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

Subjects: “…Digenic inheritance…”
Get full text

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

Subjects: Get full text

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

Subjects: Get full text

Two cases of periodic fever syndrome with coexistent mevalonate kinase and Mediterranean fever gene mutations by Mustafa Çakan, Nuray Aktay-Ayaz, Gonca Keskindemirci, Şerife Gül Karadağ

Subjects: “…digenic inheritance…”
Get full text

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

Subjects: “…Digenic inheritance…”
Get full text

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

Subjects: Get full text

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

Subjects: Get full text

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

Subjects: “…Digenic inheritance…”
Get full text

Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region by Ayat Kadhi, Lamiaa Hamie, Edward Eid, Georges Nemer, Mazen Kurban

Subjects: “…Digenic inheritance…”
Get full text

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

Subjects: Get full text

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

Subjects: Get full text

Exome Sequencing Identifies the Extremely Rare ITGAV and FN1 Variants in Early Onset Inflammatory Bowel Disease Patients by Huda Husain Al-Numan, Huda Husain Al-Numan, Rana Mohammed Jan, Rana Mohammed Jan, Najla bint Saud Al-Saud, Omran M. Rashidi, Nuha Mohammad Alrayes, Hadeel A. Alsufyani, Abdulrahman Mujalli, Abdulrahman Mujalli, Noor Ahmad Shaik, Noor Ahmad Shaik, Mahmoud Hisham Mosli, Mahmoud Hisham Mosli, Ramu Elango, Ramu Elango, Omar I. Saadah, Omar I. Saadah, Babajan Banaganapalli, Babajan Banaganapalli

Subjects: Get full text

Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development by Atsushi Hattori, Maki Fukami

Subjects: “…digenic inheritance…”
Get full text

Reduced penetrance in human inherited disease by Rabah M. Shawky

Subjects: Get full text

Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome by Agne Cerkauskaite, Judy Savige, Karolina Janonyte, Ieva Jeremiciute, Marius Miglinas, Edita Kazenaite, Arvydas Laurinavicius, Rasa Strupaite-Sileikiene, Vija Vainutiene, Birute Burnyte, Augustina Jankauskiene, Arndt Rolfs, Peter Bauer, Sabine Schröder, Rimante Cerkauskiene

Subjects: Get full text