human genetics

Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2
D Gareth Evans, George J Burghel, Sacha J Howell, Sarah Pugh, Claire Forde, Anthony Howell, Fiona Lalloo, Emma Roisin Woodward

Journal of Medical Genetics Apr 2024, jmg-2023-109826; DOI: 10.1136/jmg-2023-109826
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
Umut Altunoglu, Adrian Palencia-Campos, Nilay Güneş, Gozde Tutku Turgut, Julian Nevado, Pablo Lapunzina, Maria Valencia, Asier Iturrate, Ghada Otaify, Rasha Elhossini, Adel Ashour, Asmaa K. Amin, Rania F Elnahas, Elisa Fernandez-Nuñez, Carmen-Lisset Flores, Pedro Arias, Jair Tenorio, Carlos Israel Chamorro Fernández, Yeliz Güven, Elif Özsu, Beray Selver Eklioğlu, Marisol Ibarra-Ramirez, Birgitte Rode Diness, Birute Burnyte, Houda Ajmi, Zafer Yüksel, Ruken Yıldırım, Edip Ünal, Ebtesam Abdalla, Mona Aglan, Hulya Kayserili, Beyhan Tuysuz, Victor Ruiz-Pérez

Journal of Medical Genetics Mar 2024, jmg-2023-109546; DOI: 10.1136/jmg-2023-109546
Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice
Melody Grace Redman, Rachel Helen Horton, Helena Carley, Anneke Lucassen

Journal of Medical Genetics Apr 2024, 61 (4) 313-318; DOI: 10.1136/jmg-2023-109370
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis
Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart Loeys

Journal of Medical Genetics Apr 2024, 61 (4) 363-368; DOI: 10.1136/jmg-2023-109151
Titin copy number variations associated with dominant inherited phenotypes
Aurélien Perrin, Corinne Métay, Marco Savarese, Rabah Ben Yaou, German Demidov, Isabelle Nelson, Guilhem Solé, Yann Péréon, Enrico Silvio Bertini, Fabiana Fattori, Adele D'Amico, Federica Ricci, Mira Ginsberg, Andreea Seferian, Odile Boespflug-Tanguy, Laurent Servais, Françoise Chapon, Emmeline Lagrange, Karen Gaudon, Adrien Bloch, Robin Ghanem, Lucie Guyant-Maréchal, Mridul Johari, Charles Van Goethem, Michel Fardeau, Raul Juntas Morales, Casie A Genetti, Minttu Marttila, Michel Koenig, Alan H Beggs, Bjarne Udd, Gisèle Bonne, Mireille Cossée

Journal of Medical Genetics Apr 2024, 61 (4) 369-377; DOI: 10.1136/jmg-2023-109473
De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops
Maayke A de Koning, Paula A Pimienta Ramirez, Monique C Haak, Xiao Han, Martina HA Ruiterkamp-Versteeg, Nicole de Leeuw, Ulrich A Schatz, Moneef Shoukier, Esther Rieger-Fackeldey, Javier U Ortiz, Sjoerd G van Duinen, Willemijn M Klein, Ruben S G M Witlox, Richard H Finnell, Gijs W E Santen, Yunping Lei, Manon Suerink

Journal of Medical Genetics Jan 2024, jmg-2023-109698; DOI: 10.1136/jmg-2023-109698
Variant reclassification and clinical implications
Nicola Walsh, Aislinn Cooper, Adrian Dockery, James J O'Byrne

Journal of Medical Genetics Mar 2024, 61 (3) 207-211; DOI: 10.1136/jmg-2023-109488
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature
Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, Joseph C Roney, Jenny Serra-Vinardell, Prashant Sharma, David R Adams, John I Gallin, Steven M Holland, Sergio D Rosenzweig, Jose Barbot, Carla Ciccone, Marjan Huizing, Camilo Toro, William A Gahl, Wendy J Introne, May Christine V Malicdan

Journal of Medical Genetics Mar 2024, 61 (3) 212-223; DOI: 10.1136/jmg-2023-109420
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome
Anthony M Vandersteen, Ruwan A Weerakkody, David A Parry, Christina Kanonidou, Daniel J Toddie-Moore, Jana Vandrovcova, Rebecca Darlay, Javier Santoyo-Lopez, Alison Meynert, NIHR BioResource, Hanadi Kazkaz, Rodney Grahame, Carole Cummings, Marion Bartlett, Neeti Ghali, Angela F Brady, F Michael Pope, Fleur S van Dijk, Heather J Cordell, Timothy J Aitman

Journal of Medical Genetics Mar 2024, 61 (3) 232-238; DOI: 10.1136/jmg-2023-109329
CCDC66 mutations are associated with high myopia through affected cell mitosis
Xiaozhen Chen, Ping Tong, Ying Jiang, Zhe Cheng, Liyu Zang, Zhikuan Yang, Weizhong Lan, Kun Xia, Zhengmao Hu, Qi Tian

Journal of Medical Genetics Mar 2024, 61 (3) 262-269; DOI: 10.1136/jmg-2023-109434

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