Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis

Maria J Nabais Sá, Kerry A Miller, Mary McQuaid, Nils Koelling, Andrew O M Wilkie, Hugo Wurtele, Arjan P M de Brouwer, Jorge Oliveira

10.1136/jmedgenet-2020-107572

August 5, 2021

Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotype

Riku Katainen, Iikki Donner, Maritta Räisänen, Davide Berta, Anna Kuosmanen, Eevi Kaasinen, Marja Hietala, Lauri A Aaltonen

10.1136/jmedgenet-2021-107747

July 19, 2021

Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability

Ethiraj Ravindran, Cynthia Gutierrez de Velazco, Ali Ghazanfar, Nadine Kraemer, Sami Zaqout, Abdul Waheed, Mohsan Hanif, Sadia Mughal, Alessandro Prigione, Na Li, Xiang Fang, Hao Hu, Angela M Kaindl

10.1136/jmedgenet-2020-107518

May 31, 2021

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

10.1136/jmedgenet-2021-107809

April 28, 2021

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state

Gökhan Yigit, Ruth Sheffer, Muhannad Daana, Yun Li, Emrah Kaygusuz, Hagar Mor-Shakad, Janine Altmüller, Peter Nürnberg, Liza Douiev, Silke Kaulfuss, Peter Burfeind, Bernd Wollnik, Knut Brockmann

10.1136/jmedgenet-2021-107769

June 25, 2021

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

10.1136/jmedgenet-2021-107843

June 18, 2021

Assessing performance of pathogenicity predictors using clinically relevant variant datasets

Adam C Gunning, Verity Fryer, James Fasham, Andrew H Crosby, Sian Ellard, Emma L Baple, Caroline F Wright

10.1136/jmedgenet-2020-107003

August 25, 2020

SETD1B-associated neurodevelopmental disorder

Alexandra Roston, Dan Evans, Harinder Gill, Margaret McKinnon, Bertrand Isidor, Benjamin Cogné, Jill Mwenifumbo, Clara van Karnebeek, Jianghong An, Steven J M Jones, Matthew Farrer, Michelle Demos, Mary Connolly, William T Gibson, CAUSES Study, CAUSES Study, Shelin Adam, Nick Dragojlovic, Christèle du Souich, Alison M Elliott, Anna Lehman, Larry Lynd, Jill Mwenifumbo, Tanya N Nelson, Clara van Karnebeek, Jan M Friedman, EPGEN Study, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Sarah E Buerki, Tara Candido, Patrice Eydoux, Daniel M Evans, William T Gibson, Gabriella Horvath, Linda Huh, Tanya N Nelson, Graham Sinclair, Tamsin Tarling, Eric B Toyota, Katelin N Townsend, Margot I Van Allen, Clara van Karnebeek, Suzanne Vercauteren

10.1136/jmedgenet-2019-106756

June 16, 2020

Editor's choice

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

10.1136/jmedgenet-2020-107237

April 5, 2021

Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency

Adela Chirita-Emandi, Nicoleta Andreescu, Cristina Popa, Alexandra Mihailescu, Anca-Lelia Riza, Razvan Plesea, Mihai Ioana, Smaranda Arghirescu, Maria Puiu

10.1136/jmedgenet-2020-107198

August 25, 2020