Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity

Youssefian, Leila
Saeidian, Amir Hossein
Palizban, Fahimeh
Bagherieh, Atefeh
Abdollahimajd, Fahimeh
Sotoudeh, Soheila
Mozafari, Nikoo
Farahani, Rahele A
Mahmoudi, Hamidreza
Babashah, Sadegh
Zabihi, Masoud
Zeinali, Sirous
Fortina, Paolo
Salas-Alanis, Julio C
South, Andrew P
Vahidnezhad, Hassan
Uitto, Jouni

Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA
Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, PA, USA
Laboratory of Complex Biological Systems and Bioinformatics, Institute of Biochemistry and Biophysics, University of Tehran, Tehran, Iran
Department of Molecular Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran
Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Department of Dermatology, Children's Medical Center, Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, United States of America
Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran
Kawsar Human Genetics Research Center, Tehran, Iran
Cancer Genomics and Bioinformatics, Department of Cancer Biology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA, USA
Department of Translation and Precision Medicine, Sapienza University, Rome, Italy
Dystrophic Epidermolysis Bullosa Research Association, Mexico

Leila Youssefian and Amir Hossein Saeidian authors contributed equally to this work.

Hassan Vahidnezhad and Jouni Uitto authors contributed equally to this work.

Address correspondence to: J.U. at Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, 233 S. 10th St., Suite 450 BLSB, Philadelphia, PA 19107, USA. Fax 1-215-503-5788; e-mail [email protected]. H.V. at Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, 233 S. 10th St., Suite 450 BLSB, Philadelphia, PA 19107, USA. Fax 1-215-503-5788; e-mail [email protected].

Received September 15, 2020

Accepted February 11, 2021

This article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model)

Clinical Chemistry 67(6):p 876-888, June 2021. | DOI: 10.1093/clinchem/hvab042