Publications:

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Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.

International Journal Of Molecular Sciences

Pál, Margit M; Nagy, Dóra D; Neller, Alexandra A; Farkas, Katalin K; Leprán-Török, Dóra D; Nagy, Nikoletta N; Füstös, Dalma D; Nagy, Roland R; Németh, Adrienne A; Szilvássy, Judit J; Rovó, László L; Kiss, József Géza JG; Széll, Márta M

Publication Date: 2023-04-17

Variant appearance in text: GJB2: 71G>A; Trp24Ter

PubMed Link: 37108562

Variant Present in the following documents:

• Main text
• ijms-24-07401.pdf

View BVdb publication page

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Analysis of SLC26A4 Gene in Individuals with Non Syndromic Hearing Impairment in Relation with GJB2 Associated Mutations.

Avicenna Journal Of Medical Biotechnology

Rajalakshmi, Krishna K; Thirunavukkarasu, Jayakumar J; Vikraman, Meenu Ambika MA; Maruthy, Santosh S; Sylvester, Charles C; Kundapur, Rajesh R

Publication Date: 2023

Variant appearance in text: GJB2: W24X; rs104894396

PubMed Link: 37034890

Variant Present in the following documents:

• Main text
• AJMB-15-124.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GJB2: 71G>A; Trp24Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.

Genes

Riza, Anca-Lelia AL; Alkhzouz, Camelia C; Farcaș, Marius M; Pîrvu, Andrei A; Miclea, Diana D; Mihuț, Gheorghe G; Pleșea, Răzvan-Mihail RM; Ștefan, Delia D; Drodar, Mihaela M; Lazăr, Călin C; On Behalf Of The Hint Study, ; On Behalf Of The Fuse Study, ; Ioana, Mihai M; Popp, Radu R

Publication Date: 2022-12-26

Variant appearance in text: GJB2: 71G>A; W24X

PubMed Link: 36672810

Variant Present in the following documents:

• Main text
• genes-14-00069.pdf

View BVdb publication page

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Population Genetics of the European Roma-A Review.

Genes

Ena, Giacomo Francesco GF; Aizpurua-Iraola, Julen J; Font-Porterias, Neus N; Calafell, Francesc F; Comas, David D

Publication Date: 2022-11-08

Variant appearance in text: GJB2: W24X

PubMed Link: 36360305

Variant Present in the following documents:

• Main text
• genes-13-02068.pdf

View BVdb publication page

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Founder lineages in the Iberian Roma mitogenomes recapitulate the Roma diaspora and show the effects of demographic bottlenecks.

Scientific Reports

Aizpurua-Iraola, Julen J; Giménez, Aaron A; Carballo-Mesa, Annabel A; Calafell, Francesc F; Comas, David D

Publication Date: 2022-11-04

Variant appearance in text: GJB2: W24X

PubMed Link: 36333436

Variant Present in the following documents:

• 41598_2022_Article_23349.pdf

View BVdb publication page

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Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.

Frontiers In Genetics

Quaio, Caio Robledo D' Angioli Costa CRAC; Coelho, Antonio Victor Campos AVC; Moura, Livia Maria Silva LMS; Guedes, Rafael Lucas Muniz RLM; Chen, Kelin K; Ceroni, Jose Ricardo Magliocco JRM; Minillo, Renata Moldenhauer RM; Caraciolo, Marcel Pinheiro MP; Reis, Rodrigo de Souza RS; de Azevedo, Bruna Mascaro Cordeiro BMC; Nobrega, Maria Soares MS; Teixeira, Anne Caroline Barbosa ACB; Martinelli Lima, Matheus M; da Mota, Thamara Rayssa TR; da Matta, Marina Cadena MC; Colichio, Gabriela Borges Cherulli GBC; Roncalho, Aline Lulho AL; Ferreira, Ana Flavia Martinho AFM; Campilongo, Gabriela Pereira GP; Perrone, Eduardo E; Virmond, Luiza do Amaral LDA; Moreno, Carolina Araujo CA; Prota, Joana Rosa Marques JRM; de França, Marina M; Cervato, Murilo Castro MC; de Almeida, Tatiana Ferreira TF; de Oliveira Filho, Joao Bosco JB

Publication Date: 2022

Variant appearance in text: GJB2: 71G>A; Trp24Ter; rs104894396

PubMed Link: 36147510

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 5

View BVdb publication page

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Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.

