Human Genome Epidemiology Literature Finder
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Records 1 - 23 (of 23 Records) |
| Query Trace: Intellectual Disability and TRIO[original query] |
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| Clinical significance of de novo and inherited copy-number variation. Human mutation 2013 Dec 34 (12): 1679-87. Vulto-van Silfhout Anneke T, Hehir-Kwa Jayne Y, van Bon Bregje W M, Schuurs-Hoeijmakers Janneke H M, Meader Stephen, Hellebrekers Claudia J M, Thoonen Ilse J M, de Brouwer Arjan P M, Brunner Han G, Webber Caleb, Pfundt Rolph, de Leeuw Nicole, de Vries Bert B |
| SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. Clinical genetics 2015 Oct 88 (4): 327-35. Heimer G, Marek-Yagel D, Eyal E, Barel O, Oz Levi D, Hoffmann C, Ruzzo E K, Ganelin-Cohen E, Lancet D, Pras E, Rechavi G, Nissenkorn A, Anikster Y, Goldstein D B, Ben Zeev |
| Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia. Translational psychiatry 2015 5 e607. Rees E, Kirov G, Walters J T, Richards A L, Howrigan D, Kavanagh D H, Pocklington A J, Fromer M, Ruderfer D M, Georgieva L, Carrera N, Gormley P, Palta P, Williams H, Dwyer S, Johnson J S, Roussos P, Barker D D, Banks E, Milanova V, Rose S A, Chambert K, Mahajan M, Scolnick E M, Moran J L, Tsuang M T, Glatt S J, Chen W J, Hwu H-G, , Neale B M, Palotie A, Sklar P, Purcell S M, McCarroll S A, Holmans P, Owen M J, O'Donovan M |
| Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. Clinical genetics 2016 Apr . Barresi S, Niceta M, Alfieri P, Brankovich V, Piccini G, Bruselles A, Barone M R, Cusmai R, Tartaglia M, Bertini E, Zanni |
| Diagnostic Yield of Intellectual Disability Gene Panels. Pediatric neurology 2018 12 92 32-36. Pekeles Heather, Accogli Andrea, Boudrahem-Addour Nassima, Russell Laura, Parente Fabienne, Srour Myri |
| High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 1 24 (7): 1594-1603. Diets Illja J, Waanders Esmé, Ligtenberg Marjolijn J, van Bladel Diede A G, Kamping Eveline J, Hoogerbrugge Peter M, Hopman Saskia, Olderode-Berends Maran J, Gerkes Erica H, Koolen David A, Marcelis Carlo, Santen Gijs W, van Belzen Martine J, Mordaunt Dylan, McGregor Lesley, Thompson Elizabeth, Kattamis Antonis, Pastorczak Agata, Mlynarski Wojciech, Ilencikova Denisa, van Silfhout Anneke Vulto-, Gardeitchik Thatjana, de Bont Eveline S, Loeffen Jan, Wagner Anja, Mensenkamp Arjen R, Kuiper Roland P, Hoogerbrugge Nicoline, Jongmans Marjolijn |
| Germline de novo variants in CSNK2B in Chinese patients with epilepsy. Scientific reports 2019 12 9 (1): 17909. Li Jinliang, Gao Kai, Cai Shuying, Liu Yin, Wang Yuzhen, Huang Shaoping, Zha Jian, Hu Wenjing, Yu Shujie, Yang Zhixian, Xie Han, Yan Huifang, Wang Jingmin, Wu Ye, Jiang Yu |
| A brief report: de novo copy number variants in children with attention deficit hyperactivity disorder. Translational psychiatry 2020 5 10 (1): 135. Martin Joanna, Hosking Grace, Wadon Megan, Agha Sharifah Shameem, Langley Kate, Rees Elliott, Owen Michael J, O'Donovan Michael, Kirov George, Thapar Ani |
| Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis. BMC medical genetics 2020 5 21 (1): 99. Gu Yi, Xiang Bingwu, Zhu Lina, Ma Xiuwei, Chen Xiang, Cai T |
| Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. Journal of medical genetics 2020 4 57 (7): 466-474. Chevarin Martin, Duffourd Yannis, A Barnard Rebecca, Moutton Sébastien, Lecoquierre François, Daoud Fatma, Kuentz Paul, Cabret Caroline, Thevenon Julien, Gautier Elodie, Callier Patrick, St-Onge Judith, Jouan Thibaud, Lacombe Didier, Delrue Marie Ange, Goizet Cyril, Morice-Picard Fanny, Van-Gils Julien, Munnich Arnold, Lyonnet Stanislas, Cormier-Daire Valérie, Baujat Geneviève, Holder Muriel, Petit Florence, Leheup Bruno, Odent Sylvie, Jouk Pierre-Simon, Lopez Gipsy, Geneviève David, Collignon Patrick, Martin-Coignard Dominique, Jacquette Aurélia, Perrin Laurence, Putoux Audrey, Sarrazin Elisabeth, Amarof Khadija, Missotte Isabelle, Coubes Christine, Jagadeesh Sujatha, Lapi Elisabetta, Demurger Florence, Goldenberg Alice, Doco-Fenzy Martine, Mignot Cyril, Héron Delphine, Jean-Marçais Nolwenn, Masurel Alice, El Chehadeh Salima, Marle Nathalie, Huet Frédéric, Binquet Christine, Collod-Beroud Gwenaëlle, Arnaud Pauline, Hanna Nadine, Boileau Catherine, Jondeau Guillaume, Olaso Robert, Lechner Doris, Poe Charlotte, Assoum Mirna, Carmignac Virginie, Duplomb Laurence, Tran Mau-Them Frédéric, Philippe Christophe, Vitobello Antonio, Bruel Ange-Line, Boland Anne, Deleuze Jean-François, Thauvin-Robinet Christel, Rivière Jean-Baptiste, O'Roak Brian J, Faivre Lauren |
