| Year | Citation | Score | |||
|---|---|---|---|---|---|
| 2023 | Bilal M, Khan H, Khan MJ, Haack TB, Buchert R, Liaqat K, Ullah K, Ahmed S, Bharadwaj T, Acharya A, Peralta S, Ali H, Hasni MS, Schrauwen I, Ullah A, ... ... Leal SM, et al. Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly. European Journal of Human Genetics : Ejhg. PMID 37684519 DOI: 10.1038/s41431-023-01450-5 | 0.407 | |||
| 2023 | Liaqat K, Bharadwaj T, Shah K, Nasir A, Acharya A, Khan S, Ullah I, Schrauwen I, Ahmad W, Leal SM. Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment. Clinical Genetics. PMID 37311648 DOI: 10.1111/cge.14390 | 0.317 | |||
| 2023 | Guo DC, Duan X, Mimnagh K, Cecchi AC, Marin IC, Yu Y, Velasco WV, Lee K, Zhu X, Murdock DR, Leal SM, Wheeler MM, Smith J, Bamshad MJ, Milewicz DM. An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family. Clinical Genetics. PMID 36861389 DOI: 10.1111/cge.14322 | 0.374 | |||
| 2023 | Faridi R, Yousaf R, Gu S, Inagaki S, Turriff AE, Pelstring K, Guan B, Naik A, Griffith AJ, Adadey SM, Aboagye ET, Awandare GA, Morell RJ, Tsilou E, Noyes AG, ... ... Leal SM, et al. Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clinical Genetics. PMID 36807241 DOI: 10.1111/cge.14312 | 0.349 | |||
| 2022 | Xie Z, Sun C, Liu C, Xie Z, Wei L, Yu J, Ling C, Guo X, Liu Y, Yu M, Leng Y, Meng L, Sun Y, Deng J, Leal SM, et al. Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants. Journal of Neurology. PMID 36319768 DOI: 10.1007/s00415-022-11432-0 | 0.307 | |||
| 2022 | Clark LN, Gao Y, Wang GT, Hernandez N, Ashley-Koch A, Jankovic J, Ottman R, Leal SM, Rodriguez SMB, Louis ED. Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology. Ebiomedicine. 85: 104290. PMID 36183486 DOI: 10.1016/j.ebiom.2022.104290 | 0.309 | |||
| 2022 | Hussain S, Nawaz S, Khan H, Acharya A, Schrauwen I, Ahmad W, Leal SM. A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV. Annals of Human Genetics. PMID 36039988 DOI: 10.1111/ahg.12462 | 0.331 | |||
| 2022 | Cornejo-Sanchez DM, Acharya A, Bharadwaj T, Marin-Gomez L, Pereira-Gomez P, Nouel-Saied LM, Nickerson DA, Bamshad MJ, Mefford HC, Schrauwen I, Carrizosa-Moog J, Cornejo-Ochoa W, Pineda-Trujillo N, Leal SM. Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families. Genes. 13. PMID 35627139 DOI: 10.3390/genes13050754 | 0.366 | |||
| 2022 | Liaqat K, Hussain S, Acharya A, Nasir A, Bharadwaj T, Ansar M, Basit S, Schrauwen I, Ahmad W, Leal SM. Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family. Genes. 13. PMID 35456468 DOI: 10.3390/genes13040662 | 0.357 | |||
| 2022 | Wonkam A, Adadey SM, Schrauwen I, Aboagye ET, Wonkam-Tingang E, Esoh K, Popel K, Manyisa N, Jonas M, deKock C, Nembaware V, Cornejo Sanchez DM, Bharadwaj T, Nasir A, Everard JL, ... ... Leal SM, et al. Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes. Communications Biology. 5: 369. PMID 35440622 DOI: 10.1038/s42003-022-03326-8 | 0.363 | |||
| 2022 | Bharadwaj T, Schrauwen I, Acharya A, Nouel-Saied LM, Väisänen ML, Kraatari M, Rahikkala E, Jarvela I, Kotimäki J, Leal SM. Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant. Molecular Genetics & Genomic Medicine. e1866. PMID 35150090 DOI: 10.1002/mgg3.1866 | 0.325 | |||
| 2021 | Adeyemo A, Faridi R, Chattaraj P, Yousaf R, Tona R, Okorie S, Bharadwaj T, Nouel-Saied LM, Acharya A, Schrauwen I, Morell RJ, Leal SM, Friedman TB, Griffith AJ, Roux I. Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. European Journal of Human Genetics : Ejhg. PMID 34837038 DOI: 10.1038/s41431-021-00984-w | 0.343 | |||