Journal Of Clinical Immunology

Maccora, Ilaria I; Ramanan, Athimalaipet V AV; Wiseman, Daniel D; Marrani, Edoardo E; Mastrolia, Maria V MV; Simonini, Gabriele G

Publication Date: 2022-08-19

Variant appearance in text: GJB2: 71G>A; Trp24*

PubMed Link: 35984545

Variant Present in the following documents:

• 10875_2022_Article_1343.pdf

View BVdb publication page

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Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.

Scientific Reports

Kim, So Young SY; Kim, Bong Jik BJ; Oh, Doo Yi DY; Han, Jin Hee JH; Yi, Nayoung N; Kim, Namju Justin NJ; Park, Moo Kyun MK; Keum, Changwon C; Seo, Go Hun GH; Choi, Byung Yoon BY

Publication Date: 2022-07-21

Variant appearance in text: GJB2: 71G>A; Trp24*

PubMed Link: 35864128

Variant Present in the following documents:

• 41598_2022_16661_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of Genetic Variations in Connexin 26 ( GJB2 ) Gene among Nonsyndromic Hearing Impairment: Familial Study.

Global Medical Genetics

Hegde, Smita S; Hegde, Rajat R; Kulkarni, Suyamindra S SS; Das, Kusal K KK; Gai, Pramod B PB; Bulagouda, Rudragouda S RS

Publication Date: 2022-06

Variant appearance in text: GJB2: Trp24Ter; rs104894396

PubMed Link: 35707775

Variant Present in the following documents:

• Main text
• 10-1055-s-0042-1743257.pdf

View BVdb publication page

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Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.

Communications Biology

Praveen, Kavita K; Dobbyn, Lee L; Gurski, Lauren L; Ayer, Ariane H AH; Staples, Jeffrey J; Mishra, Shawn S; Bai, Yu Y; Kaufman, Alexandra A; Moscati, Arden A; Benner, Christian C; Chen, Esteban E; Chen, Siying S; Popov, Alexander A; Smith, Janell J; , ; , ; , ; Melander, Olle O; Jones, Marcus B MB; Marchini, Jonathan J; Balasubramanian, Suganthi S; Zambrowicz, Brian B; Drummond, Meghan C MC; Baras, Aris A; Abecasis, Goncalo R GR; Ferreira, Manuel A MA; Stahl, Eli A EA; Coppola, Giovanni G

Publication Date: 2022-06-03

Variant appearance in text: GJB2: 71G>A; Trp24*

PubMed Link: 35661827

Variant Present in the following documents:

• 42003_2022_3408_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Gene expression signatures in PCB-exposed Slovak children in relation to their environmental exposures and socio-physical characteristics.

Environmental Science And Pollution Research International

Mondal, Tanmoy T; Loffredo, Christopher A CA; Trnovec, Tomas T; Palkovicova Murinova, Lubica L; Noreen, Zarish Z; Nnanabu, Thomas T; Conka, Kamil K; Drobna, Beata B; Ghosh, Somiranjan S

Publication Date: 2022-08

Variant appearance in text: GJB2: W24X

PubMed Link: 35420343

Variant Present in the following documents:

• Main text
• 11356_2022_Article_20018.pdf

View BVdb publication page

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Age Estimate of GJB2-p.(Arg143Trp) Founder Variant in Hearing Impairment in Ghana, Suggests Multiple Independent Origins across Populations.

Biology

Aboagye, Elvis Twumasi ET; Adadey, Samuel Mawuli SM; Esoh, Kevin K; Jonas, Mario M; de Kock, Carmen C; Amenga-Etego, Lucas L; Awandare, Gordon A GA; Wonkam, Ambroise A

Publication Date: 2022-03-21

Variant appearance in text: GJB2: 71G>A

PubMed Link: 35336849

Variant Present in the following documents:

• Main text
• biology-11-00476.pdf

View BVdb publication page

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: GJB2: 71G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Discrimination of Single-Nucleotide Variants Based on an Allele-Specific Hybridization Chain Reaction and Smartphone Detection.

