Publications:

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Hearing loss in Africa: current genetic profile.

Human Genetics

Adadey, Samuel Mawuli SM; Wonkam-Tingang, Edmond E; Aboagye, Elvis Twumasi ET; Quaye, Osbourne O; Awandare, Gordon A GA; Wonkam, Ambroise A

Publication Date: 2022-04

Variant appearance in text: KCNQ1: 1343dupC; Glu449Argfs*14

PubMed Link: 34609590

Variant Present in the following documents:

• Main text
• 439_2021_Article_2376.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: KCNQ1: 1343dupC

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

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

Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR

Publication Date: 2021-01

Variant appearance in text: KCNQ1: 1343dupC; Glu449Argfs*14

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome.

Iranian Journal Of Basic Medical Sciences

Amirian, Azam A; Dalili, Seyed Mohammad SM; Zafari, Zahra Z; Saber, Siamak S; Karimipoor, Morteza M; Akbari, Vahid V; Fazelifar, Amir Farjam AF; Zeinali, Sirous S

Publication Date: 2018-01

Variant appearance in text: KCNQ1: 1338insC

PubMed Link: 29372044

Variant Present in the following documents:

• Main text
• IJBMS-21-108.pdf

View BVdb publication page

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Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report.

Journal Of Medical Case Reports

Adadi, N N; Lahrouchi, N N; Bouhouch, R R; Fellat, I I; Amri, R R; Alders, M M; Sefiani, A A; Bezzina, C C; Ratbi, I I

Publication Date: 2017-04-02

Variant appearance in text: KCNQ1: 1343dupC

PubMed Link: 28364778

Variant Present in the following documents:

• Main text
• 13256_2017_Article_1243.pdf

View BVdb publication page

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Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort.

The Journal Of Pediatrics

Chang, Ruey-Kang R RK; Lan, Yueh-Tze YT; Silka, Michael J MJ; Morrow, Hallie H; Kwong, Alan A; Smith-Lang, Janna J; Wallerstein, Robert R; Lin, Henry J HJ

Publication Date: 2014-03

Variant appearance in text: KCNQ1: 1343dupC; Glu449Argfs*14

PubMed Link: 24388587

Variant Present in the following documents:

• Main text

View BVdb publication page

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