| 2021 | Manyisa N, Schrauwen I, de Souza Rios LA, Mowla S, Tekendo-Ngongang C, Popel K, Esoh K, Bharadwaj T, Nouel-Saied LM, Acharya A, Nasir A, Wonkam-Tingang E, Kock C, Dandara C, Leal SM, et al. A Monoallelic Variant in Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family. Genes. 12. PMID 34828371 DOI: 10.3390/genes12111765 | 0.333 | |||
| 2021 | Hirsch SD, Elling CL, Bootpetch TC, Scholes MA, Hafrén L, Streubel SO, Pine HS, Wine TM, Szeremeta W, Prager JD, Einarsdottir E, Yousaf A, Baschal EE, Rehman S, Bamshad MJ, ... ... Leal SM, et al. The role of CDHR3 in susceptibility to otitis media. Journal of Molecular Medicine (Berlin, Germany). PMID 34322716 DOI: 10.1007/s00109-021-02118-7 | 0.319 | |||
| 2021 | Acharya A, Schrauwen I, Leal SM. Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future. Human Genetics. PMID 34291353 DOI: 10.1007/s00439-021-02309-9 | 0.324 | |||
| 2021 | Adadey SM, Schrauwen I, Aboagye ET, Bharadwaj T, Esoh KK, Basit S, Acharya A, Nouel-Saied LM, Liaqat K, Wonkam-Tingang E, Mowla S, Awandare GA, Ahmad W, Leal SM, Wonkam A. Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment. Journal of Human Genetics. PMID 34226616 DOI: 10.1038/s10038-021-00954-6 | 0.388 | |||
| 2021 | 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, ... ... Leal SM, et al. ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment. European Journal of Human Genetics : Ejhg. PMID 34135477 DOI: 10.1038/s41431-021-00913-x | 0.307 | |||
| 2021 | Wonkam-Tingang E, Schrauwen I, Esoh KK, Bharadwaj T, Nouel-Saied LM, Acharya A, Nasir A, Leal SM, Wonkam A. A novel variant in gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family. Experimental Biology and Medicine (Maywood, N.J.). 1535370221999746. PMID 33715530 DOI: 10.1177/1535370221999746 | 0.38 | |||
| 2021 | Järvelä I, Määttä T, Acharya A, Leppälä J, Jhangiani SN, Arvio M, Siren A, Kankuri-Tammilehto M, Kokkonen H, Palomäki M, Varilo T, Fang M, Hadley TD, Jolly A, Linnankivi T, ... ... Leal SM, et al. Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. Human Genetics. PMID 33710394 DOI: 10.1007/s00439-021-02268-1 | 0.404 | |||
| 2020 | Wonkam-Tingang E, Schrauwen I, Esoh KK, Bharadwaj T, Nouel-Saied LM, Acharya A, Nasir A, Adadey SM, Mowla S, Leal SM, Wonkam A. Bi-Allelic Novel Variants in Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment. Genes. 11. PMID 33114113 DOI: 10.3390/genes11111249 | 0.386 | |||
| 2020 | Zhao L, Zhang Z, Rodriguez SMB, Vardarajan BN, Renton AE, Goate AM, Mayeux R, Wang GT, Leal SM. A quantitative trait rare variant nonparametric linkage method with application to age-at-onset of Alzheimer's disease. European Journal of Human Genetics : Ejhg. PMID 32740652 DOI: 10.1038/S41431-020-0703-Z | 0.336 | |||
| 2020 | Schrauwen I, Liaqat K, Schatteman I, Bharadwaj T, Nasir A, Acharya A, Ahmad W, Van Camp G, Leal SM. Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment. Genes. 11. PMID 32585897 DOI: 10.3390/Genes11060687 | 0.332 | |||
| 2019 | Liaqat K, Hussain S, Bilal M, Nasir A, Acharya A, Ali RH, Nawaz S, Umair M, Schrauwen I, Ahmad W, Leal SM. Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment. Journal of Human Genetics. PMID 31656313 DOI: 10.1038/S10038-019-0691-4 | 0.39 | |||
| 2019 | Zhao L, He Z, Zhang D, Wang GT, Renton AE, Vardarajan BN, Nothnagel M, Goate AM, Mayeux R, Leal SM. A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data. American Journal of Human Genetics. 105: 822-835. PMID 31585107 DOI: 10.1016/J.Ajhg.2019.09.006 | 0.371 | |||
| 2019 | Chakchouk I, Zhang D, Zhang Z, Francioli LC, Santos-Cortez RLP, Schrauwen I, Leal SM. Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry. European Journal of Human Genetics : Ejhg. PMID 31053783 DOI: 10.1038/S41431-019-0417-2 | 0.305 | |||
