Special collections

Special collections

DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
Jonathan Marquez, Nina Mann, Kathya Arana, Engin Deniz, Weizhen Ji, Monica Konstantino, Emily K Mis, Charu Deshpande, Lauren Jeffries, Julie McGlynn, Hannah Hugo, Eugen Widmeier, Martin Konrad, Velibor Tasic, Raffaella Morotti, Julia Baptista, Sian Ellard, Saquib Ali Lakhani, Friedhelm Hildebrandt, Mustafa K Khokha

Journal of Medical Genetics Jul 2021, 58 (7) 453-464; DOI: 10.1136/jmedgenet-2019-106805
CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression
Xuanye Cao, Annika Wolf, Sung-Eun Kim, Robert M. Cabrera, Bogdan J. Wlodarczyk, Huiping Zhu, Margaret Parker, Ying Lin, John W. Steele, Xiao Han, Vincent Th Ramaekers, Robert Steinfeld, Richard H. Finnell, Yunping Lei

Journal of Medical Genetics Jul 2021, 58 (7) 484-494; DOI: 10.1136/jmedgenet-2020-106987
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy
Reza Maroofian, Jiří Sedmík, Neda Mazaheri, Marcello Scala, Maha S Zaki, Liam P Keegan, Reza Azizimalamiri, Mahmoud Issa, Gholamreza Shariati, Alireza Sedaghat, Christian Beetz, Peter Bauer, Hamid Galehdari, Mary A O’Connell, Henry Houlden

Journal of Medical Genetics Jul 2021, 58 (7) 495-504; DOI: 10.1136/jmedgenet-2020-107048
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

Journal of Medical Genetics Jul 2021, jmedgenet-2021-107747; DOI: 10.1136/jmedgenet-2021-107747
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

Journal of Medical Genetics May 2021, jmedgenet-2020-107518; DOI: 10.1136/jmedgenet-2020-107518
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

Journal of Medical Genetics Jun 2021, jmedgenet-2021-107769; DOI: 10.1136/jmedgenet-2021-107769
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 Jun 2021, jmedgenet-2021-107843; DOI: 10.1136/jmedgenet-2021-107843
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes
Martijn Baas, Elise Bette Burger, Ans MW van den Ouweland, Steven ER Hovius, Annelies de Klein, Christianne A van Nieuwenhoven, Robert Jan H Galjaard

Journal of Medical Genetics Jun 2021, 58 (6) 362-368; DOI: 10.1136/jmedgenet-2020-106948
Haploinsufficiency of the NF1 gene is associated with protection against diabetes
Roope A Kallionpää, Sirkku Peltonen, Jussi Leppävirta, Minna Pöyhönen, Kari Auranen, Hannu Järveläinen, Juha Peltonen

Journal of Medical Genetics Jun 2021, 58 (6) 378-384; DOI: 10.1136/jmedgenet-2020-107062
Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits
Matteo Di Giovannantonio, Benjamin HL Harris, Ping Zhang, Isaac Kitchen-Smith, Lingyun Xiong, Natasha Sahgal, Giovanni Stracquadanio, Marsha Wallace, Sarah Blagden, Simon Lord, David Harris, Adrian H.L. Harris, Francesca M. Buffa, Gareth L. Bond

Journal of Medical Genetics Jun 2021, 58 (6) 392-399; DOI: 10.1136/jmedgenet-2019-106799

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