Whole-exome sequencing of oral epithelial dysplasia samples reveals an association with new genes by Daniela ADORNO-FARIAS, Jean Nunes dos SANTOS, Wilfredo GONZÁLEZ-ARRIAGADA, Sandra TARQUINIO, Rodrigo Alberto SANTIBÁÑEZ PALOMINOS, Alberto Jesus MARTÍN MARTÍN, Ricardo FERNANDEZ-RAMIRES

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A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype by Rory J. Tinker, Tiffany Guess, David C. Rinker, Jonathan H. Sheehan, Daniel Lubarsky, Binu Porath, Mackenzie Mosera, Ping Mayo, Emily Solem, Laura A. Lee, Asha Sarma, Jennifer Brault

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A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family by Xiaoying Xie, Juan Du, Shunkang Geng, Baoqin Yi, Qingpu Li, Jiangcheng Zuo

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A new type of oculocutaneous albinism with a novel mutation by Sang Yoon Lee, Eun Joo Lee, Jun Chul Byun, Kyung Mi Jang, Sae Yoon Kim, Su-Kyeong Hwang

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Investigation of Monogenic Diabetes Genes in Thai Children with Autoantibody Negative Diabetes Requiring Insulin by Teerawattanapong N, Tangjarusritaratorn T, Narkdontri T, Santiprabhob J, Tangjittipokin W

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Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report by Kouhei Den, Yosuke Kudo, Mitsuhiro Kato, Kosuke Watanabe, Hiroshi Doi, Fumiaki Tanaka, Hirokazu Oguni, Satoko Miyatake, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Satomi Mitsuhashi, Naomichi Matsumoto

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Síndrome de Arboleda-Tham causado por nova variante genética by Ivana Cardoso, Margarida Fernandes, Rita Quental, Marta Vila Real, Fátima Santos

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Compound Homozygous Rare Mutations in PLCE1 and HPS1 Genes Associated with Autosomal Recessive Retinitis Pigmentosa in Pakistani Families by Masroor Ellahi Babar, Akhtar Ali, Syed Hassan Abbas, Mirza Jawad ul Hasnain, Nida Babar, Hira Babar, Tanveer Hussain, Asif Nadeem, Namra Ayub, Sundus Shahid, Muhammad Tariq Pervez

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Identification of mutations associated with congenital cataracts in nineteen Chinese families by Hai-Sen Sun, Teng Huang, Zhe-Xuan Liu, Yi-Tong Xu, Ya-Qi Wang, Ming-Cheng Wang, Shen-Rong Zhang, Jia-Lin Xu, Kai-Yi Zhu, Wen-Kai Huang, Xiu-Feng Huang, Jin Li

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Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes by Morag A. Lewis, Lisa S. Nolan, Barbara A. Cadge, Lois J. Matthews, Bradley A. Schulte, Judy R. Dubno, Karen P. Steel, Sally J. Dawson

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Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay by Go Hun Seo, Hane Lee, Jungsul Lee, Heonjong Han, You Kyung Cho, Minji Kim, Yunha Choi, Jeongmin Choi, In Hee Choi, Seonkyeong Rhie, Kyu Young Chae, Yoo-Mi Kim, Chong Kun Cheon, Su Jin Kim, Jieun Lee, Eungu Kang, Jung Hye Byeon, Hee Joon Yu, Young-Lim Shin, Arum Oh, Woo Jin Kim, Mi-Sun Yum, Beom Hee Lee, Baik-Lin Eun

Subjects: “…Whole exome sequencing…”
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Genetic testing and family screening in idiopathic pediatric cardiomyopathy: a prospective observational study from a tertiary care center in North India by Dheeraj D. Bhatt, Susi Mathews, Vanshika Ahuja, Uzma Shamim, Bharathram Uppilli, Shreya Bari, Dinesh Kumar, Faruq Mohammed

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Identification of rare paired box 3 variant in strabismus by whole exome sequencing by Hui-Min Gong, Jing Wang, Jing Xu, Zhan-Yu Zhou, Jing-Wen Li, Shu-Fang Chen

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A Novel Arg120Pro Mutation in the RP2 Gene in an Iranian Family with X-linked Retinitis Pigmentosa: A Case Report by Nasrin Mansouri, Parichehr Darabi, Masoumeh Favaedi, Hanieh Faizmahdavi, Soheila Nankali, Marjan Assefi, Alireza Sharafshah, Vahid Omarmeli

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Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population by Mandy H.Y. Tsang, Anna K.Y. Kwong, Kate L.S. Chan, Jasmine L.F. Fung, Mullin H.C. Yu, Christopher C.Y. Mak, Kit-San Yeung, Richard J.T. Rodenburg, Jan A.M. Smeitink, Rachel Chan, Thomas Tsoi, Joannie Hui, Shelia S.N Wong, Shuk-Mui Tai, Victor C.M. Chan, Che-Kwan Ma, Sharon T.H. Fung, Shun-Ping Wu, W.K. Chak, Brian H.Y. Chung, Cheuk-Wing Fung

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Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes by Chieh‐Wen Kuo, Wuh‐Liang Hwu, Yin‐Hsiu Chien, Ching Hsu, Miao‐Zi Hung, I‐Lin Lin, Feipei Lai, Ni‐Chung Lee

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Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia by Neven Maksemous, Heidi G. Sutherland, Robert A. Smith, Larisa M. Haupt, Lyn R. Griffiths

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Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia by Mengting Li, Qi Yang, Sheng Yi, Zailong Qin, Jingsi Luo, Xin Fan

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Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss by Agnieszka Pollak, Urszula Lechowicz, Victor Abel Murcia Pieńkowski, Piotr Stawiński, Joanna Kosińska, Henryk Skarżyński, Monika Ołdak, Rafał Płoski

Subjects: “…Whole exome sequencing…”
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Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy [Letter] by Idrus HH

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