| 2019 | Imai-Okazaki A, Li Y, Horpaopan S, Riazalhosseini Y, Garshasbi M, Mosse YP, Zhang D, Schrauwen I, Sharma A, Fann CSJ, Leal SM, Lathrop M, Ott J. Heterozygosity mapping for human dominant trait variants. Human Mutation. PMID 31018026 DOI: 10.1002/Humu.23765 | 0.351 | |||
| 2019 | 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, ... ... Leal SM, et al. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Human Genetics. PMID 30982135 DOI: 10.1007/S00439-019-02000-0 | 0.342 | |||
| 2019 | Schrauwen I, Melegh BI, Chakchouk I, Acharya A, Nasir A, Poston A, Cornejo-Sanchez DM, Szabo Z, Karosi T, Bene J, Melegh B, Leal SM. Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma. European Journal of Human Genetics : Ejhg. PMID 30872814 DOI: 10.1038/S41431-019-0372-Y | 0.406 | |||
| 2018 | Liaqat K, Schrauwen I, Raza SI, Lee K, Hussain S, Chakchouk I, Nasir A, Acharya A, Abbe I, Umair M, Ansar M, Ullah I, Shah K, Bamshad MJ, ... ... Leal SM, et al. Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance. Journal of Human Genetics. PMID 30498240 DOI: 10.1038/S10038-018-0542-8 | 0.35 | |||
| 2018 | Faridi R, Tona R, Brofferio A, Hoa M, Olszewski R, Schrauwen I, Assir MZK, Bandesha AA, Khan AA, Rehman AU, Brewer C, Ahmed W, Leal SM, Riazuddin S, Boyden SE, et al. Mutational and Phenotypic Spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. Human Mutation. PMID 30461122 DOI: 10.1002/Humu.23689 | 0.318 | |||
| 2018 | Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, ... ... Leal SM, et al. FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 30395363 DOI: 10.1002/Jbmr.3594 | 0.361 | |||
| 2018 | Richard EM, Santos-Cortez RL, 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, ... ... Leal SM, et al. Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Human Mutation. PMID 30303587 DOI: 10.1002/humu.23666 | 0.383 | |||
| 2018 | 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, ... ... Leal SM, et al. Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. Investigative Ophthalmology & Visual Science. 59: 4552-4557. PMID 30208423 DOI: 10.1167/Iovs.18-23849 | 0.361 | |||
| 2018 | Liaqat K, Chiu I, Lee K, Chakchouk I, Andrade-Elizondo PB, Santos-Cortez RLP, Hussain S, Nawaz S, Ansar M, Khan MN, Basit S, Schrauwen I, Ahmad W, Leal SM. Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment. Journal of Human Genetics. PMID 30177809 DOI: 10.1038/S10038-018-0502-3 | 0.332 | |||
| 2018 | 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, ... ... Leal SM, et al. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. Human Genetics. PMID 30167849 DOI: 10.1007/S00439-018-1928-6 | 0.374 | |||
| 2018 | He Z, DeWan AT, Leal SM. MendelProb: Probability and sample size calculations for Mendelian studies of exome and whole genome sequence data. Bioinformatics (Oxford, England). PMID 30032240 DOI: 10.1093/Bioinformatics/Bty542 | 0.345 | |||
| 2018 | Schrauwen I, Chakchouk I, Liaqat K, Jan A, Nasir A, Hussain S, Nickerson DA, Bamshad MJ, Ullah A, Ahmad W, Leal SM. A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment. Human Genetics. PMID 29971487 DOI: 10.1007/S00439-018-1899-7 | 0.326 | |||
| 2018 | 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. European Journal of Dermatology : Ejd. PMID 29611532 DOI: 10.1684/ejd.2017.3210 | 0.443 | |||
| 2018 | Ullah A, Umair M, Muhammad D, Bilal M, Lee K, Leal SM, Ahmad W. A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type. Annals of Human Genetics. PMID 29322508 DOI: 10.1111/ahg.12233 | 0.449 | |||
| 2017 | 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, ... ... Leal SM, et al. Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. International Journal of Dermatology. 56: 1406-1413. PMID 29130490 DOI: 10.1111/ijd.13778 | 0.303 | |||
