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Nonsense mutation

Multiple components of PKA and TGF-β pathways are mutated in pseudomyxoma peritonei

Lilli Saarinen, Pirjo Nummela, Alexandra Thiel, Rainer Lehtonen, Petrus Järvinen, Heikki Järvinen, Lauri A. Aaltonen, Anna Lepistö, Sampsa Hautaniemi, Ari Ristimäki

published 20 Apr 2017

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Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing

Meng Yu, Yiming Zheng, Suqin Jin, Qiang Gang, Qingqing Wang, Peng Yu, He Lv, Wei Zhang, Yun Yuan, Zhaoxia Wang

published 12 Apr 2017

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Survey of single-nucleotide polymorphisms in the gene encoding human deoxyribonuclease I-like 2 producing loss of function potentially implicated in the pathogenesis of parakeratosis

Misuzu Ueki, Haruo Takeshita, Natsuko Utsunomiya, Takanao Chino, Noritaka Oyama, Minoru Hasegawa, Kaori Kimura-Kataoka, Junko Fujihara, Reiko Iida, Toshihiro Yasuda

published 10 Apr 2017

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Combining clinical and genomics queries using i2b2 – Three methods

Shawn N. Murphy, Paul Avillach, Riccardo Bellazzi, Lori Phillips, Matteo Gabetta, Alal Eran, Michael T. McDuffie, Isaac S. Kohane

published 07 Apr 2017

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Mechanism for generation of left isomerism in Ccdc40 mutant embryos

Kelsey F. Sugrue, Irene E. Zohn

published 09 Feb 2017

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Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan

Wen-Chen Liang, Xia Tian, Chung-Yee Yuo, Wan-Zi Chen, Tsu-Min Kan, Yi-Ning Su, Ichizo Nishino, Lee-Jun C. Wong, Yuh-Jyh Jong

published 09 Feb 2017

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Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

Caroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels, Sarah De Jaegere, Helena Flipts, Julie De Zaeytijd, Sophie Walraedt, Charlotte Claes, Erik Fransen, Guy Van Camp, Fanny Depasse, Ingele Casteels, Thomy de Ravel, Bart P. Leroy, Elfride De Baere

published 11 Jan 2017

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A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis

Wufang Fan, Bei Wang, Shanshan He, Tengfei Zhang, Chenxing Yin, Yunping Chen, Shuqi Zheng, Jixia Zhang, Lin Li

published 28 Dec 2016

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Tumor-Derived Suppressor of Fused Mutations Reveal Hedgehog Pathway Interactions

Nicole M. Urman, Amar Mirza, Scott X. Atwood, Ramon J. Whitson, Kavita Y. Sarin, Jean Y. Tang, Anthony E. Oro

published 28 Dec 2016

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Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

Marta de Castro-Miró, Raul Tonda, Paula Escudero-Ferruz, Rosa Andrés, Andrés Mayor-Lorenzo, Joaquín Castro, Marcela Ciccioli, Daniel A. Hidalgo, Juan José Rodríguez-Ezcurra, Jorge Farrando, Juan J. Pérez-Santonja, Bru Cormand, Gemma Marfany, Roser Gonzàlez-Duarte

published 22 Dec 2016

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Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

Cécile Méjécase, Caroline Laurent-Coriat, Claudine Mayer, Olivier Poch, Saddek Mohand-Saïd, Camille Prévot, Aline Antonio, Fiona Boyard, Christel Condroyer, Christelle Michiels, Steven Blanchard, Mélanie Letexier, Jean-Paul Saraiva, José-Alain Sahel, Isabelle Audo, Christina Zeitz

published 15 Dec 2016

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Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

Bushra Irum, Shahid Y. Khan, Muhammad Ali, Muhammad Daud, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Hira Iqbal, Arif O. Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A. Nasir, Shaheen N. Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O. Eghrari, S. Amer Riazuddin

published 09 Dec 2016

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CDH1 Missense Variant c.1679C>G (p.T560R) Completely Disrupts Normal Splicing through Creation of a Novel 5’ Splice Site

Zarina Yelskaya, Ruben Bacares, Erin Salo-Mullen, Joshua Somar, Deborah A. Lehrich, Grace-Ann Fasaye, Daniel G. Coit, Laura H. Tang, Zsofia K. Stadler, Liying Zhang

published 23 Nov 2016

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