Volume 141, Issue 3-4 | Human Genetics

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Volume 141, Issue 3-4

April 2022

Special Issue: The Molecular Genetics of Hearing and Deafness

Issue Editors:

Kevin T Booth,
A. Eliot Shearer

52 articles in this issue

Editorial to the Special Issue on “The molecular genetics of hearing and deafness”
Kevin T. Booth
A. Eliot Shearer
Editorial 04 April 2022 Pages: 305 - 306
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
The hearing-impaired patient: what the future holds
Richard J. H. Smith
Short Communication 15 March 2022 Pages: 307 - 310
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Genetic hearing loss: the audiologist’s perspective
Carmen C. Brewer
Kelly A. King
Perspective 04 September 2021 Pages: 311 - 314
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Genetic testing for pediatric hearing loss: no time to waste
Margaret A. Kenna
Perspective 30 March 2022 Pages: 315 - 317
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Advancing discovery in hearing research via biologist-friendly access to multi-omic data
Ronna Hertzano
Anup Mahurkar
Perspective Open access 02 March 2022 Pages: 319 - 322
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
The noncoding genome and hearing loss
Karen B. Avraham
Lama Khalaily
Shahar Taiber
Review 07 September 2021 Pages: 323 - 333
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Central auditory deficits associated with genetic forms of peripheral deafness
Nicolas Michalski
Christine Petit
Review Open access 25 August 2021 Pages: 335 - 345
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Deafness-in-a-dish: modeling hereditary deafness with inner ear organoids
Daniel R. Romano
Eri Hashino
Rick F. Nelson
Review Open access 03 August 2021 Pages: 347 - 362
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores
Takushi Miyoshi
Inna A. Belyantseva
Thomas B. Friedman
Review 07 July 2021 Pages: 363 - 382
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Novel gene discovery for hearing loss and other routes to increased diagnostic rates
Hannie Kremer
Perspective Open access 01 October 2021 Pages: 383 - 386
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings
Wafaa Abbasi
Courtney E. French
A. Eliot Shearer
Review 22 November 2021 Pages: 387 - 400
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss
Fengxiao Bu
Mingjun Zhong
Huijun Yuan
Original Investigation 19 February 2022 Pages: 401 - 411
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future
Anushree Acharya
Isabelle Schrauwen
Suzanne M. Leal
Review 22 July 2021 Pages: 413 - 430
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene
Justin A. Pater
Cindy Penney
Terry-Lynn Young
Original Investigation Open access 12 March 2022 Pages: 431 - 444
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss
Dominika Oziębło
Sang‐Yeon Lee
Monika Ołdak
Original Investigation 07 March 2022 Pages: 445 - 453
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss
Keiji Honda
Andrew J. Griffith
Review 03 August 2021 Pages: 455 - 464
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant
Jeroen J. Smits
Suzanne E. de Bruijn
Hannie Kremer
Original Investigation Open access 19 August 2021 Pages: 465 - 484
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Racial and ethnic disparities in genetic testing for hearing loss: a systematic review and synthesis
Stephanie L. Rouse
Michelle M. Florentine
Dylan K. Chan
Review Open access 07 September 2021 Pages: 485 - 494
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss
Michelle M. Florentine
Stephanie L. Rouse
Dylan K. Chan
Original Investigation Open access 13 September 2021 Pages: 495 - 504
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Hearing loss in Africa: current genetic profile
Samuel Mawuli Adadey
Edmond Wonkam-Tingang
Ambroise Wonkam
Review Open access 05 October 2021 Pages: 505 - 517
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss
Ana Carla Batissoco
Vinicius Pedroso-Campos
Karina Lezirovitz
Original Investigation 01 October 2021 Pages: 519 - 538
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Genetic etiology of non-syndromic hearing loss in Latin America
Karina Lezirovitz
Regina Célia Mingroni-Netto
Review 15 October 2021 Pages: 539 - 581
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges
Amal Souissi
Abdullah A. Gibriel
Saber Masmoudi
Review 15 July 2021 Pages: 583 - 593
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries
Abdullah Al Mutery
Mona Mahfood
Abdelaziz Tlili
Review 02 August 2021 Pages: 595 - 605