| 2017 | 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. European Journal of Human Genetics : Ejhg. 25: 1155-1161. PMID 28905881 DOI: 10.1038/Ejhg.2017.121 | 0.382 | |||
| 2017 | He Z, Zhang D, Renton AE, Li B, Zhao L, Wang GT, Goate AM, Mayeux R, Leal SM. The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data. American Journal of Human Genetics. 100: 371. PMID 28157542 DOI: 10.1016/J.Ajhg.2017.01.029 | 0.321 | |||
| 2017 | He Z, Zhang D, Renton AE, Li B, Zhao L, Wang GT, Goate AM, Mayeux R, Leal SM. The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data. American Journal of Human Genetics. PMID 28065470 DOI: 10.1016/j.ajhg.2016.12.001 | 0.321 | |||
| 2016 | 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, ... ... Leal SM, et al. Autosomal-Recessive Hearing Impairment due to Rare Missense Variants within S1PR2. American Journal of Human Genetics. PMID 26805784 DOI: 10.1016/J.Ajhg.2015.12.004 | 0.372 | |||
| 2015 | 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, ... ... Leal SM, et al. Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability. European Journal of Human Genetics : Ejhg. PMID 26695873 DOI: 10.1038/Ejhg.2015.260 | 0.345 | |||
| 2015 | Nyegaard M, Rendtorff ND, Nielsen MS, Corydon TJ, Demontis D, Starnawska A, Hedemand A, Buniello A, Niola F, Overgaard MT, Leal SM, Ahmad W, Wikman FP, Petersen KB, Crüger DG, et al. A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. Plos Genetics. 11: e1005386. PMID 26197441 DOI: 10.1371/journal.pgen.1005386 | 0.336 | |||
| 2015 | Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, ... ... Leal SM, et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. American Journal of Human Genetics. 97: 199-215. PMID 26166479 DOI: 10.1016/J.Ajhg.2015.06.009 | 0.351 | |||
| 2015 | 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, ... ... Leal SM, et al. Mutation of ATF6 causes autosomal recessive achromatopsia. Human Genetics. PMID 26063662 DOI: 10.1007/S00439-015-1571-4 | 0.328 | |||
| 2015 | Krumm N, Turner TN, Baker C, Vives L, Mohajeri K, Witherspoon K, Raja A, Coe BP, Stessman HA, He ZX, Leal SM, Bernier R, Eichler EE. Excess of rare, inherited truncating mutations in autism. Nature Genetics. 47: 582-8. PMID 25961944 DOI: 10.1038/Ng.3303 | 0.312 | |||
| 2015 | 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, ... ... Leal SM, et al. MAT2A mutations predispose individuals to thoracic aortic aneurysms. American Journal of Human Genetics. 96: 170-7. PMID 25557781 DOI: 10.1016/J.Ajhg.2014.11.015 | 0.313 | |||
| 2014 | 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, ... ... Leal SM, et al. Challenges and solutions for gene identification in the presence of familial locus heterogeneity. European Journal of Human Genetics : Ejhg. PMID 25491636 DOI: 10.1038/Ejhg.2014.266 | 0.413 | |||
| 2014 | 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, ... ... Leal SM, et al. Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. Human Molecular Genetics. 23: 3289-98. PMID 24482543 DOI: 10.1093/Hmg/Ddu042 | 0.315 | |||
| 2014 | 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, ... ... Leal SM, et al. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. American Journal of Human Genetics. 94: 144-52. PMID 24387994 DOI: 10.1016/J.Ajhg.2013.12.004 | 0.413 | |||
| 2013 | Santos-Cortez RL, Lee K, Azeem Z, Antonellis PJ, Pollock LM, Khan S, Irfanullah, Andrade-Elizondo PB, Chiu I, Adams MD, Basit S, Smith JD, Nickerson DA, McDermott BM, ... ... Leal SM, et al. Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. American Journal of Human Genetics. 93: 132-40. PMID 23768514 DOI: 10.1016/J.Ajhg.2013.05.018 | 0.427 | |||
| 2012 | 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. American Journal of Medical Genetics. Part A. 158: 315-21. PMID 22246673 DOI: 10.1002/ajmg.a.34407 | 0.314 | |||
