 Connection
Regie Lyn Santos-Cortez to Pedigree
This is a "connection" page, showing publications Regie Lyn Santos-Cortez has written about Pedigree.
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2.905 |
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Santos-Cortez RLP, Elling CL, Gomez HZ, Einarsdottir E, Kere J, Mattila PS, Hafr?n L, Ryan AF. Rare and low-frequency variants in families with otitis media. J Mol Med (Berl). 2025 May; 103(5):559-570.
Score: 0.219
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Yousaf A, Yousaf S, Shabbir AS, Yousaf R, Riazuddin S, Shaikh RS, Santos-Cortez RLP, Ahmed ZM. Identification of rare missense variants in the BSN gene co-segregating with chronic otitis media in a consanguineous Pakistani family. Mol Genet Genomic Med. 2024 Sep; 12(9):e2478.
Score: 0.210
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Bootpetch TC, Hafr?n L, Elling CL, Baschal EE, Manichaikul AW, Pine HS, Szeremeta W, Scholes MA, Cass SP, Larson ED, Chan KH, Ishaq R, Prager JD, Shaikh RS, Gubbels SP, Yousaf A, Wine TM, Bamshad MJ, Yoon PJ, Jenkins HA, Nickerson DA, Streubel SO, Friedman NR, Frank DN, Einarsdottir E, Kere J, Riazuddin S, Daly KA, Leal SM, Ryan AF, Mattila PS, Ahmed ZM, Sale MM, Chonmaitree T, Santos-Cortez RLP. Multi-omic studies on missense PLG variants in families with otitis media. Sci Rep. 2020 09 14; 10(1):15035.
Score: 0.159
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Frank DN, Giese APJ, Hafren L, Bootpetch TC, Yarza TKL, Steritz MJ, Pedro M, Labra PJ, Daly KA, Tantoco MLC, Szeremeta W, Reyes-Quintos MRT, Ahankoob N, Llanes EGDV, Pine HS, Yousaf S, Ir D, Einarsdottir E, de la Cruz RAR, Lee NR, Nonato RMA, Robertson CE, Ong KMC, Magno JPM, Chiong ANE, Espiritu-Chiong MC, San Agustin ML, Cruz TLG, Abes GT, Bamshad MJ, Cutiongco-de la Paz EM, Kere J, Nickerson DA, Mohlke KL, Riazuddin S, Chan A, Mattila PS, Leal SM, Ryan AF, Ahmed ZM, Chonmaitree T, Sale MM, Chiong CM, Santos-Cortez RLP. Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants. J Med Genet. 2021 07; 58(7):442-452.
Score: 0.158
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Larson ED, Magno JPM, Steritz MJ, Llanes EGDV, Cardwell J, Pedro M, Roberts TB, Einarsdottir E, Rosanes RAQ, Greenlee C, Santos RAP, Yousaf A, Streubel SO, Santos ATR, Ruiz AG, Lagrana-Villagracia SM, Ray D, Yarza TKL, Scholes MA, Anderson CB, Acharya A, Gubbels SP, Bamshad MJ, Cass SP, Lee NR, Shaikh RS, Nickerson DA, Mohlke KL, Prager JD, Cruz TLG, Yoon PJ, Abes GT, Schwartz DA, Chan AL, Wine TM, Cutiongco-de la Paz EM, Friedman N, Kechris K, Kere J, Leal SM, Yang IV, Patel JA, Tantoco MLC, Riazuddin S, Chan KH, Mattila PS, Reyes-Quintos MRT, Ahmed ZM, Jenkins HA, Chonmaitree T, Hafr?n L, Chiong CM, Santos-Cortez RLP. A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat. 2019 08; 40(8):1156-1171.
Score: 0.146
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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, Hafr?n L, Chonmaitree T, Sale MM, Ahmed ZM. FUT2 Variants Confer Susceptibility to Familial Otitis Media. Am J Hum Genet. 2018 11 01; 103(5):679-690.
Score: 0.140
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Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, Rasheed M, Hamza R, Acharya A, Ullah E, Saqib MAN, Abbe I, Ali G, Hassan MJ, Khan S, Azeem Z, Ullah I, Bamshad MJ, Nickerson DA, Schrauwen I, Ahmad W, Ansar M, Leal SM. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. Hum Genet. 2018 Sep; 137(9):735-752.