Acs Sensors

Lázaro, Ana A; Maquieira, Ángel Á; Tortajada-Genaro, Luis A LA

Publication Date: 2022-03-25

Variant appearance in text: GJB2: Trp24*

PubMed Link: 35188365

Variant Present in the following documents:

• se1c02220_si_001.pdf

View BVdb publication page

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The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: GJB2: 71G>A; Trp24Ter; rs104894396

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

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The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: GJB2: 71G>A; Trp24Ter; rs104894396

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

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Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.

Ear And Hearing

Tropitzsch, Anke A; Schade-Mann, Thore T; Gamerdinger, Philipp P; Dofek, Saskia S; Schulte, Björn B; Schulze, Martin M; Battke, Florian F; Fehr, Sarah S; Biskup, Saskia S; Heyd, Andreas A; Müller, Marcus M; Löwenheim, Hubert H; Vona, Barbara B; Holderried, Martin M

Publication Date: 2022

Variant appearance in text: GJB2: 71G>A

PubMed Link: 34753855

Variant Present in the following documents:

• Main text
• aud-43-1049.pdf
• aud-43-1049-s004.pdf

View BVdb publication page

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Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan.

Plos One

Kausar, Nabila N; Haque, Asma A; Masoud, Muhammad Shareef MS; Nahid, Nazia N; Ashfaq, Usman Ali UA; Waryah, Ali Muhammad AM; Bhatti, Rashid R; Qasim, Muhammad M

Publication Date: 2021

Variant appearance in text: GJB2: Trp24*

PubMed Link: 34695157

Variant Present in the following documents:

• Main text
• pone.0259083.pdf

View BVdb publication page

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The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Human Genetics

Usami, Shin-Ichi SI; Nishio, Shin-Ya SY

Publication Date: 2022-04

Variant appearance in text: GJB2: W24X

PubMed Link: 34599366

Variant Present in the following documents:

• 439_2021_Article_2371.pdf

View BVdb publication page

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Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.

Scientific Reports

Kim, So Young SY; Lee, Seungmin S; Seo, Go Hun GH; Kim, Bong Jik BJ; Oh, Doo Yi DY; Han, Jin Hee JH; Park, Moo Kyun MK; Lee, So Min SM; Kim, Bonggi B; Yi, Nayoung N; Kim, Namju Justin NJ; Koh, Doo Hyun DH; Hwang, Sohyun S; Keum, Changwon C; Choi, Byung Yoon BY

Publication Date: 2021-09-30

Variant appearance in text: GJB2: 71G>A; Trp24Ter

PubMed Link: 34593925

Variant Present in the following documents:

• 41598_2021_99007_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.

Journal Of Clinical Laboratory Analysis

Abbaspour Rodbaneh, Ehsan E; Panahi, Mohammad M; Rahimi, Bahareh B; Mokabber, Haleh H; Farajollahi, Reza R; Davarnia, Behzad B

Publication Date: 2021-11

Variant appearance in text: GJB2: 71G>A

PubMed Link: 34581455

Variant Present in the following documents:

• Main text
• JCLA-35-e24024.pdf

View BVdb publication page

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Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.

Molecular Genetics & Genomic Medicine

Mosrati, Mohamed Ali MA; Fadhlaoui-Zid, Karima K; Benammar-Elgaaied, Amel A; Gibriel, Abdullah Ahmed AA; Ben Said, Mariem M; Masmoudi, Saber S

Publication Date: 2021-10

Variant appearance in text: GJB2: Trp24*

PubMed Link: 34514748

Variant Present in the following documents:

• MGG3-9-e1810.pdf

View BVdb publication page

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Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.

Molecular Genetics & Genomic Medicine

Mosrati, Mohamed Ali MA; Fadhlaoui-Zid, Karima K; Benammar-Elgaaied, Amel A; Gibriel, Abdullah Ahmed AA; Ben Said, Mariem M; Masmoudi, Saber S

Publication Date: 2021-10

Variant appearance in text: GJB2: Trp24*

PubMed Link: 34514748

Variant Present in the following documents:

• MGG3-9-e1810.pdf

View BVdb publication page

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Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.

