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| Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss O Diaz-Horta, D Duman, J Foster, A Sırmacı, M Gonzalez, N Mahdieh, ... PloS one 7 (11), e50628, 2012 | 170 | 2012 |
| Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss V Migliosi, S Modamio-Høybjør, MA Moreno-Pelayo, ... Journal of medical genetics 39 (7), 502-506, 2002 | 162 | 2002 |
| Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort G Bademci, J Foster, N Mahdieh, M Bonyadi, D Duman, FB Cengiz, ... Genetics in Medicine 18 (4), 364-371, 2016 | 152 | 2016 |
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| Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients J Alonso, H Frayle, I Menéndez, A López, P García‐Miguel, J Abelairas, ... Human mutation 25 (1), 99-99, 2005 | 36 | 2005 |
| An Amino Acid Deletion in SZT2 in a Family with Non-Syndromic Intellectual Disability M Falcone, KO Yariz, DB Ross, J Foster, I Menendez, M Tekin PLoS One 8 (12), e82810, 2013 | 31 | 2013 |
| Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation I Menendez, C Carranza, M Herrera, N Marroquin, II Joseph Foster, ... Clinical case reports 5 (4), 376, 2017 | 29 | 2017 |
| Unique spectrum of GJB2 mutations in Mexico M de la Luz Arenas-Sordo, I Menendez, E Hernández-Zamora, A Sirmaci, ... International journal of pediatric otorhinolaryngology 76 (11), 1678-1680, 2012 | 28 | 2012 |
| Novel EYA1 variants causing Branchio-oto-renal syndrome KD Klingbeil, CM Greenland, S Arslan, AL Paneque, H Gurkan, SD Ulusal, ... International journal of pediatric otorhinolaryngology 98, 59-63, 2017 | 27 | 2017 |
| A Mayan founder mutation is a common cause of deafness in Guatemala C Carranza, I Menendez, M Herrera, P Castellanos, C Amado, ... Clinical genetics 89 (4), 461-465, 2016 | 25 | 2016 |
| Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil GN Manzoli, G Bademci, AX Acosta, TM Félix, FB Cengiz, J Foster, ... Annals of human genetics 80 (6), 327-331, 2016 | 20 | 2016 |
| Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations G Bademci, AO Lasisi, KO Yariz, P Montenegro, I Menendez, R Vinueza, ... BMC medical genetics 16, 1-5, 2015 | 18 | 2015 |
| Pathogenic validation of unique germline intronic variants of RB1 in retinoblastoma patients using minigenes A Gámez‐Pozo, I Palacios, M Kontic, I Menéndez, I Camino, ... Human mutation 28 (12), 1245-1245, 2007 | 17 | 2007 |
| Registro de câncer de mama hereditário NR Peón, MTA Bañuelos, I Menéndez, I Ramires Revista cubana de oncologia 16 (1), 48-53, 2000 | 16 | 2000 |
| Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort FB Cengiz, R Yilmazer, L Olgun, L Sennaroglu, T Kirazli, H Alper, Y Olgun, ... International journal of pediatric otorhinolaryngology 101, 167-171, 2017 | 15 | 2017 |
| Sorderas neurosensoriales no sindrómicas: Análisis de la herencia en 10 familias I Menéndez, M Ponce de León, B Carrillo, JL Gil Revista Cubana de Pediatría 70 (2), 92-99, 1998 | 12 | 1998 |
| Comparación entre las normativas de la SEPAR de 1993 y 2002 en la lectura de los eventos respiratorios de las mismas polisomnografías JI Aguirregomoscorta, L Altube, I Menéndez, A Romaní, LV Basualdo, ... Archivos de Bronconeumología 41 (12), 649-653, 2005 | 10 | 2005 |
| Mutaciones del gen de la conexina 26 (GJB2) en familias cubanas con sorderas no sindrómicas autosómicas recesivas I Menéndez, I del Castillo, B Carrillo, M Villamar, M Ponce de León, ... Revista Cubana de Investigaciones Biomédicas 20 (3), 167-172, 2001 | 10 | 2001 |