Score: 0.138
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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.
Score: 0.128
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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.
Score: 0.116
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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.
Score: 0.111
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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.
Score: 0.096
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Santos RL, H?fner 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.
Score: 0.059
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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.
Score: 0.059
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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.
Score: 0.058
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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.
Score: 0.058
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Malik MA, Saqib MAN, Mientjes E, Acharya A, Alam MR, Wallaard I, Schrauwen I, Bamshad MJ, Santos-Cortez RLP, Elgersma Y, Leal SM, Ansar M. A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome. Eur J Hum Genet. 2023 12; 31(12):1447-1454.
Score: 0.049
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Bharadwaj T, Schrauwen I, Rehman S, Liaqat K, Acharya A, Giese APJ, Nouel-Saied LM, Nasir A, Everard JL, Pollock LM, Zhu S, Bamshad MJ, Nickerson DA, Ali RH, Ullah A, Wali A, Ali G, Santos-Cortez RLP, Ahmed ZM, McDermott BM, Ansar M, Riazuddin S, Ahmad W, Leal SM. ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment. Eur J Hum Genet. 2022 01; 30(1):22-33.
Score: 0.042
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Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, ?unap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson RE, Banka S, Bonasio R, Fahrner JA. Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. Am J Hum Genet. 2020 02 06; 106(2):234-245.
Score: 0.038
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Ullah I, Kakar N, Schrauwen I, Hussain S, Chakchouk I, Liaqat K, Acharya A, Wasif N, Santos-Cortez RLP, Khan S, Aziz A, Lee K, Couthouis J, Horn D, Kragesteen BK, Spielmann M, Thiele H, Nickerson DA, Bamshad MJ, Gitler AD, Ahmad J, Ansar M, Borck G, Ahmad W, Leal SM. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet. 2019 Jun; 138(6):593-600.
Score: 0.036
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Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, Bamshad MJ, Nickerson DA, Schrauwen I, Khan SN, Morell RJ, Zafar S, Ansar M, Ahmed ZM, Ahmad W, Riazuddin S, Friedman TB, Leal SM, Riazuddin S. Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Hum Mutat. 2019 01; 40(1):53-72.
Score: 0.035
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Latif Z, Chakchouk I, Schrauwen I, Lee K, Santos-Cortez RLP, Abbe I, Acharya A, Jarral A, Ali I, Ullah E, Khan MN, Ali G, Tahir TH, Bamshad MJ, Nickerson DA, Ahmad W, Ansar M, Leal SM. Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2018 09 04; 59(11):4552-4557.
Score: 0.035
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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.
Score: 0.034
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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 02; 178(2):556-558.
Score: 0.033
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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.
Score: 0.033
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Heimer G, Ker?t?r JM, Riley LG, Balasubramaniam S, Eyal E, Pietik?inen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F, Kraoua I, Panteghini C, Valletta L, Garavaglia B, Cowley MJ, Gayevskiy V, Roscioli T, Silberstein JM, Hoffmann C, Raas-Rothschild A, Tiranti V, Anikster Y, Christodoulou J, Kastaniotis AJ, Ben-Zeev B, Hayflick SJ. MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. Am J Hum Genet. 2016 Dec 01; 99(6):1229-1244.
Score: 0.031
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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.
Score: 0.030
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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.
Score: 0.029
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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.
Score: 0.029
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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.
Score: 0.029
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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.
Score: 0.029
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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.
Score: 0.029
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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.
Score: 0.029
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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.
Score: 0.029
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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.
Score: 0.028
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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.
Score: 0.028
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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.
Score: 0.027
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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.
Score: 0.027
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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.
Score: 0.027
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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.
Score: 0.025
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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.
Score: 0.024
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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.
Score: 0.024
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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.
Score: 0.023
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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.
Score: 0.023
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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.
Score: 0.022
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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.
Score: 0.021
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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.
Score: 0.021
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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.
Score: 0.021
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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.
Score: 0.021
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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.
Score: 0.020
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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.
Score: 0.015
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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.
Score: 0.015
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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.
Score: 0.014
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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.
Score: 0.014
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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.
Score: 0.014
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The connection strength for concepts is the sum of the scores for each matching publication.
Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
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