Neural Plasticity

Xie, Le L; Qiu, Yue Y; Jin, Yuan Y; Xu, Kai K; Bai, Xue X; Liu, Xiao-Zhou XZ; Wang, Xiao-Hui XH; Chen, Sen S; Sun, Yu Y

Publication Date: 2021

Variant appearance in text: GJB2: 71G>A

PubMed Link: 34335733

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.

European Journal Of Human Genetics : Ejhg

Narayanan, Dhanya Lakshmi DL; Udyawar, Divya D; Kaur, Parneet P; Sharma, Suvasini S; Suresh, Narayanaswamy N; Nampoothiri, Sheela S; do Rosario, Michelle C MC; Somashekar, Puneeth H PH; Rao, Lakshmi Priya LP; Kausthubham, Neethukrishna N; Majethia, Purvi P; Pande, Shruti S; Ramesh Bhat, Y Y; Shrikiran, Aroor A; Bielas, Stephanie S; Girisha, Katta Mohan KM; Shukla, Anju A

Publication Date: 2021-12

Variant appearance in text: N/A

PubMed Link: 34276053

Variant Present in the following documents:

View BVdb publication page

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Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.

European Journal Of Human Genetics : Ejhg

Narayanan, Dhanya Lakshmi DL; Udyawar, Divya D; Kaur, Parneet P; Sharma, Suvasini S; Suresh, Narayanaswamy N; Nampoothiri, Sheela S; do Rosario, Michelle C MC; Somashekar, Puneeth H PH; Rao, Lakshmi Priya LP; Kausthubham, Neethukrishna N; Majethia, Purvi P; Pande, Shruti S; Ramesh Bhat, Y Y; Shrikiran, Aroor A; Bielas, Stephanie S; Girisha, Katta Mohan KM; Shukla, Anju A

Publication Date: 2021-12

Variant appearance in text: N/A

PubMed Link: 34276053

Variant Present in the following documents:

View BVdb publication page

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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Patel, Mayher J MJ; DiStefano, Marina T MT; Oza, Andrea M AM; Hughes, Madeline Y MY; Wilcox, Emma H EH; Hemphill, Sarah E SE; Cushman, Brandon J BJ; Grant, Andrew R AR; Siegert, Rebecca K RK; Shen, Jun J; Chapin, Alex A; Boczek, Nicole J NJ; Schimmenti, Lisa A LA; Nara, Kiyomitsu K; Kenna, Margaret M; Azaiez, Hela H; Booth, Kevin T KT; Avraham, Karen B KB; Kremer, Hannie H; Griffith, Andrew J AJ; Rehm, Heidi L HL; Amr, Sami S SS; Tayoun, Ahmad N Abou ANA; ,

Publication Date: 2021-11

Variant appearance in text: GJB2: 71G>A

PubMed Link: 34230634

Variant Present in the following documents:

• NIHMS1734674-supplement-Supplementary_Table_1.xlsx, sheet 1

View BVdb publication page

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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Patel, Mayher J MJ; DiStefano, Marina T MT; Oza, Andrea M AM; Hughes, Madeline Y MY; Wilcox, Emma H EH; Hemphill, Sarah E SE; Cushman, Brandon J BJ; Grant, Andrew R AR; Siegert, Rebecca K RK; Shen, Jun J; Chapin, Alex A; Boczek, Nicole J NJ; Schimmenti, Lisa A LA; Nara, Kiyomitsu K; Kenna, Margaret M; Azaiez, Hela H; Booth, Kevin T KT; Avraham, Karen B KB; Kremer, Hannie H; Griffith, Andrew J AJ; Rehm, Heidi L HL; Amr, Sami S SS; Tayoun, Ahmad N Abou ANA; ,

Publication Date: 2021-11

Variant appearance in text: GJB2: 71G>A

PubMed Link: 34230634

Variant Present in the following documents:

• NIHMS1734674-supplement-Supplementary_Table_1.xlsx, sheet 1

View BVdb publication page

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Admixture Has Shaped Romani Genetic Diversity in Clinically Relevant Variants.

