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Regie Lyn P. Santos-Cortez

TitleAssociate Professor
InstitutionUniversity of Colorado Denver - Anschutz Medical Campus

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    R01DC015004     (SANTOS-CORTEZ, REGIE LYN)Feb 10, 2016 - Jan 31, 2021
    Otitis Media Susceptibility and Middle Ear Microbial Shifts due to Gene Variants
    Role: Principal Investigator

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Santos-Cortez RLP, Chiong CM, Frank DN, Ryan AF, Giese APJ, Bootpetch Roberts T, Daly KA, Steritz MJ, Szeremeta W, Pedro M, Pine H, Yarza TKL, Scholes MA, Llanes EGDV, Yousaf S, Friedman N, Tantoco MLC, Wine TM, Labra PJ, Benoit J, Ruiz AG, de la Cruz RAR, Greenlee C, Yousaf A, Cardwell J, Nonato RMA, Ray D, Ong KMC, So E, Robertson CE, Dinwiddie J, Lagrana-Villagracia SM, Gubbels SP, Shaikh RS, Cass SP, Einarsdottir E, Lee NR, Schwartz DA, Gloria-Cruz TLI, Bamshad MJ, Yang IV, Kere J, Abes GT, Prager JD, Riazuddin S, Chan AL, Yoon PJ, Nickerson DA, Cutiongco-de la Paz EM, Streubel SO, Reyes-Quintos MRT, Jenkins HA, Mattila P, Chan KH, Mohlke KL, Leal SM, Hafrén L, Chonmaitree T, Sale MM, Ahmed ZM. FUT2 Variants Confer Susceptibility to Familial Otitis Media. Am J Hum Genet. 2018 Nov 01; 103(5):679-690. PMID: 30401457.
      View in: PubMed
    2. Ahmad F, Ahmed I, Nasir A, Umair M, Shahzad S, Muhammad D, Santos-Cortez RLP, Leal SM, Ahmad W. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family. Eur J Dermatol. 2018 Apr 01; 28(2):209-216. PMID: 29611532.
      View in: PubMed
    3. Shah K, Mehmood S, Jan A, Abbe I, Hussain Ali R, Khan A, Chishti MS, Lee K, Ahmad F, Ansar M, Shahzad S, Nickerson DA, Bamshad MJ, Coucke PJ, Santos-Cortez RLP, Spritz RA, Leal SM, Ahmad W. Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. Int J Dermatol. 2017 Dec; 56(12):1406-1413. PMID: 29130490.
      View in: PubMed
    4. Khan S, Ansar M, Khan AK, Shah K, Muhammad N, Shahzad S, Nickerson DA, Bamshad MJ, Santos-Cortez RLP, Leal SM, Ahmad W. A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family. Br J Dermatol. 2018 Feb; 178(2):556-558. PMID: 28504827.
      View in: PubMed
    5. Santos-Cortez RLP, Hu Y, Sun F, Benahmed-Miniuk F, Tao J, Kanaujiya JK, Ademola S, Fadiora S, Odesina V, Nickerson DA, Bamshad MJ, Olaitan PB, Oluwatosin OM, Leal SM, Reichenberger EJ. Identification of ASAH1 as a susceptibility gene for familial keloids. Eur J Hum Genet. 2017 10; 25(10):1155-1161. PMID: 28905881.
      View in: PubMed
    6. Santos-Cortez RL, Hutchinson DS, Ajami NJ, Reyes-Quintos MR, Tantoco ML, Labra PJ, Lagrana SM, Pedro M, Llanes EG, Gloria-Cruz TL, Chan AL, Cutiongco-de la Paz EM, Belmont JW, Chonmaitree T, Abes GT, Petrosino JF, Leal SM, Chiong CM. Middle ear microbiome differences in indigenous Filipinos with chronic otitis media due to a duplication in the A2ML1 gene. Infect Dis Poverty. 2016 Nov 01; 5(1):97. PMID: 27799062.
      View in: PubMed
    7. Rehman AU, Bird JE, Faridi R, Shahzad M, Shah S, Lee K, Khan SN, Imtiaz A, Ahmed ZM, Riazuddin S, Santos-Cortez RL, Ahmad W, Leal SM, Riazuddin S, Friedman TB. Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. Hum Mutat. 2016 10; 37(10):991-1003. PMID: 27375115.