| A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy. European journal of medical genetics 2020 11 64 (1): 104101. Zhao Xuechao, Wang Yanhong, Cai Aojie, Mei Shiyue, Liu Ning, Kong Xiangdo |
| De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth. Human genetics 2020 1 139 (4): 499-512. An Yu, Zhang Linna, Liu Wenwen, Jiang Yunyun, Chen Xue, Lan Xiaoping, Li Gan, Hang Qiang, Wang Jian, Gusella James F, Du Yasong, Shen Yipi |
| Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing. Clinical genetics 2021 3 100 (1): 40-50. Hiraide Takuya, Yamoto Kaori, Masunaga Yohei, Asahina Miki, Endoh Yusaku, Ohkubo Yumiko, Matsubayashi Tomoko, Tsurui Satoshi, Yamada Hidetaka, Yanagi Kumiko, Nakashima Mitsuko, Hirano Kouichi, Sugimura Haruhiko, Fukuda Tokiko, Ogata Tsutomu, Saitsu Hiroto |
| A novel de novo hemizygous ARHGEF9 mutation associated with severe intellectual disability and epilepsy: a case report. The Journal of international medical research 2021 12 49 (11): 3000605211058372. Qiu Tong, Dai Qian, Wang Q |
| Molecular genetic analysis and growth hormone response in patients with syndromic short stature. BMC medical genomics 2021 11 14 (1): 261. Sun Huihui, Li Na, Wan Naij |
| FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association and Oligogenic Inheritance. Neurology. Genetics 2022 7 8 (4): e200009. Goldstein Orly, Inbar Talya, Kedmi Merav, Gana-Weisz Mali, Abramovich Beatrice, Orr-Urtreger Avi, Drory Vivian |
| CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications. Frontiers in molecular neuroscience 2022 5 15 860662. Li Xue-Lian, Li Zong-Jun, Liang Xiao-Yu, Liu De-Tian, Jiang Mi, Gao Liang-Di, Li Huan, Tang Xue-Qing, Shi Yi-Wu, Li Bing-Mei, He Na, Li Bin, Bian Wen-Jun, Yi Yong-Hong, Cheng Chuan-Fang, Wang J |
| Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients. Molecular genetics & genomic medicine 2022 2 10 (4): e1894. Mosallaei Meysam, Ehtesham Naeim, Beheshtian Maryam, Khoshbakht Shahrouz, Davarnia Behzad, Kahrizi Kimia, Najmabadi Hosse |
| NEXMIF variants are associated with epilepsy with or without intellectual disability. Seizure 2023 8 . Zi-Long Ye, Hong-Jun Yan, Qing-Hui Guo, Shu-Qian Zhang, Sheng Luo, Ya-Jun Lian, Yun-Qing Ma, Xin-Guo Lu, Xiao-Rong Liu, Nan-Xiang Shen, Liang-Di Gao, Zheng Chen, Yi-Wu S |
| [Diagnostic value of whole exome sequencing for patients with intellectual disability or global developmental delay]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 648-654. Yangyan Li, Dongzhu Lei, Caiyun Li, Dongqun Huang, Jufang Tan, Haoqing Zha |
| Association of FAT1 with focal epilepsy and correlation between seizure relapse and gene expression stage. Seizure 2023 3 . Zou Dong-Fang, Li Xiao-Yan, Lu Xin-Guo, Wang Huai-Li, Song Wang, Zhang Meng-Wen, Liu Xiao-Rong, Li Bing-Mei, Liao Jian-Xiang, Zhong Jian-Min, Meng Heng, Li B |
| Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes. European journal of human genetics : EJHG 2024 7 . Noor Smal, Fatma Majdoub, Katrien Janssens, Edwin Reyniers, Marije E C Meuwissen, Berten Ceulemans, Hope Northrup, Jeremy B Hill, Lingying Liu, Edoardo Errichiello, Simone Gana, Alanna Strong, Luis Rohena, Rachel Franciskovich, Chaya N Murali, An Huybrechs, Telma Sulem, Run Fridriksdottir, Patrick Sulem, Kari Stefansson, Yan Bai, Jill A Rosenfeld, Seema R Lalani, Haley Streff, , R Frank Kooy, Sarah Weckhuys |
| PPP2R5D heterozygous pathogenic variant causes early-onset parkinsonism and treatment implications: A case report. Parkinsonism & related disorders 2024 5 124 106976. Wai Yan Yau, Srimathy Vijayan, Gianina Ravenscro |
- Page last reviewed:Feb 1, 2024
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