Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss-Reference-Cited by-同舟云学术

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

Published:2018-11-18 Issue:1 Volume:40 Page:53-72
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Richard Elodie M.¹,Santos-Cortez Regie Lyn P.²,Faridi Rabia³⁴^ORCID,Rehman Atteeq U.³,Lee Kwanghyuk²,Shahzad Mohsin¹⁵,Acharya Anushree²,Khan Asma A.⁴,Imtiaz Ayesha³,Chakchouk Imen²,Takla Christina³,Abbe Izoduwa²,Rafeeq Maria⁴,Liaqat Khurram²⁶,Chaudhry Taimur³,Bamshad Michael J.⁷,Nickerson Deborah A.⁷,Schrauwen Isabelle²,Khan Shaheen N.⁴,Morell Robert J.⁸,Zafar Saba⁹,Ansar Muhammad¹⁰,Ahmed Zubair M.¹,Ahmad Wasim¹⁰,Riazuddin Sheikh⁵¹¹,Friedman Thomas B.³^ORCID,Leal Suzanne M.²^ORCID,Riazuddin Saima¹⁵^ORCID,

Affiliation:

1. Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine; University of Maryland; Baltimore Maryland

2. Center for Statistical Genetics; Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

3. Laboratory of Molecular Genetics; National Institute on Deafness and Other Communication Disorders; National Institutes of Health; Bethesda Maryland

4. National Center for Excellence in Molecular Biology; University of the Punjab; Lahore Pakistan

5. Pakistan Institute of Medical Sciences; Shaheed Zulfiqar Ali Bhutto Medical University; Islamabad Pakistan

6. Department of Biotechnology; Faculty of Biological Sciences; Quaid-i-Azam University; Islamabad Pakistan

7. Department of Genome Sciences; University of Washington; Seattle Washington

8. The Genomics and Computational Biology Core; National Institute on Deafness and Other Communication Disorders; National Institutes of Health; Bethesda Maryland

9. Institute of Molecular Biology and Biotechnology; Bahauddin Zakariya University; Multan Pakistan

10. Department of Biochemistry, Faculty of Biological Sciences; Quaid-i-Azam University; Islamabad Pakistan

11. Allama Iqbal Medical College; University of Health Sciences; Lahore Pakistan

Funder

National Institute on Deafness and Other Communication Disorders

National Institutes of Health

Higher Education Commision, Pakistan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23666/fullpdf

Reference137 articles.

1. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees;Abecasis;Nature Genetics,2002

2. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010

3. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23;Ahmed;Human Molecular Genetics,2003

4. Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74;Ahmed;American Journal of Human Genetics,2011

5. GJB2 Gene mutations causing hearing loss in consanguineous Pakistani families;Anjum;Pakistan Journal of Life and Social Sciences,2014

Cited by 58 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss;Scientific Reports;2024-09-13

2. Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment;Journal of Applied Genetics;2024-09-04

3. A sensorineural hearing loss harboring novel compound heterozygous variant in the TRIOBP gene: A case report;Heliyon;2024-09

4. Hamartomas of the Tuber Cinereum Associated with X-Linked Deafness Show Signs of Pubertas Tarda Instead of Pubertas Praecox and No Gelastic Seizures—Long-Term Follow-Up of 12 Years;Neuropediatrics;2024-07-31

5. Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice;Genes;2024-06-27