hereditary

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
Sunayna Best, Jenny Lord, Matthew Roche, Christopher M Watson, James A Poulter, Roel P J Bevers, Alex Stuckey, Katarzyna Szymanska, Jamie M Ellingford, Jenny Carmichael, Helen Brittain, Carmel Toomes, Chris Inglehearn, Colin A Johnson, Gabrielle Wheway

Journal of Medical Genetics Aug 2022, 59 (8) 737-747; DOI: 10.1136/jmedgenet-2021-108065
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly
Ichrak Drissi, Emily Fletcher, Ranad Shaheen, Michael Nahorski, Amal M Alhashem, Steve Lisgo, Alberto Fernández-Jaén, Katherine Schon, Kalthoum Tlili-Graiess, Sarah F Smithson, Susan Lindsay, Hayley J Sharpe, Fowzan S Alkuraya, Geoff Woods

Journal of Medical Genetics Apr 2022, 59 (4) 358-365; DOI: 10.1136/jmedgenet-2020-107237
Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel
Wu Jiang, Lin Li, Chuan-Feng Ke, Wei Wang, Bin-Yi Xiao, Ling-Heng Kong, Jing-Hua Tang, Yuan Li, Xiao-Dan Wu, Ying Hu, Wei-Hua Guo, Si-Zhen Wang, De-Sen Wan, Rui-Hua Xu, Zhi-Zhong Pan, Pei-Rong Ding

Journal of Medical Genetics Apr 2022, 59 (4) 370-376; DOI: 10.1136/jmedgenet-2020-107230
Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study
Sara Nuovo, Alessia Micalizzi, Romina Romaniello, Filippo Arrigoni, Monia Ginevrino, Antonella Casella, Valentina Serpieri, Stefano D'Arrigo, Marilena Briguglio, Grazia Gabriella Salerno, Sara Rossato, Stefano Sartori, Vincenzo Leuzzi, Roberta Battini, Bruria Ben-Zeev, Claudio Graziano, Marisol Mirabelli Badenier, Vesna Brankovic, Nardo Nardocci, Ronen Spiegel, Danijela Petković Ramadža, Giovanni Vento, Itxaso Marti, Alessandro Simonati, Savina Dipresa, Elena Freri, Tommaso Mazza, Maria Teresa Bassi, Luca Bosco, Lorena Travaglini, Ginevra Zanni, Enrico Silvio Bertini, Nicola Vanacore, Renato Borgatti, Enza Maria Valente

Journal of Medical Genetics Apr 2022, 59 (4) 399-409; DOI: 10.1136/jmedgenet-2020-107497
Genotype-phenotype correlation in clubfoot (talipes equinovarus)
Ewa Hordyjewska-Kowalczyk, Karol Nowosad, Aleksander Jamsheer, Przemko Tylzanowski

Journal of Medical Genetics Mar 2022, 59 (3) 209-219; DOI: 10.1136/jmedgenet-2021-108040
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH
Tiana M Scott, Ian M Campbell, Andres Hernandez-Garcia, Seema R Lalani, Pengfei Liu, Chad A Shaw, Jill A Rosenfeld, Daryl A Scott

Journal of Medical Genetics Mar 2022, 59 (3) 270-278; DOI: 10.1136/jmedgenet-2020-107317
DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation
Lev Prasov, Brenda L Bohnsack, Antonette S El Husny, Lam C Tsoi, Bin Guan, J Michelle Kahlenberg, Edmundo Almeida, Haitao Wang, Edward W Cowen, Adriana A De Jesus, Priyam Jani, Allison C Billi, Sayoko E Moroi, Rachael Wasikowski, Izabela Almeida, Luciana N Almeida, Fernando Kok, Sarah J Garnai, Shahzad I Mian, Marcus Y Chen, Blake M Warner, Carlos R Ferreira, Raphaela Goldbach-Mansky, Sun Hur, Brian P Brooks, Julia E Richards, Robert B Hufnagel, Johann E Gudjonsson

Journal of Medical Genetics Mar 2022, 59 (3) 294-304; DOI: 10.1136/jmedgenet-2020-107447
Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability
Mbarka Bchetnia, Luigi Bouchard, Jean Mathieu, Philippe M Campeau, Charles Morin, Diane Brisson, Anne-Marie Laberge, Hélène Vézina, Daniel Gaudet, Catherine Laprise

Journal of Medical Genetics Oct 2021, 58 (10) 653-665; DOI: 10.1136/jmedgenet-2021-107809

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