Frontiers In Genetics

Font-Porterias, Neus N; Giménez, Aaron A; Carballo-Mesa, Annabel A; Calafell, Francesc F; Comas, David D

Publication Date: 2021

Variant appearance in text: rs104894396

PubMed Link: 34220960

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population.

Journal Of Advanced Research

Souissi, Amal A; Ben Said, Mariem M; Ben Ayed, Ikhlas I; Elloumi, Ines I; Bouzid, Amal A; Mosrati, Mohamed Ali MA; Hasnaoui, Mehdi M; Belcadhi, Malek M; Idriss, Nabil N; Kamoun, Hassen H; Gharbi, Nourhene N; Gibriel, Abdullah A AA; Tlili, Abdelaziz A; Masmoudi, Saber S

Publication Date: 2021-07

Variant appearance in text: N/A

PubMed Link: 34194829

Variant Present in the following documents:

View BVdb publication page

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The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes-A Comprehensive Study of the GJB2/DFNB1 Region.

Genes

Safka Brozkova, Dana D; Uhrova Meszarosova, Anna A; Lassuthova, Petra P; Varga, Lukáš L; Staněk, David D; Borecká, Silvia S; Laštůvková, Jana J; Čejnová, Vlasta V; Rašková, Dagmar D; Lhota, Filip F; Gašperíková, Daniela D; Seeman, Pavel P

Publication Date: 2021-05-01

Variant appearance in text: GJB2: 71G>A

PubMed Link: 34062854

Variant Present in the following documents:

• genes-12-00684.pdf

View BVdb publication page

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Prevalence of GJB2 gene mutations correlated to presence of clinical and environmental risk factors in the etiology of congenital sensorineural hearing loss of the Romanian population.

Experimental And Therapeutic Medicine

Neagu, Alexandra A; Mocanu, Adela-Ioana AI; Bonciu, Alexandru A; Coadă, Gabriella G; Mocanu, Horia H

Publication Date: 2021-06

Variant appearance in text: N/A

PubMed Link: 33936269

Variant Present in the following documents:

View BVdb publication page

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Evaluation of the GJB2 and GJB6 Polymorphisms with Autosomal Recessive Nonsyndromic Hearing Loss in Iranian Population.

Iranian Journal Of Otorhinolaryngology

Ebrahimkhani, Somayeh S; Asaadi Tehrani, Golnaz G

Publication Date: 2021-03

Variant appearance in text: N/A

PubMed Link: 33912482

Variant Present in the following documents:

View BVdb publication page

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Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran.

Iranian Journal Of Public Health

Aliazami, Farnoush F; Farhud, Dariush D; Zarif-Yeganeh, Marjan M; Salehi, Siamak S; Hosseinipour, Azam A; Sasanfar, Roxana R; Eslami, Maryam M

Publication Date: 2020-11

Variant appearance in text: GJB2: W24X

PubMed Link: 33708733

Variant Present in the following documents:

• Main text
• IJPH-49-2128.pdf

View BVdb publication page

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Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.

Genome Medicine

Macken, William L WL; Godwin, Annie A; Wheway, Gabrielle G; Stals, Karen K; Nazlamova, Liliya L; Ellard, Sian S; Alfares, Ahmed A; Aloraini, Taghrid T; AlSubaie, Lamia L; Alfadhel, Majid M; Alajaji, Sulaiman S; Wai, Htoo A HA; Self, Jay J; Douglas, Andrew G L AGL; Kao, Alexander P AP; Guille, Matthew M; Baralle, Diana D

Publication Date: 2021-02-25

Variant appearance in text: GJB2: 71G>A

PubMed Link: 33632302

Variant Present in the following documents:

• Main text
• 13073_2021_Article_850.pdf

View BVdb publication page

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Molecular alteration in the Gap Junction Beta 2 (GJB2) gene associated with non-syndromic sensorineural hearing impairment.

