: 26 January 2021; doi:10.1038/s41436-020-01049-xSystematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 26, 2021 Category: Genetics & Stem Cells Authors: Francesco Mazzarotto Megan H. Hawley Matteo Beltrami Leander Beekman Antonio de Marvao Kathryn A. McGurk Ben Statton Beatrice Boschi Francesca Girolami Angharad M. Roberts Elisabeth M. Lodder Mona Allouba Soha Romeih Yasmine Aguib A. John Baksi Antonis Pa Source Type: research
Increasing access to individualized medicine: a matched-cohort study examining Latino participant experiences of genomic screening
Genetics in Medicine, Published online: 26 January 2021; doi:10.1038/s41436-020-01079-5Increasing access to individualized medicine: a matched-cohort study examining Latino participant experiences of genomic screening (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 26, 2021 Category: Genetics & Stem Cells Authors: Joel E. Pacyna Gabriel Q. Shaibi Alex Lee Jamie O Byrne Idali Cuellar Erica J. Sutton Valentina Hernandez Noralane M. Lindor Davinder Singh Iftikhar J. Kullo Richard R. Sharp Source Type: research
Development and implementation of an electronic medical record module to track genetic testing results
Genetics in Medicine, Published online: 26 January 2021; doi:10.1038/s41436-020-01057-xDevelopment and implementation of an electronic medical record module to track genetic testing results (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 26, 2021 Category: Genetics & Stem Cells Authors: Anthony Scott Donna M. Martin Source Type: research
Deletion of the NKG2C receptor encoding KLRC2 gene and HLA-E variants are risk factors for severe COVID-19
Genetics in Medicine, Published online: 26 January 2021; doi:10.1038/s41436-020-01077-7Deletion of the NKG2C receptor encoding KLRC2 gene and HLA-E variants are risk factors for severe COVID-19 (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 26, 2021 Category: Genetics & Stem Cells Authors: Hannes Vietzen Alexander Zoufaly Marianna Traugott Judith Aberle Stephan W. Aberle Elisabeth Puchhammer-St öckl Source Type: research
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction
Genetics in Medicine, Published online: 25 January 2021; doi:10.1038/s41436-020-01080-yTransforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 25, 2021 Category: Genetics & Stem Cells Authors: Cindy Li Ankit K. Desai Punita Gupta Katherine Dempsey Vikas Bhambhani Robert J. Hopkin Can Ficicioglu Pranoot Tanpaiboon William J. Craigen Amy S. Rosenberg Priya S. Kishnani Source Type: research
Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism
Genetics in Medicine, Published online: 25 January 2021; doi:10.1038/s41436-020-01087-5Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 25, 2021 Category: Genetics & Stem Cells Authors: Leman Damla Kotan Gaetan Ternier Aydilek Dagdeviren Cakir Hamdi Cihan Emeksiz Ihsan Turan Gaspard Delpouve Asli Derya Kardelen Bahar Ozcabi Emregul Isik Eda Mengen Esra Deniz P. Cakir Aysegul Yuksel Sebahat Yilmaz Agladioglu Semine Ozdemir Dilek Olcay Evl Source Type: research
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
Genetics in Medicine, Published online: 25 January 2021; doi:10.1038/s41436-020-01091-9CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 25, 2021 Category: Genetics & Stem Cells Authors: Yuri A. Zarate Tomoko Uehara Kota Abe Masayuki Oginuma Sora Harako Shizuka Ishitani Anna-Elina Lehesjoki Tatjana Bierhals Katja Kloth Nadja Ehmke Denise Horn Manuel Holtgrewe Katherine Anderson David Viskochil Courtney L. Edgar-Zarate Maria J. Guillen Sac Source Type: research
Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders
Genetics in Medicine, Published online: 25 January 2021; doi:10.1038/s41436-020-01070-0Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 25, 2021 Category: Genetics & Stem Cells Authors: Deborah Marsden Camille L. Bedrosian Jerry Vockley Source Type: research
