Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines

by Angela Brown, Mansour Zamanpoor, Donald R. Love, Debra O. Prosser
Published 2019-12-01

Clinical genome sequencing and population preferences for information about 'incidental' findings-From medically actionable genes (MAGs) to patient actionable genes (PAGs).

by Thomas Ploug, Søren Holm
Published 2017-01-01

Somatic cancer variant curation and harmonization through consensus minimum variant level data

by Deborah I. Ritter, Sameek Roychowdhury, Angshumoy Roy, Shruti Rao, Melissa J. Landrum, Dmitriy Sonkin, Mamatha Shekar, Caleb F. Davis, Reece K. Hart, Christine Micheel, Meredith Weaver, Eliezer M. Van Allen, Donald W. Parsons, Howard L. McLeod, Michael S. Watson, Sharon E. Plon, Shashikant Kulkarni, Subha Madhavan, on behalf of the ClinGen Somatic Cancer Working Group
Published 2016-11-01

Screening for CCNF Mutations in a Chinese Amyotrophic Lateral Sclerosis Cohort

by Danyang Tian, Jiao Li, Lu Tang, Nan Zhang, Dongsheng Fan, Dongsheng Fan
Published 2018-06-01

Whole-genome sequencing of the world's oldest people.

by Hinco J Gierman, Kristen Fortney, Jared C Roach, Natalie S Coles, Hong Li, Gustavo Glusman, Glenn J Markov, Justin D Smith, Leroy Hood, L Stephen Coles, Stuart K Kim
Published 2014-01-01

Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report

by Wei Guo, Yanguo Zhao, Shuwei Li, Jingqun Wang, Xiang Liu
Published 2020-10-01

Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing.

by Anna Kostareva, Artem Kiselev, Alexandra Gudkova, Goar Frishman, Andreas Ruepp, Dmitrij Frishman, Natalia Smolina, Svetlana Tarnovskaya, Daniel Nilsson, Anna Zlotina, Tatiana Khodyuchenko, Tatiana Vershinina, Tatiana Pervunina, Alexandra Klyushina, Andrey Kozlenok, Gunnar Sjoberg, Irina Golovljova, Thomas Sejersen, Eugeniy Shlyakhto
Published 2016-01-01

A novel c.973G>T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family

by Karimzadeh P, Parvizi Omran S, Ghaedi H, Omrani MD
Published 2019-08-01

Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report

by Qing Liu, Mengling Liu, Tianshu Liu, Yiyi Yu
Published 2020-10-01

Gene panel for Mendelian strokes

by Hui Wang, Wei Li, Hao Li, Zhe Xu, Yue Suo, Si Cheng
Published 2020-12-01

Pathological Variants of Aminoacyl-tRNA-synthetase-Interacting Multifunctional Protein 1 Gene in an Iranian Consanguineous Family With Autosomal Recessive Intellectual Disability

by Sara Cheraghi, Sahar Moghbelinejad, Reza Najafipour
Published 2020-02-01

A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease

by Li-Xi Li, Hai-Lin Dong, Bao-Guo Xiao, Zhi-Ying Wu
Published 2017-01-01

Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation

by Mendoza-Alvarez, Alejandro, Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis Alberto, Marcelino-Rodriguez, Itahisa, Corrales, Almudena, Iñigo-Campos, Antonio, Callero, Ariel, Perez-Rodriguez, Eva, Garcia-Robaina, Jose Carlos, González-Montelongo, Rafaela, Lorenzo-Salazar, Jose Miguel, Flores, Carlos
Published 2020-10-01

Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets

by Parul Sharma, Abhinav Jain, Abhinav Jain, Vinod Scaria, Vinod Scaria, Vinod Scaria
Published 2021-05-01

Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.

by Muhammad Rashid, Muhammad Qasim, Rafaqat Ishaq, Shazia Anwer Bukhari, Zureesha Sajid, Usman Ali Ashfaq, Asma Haque, Zubair M Ahmed
Published 2020-01-01

A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss

by Yin-Hung Lin, Yi-Hsin Lin, Ying-Chang Lu, Tien-Chen Liu, Chien-Yu Chen, Chuan-Jen Hsu, Pei-Lung Chen, Chen-Chi Wu
Published 2017-08-01

High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.

by Nina Makretskaya, Olga Bezlepkina, Anna Kolodkina, Alexey Kiyaev, Evgeny V Vasilyev, Vasily Petrov, Svetlana Kalinenkova, Oleg Malievsky, Ivan I Dedov, Anatoly Tiulpakov
Published 2018-01-01

Generalising better: Applying deep learning to integrate deleteriousness prediction scores for whole-exome SNV studies.

by Ilia Korvigo, Andrey Afanasyev, Nikolay Romashchenko, Mikhail Skoblov
Published 2018-01-01

Genetic variability in Iranian limb‐girdle muscular dystrophy type 2B patients: An evidence of a founder effect

by Marzieh Mojbafan, Shirzadeh Tina, Fatemeh Zafarghandi Motlagh, Andrei Surguchov, Yalda Nilipour, Sirous Zeinali
Published 2019-12-01

Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation

by John Hoon Rim, Yo Jun Choi, Heon Yung Gee
Published 2020-03-01