Assessing Disease Severity in Common Variable Immunodeficiency Disorders (CVID) and CVID-Like Disorders

by Rohan Ameratunga, Rohan Ameratunga
Published 2018-09-01

Genotype Pattern Mining for Pairs of Interacting Variants Underlying Digenic Traits

by Atsuko Okazaki, Sukanya Horpaopan, Qingrun Zhang, Matthew Randesi, Jurg Ott
Published 2021-07-01

NGS Analysis Revealed Digenic Heterozygous <i>GCK</i> and <i>HNF1A</i> Variants in a Child with Mild Hyperglycemia: A Case Report

by Fernanda Iafusco, Giovanna Maione, Cristina Mazzaccara, Francesca Di Candia, Enza Mozzillo, Adriana Franzese, Nadia Tinto
Published 2021-06-01

The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype–Phenotype Correlations of the Disease

by Amina Kamar, Athar Khalil, Georges Nemer, Georges Nemer
Published 2021-01-01

Discovery of Digenic Mutation, KCNH2 c.1898A >C and JUP c.916dupA, in a Chinese Family with Long QT Syndrome via Whole-Exome Sequencing

by Yafei Zhai, Jinxin Miao, Ying Peng, Guangming Fang, Chuchu Wang, Yaohe Wang, Xiaoyan Zhao, Jianzeng Dong
Published 2020-07-01

Genetic mutations linked to Parkinson's disease differentially control nucleolar activity in pre-symptomatic mouse models

by Valentin Evsyukov, Andrii Domanskyi, Holger Bierhoff, Suzana Gispert, Rasem Mustafa, Falk Schlaudraff, Birgit Liss, Rosanna Parlato
Published 2017-05-01

Non-collagen genes role in digenic Alport syndrome

by S. Daga, C. Fallerini, S. Furini, C. Pecoraro, F. Scolari, F. Ariani, M. Bruttini, M. A. Mencarelli, F. Mari, A. Renieri, A. M. Pinto
Published 2019-02-01

Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique

by Xuechao Zhao, Chen Chen, Yanfu Wei, Ganye Zhao, Lina Liu, Conghui Wang, Junjun Zhang, Xiangdong Kong
Published 2019-06-01

Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism

by Rahma Mkaouar, Rahma Mkaouar, Lamia Cherif Ben Abdallah, Chokri Naouali, Saida Lahbib, Zinet Turki, Sahar Elouej, Yosra Bouyacoub, Maali Somai, Kenneth Mcelreavey, Anu Bashamboo, Sonia Abdelhak, Olfa Messaoud
Published 2021-09-01

Exploring digenic inheritance in arrhythmogenic cardiomyopathy

by Eva König, Claudia Béu Volpato, Benedetta Maria Motta, Hagen Blankenburg, Anne Picard, Peter Pramstaller, Michela Casella, Werner Rauhe, Giulio Pompilio, Viviana Meraviglia, Francisco S. Domingues, Elena Sommariva, Alessandra Rossini
Published 2017-12-01

GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of...

by Vassos Neocleous, Vassos Neocleous, Pavlos Fanis, Pavlos Fanis, Meropi Toumba, Meropi Toumba, George A. Tanteles, George A. Tanteles, Melpo Schiza, Melpo Schiza, Feride Cinarli, Feride Cinarli, Nicolas C. Nicolaides, Nicolas C. Nicolaides, Anastasis Oulas, Anastasis Oulas, George M. Spyrou, George M. Spyrou, Christos S. Mantzoros, Christos S. Mantzoros, Dimitrios Vlachakis, Dimitrios Vlachakis, Dimitrios Vlachakis, Nicos Skordis, Nicos Skordis, Nicos Skordis, Leonidas A. Phylactou, Leonidas A. Phylactou
Published 2020-08-01

Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension

by Jair Antonio Tenorio Castaño, Ignacio Hernández-Gonzalez, Natalia Gallego, Carmen Pérez-Olivares, Nuria Ochoa Parra, Pedro Arias, Elena Granda, Gonzalo Gómez Acebo, Mauro Lago-Docampo, Julian Palomino-Doza, Manuel López Meseguer, María Jesús del Cerro, Spanish PAH Consortium, Diana Valverde, Pablo Lapunzina, Pilar Escribano-Subías
Published 2020-09-01

Mutations in Collagen Genes in the Context of an Isolated Population

by Andrej Zupan, Alenka Matjašič, Gašper Grubelnik, Velibor Tasić, Ana Momirovska
Published 2020-11-01

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

by Isabelle Schrauwen, Imen Chakchouk, Anushree Acharya, Khurram Liaqat, Irfanullah, University of Washington Center for Mendelian Genomics, Deborah A. Nickerson, Michael J. Bamshad, Khadim Shah, Wasim Ahmad, Suzanne M. Leal
Published 2018-07-01

The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases

by Noam Auslander, Daniel M Ramos, Ivette Zelaya, Hiren Karathia, Thomas O. Crawford, Alejandro A Schäffer, Charlotte J Sumner, Eytan Ruppin
Published 2020-12-01

Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis−10 New Cases of Congenital Hypothyroidism and a Literature Review

by Rulai Yang, Yijun Lu, Chenxi Yang, Xiaoyu Wu, Junqi Feng, Junqi Feng, Ling Zhu, Qiang Shu, Qiang Shu, Pingping Jiang, Pingping Jiang, Pingping Jiang
Published 2021-08-01

Genetic and clinical findings of panel‐based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa

by Yan Sun, Wei Li, Jian‐kang Li, Zhuo‐shi Wang, Jin‐yue Bai, Ling Xu, Bo Xing, Wen Yang, Zi‐wei Wang, Lu‐sheng Wang, Wei He, Fang Chen
Published 2020-04-01

Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss

by Monika Ołdak, Urszula Lechowicz, Agnieszka Pollak, Dominika Oziębło, Henryk Skarżyński
Published 2019-08-01

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

by Konstantinos Voskarides, Gregory Papagregoriou, Despina Hadjipanagi, Ioanelli Petrou, Isavella Savva, Avraam Elia, Yiannis Athanasiou, Androulla Pastelli, Maria Kkolou, Michalis Hadjigavriel, Christoforos Stavrou, Alkis Pierides, Constantinos Deltas
Published 2018-05-01

Beyond monogenic diseases: a first collection and analysis of digenic diseases

by Gazzo, Andrea
Published 2018