congenital

Complete loss of the X-linked gene CASK causes severe cerebellar degeneration
Paras A Patel, Julia V Hegert, Ingrid Cristian, Alicia Kerr, Leslie E W LaConte, Michael A Fox, Sarika Srivastava, Konark Mukherjee

Journal of Medical Genetics Nov 2022, 59 (11) 1044-1057; DOI: 10.1136/jmedgenet-2021-108115
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome
Marco Angelozzi, Anirudha Karvande, Arnaud N Molin, Alyssa L Ritter, Jacqueline M M Leonard, Juliann M Savatt, Kristen Douglass, Scott M Myers, Mina Grippa, Dara Tolchin, Elaine Zackai, Sarah Donoghue, Anna C E Hurst, Maria Descartes, Kirstin Smith, Danita Velasco, Andrew Schmanski, Amy Crunk, Mari J Tokita, Iris M de Lange, Koen van Gassen, Hannah Robinson, Katie Guegan, Mohnish Suri, Chirag Patel, Marie Bournez, Laurence Faivre, Frédéric Tran-Mau-Them, Janice Baker, Noelle Fabie, K Weaver, Amelle Shillington, Robert J Hopkin, Daniela Q C.M Barge-Schaapveld, Claudia AL Ruivenkamp, Regina Bökenkamp, Samantha Vergano, Maria Noelia Seco Moro, Aranzazu Díaz de Bustamante, Vinod K Misra, Kelly Kennelly, Caleb Rogers, Jennifer Friedman, Kristen M Wigby, Jerica Lenberg, Claudio Graziano, Rebecca C Ahrens-Nicklas, Veronique Lefebvre

Journal of Medical Genetics Nov 2022, 59 (11) 1058-1068; DOI: 10.1136/jmedgenet-2021-108375
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study
Kristoffer Björkman, John Vissing, Elsebet Østergaard, Laurence A Bindoff, Irenaeus F M de Coo, Martin Engvall, Omar Hikmat, Pirjo Isohanni, Gittan Kollberg, Christopher Lindberg, Kari Majamaa, Karin Naess, Johanna Uusimaa, Mar Tulinius, Niklas Darin

Journal of Medical Genetics Jan 2023, 60 (1) 65-73; DOI: 10.1136/jmedgenet-2021-108006
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists
Joanna Lazier, Taila Hartley, Jo-Ann Brock, Oana Caluseriu, David Chitayat, Anne-Marie Laberge, Sylvie Langlois, Julie Lauzon, Tanya N Nelson, Jillian Parboosingh, Dimitri J Stavropoulos, Kym Boycott, Christine M Armour

Journal of Medical Genetics Oct 2022, 59 (10) 931-937; DOI: 10.1136/jmedgenet-2021-107897
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
Valentina Serpieri, Fulvio D’Abrusco, Jennifer C Dempsey, Yong-Han Hank Cheng, Filippo Arrigoni, Janice Baker, Roberta Battini, Enrico Silvio Bertini, Renato Borgatti, Angela K Christman, Cynthia Curry, Stefano D'Arrigo, Joel Fluss, Michael Freilinger, Simone Gana, Gisele E Ishak, Vincenzo Leuzzi, Hailey Loucks, Filippo Manti, Nancy Mendelsohn, Laura Merlini, Caitlin V Miller, Ansar Muhammad, Sara Nuovo, Romina Romaniello, Wolfgang Schmidt, Sabrina Signorini, Sabrina Siliquini, Krzysztof Szczałuba, Gessica Vasco, Meredith Wilson, Ginevra Zanni, Eugen Boltshauser, Dan Doherty, Enza Maria Valente

Journal of Medical Genetics Sep 2022, 59 (9) 888-894; DOI: 10.1136/jmedgenet-2021-108114
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects
Yoav Bolkier, Ortal Barel, Dina Marek-Yagel, Danit Atias-Varon, Maayan Kagan, Amir Vardi, David Mishali, Uriel Katz, Yishay Salem, Tal Tirosh-Wagner, Jeffrey M Jacobson, Annick Raas-Rothschild, Odelia Chorin, Aviva Eliyahu, Yarden Sarouf, Omer Shlomovitz, Alvit Veber, Nechama Shalva, Elisheva Javasky, Yishay Ben Moshe, Orna Staretz-Chacham, Gideon Rechavi, Shrikant Mane, Yair Anikster, Asaf Vivante, Ben Pode-Shakked

Journal of Medical Genetics Jul 2022, 59 (7) 691-696; DOI: 10.1136/jmedgenet-2021-107775
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive
Guido Vogt, Sarah Verheyen, Sarina Schwartzmann, Nadja Ehmke, Cornelia Potratz, Anette Schwerin-Nagel, Barbara Plecko, Manuel Holtgrewe, Dominik Seelow, Jasmin Blatterer, Michael R Speicher, Uwe Kornak, Denise Horn, Stefan Mundlos, Björn Fischer-Zirnsak, Felix Boschann

Journal of Medical Genetics Jul 2022, 59 (7) 662-668; DOI: 10.1136/jmedgenet-2021-107843
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component
Núria Catasús, Belen Garcia, Iván Galván-Femenía, Adrià Plana, Alejandro Negro, Inma Rosas, Andrea Ros, Emilio Amilibia, Juan Luis Becerra, Cristina Hostalot, Francesc Rocaribas, Isabel Bielsa, Conxi Lazaro Garcia, Rafael de Cid, Eduard Serra, Ignacio Blanco, Elisabeth Castellanos

Journal of Medical Genetics Jul 2022, 59 (7) 678-686; DOI: 10.1136/jmedgenet-2020-107548
Adult phenotype of KCNQ2 encephalopathy
Stephanie Boets, Katrine M Johannesen, Anne Destree, Filippo Manti, Georgia Ramantani, Gaetan Lesca, Laurent Vercueil, Mary Kay Koenig, Pasquale Striano, Rikke Steensbjerre Møller, Edward Cooper, Sarah Weckhuysen

Journal of Medical Genetics Jun 2022, 59 (6) 528-535; DOI: 10.1136/jmedgenet-2020-107449
New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements
Vanessa Luiza Romanelli Tavares, Sofia Ligia Guimarães-Ramos, Yan Zhou, Cibele Masotti, Suzana Ezquina, Danielle de Paula Moreira, Henk Buermans, Renato S Freitas, Johan T Den Dunnen, Stephen R F Twigg, Maria Rita Passos-Bueno

Journal of Medical Genetics Sep 2022, 59 (9) 895-905; DOI: 10.1136/jmedgenet-2021-107825

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