      View in: PubMed
    8. Santos-Cortez RL, Reyes-Quintos MR, Tantoco ML, Abbe I, Llanes EG, Ajami NJ, Hutchinson DS, Petrosino JF, Padilla CD, Villarta RL, Gloria-Cruz TL, Chan AL, Cutiongco-de la Paz EM, Chiong CM, Leal SM, Abes GT. Genetic and Environmental Determinants of Otitis Media in an Indigenous Filipino Population. Otolaryngol Head Neck Surg. 2016 11; 155(5):856-862. PMID: 27484237.
      View in: PubMed
    9. van 't Hof FN, Ruigrok YM, Lee CH, Ripke S, Anderson G, de Andrade M, Baas AF, Blankensteijn JD, Böttinger EP, Bown MJ, Broderick J, Bijlenga P, Carrell DS, Crawford DC, Crosslin DR, Ebeling C, Eriksson JG, Fornage M, Foroud T, von Und Zu Fraunberg M, Friedrich CM, Gaál EI, Gottesman O, Guo DC, Harrison SC, Hernesniemi J, Hofman A, Inoue I, Jääskeläinen JE, Jones GT, Kiemeney LA, Kivisaari R, Ko N, Koskinen S, Kubo M, Kullo IJ, Kuivaniemi H, Kurki MI, Laakso A, Lai D, Leal SM, Lehto H, LeMaire SA, Low SK, Malinowski J, McCarty CA, Milewicz DM, Mosley TH, Nakamura Y, Nakaoka H, Niemelä M, Pacheco J, Peissig PL, Pera J, Rasmussen-Torvik L, Ritchie MD, Rivadeneira F, van Rij AM, Santos-Cortez RL, Saratzis A, Slowik A, Takahashi A, Tromp G, Uitterlinden AG, Verma SS, Vermeulen SH, Wang GT, Han B, Rinkel GJ, de Bakker PI. Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms. J Am Heart Assoc. 2016 07 14; 5(7). PMID: 27418160.
      View in: PubMed
    10. Lebeko K, Sloan-Heggen CM, Noubiap JJ, Dandara C, Kolbe DL, Ephraim SS, Booth KT, Azaiez H, Santos-Cortez RL, Leal SM, Smith RJ, Wonkam A. Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families. Clin Genet. 2016 09; 90(3):288-90. PMID: 27246798.
      View in: PubMed
    11. Shah K, Ali RH, Ansar M, Lee K, Chishti MS, Abbe I, Li B, Smith JD, Nickerson DA, Shendure J, Coucke PJ, Steyaert W, Bamshad MJ, Santos-Cortez RLP, Leal SM, Ahmad W. Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. BMC Med Genet. 2016 Feb 16; 17:13. PMID: 26880286; PMCID: PMC4754937.
    12. Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Zhu LY, Peters AM, Duan XY, Bamshad MJ, Shendure J, Nickerson DA, Santos-Cortez RL, Dong X, Leal SM, Majesky MW, Swindell EC, Jamrich M, Milewicz DM. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. J Clin Invest. 2016 Mar 01; 126(3):948-61. PMID: 26854927; PMCID: PMC4767350.
    13. Santos-Cortez RL, Faridi R, Rehman AU, Lee K, Ansar M, Wang X, Morell RJ, Isaacson R, Belyantseva IA, Dai H, Acharya A, Qaiser TA, Muhammad D, Ali RA, Shams S, Hassan MJ, Shahzad S, Raza SI, Bashir ZE, Smith JD, Nickerson DA, Bamshad MJ, Riazuddin S, Ahmad W, Friedman TB, Leal SM. Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. Am J Hum Genet. 2016 Feb 04; 98(2):331-8. PMID: 26805784; PMCID: PMC4746333.
    14. Regalado ES, Guo DC, Santos-Cortez RL, Hostetler E, Bensend TA, Pannu H, Estrera A, Safi H, Mitchell AL, Evans JP, Leal SM, Bamshad M, Shendure J, Nickerson DA, Milewicz DM. Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. Clin Genet. 2016 06; 89(6):719-23. PMID: 26621581.