| 2011 | 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. Genetics Research International. 2011: 368915. PMID 22567352 DOI: 10.4061/2011/368915 | 0.347 | |||
| 2011 | 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. Journal of Human Genetics. 56: 866-8. PMID 21937999 DOI: 10.1038/jhg.2011.110 | 0.331 | |||
| 2011 | Lemaire SA, McDonald ML, Guo DC, Russell L, Miller CC, Johnson RJ, Bekheirnia MR, Franco LM, Nguyen M, Pyeritz RE, Bavaria JE, Devereux R, Maslen C, Holmes KW, Eagle K, ... ... Leal SM, et al. Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Nature Genetics. 43: 996-1000. PMID 21909107 DOI: 10.1038/Ng.934 | 0.307 | |||
| 2011 | 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 Circulation Research. 109: 680-686. PMID 21778426 DOI: 10.1161/Circresaha.111.248161 | 0.309 | |||
| 2011 | Rehman AU, Gul K, Morell RJ, Lee K, Ahmed ZM, Riazuddin S, Ali RA, Shahzad M, Jaleel AU, Andrade PB, Khan SN, Khan S, Brewer CC, Ahmad W, Leal SM, et al. Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. Human Genetics. 130: 759-65. PMID 21660509 DOI: 10.1007/s00439-011-1018-5 | 0.374 | |||
| 2011 | Mendoza-Fandino GA, Gee JM, Ben-Dor S, Gonzalez-Quevedo C, Lee K, Kobayashi Y, Hartiala J, Myers RM, Leal SM, Allayee H, Patel PI. A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia. Clinical Genetics. 80: 265-72. PMID 21443745 DOI: 10.1111/J.1399-0004.2010.01529.X | 0.427 | |||
| 2011 | Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, ... ... Leal SM, et al. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. American Journal of Human Genetics. 88: 127-37. PMID 21255762 DOI: 10.1016/J.Ajhg.2010.12.011 | 0.374 | |||
| 2011 | Ahmed ZM, Yousaf R, Lee BC, Khan SN, Lee S, Lee K, Husnain T, Rehman AU, Bonneux S, Ansar M, Ahmad W, Leal SM, Gladyshev VN, Belyantseva IA, Van Camp G, et al. Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. American Journal of Human Genetics. 88: 19-29. PMID 21185009 DOI: 10.1016/J.Ajhg.2010.11.010 | 0.386 | |||
| 2011 | DE LA Vega FM, Bustamante CD, Leal SM. GENOME-WIDE ASSOCIATION MAPPING AND RARE ALLELES: FROM POPULATION GENOMICS TO PERSONALIZED MEDICINE - Session Introduction. Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing. 74-5. PMID 21121034 | 0.308 | |||
| 2010 | Brunetti-Pierri N, Lachman R, Lee K, Leal SM, Piccolo P, Van Den Veyver IB, Bacino CA. Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. American Journal of Medical Genetics. Part A. 1825-31. PMID 20583181 DOI: 10.1002/ajmg.a.33470 | 0.351 | |||
| 2010 | Schraders M, Lee K, Oostrik J, Huygen PL, Ali G, Hoefsloot LH, Veltman JA, Cremers FP, Basit S, Ansar M, Cremers CW, Kunst HP, Ahmad W, Admiraal RJ, Leal SM, et al. Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. American Journal of Human Genetics. 86: 138-47. PMID 20137778 DOI: 10.1016/J.Ajhg.2009.12.017 | 0.341 | |||
| 2009 | Schultz JM, Khan SN, Ahmed ZM, Riazuddin S, Waryah AM, Chhatre D, Starost MF, Ploplis B, Buckley S, Velásquez D, Kabra M, Lee K, Hassan MJ, Ali G, Ansar M, ... ... Leal SM, et al. Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. American Journal of Human Genetics. 85: 25-39. PMID 19576567 DOI: 10.1016/j.ajhg.2009.06.003 | 0.343 | |||
| 2009 | Chishti MS, Lee K, McDonald ML, Hassan MJ, Ansar M, Ahmad W, Leal SM. Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3. Journal of Human Genetics. 54: 141-4. PMID 19229252 DOI: 10.1038/jhg.2009.2 | 0.355 | |||
| 2009 | Ahram D, Sato TS, Kohilan A, Tayeh M, Chen S, Leal S, Al-Salem M, El-Shanti H. A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. American Journal of Human Genetics. 84: 274-8. PMID 19200529 DOI: 10.1016/J.Ajhg.2009.01.007 | 0.433 | |||
