genetics

Stay at home: implementation and impact of virtualising cancer genetic services during COVID-19
Maia Leigh Norman, Janet Malcolmson, Susan Randall Armel, Brittany Gillies, Brian Ou, Emily Thain, Jeanna Marie McCuaig, Raymond H Kim

Journal of Medical Genetics Oct 2020, jmedgenet-2020-107418; DOI: 10.1136/jmedgenet-2020-107418
CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes
Tom Walsh, Silvia Casadei, Katherine M Munson, Mary Eng, Jessica B Mandell, Suleyman Gulsuner, Mary-Claire King

Journal of Medical Genetics Oct 2020, jmedgenet-2020-107320; DOI: 10.1136/jmedgenet-2020-107320
Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature
Eungu Kang, Minji Kang, Younghee Ju, Sang-Joon Lee, Yong-Seok Lee, Dong-Cheol Woo, Young Hoon Sung, In-Jeoung Baek, Woo Hyun Shim, Woo-Chan Son, In Hee Choi, Eul-Ju Seo, Han-Wook Yoo, Yong-Mahn Han, Beom Hee Lee

Journal of Medical Genetics Oct 2020, jmedgenet-2020-107111; DOI: 10.1136/jmedgenet-2020-107111
Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era
Zhiying Xie, Chengyue Sun, Yilin Liu, Meng Yu, Yiming Zheng, Lingchao Meng, Gao Wang, Diana M Cornejo-Sanchez, Thashi Bharadwaj, Jin Yan, Lingxiang Zhang, Nicolas Pineda-Trujillo, Wei Zhang, Suzanne M. Leal, Isabelle Schrauwen, Zhaoxia Wang, Yun Yuan

Journal of Medical Genetics Sep 2020, jmedgenet-2020-107113; DOI: 10.1136/jmedgenet-2020-107113
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 Sep 2020, jmedgenet-2020-107299; DOI: 10.1136/jmedgenet-2020-107299
Globotriaosylsphingosine (lyso-Gb₃) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort
Grigoris Effraimidis, Ulla Feldt-Rasmussen, Åse Krogh Rasmussen, Pamela Lavoie, Mona Abaoui, Michel Boutin, Christiane Auray-Blais

Journal of Medical Genetics Sep 2020, jmedgenet-2020-107162; DOI: 10.1136/jmedgenet-2020-107162
Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation
Priyam Jani, Quynh C Nguyen, Konstantinia Almpani, Cyrus Keyvanfar, Rashmi Mishra, Denise Liberton, Pamela Orzechowski, Pamela A Frischmeyer-Guerrerio, Olivier Duverger, Janice S Lee

Journal of Medical Genetics Oct 2020, 57 (10) 699-707; DOI: 10.1136/jmedgenet-2019-106678
Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility
Guillaume Martinez, Julie Beurois, Denis Dacheux, Caroline Cazin, Marie Bidart, Zine-Eddine Kherraf, Derrick R Robinson, Véronique Satre, Gerald Le Gac, Chandran Ka, Isabelle Gourlaouen, Yann Fichou, Graciane Petre, Emmanuel Dulioust, Raoudha Zouari, Nicolas Thierry-Mieg, Aminata Touré, Christophe Arnoult, Mélanie Bonhivers, Pierre Ray, Charles Coutton

Journal of Medical Genetics Oct 2020, 57 (10) 708-716; DOI: 10.1136/jmedgenet-2019-106775
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

Journal of Medical Genetics Aug 2020, jmedgenet-2020-107198; DOI: 10.1136/jmedgenet-2020-107198
Constitutional de novo deletion CNV encompassing REST predisposes to diffuse hyperplastic perilobar nephroblastomatosis (HPLN)
Zerin Hyder, Adele Fairclough, Mike Groom, Joan Getty, Elizabeth Alexander, Elke M van Veen, Guy Makin, Chitra Sethuraman, Vivian Tang, D Gareth Evans, Eamonn R Maher, Emma R Woodward

Journal of Medical Genetics Sep 2020, jmedgenet-2020-107087; DOI: 10.1136/jmedgenet-2020-107087

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