      View in: PubMed
    15. Guo DC, Regalado ES, Gong L, Duan X, Santos-Cortez RL, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera A, Safi HJ, Leal SM, Bamshad MJ, Shendure J, Nickerson DA, Jondeau G, Boileau C, Milewicz DM. LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. Circ Res. 2016 Mar 18; 118(6):928-34. PMID: 26838787; PMCID: PMC4839295 [Available on 03/18/17].
    16. Ansar M, Jan A, Santos-Cortez RL, Wang X, Suliman M, Acharya A, Habib R, Abbe I, Ali G, Lee K, Smith JD, Nickerson DA, Shendure J, Bamshad MJ, Ahmad W, Leal SM. Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability. Eur J Hum Genet. 2016 08; 24(8):1223-7. PMID: 26695873.
      View in: PubMed
    17. Ahmad F, Ansar M, Mehmood S, Izoduwa A, Lee K, Nasir A, Abrar M, Mehmood S, Ullah A, Aziz A, Smith JD, Shendure J, Bamshad MJ, Nicekrson DA, Santos-Cortez RL, Leal SM, Ahmad W. A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families. J Eur Acad Dermatol Venereol. 2016 Dec; 30(12):e210-e213. PMID: 26691440.
      View in: PubMed
    18. Ullah R, Ansar M, Durrani ZU, Lee K, Santos-Cortez RL, Muhammad D, Ali M, Zia M, Ayub M, Khan S, Smith JD, Nickerson DA, Shendure J, Bamshad M, Leal SM, Ahmad W. Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. Int J Dermatol. 2016 May; 55(5):524-30. PMID: 26578203.
      View in: PubMed
    19. Ansar M, Raza SI, Lee K, Shahi S, Acharya A, Dai H, Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Santos-Cortez RL, Ahmad W, Leal SM. A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. J Med Genet. 2015 Oct; 52(10):676-80. PMID: 26160856.
      View in: PubMed
    20. Santos-Cortez RL, Chiong CM, Reyes-Quintos MR, Tantoco ML, Wang X, Acharya A, Abbe I, Giese AP, Smith JD, Allen EK, Li B, Cutiongco-de la Paz EM, Garcia MC, Llanes EG, Labra PJ, Gloria-Cruz TL, Chan AL, Wang GT, Daly KA, Shendure J, Bamshad MJ, Nickerson DA, Patel JA, Riazuddin S, Sale MM, Chonmaitree T, Ahmed ZM, Abes GT, Leal SM. Rare A2ML1 variants confer susceptibility to otitis media. Nat Genet. 2015 Aug; 47(8):917-20. PMID: 26121085; PMCID: PMC4528370.
    21. Ansar M, Santos-Cortez RL, Saqib MA, Zulfiqar F, Lee K, Ashraf NM, Ullah E, Wang X, Sajid S, Khan FS, Amin-ud-Din M, Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Hameed A, Riazuddin S, Ahmed ZM, Ahmad W, Leal SM. Mutation of ATF6 causes autosomal recessive achromatopsia. Hum Genet. 2015 Sep; 134(9):941-50. PMID: 26063662; PMCID: PMC4529463.
    22. Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C, Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Shum AK. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015 Jun; 47(6):654-60. PMID: 25894502; PMCID: PMC4513663.
    23. Guo DC, Gong L, Regalado ES, Santos-Cortez RL, Zhao R, Cai B, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A, Willing M, Jondeau G, Boileau C, Pannu H, Moran R, Debacker J, Bamshad MJ, Shendure J, Nickerson DA, Leal SM, Raman CS, Swindell EC, Milewicz DM. MAT2A mutations predispose individuals to thoracic aortic aneurysms. Am J Hum Genet. 2015 Jan 08; 96(1):170-7. PMID: 25557781; PMCID: PMC4289682.
    24. Rehman AU, Santos-Cortez RL, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A, Riazuddin S, Smith JD, Wang GT, Ahmed ZM, Gul K, Shearer AE, Smith RJ, Shendure J, Bamshad MJ, Nickerson DA, Hinnant J, Khan SN, Fisher RA, Ahmad W, Friderici KH, Riazuddin S, Friedman TB, Wilch ES, Leal SM. Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet. 2015 Sep; 23(9):1207-15. PMID: 25491636.