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean’s founder population
Tania Cruz Marino
Jessica Tardif
Nancy Braverman
Original Investigation 13 August 2021 Pages: 607 - 622
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Genetic etiology of hearing loss in Iran
Mojgan Babanejad
Maryam Beheshtian
Hossein Najmabadi
Review 20 January 2022 Pages: 623 - 631
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Molecular genetic landscape of hereditary hearing loss in Pakistan
Sadaf Naz
Review 25 July 2021 Pages: 633 - 648
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Genetic etiology of hearing loss in Russia
Olga L. Posukh
Review 06 August 2021 Pages: 649 - 663
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients
Shin-ichi Usami
Shin-ya Nishio
Review Open access 01 October 2021 Pages: 665 - 681
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Genetic etiology of non-syndromic hearing loss in Europe
Ignacio del Castillo
Matías Morín
Miguel A. Moreno-Pelayo
Review 19 January 2022 Pages: 683 - 696
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia
Aisen V. Solovyev
Alena Kushniarevich
Sardana A. Fedorova
Original Investigation 27 November 2021 Pages: 697 - 707
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification
Sedigheh Delmaghani
Aziz El-Amraoui
Review Open access 30 March 2022 Pages: 709 - 735
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2
M. Stemerdink
B. García-Bohórquez
J. M. Millan
Review 30 July 2021 Pages: 737 - 758
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches
Azmi Marouf
Benjamin Johnson
Kumar N. Alagramam
Review 23 March 2022 Pages: 759 - 783
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
Paulina Bahena
Narsis Daftarian
Thomas Haaf
Original Investigation Open access 20 June 2021 Pages: 785 - 803
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder
Rabia Faridi
Alessandro Rea
Thomas B. Friedman
Review 02 August 2021 Pages: 805 - 819
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes
Xue Gao
Pu Dai
Yong-Yi Yuan
Review 07 July 2021 Pages: 821 - 838
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Analysis of genotype–phenotype relationships in 90 Chinese probands with Waardenburg syndrome
Guojian Wang
Xiaohong Li
Pu Dai
Original Article 17 June 2021 Pages: 839 - 852
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study
Ryan K. Thorpe
Hela Azaiez
Richard J. H. Smith
Original Investigation 23 August 2021 Pages: 853 - 863
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan
Yoh-ichiro Iwasa
Shin-ya Nishio
Shin-ichi Usami
Original Investigation Open access 18 September 2021 Pages: 865 - 875
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss
Ryan K. Thorpe
W. Daniel Walls
Richard J. H. Smith
Original Investigation 17 January 2022 Pages: 877 - 887
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype–genotype study
Kyung Seok Oh
Daniel Walls
Jinsei Jung
Original Investigation 16 September 2021 Pages: 889 - 901
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss
Shin-ichi Usami
Yuichi Isaka
Shin-ya Nishio
Original Investigation Open access 12 January 2022 Pages: 903 - 914
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation
John Hoon Rim
Byunghwa Noh
Heon Yung Gee
Original Investigation Open access 14 September 2021 Pages: 915 - 927
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss
Shin-ya Nishio
Shin-ichi Usami
Original Investigation Open access 14 September 2021 Pages: 929 - 937
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Genetics of otosclerosis: finally catching up with other complex traits?
Lisse J. M. Tavernier
Erik Fransen
Guy Van Camp
Review 09 September 2021 Pages: 939 - 950
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis
Allan Thomas Højland
Lisse J. M. Tavernier
Erik Fransen
Original Investigation 19 August 2021 Pages: 951 - 963
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene
Nelly Abdelfatah
Ahmed A. Mostafa
Terry-Lynn Young
Original Investigation Open access 11 October 2021 Pages: 965 - 979
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Hearing loss and tinnitus: association studies for complex-hearing disorders in mouse and man
Ely Cheikh Boussaty
Rick Adam Friedman
Royce E. Clifford
Review 27 July 2021 Pages: 981 - 990
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant
Jeroen J. Smits
Suzanne E. de Bruijn
Hannie Kremer
Correction 04 October 2021 Pages: 991 - 991
Part of 2 collections:

The Molecular Genetics of Hearing and Deafness

The Molecular Genetics of Hearing and Deafness