Intractable & Rare Diseases Research

Hegde, Smita S; Hegde, Rajat R; Kulkarni, Suyamindra S SS; Das, Kusal K KK; Gai, Pramod B PB; Bulgouda, Rudregouda R

Publication Date: 2021-02

Variant appearance in text: GJB2: 71G>A

PubMed Link: 33614373

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics of Hearing Impairment in North-Eastern Romania-A Cost-Effective Improved Diagnosis and Literature Review.

Genes

Resmerita, Irina I; Cozma, Romica Sebastian RS; Popescu, Roxana R; Radulescu, Luminita Mihaela LM; Panzaru, Monica Cristina MC; Butnariu, Lacramioara Ionela LI; Caba, Lavinia L; Ilie, Ovidiu-Dumitru OD; Gavril, Eva-Cristiana EC; Gorduza, Eusebiu Vlad EV; Rusu, Cristina C

Publication Date: 2020-12-15

Variant appearance in text: GJB2: 71G>A; W24X; rs104894396

PubMed Link: 33333757

Variant Present in the following documents:

• Main text

View BVdb publication page

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Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

European Journal Of Human Genetics : Ejhg

Publication Date: 2020-12

Variant appearance in text: GJB2: 71G>A

PubMed Link: 33262486

Variant Present in the following documents:

• Main text

View BVdb publication page

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NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

Bmc Medical Genetics

Singh, Kanika K; Bijarnia-Mahay, Sunita S; Ramprasad, V L VL; Puri, Ratna Dua RD; Nair, Sandhya S; Sharda, Sheetal S; Saxena, Renu R; Kohli, Sudha S; Kulshreshtha, Samarth S; Ganguli, Indrani I; Gujral, Kanwal K; Verma, Ishwar C IC

Publication Date: 2020-11-02

Variant appearance in text: GJB2: 71G>A; Trp24Ter

PubMed Link: 33138774

Variant Present in the following documents:

• Main text

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Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.

Life (Basel, Switzerland)

Adadey, Samuel Mawuli SM; Wonkam-Tingang, Edmond E; Twumasi Aboagye, Elvis E; Nayo-Gyan, Daniel Wonder DW; Boatemaa Ansong, Maame M; Quaye, Osbourne O; Awandare, Gordon A GA; Wonkam, Ambroise A

Publication Date: 2020-10-28

Variant appearance in text: GJB2: 71G>A; W24X

PubMed Link: 33126609

Variant Present in the following documents:

• Main text

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Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population.

Genes

Morgan, Anna A; Lenarduzzi, Stefania S; Spedicati, Beatrice B; Cattaruzzi, Elisabetta E; Murru, Flora Maria FM; Pelliccione, Giulia G; Mazzà, Daniela D; Zollino, Marcella M; Graziano, Claudio C; Ambrosetti, Umberto U; Seri, Marco M; Faletra, Flavio F; Girotto, Giorgia G

Publication Date: 2020-10-22

Variant appearance in text: GJB2: 71G>A

PubMed Link: 33105617

Variant Present in the following documents:

• Main text
• genes-11-01237.pdf

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Clinical impact of genomic testing in patients with suspected monogenic kidney disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Jayasinghe, Kushani K; Stark, Zornitza Z; Kerr, Peter G PG; Gaff, Clara C; Martyn, Melissa M; Whitlam, John J; Creighton, Belinda B; Donaldson, Elizabeth E; Hunter, Matthew M; Jarmolowicz, Anna A; Johnstone, Lilian L; Krzesinski, Emma E; Lunke, Sebastian S; Lynch, Elly E; Nicholls, Kathleen K; Patel, Chirag C; Prawer, Yael Y; Ryan, Jessica J; See, Emily J EJ; Talbot, Andrew A; Trainer, Alison A; Tytherleigh, Rigan R; Valente, Giulia G; Wallis, Mathew M; Wardrop, Louise L; West, Kirsty H KH; White, Susan M SM; Wilkins, Ella E; Mallett, Andrew J AJ; Quinlan, Catherine C

Publication Date: 2021-01

Variant appearance in text: GJB2: 71G>A

PubMed Link: 32939031

Variant Present in the following documents:

• 41436_2020_963_MOESM1_ESM.pdf

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Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant.