      View in: PubMed
    25. Cecchi AC, Guo D, Ren Z, Flynn K, Santos-Cortez RL, Leal SM, Wang GT, Regalado ES, Steinberg GK, Shendure J, Bamshad MJ, Grotta JC, Nickerson DA, Pannu H, Milewicz DM. RNF213 rare variants in an ethnically diverse population with Moyamoya disease. Stroke. 2014 Nov; 45(11):3200-7. PMID: 25278557; PMCID: PMC4420622.
    26. Wang GT, Li B, Santos-Cortez RP, Peng B, Leal SM. Power analysis and sample size estimation for sequence-based association studies. Bioinformatics. 2014 Aug 15; 30(16):2377-8. PMID: 24778108; PMCID: PMC4133582.
    27. Santos-Cortez RL, Lee K, Giese AP, Ansar M, Amin-Ud-Din M, Rehn K, Wang X, Aziz A, Chiu I, Hussain Ali R, Smith JD, Shendure J, Bamshad M, Nickerson DA, Ahmed ZM, Ahmad W, Riazuddin S, Leal SM. Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. Hum Mol Genet. 2014 Jun 15; 23(12):3289-98. PMID: 24482543; PMCID: PMC4030782.
    28. Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI, Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, Griffith AJ, Ahmad W, Riazuddin S, Leal SM, Friedman TB. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Am J Hum Genet. 2014 Jan 02; 94(1):144-52. PMID: 24387994; PMCID: PMC3882911.
    29. He Z, O'Roak BJ, Smith JD, Wang G, Hooker S, Santos-Cortez RL, Li B, Kan M, Krumm N, Nickerson DA, Shendure J, Eichler EE, Leal SM. Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. Am J Hum Genet. 2014 Jan 02; 94(1):33-46. PMID: 24360806; PMCID: PMC3882934.
    30. Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA, Kim C, Milewicz DM. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet. 2013 Aug 08; 93(2):398-404. PMID: 23910461.
      View in: PubMed
    31. Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 08; 93(2):197-210. PMID: 23810381.
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    32. Santos-Cortez RL, Lee K, Azeem Z, Antonellis PJ, Pollock LM, Khan S, Andrade-Elizondo PB, Chiu I, Adams MD, Basit S, Smith JD, Nickerson DA, McDermott BM, Ahmad W, Leal SM. Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet. 2013 Jul 11; 93(1):132-40. PMID: 23768514; PMCID: PMC3710764.
    33. Lee K, Chiu I, Santos-Cortez RL, Basit S, Khan S, Azeem Z, Andrade PB, Kim SS, Ahmad W, Leal SM. Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families. Clin Genet. 2013 Sep; 84(3):294-6. PMID: 23173898.
      View in: PubMed
    34. Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB, Jondeau G, Milewicz DM. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet. 2012 Jul 08; 44(8):916-21. PMID: 22772371.
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    35. Lee K, Ansar M, Andrade PB, Khan B, Santos-Cortez RL, Ahmad W, Leal SM. Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss. Am J Med Genet A. 2012 Feb; 158A(2):315-21. PMID: 22246673; PMCID: PMC3276114.
    36. Lee K, Amin Ud Din M, Ansar M, Santos-Cortez RL, Ahmad W, Leal SM. Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene. Genet Res Int. 2011; 2011:294675. PMID: 22567349; PMCID: PMC3335613.
    37. Lee K, Khan S, Ansar M, Santos-Cortez RL, Ahmad W, Leal SM. A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families. Genet Res Int. 2011; 2011:368915. PMID: 22567352; PMCID: PMC3335572.
    38. Ansar M, Lee K, Naqvi SK, Andrade PB, Basit S, Santos-Cortez RL, Ahmad W, Leal SM. A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13. J Hum Genet. 2011 Dec; 56(12):866-8. PMID: 21937999; PMCID: PMC3245365.
    39. Regalado ES, Guo DC, Villamizar C, Avidan N, Gilchrist D, McGillivray B, Clarke L, Bernier F, Santos-Cortez RL, Leal SM, Bertoli-Avella AM, Shendure J, Rieder MJ, Nickerson DA, Milewicz DM. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res. 2011 Sep 02; 109(6):680-6. PMID: 21778426; PMCID: PMC4115811.
