Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders,medRxiv - Genetic and Genomic Medicine

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Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
medRxiv - Genetic and Genomic Medicine Pub Date : 2021-02-22 , DOI: 10.1101/2020.09.24.20196097
Ilaria Mannucci , Nan Cher Yeo , Hannes Huber , Jaclyn Murry , Jeff Abramson , Thorsten Althoff , Siddharth Banka , Gareth Baynam , David Bearden , Ana Beleza , Paul Benke , Siren Berland , Tatjana Bierhals , Frederic Bilan , Laurence Bindoff , Gewir Julius Braathen , Oeyvind Loevold Busk , Jirat Chenbhanich , Nghi Dang , Jonas Denecke , Luis Escobar , Caroline Estes , Julie Fleischer , Daniel Groepper , Charlotte Haaxma , Maja Hempel , Yolanda Holler-Managan , Gunnar Houge , Adam Jackson , Laura Kellogg , Boris Keren , Catherine Kiraly-Borri , Cornelia Kraus , Christian Kubisch , Gwenael Le Guyader , Ulf Wike Ljungblad , Leslie Manace Brenman , Julian Martinez-Agosto , Matthew Might , David Miller , Kelly Minks , Billur Moghaddam , Caroline Caroline , Stanley Nelson , Trine Prescott , Farrah Rajabi , Hanitra Randrianaivo , Simone Reiter , Janneke Schuurs-Hoeijmakers , Perry Shieh , Anne Slavotinek , Sarah Smithson , Alexander Stegmann , Kinga Tomczak , Kristian Tveten , Jordan Whitlock , Christiane Zweier , Kirsty McWalter , Jane Juusola , Fabiola Quintero-Rivera , Utz Fischer , Hans-Juergen Kreienkamp , Davor Lessel

Background We aimed to define the clinical and mutational spectrum, and to provide novel molecular insights into DHX30-associated neurodevelopmental disorder.

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