Orphanet Journal Of Rare Diseases

Safka Brozkova, Dana D; Varga, Lukas L; Uhrova Meszarosova, Anna A; Slobodova, Zuzana Z; Skopkova, Martina M; Soltysova, Andrea A; Ficek, Andrej A; Jencik, Jan J; Lastuvkova, Jana J; Gasperikova, Daniela D; Seeman, Pavel P

Publication Date: 2020-08-26

Variant appearance in text: GJB2: 71G>A; W24*; rs104894396

PubMed Link: 32847582

Variant Present in the following documents:

• Main text

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Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation.

Neural Plasticity

Guo, Chang C; Huang, Sha-Sha SS; Yuan, Yong-Yi YY; Zhou, Ying Y; Wang, Ning N; Kang, Dong-Yang DY; Yang, Su-Yan SY; Zhang, Xin X; Gao, Xue X; Dai, Pu P

Publication Date: 2020

Variant appearance in text: GJB2: 71G>A

PubMed Link: 32802038

Variant Present in the following documents:

• Main text

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High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect.

Genes

Zytsar, Marina V MV; Bady-Khoo, Marita S MS; Danilchenko, Valeriia Yu VY; Maslova, Ekaterina A EA; Barashkov, Nikolay A NA; Morozov, Igor V IV; Bondar, Alexander A AA; Posukh, Olga L OL

Publication Date: 2020-07-21

Variant appearance in text: GJB2: 71G>A; Trp24*

PubMed Link: 32708339

Variant Present in the following documents:

• Main text
• genes-11-00833.pdf

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A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.

Bmc Medical Genetics

Sarmadi, Akram A; Nasrniya, Samane S; Soleimani Farsani, Maryam M; Narrei, Sina S; Nouri, Zahra Z; Sepehrnejad, Mahsa M; Nilforoush, Mohammad Hussein MH; Abtahi, Hamidreza H; Tabatabaiefar, Mohammad Amin MA

Publication Date: 2020-06-09

Variant appearance in text: N/A

PubMed Link: 32517708

Variant Present in the following documents:

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: GJB2: 71G>A; Trp24*

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

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The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas.

The Journal Of International Advanced Otology

Küçük Kurtulgan, Hande H; Altuntaş, Emine Elif EE; Yıldırım, Malik Ejder ME; Özdemir, Öztürk Ö; Bağcı, Binnur B; Sezgin, İlhan İ

Publication Date: 2019-12

Variant appearance in text: N/A

PubMed Link: 31846914

Variant Present in the following documents:

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Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.

European Journal Of Human Genetics : Ejhg

Downie, Lilian L; Halliday, Jane J; Burt, Rachel R; Lunke, Sebastian S; Lynch, Elly E; Martyn, Melissa M; Poulakis, Zeffie Z; Gaff, Clara C; Sung, Valerie V; Wake, Melissa M; Hunter, Matthew F MF; Saunders, Kerryn K; Rose, Elizabeth E; Lewis, Sharon S; Jarmolowicz, Anna A; Phelan, Dean D; Rehm, Heidi L HL; , ; Amor, David J DJ

Publication Date: 2020-05

Variant appearance in text: GJB2: 71G>A; Trp24*

PubMed Link: 31827275

Variant Present in the following documents:

• Main text

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: GJB2: 71G>A; W24X; rs104894396

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 16
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 13
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

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Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: GJB2: 71G>A; Trp24*

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 4

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First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.

Turkish Archives Of Otorhinolaryngology

Özyılmaz, Berk B; Mercan, Gül Caner GC; Kırbıyık, Özgür Ö; Özdemir, Taha Reşid TR; Özkara, Samira S; Kaya, Özge Özer ÖÖ; Kutbay, Yaşar Bekir YB; Erdoğan, Kadri Murat KM; Güvenç, Merve Saka MS; Koç, Altuğ A

Publication Date: 2019-09

Variant appearance in text: GJB2: 71G>A

PubMed Link: 31620696

Variant Present in the following documents:

• Main text

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: GJB2: 71G>A; Trp24*; rs104894396

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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