Human Genome Epidemiology Literature Finder
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Records 1 - 7 (of 7 Records) |
| Query Trace: Disease and OFD1[original query] |
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| Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. Genome medicine 2017 Oct 9 (1): 95. Li Alexander H, Hanchard Neil A, Furthner Dieter, Fernbach Susan, Azamian Mahshid, Nicosia Annarita, Rosenfeld Jill, Muzny Donna, D'Alessandro Lisa C A, Morris Shaine, Jhangiani Shalini, Parekh Dhaval R, Franklin Wayne J, Lewin Mark, Towbin Jeffrey A, Penny Daniel J, Fraser Charles D, Martin James F, Eng Christine, Lupski James R, Gibbs Richard A, Boerwinkle Eric, Belmont John |
| Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing. Scientific reports 2018 Sep 8 (1): 13312. González-Del Pozo María, Martín-Sánchez Marta, Bravo-Gil Nereida, Méndez-Vidal Cristina, Chimenea Ángel, Rodríguez-de la Rúa Enrique, Borrego Salud, Antiñolo Guiller |
| Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1. BioMed research international 2018 12 2018 4032543. Linpeng Siyuan, Liu Jing, Pan Jianyan, Cao Yingxi, Teng Yanling, Liang Desheng, Li Zhuo, Wu Lingqi |
| Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China. The Journal of pediatrics 2020 6 225 157-165.e5. Guo Zhuoyao, Chen Weicheng, Wang Libo, Qian Lili |
| Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis. Journal of medical genetics 2020 5 57 (6): 405-413. Jiang Heng, Liang Shulun, He Kai, Hu Jinghua, Xu Enjie, Lin Tao, Meng Yichen, Zhao Jianquan, Ma Jun, Gao Rui, Wang Ce, Yang Fu, Zhou Xuh |
| Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions. Human molecular genetics 2022 2 31 (14): 2307-2316. Green Timothy E, Motelow Joshua E, Bennett Mark F, Ye Zimeng, Bennett Caitlin A, Griffin Nicole G, Damiano John A, Leventer Richard J, Freeman Jeremy L, Harvey A Simon, Lockhart Paul J, Sadleir Lynette G, Boys Amber, Scheffer Ingrid E, Major Heather, Darbro Benjamin W, Bahlo Melanie, Goldstein David B, Kerrigan John F, Heinzen Erin L, Berkovic Samuel F, Hildebrand Michael |
| Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants. Neurology. Genetics 2024 9 10 (5): e200180. Lina Sami, Mathilde Chipaux, Sarah Ferrand-Sorbets, Marion Doladilhe, Christine Bulteau, Emmanuel Raffo, Sarah Rosenberg, Georg Dorfmuller, Rayann Checri, Jean-Madeleine De Sainte Agathe, Eric Leguern, Homa Adle-Biassette, Sara Baldassari, Stephanie Baul |
- Page last reviewed:Feb 1, 2024
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