Genetic heterogeneity

Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review
Chujun Wu, Zaiqiang Zhang

Journal of Medical Genetics May 2024, 61 (5) 430-434; DOI: 10.1136/jmg-2023-109397
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
Tamar Hayman, Talya Millo, Karen Hendler, Itay Chowers, Menachem Gross, Eyal Banin, Dror Sharon

Journal of Medical Genetics Mar 2024, 61 (3) 224-231; DOI: 10.1136/jmg-2023-109482
Carriers of autosomal recessive conditions: are they really ‘unaffected?’
Amber Hames, Sophia Khan, Clara Gilliland, Lucy Goldman, Hillary WH Lo, Kevin Magda, Justine Keathley

Journal of Medical Genetics Jan 2024, 61 (1) 1-7; DOI: 10.1136/jmg-2023-109563
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method
Konstantinia Almpani, Denise K. Liberton, Priyam Jani, Cyrus Keyvanfar, Rashmi Mishra, Natasha Curry, Pamela Orzechowski, Pamela A. Frischmeyer-Guerrerio, Janice S. Lee

Journal of Medical Genetics Oct 2022, 59 (10) 938-946; DOI: 10.1136/jmedgenet-2021-107695
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease
Angèle Tingaud-Sequeira, Aurélien Trimouille, Thomas Sagardoy, Didier Lacombe, Caroline Rooryck

Journal of Medical Genetics May 2022, 59 (5) 417-427; DOI: 10.1136/jmedgenet-2021-108219
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
Francesco Nicita, Monia Ginevrino, Lorena Travaglini, Stefano D'Arrigo, Giovanna Zorzi, Renato Borgatti, Gaetano Terrone, Michela Catteruccia, Gessica Vasco, Vesna Brankovic, Sabrina Siliquini, Silvia Romano, Chiara Veredice, Marina Pedemonte, Michelina Armando, Donatella Lettori, Fabrizia Stregapede, Luca Bosco, Antonella Sferra, Valeria Tessarollo, Romina Romaniello, Giovanni Ristori, Enrico Bertini, Enza Maria Valente, Ginevra Zanni

Journal of Medical Genetics Jul 2021, 58 (7) 475-483; DOI: 10.1136/jmedgenet-2020-107007
Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations
Shanmuga Priya Bhaskaran, Teng Huang, Barani Kumar Rajendran, Maoni Guo, Jiangtao Luo, Zixin Qin, Bojin Zhao, Jiasheng Chian, Suicheng Li, San Ming Wang

Journal of Medical Genetics Nov 2021, 58 (11) 752-759; DOI: 10.1136/jmedgenet-2020-107299
Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma
Jung Hee Kim, Man Jin Kim, Sung Hye Kong, Su Jin Kim, Hyein Kang, Chan Soo Shin, Sung Sup Park, Kyu Eun Lee, Moon-Woo Seong

Journal of Medical Genetics Jan 2022, 59 (1) 56-64; DOI: 10.1136/jmedgenet-2020-107102
Peutz-Jeghers families unlinked toSTK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma
Sylviane Olschwang, Cécile Boisson, Gilles Thomas

Journal of Medical Genetics Jun 2001, 38 (6) 356-360; DOI: 10.1136/jmg.38.6.356
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome
Pauline Arnaud, Nadine Hanna, Mélodie Aubart, Bruno Leheup, Sophie Dupuis-Girod, Sophie Naudion, Didier Lacombe, Olivier Milleron, Sylvie Odent, Laurence Faivre, Laurence Bal, Thomas Edouard, Gwenaëlle Collod-Beroud, Maud Langeois, Myrtille Spentchian, Laurent Gouya, Guillaume Jondeau, Catherine Boileau

Journal of Medical Genetics Feb 2017, 54 (2) 100-103; DOI: 10.1136/jmedgenet-2016-103996

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Genetic heterogeneity

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Genetic heterogeneity

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