    40. Ali G, Lee K, Andrade PB, Basit S, Santos-Cortez RL, Chen L, Jelani M, Ansar M, Ahmad W, Leal SM. Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3. Hum Hered. 2011; 71(2):106-12. PMID: 21734401; PMCID: PMC3136383.
    41. Lee K, Khan S, Islam A, Ansar M, Andrade PB, Kim S, Santos-Cortez RL, Ahmad W, Leal SM. Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clin Genet. 2012 Jul; 82(1):56-63. PMID: 21534946; PMCID: PMC3374056.
    42. Basit S, Lee K, Habib R, Chen L, Santos-Cortez RL, Azeem Z, Andrade P, Ansar M, Ahmad W, Leal SM. DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2. Hum Genet. 2011 Apr; 129(4):379-85. PMID: 21181198; PMCID: PMC3312604.
    43. Santos RL, Häfner FM, Huygen PL, Linder TE, Schinzel AA, Spillmann T, Leal SM. Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment. Audiol Neurootol. 2006; 11(5):269-75. PMID: 16717440; PMCID: PMC2923580.
    44. Santos RL, Hassan MJ, Sikandar S, Lee K, Ali G, Martin PE, Wambangco MA, Ahmad W, Leal SM. DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2. Hum Genet. 2006 Aug; 120(1):85-92. PMID: 16703383; PMCID: PMC2909094.
    45. Tariq A, Santos RL, Khan MN, Lee K, Hassan MJ, Ahmad W, Leal SM. Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32. J Mol Med (Berl). 2006 Jun; 84(6):484-90. PMID: 16596430; PMCID: PMC2909102.
    46. Ali G, Santos RL, John P, Wambangco MA, Lee K, Ahmad W, Leal S. The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23. Clin Genet. 2006 May; 69(5):429-33. PMID: 16650082; PMCID: PMC2909107.
    47. Santos RL, Zillikens MC, Rivadeneira FR, Pols HA, Oostra BA, van Duijn CM, Aulchenko YS. Heritability of fasting glucose levels in a young genetically isolated population. Diabetologia. 2006 Apr; 49(4):667-72. PMID: 16465511.
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    48. Santos RL, El-Shanti H, Sikandar S, Lee K, Bhatti A, Yan K, Chahrour MH, McArthur N, Pham TL, Mahasneh AA, Ahmad W, Leal SM. Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment. J Mol Med (Berl). 2006 Mar; 84(3):226-31. PMID: 16389551; PMCID: PMC2909111.
    49. Hassan MJ, Santos RL, Rafiq MA, Chahrour MH, Pham TL, Wajid M, Hijab N, Wambangco M, Lee K, Ansar M, Yan K, Ahmad W, Leal SM. A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3. Hum Genet. 2006 Jan; 118(5):605-10. PMID: 16261342; PMCID: PMC2909103.
    50. Santos RL, Wajid M, Khan MN, McArthur N, Pham TL, Bhatti A, Lee K, Irshad S, Mir A, Yan K, Chahrour MH, Ansar M, Ahmad W, Leal SM. Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment. Hum Mutat. 2005 Oct; 26(4):396. PMID: 16134132; PMCID: PMC2909098.
    51. Irshad S, Santos RL, Muhammad D, Lee K, McArthur N, Haque S, Ahmad W, Leal SM. Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2. Clin Genet. 2005 Sep; 68(3):262-7. PMID: 16098016; PMCID: PMC2910366.
    52. Aslam M, Wajid M, Chahrour MH, Ansar M, Haque S, Pham TL, Santos RP, Yan K, Ahmad W, Leal SM. A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3. Am J Med Genet A. 2005 Feb 15; 133A(1):18-22. PMID: 15641023; PMCID: PMC2909096.
    53. Santos RL, Aulchenko YS, Huygen PL, van der Donk KP, de Wijs IJ, Kemperman MH, Admiraal RJ, Kremer H, Hoefsloot LH, Cremers CW. Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations. Int J Pediatr Otorhinolaryngol. 2005 Feb; 69(2):165-74. PMID: 15656949.
      View in: PubMed
    54. Santos RL, Wajid M, Pham TL, Hussan J, Ali G, Ahmad W, Leal SM. Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clin Genet. 2005 Jan; 67(1):61-8. PMID: 15617550; PMCID: PMC2909104.
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