Search Results - "exome sequencing"

Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay by Ji Yoon Han, Hyun Jeong Kim, Ja Hyun Jang, In Goo Lee, Joonhong Park, Joonhong Park

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Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of <i>CTTNBP2</i> in a Quad Family Affected by Autism Spectrum Disorder by Yingmei Xie, Hui Wang, Bing Hu, Xueli Zhang, Aiping Liu, Chunquan Cai, Shijun Li, Cheng Chen, Zhangxing Wang, Zhaoqing Yin, Mingbang Wang

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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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Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing by Guanting Lu, Qiongling Peng, Lianying Wu, Jian Zhang, Liya Ma

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A rare case of TFEB/6p21/VEGFA-amplified renal cell carcinoma diagnosed by whole-exome sequencing: clinicopathological and genetic feature report and literature review by Ruiqi Zhang, Meili Ding, Xingyao Zhu, Xiang Li, Qi Hu, Lin Tao, Wenhao Hu, Hong Zou

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Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report by Xianqing Li, Zongzhe Li, Peng Chen, Yan Wang, Dao Wen Wang, Dao Wu Wang

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Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature by Atefeh Mir, Yongjun Song, Hane Lee, Hossein Khanahmad, Erfan Khorram, Jafar Nasiri, Mohammad Amin Tabatabaiefar

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Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing by Jianlong Zhuang, Chunnuan Chen, Yu'e Chen, Qi Luo, Yuanbai Wang, Yuying Jiang, Shuhong Zeng, Yingjun Xie, Yingjun Xie, Dongmei Chen

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Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in the BTD Gene Leading to Neuromyelitis Optica Spectrum Disorder in Saudi Families by Muhammad Imran Naseer, Muhammad Imran Naseer, Peter Natesan Pushparaj, Peter Natesan Pushparaj, Peter Natesan Pushparaj, Angham Abdulrahman Abdulkareem, Angham Abdulrahman Abdulkareem, Osama Y. Muthaffar

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss by Guangxian Yang, Yi Yin, Zhiping Tan, Jian Liu, Xicheng Deng, Yifeng Yang

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Exome Sequence Data of Eight SLC Transporters Reveal That <i>SLC22A1</i> and <i>SLC22A3</i> Variants Alter Metformin Pharmacokinetics and Glycemic Control by Monserrat I. Morales-Rivera, Radamés Alemón-Medina, Angélica Martínez-Hernández, Cecilia Contreras-Cubas, Nelly F. Altamirano-Bustamante, Josefina Gómez-Garduño, Elvia C. Mendoza-Caamal, J. Orlando Nuñez-González, Raquel García-Álvarez, Cristina Revilla-Monsalve, José Antonio Valcarcel-Gamiño, José Rafael Villafan-Bernal, Federico Centeno-Cruz, Humberto García-Ortiz, Francisco Barajas-Olmos, Lorena Orozco

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Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles by Korbinian Maria Riedhammer, Korbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, Carmen Montoya, Reka Kovacs-Nagy, Matias Wagner, Matias Wagner, Matias Wagner, Thomas Meitinger, Thomas Meitinger, Julia Hoefele

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NOTCH2, ATIC, MRI1, SLC6A13, ATP13A2 Genetic Variations are Associated with Ventricular Septal Defect in the Chinese Tibetan Population Through Whole-Exome Sequencing by Zhang X, Zhen D, Li X, Yi F, Zhang Z, Yang W, Li X, Sheng Y, Liu X, Jin T, He Y

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The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate by Maria Pia Leone, Pietro Palumbo, Orazio Palumbo, Ester Di Muro, Massimiliano Chetta, Nicola Laforgia, Nicoletta Resta, Alessandro Stella, Stefano Castellana, Tommaso Mazza, Marco Castori, Massimo Carella, Nenad Bukvic

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Novel characterization of CASK variant c.1963 A>G (p.Asn655Asp) through whole-exome sequencing in a monochorionic diamniotic twin fetus with significant brain anomalies: A case report by Nathan A. Keller, Luis A. Bracero, Insaf Kouba, Abigail Steinberg, Jolene Muscat, David Bergman

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Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report by Tugce Bozkurt, Yasemin Alanay, Ugur Isik, Ugur Sezerman

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Spontaneous resolution of septated cystic hygroma with a severely increased nuchal translucency thickness of 5.8 mm detected in the first-trimester in a pregnancy with no abnormalities in chromosomal, microarray and whole exome sequencing analyses and a favorable fetal outcome by Chih-Ping Chen, Shin-Wen Chen, Fang-Tzu Wu, Yen-Ting Pan, Wayseen Wang

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Advanced Interpretable Machine Learning Methods for Clinical NGS Big Data of Complex Hereditary Diseases

Subjects: “…WES - whole-exome sequencing…”
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The Identification of the Genetic Components of Autism Spectrum Disorders 2017 by Merlin G. Butler (Ed.)

Subjects: “…next generation DNA exome sequencing and functional analysis…”
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Genetic Conditions Affecting the Skeleton Congenital, Idiopathic Scoliosis and Arthrogryposis

Subjects: “…exome sequencing…”
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