Use of high-throughput targeted exome sequencing in genetic diagnosis of Chinese family with congenital cataract

by Ming-Fu Ma, Lian-Bing Li, Yun-Qi Pei, Zhi Cheng
Published 2016-05-01

Whole Exome Sequencing of Chronic Myeloid Leukemia Patients

by Shaghayegh SABRI, Manouchehr KEYHANI, Mohammad Taghi AKBARI
Published 2016-03-01

Whole-Exomes Sequencing Delineates Gene Variants Profile in a Young Saudi Male with Familial Hypercholesterolemia: Case Report

by Edem Nuglozeh
Published 2017-06-01

Comprehensive Outline of Whole Exome Sequencing Data Analysis Tools Available in Clinical Oncology

by Áron Bartha, Balázs Győrffy
Published 2019-11-01

New Insights in Genetic and Epigenetic Mechanisms Involved in Parathyroid Tumorigenesis

by Starker, Lee
Published 2013

The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculu...

by Glenn S. Gerhard, Qunyan Jin, Barbara V. Paynton, Steven N. Popoff
Published 2016-10-01

Whole exome analysis of individuals and families with chronic recurrent multifocal osteomyelitis (CRMO)

by Cox, Allison Jeanne
Published 2016

Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

by Dayne L. Filer, Fengshen Kuo, Alicia T. Brandt, Christian R. Tilley, Piotr A. Mieczkowski, Jonathan S. Berg, Kimberly Robasky, Yun Li, Chris Bizon, Jeffery L. Tilson, Bradford C. Powell, Darius M. Bost, Clark D. Jeffries, Kirk C. Wilhelmsen
Published 2021-07-01

A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

by Ramakrishnan Rajagopalan, Jill R. Murrell, Minjie Luo, Laura K. Conlin
Published 2020-01-01

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex

by Wei-Ting Tu, Peng-Chieh Chen, Ping-Chen Hou, Hsin-Yu Huang, Jing-Yu Wang, Sheau-Chiou Chao, Julia Yu-Yun Lee, John A. McGrath, Ken Natsuga, Chao-Kai Hsu
Published 2020-08-01

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
Published 2020-10-01

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
Published 2020-08-01

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
Published 2020-09-01

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
Published 2019-10-01

Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls

by Kevin J. Arvai, Maegan E. Roberts, Rebecca I. Torene, Lisa R. Susswein, Megan L. Marshall, Zhancheng Zhang, Natalie J. Carter, Lauren Yackowski, Erica S. Rinella, Rachel T. Klein, Kathleen S. Hruska, Kyle Retterer
Published 2019-07-01

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
Published 2020-05-01

Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin

by Fahad Almutawa, Thusanth Thusaringam, Kevin Watters, Tenzin Gayden, Nada Jabado, Denis Sasseville
Published 2015-08-01

Exome Sequencing in Fetuses with Structural Malformations

by Fiona L. Mackie, Keren J. Carss, Sarah C. Hillman, Matthew E. Hurles, Mark D. Kilby
Published 2014-07-01

EXOME SEQUENCING REVEALS PRIMARY IMMUNODEFICIENCIES IN CHILDREN WITH COMMUNITY-ACQUIRED PSEUDOMONAS AERUGINOSA SEPSIS

by Samira Asgari, Samira Asgari, Paul McLaren, Paul McLaren, Jane Peake, Melanie Wong, Richard Wong, Joshua R Francis, Joshua R Francis, Katia Abarca, Kyra A Gelderman, Philipp Agyeman, Christoph Aebi, Christoph Berger, Jacques Fellay, Jacques Fellay, Luregn J Schlapbach, Luregn J Schlapbach
Published 2016-09-01

Guidelines for genetic skeletal dysplasias for pediatricians

by Sung Yoon Cho, Dong-Kyu Jin
Published 2015-12-01