| 2009 | McBride KL, Zender GA, Fitzgerald-Butt SM, Koehler D, Menesses-Diaz A, Fernbach S, Lee K, Towbin JA, Leal S, Belmont JW. Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome). European Journal of Human Genetics : Ejhg. 17: 811-9. PMID 19142209 DOI: 10.1038/Ejhg.2008.255 | 0.382 | |||
| 2009 | Gajecka M, Radhakrishna U, Winters D, Nath SK, Rydzanicz M, Ratnamala U, Ewing K, Molinari A, Pitarque JA, Lee K, Leal SM, Bejjani BA. Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32. Investigative Ophthalmology & Visual Science. 50: 1531-9. PMID 19011015 DOI: 10.1167/iovs.08-2173 | 0.333 | |||
| 2008 | Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, ... ... Leal SM, et al. Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. American Journal of Human Genetics. 82: 125-38. PMID 18179891 DOI: 10.1016/J.Ajhg.2007.09.008 | 0.36 | |||
| 2008 | Chishti MS, Bhatti A, Tamim S, Lee K, McDonald ML, Leal SM, Ahmad W. Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families. Journal of Human Genetics. 53: 101-5. PMID 18084694 DOI: 10.1007/s10038-007-0209-3 | 0.425 | |||
| 2007 | Mendoza G, Pemberton TJ, Lee K, Scarel-Caminaga R, Mehrian-Shai R, Gonzalez-Quevedo C, Ninis V, Hartiala J, Allayee H, Snead ML, Leal SM, Line SR, Patel PI. A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3. Human Genetics. 120: 653-62. PMID 17024372 DOI: 10.1007/S00439-006-0246-6 | 0.378 | |||
| 2006 | Wali A, John P, Gul A, Lee K, Chishti MS, Ali G, Hassan MJ, Leal SM, Ahmad W. A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31. Clinical Genetics. 70: 233-9. PMID 16922726 DOI: 10.1111/J.1399-0004.2006.00661.X | 0.407 | |||
| 2006 | 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. Human Genetics. 120: 85-92. PMID 16703383 DOI: 10.1007/s00439-006-0188-z | 0.411 | |||
| 2006 | 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. Journal of Molecular Medicine (Berlin, Germany). 84: 226-31. PMID 16389551 DOI: 10.1007/s00109-005-0015-3 | 0.384 | |||
| 2006 | El-Shanti H, Daoud A, Sadoon AA, Leal SM, Chen S, Lee K, Spiegel R. A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan. Brain & Development. 28: 353-7. PMID 16376507 DOI: 10.1016/j.braindev.2005.11.003 | 0.333 | |||
| 2006 | 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. Human Genetics. 118: 605-10. PMID 16261342 DOI: 10.1007/s00439-005-0079-8 | 0.326 | |||
| 2005 | 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. Human Mutation. 26: 396. PMID 16134132 DOI: 10.1002/humu.9374 | 0.313 | |||
| 2005 | 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. Clinical Genetics. 67: 61-8. PMID 15617550 DOI: 10.1111/J.1399-0004.2005.00379.X | 0.387 | |||
| 2004 | Ansar M, Chahrour MH, Amin Ud Din M, Arshad M, Haque S, Pham TL, Yan K, Ahmad W, Leal SM. DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22. Human Heredity. 57: 195-9. PMID 15583425 DOI: 10.1159/000081446 | 0.35 | |||
| 2004 | Rafiq MA, Ansar M, Mahmood S, Haque S, Faiyaz-ul-Haque M, Leal SM, Ahmad W. A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. The Journal of Investigative Dermatology. 123: 247-8. PMID 15191570 DOI: 10.1111/j.0022-202X.2004.22715.x | 0.318 | |||
| 2003 | Das P, Hai M, Elcock C, Leal SM, Brown DT, Brook AH, Patel PI. Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia. American Journal of Medical Genetics Part A. 118: 35-42. PMID 12605438 DOI: 10.1002/Ajmg.A.10011 | 0.333 | |||
| 2003 | DeWan AT, Parrado AR, Leal SM. A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval Clinical Genetics. 63: 39-45. PMID 12519370 DOI: 10.1034/J.1399-0004.2003.630106.X | 0.418 | |||
| 2002 | Baala L, Hadj-Rabia S, Hamel-Teillac D, Hadchouel M, Prost C, Leal SM, Jacquemin E, Sefiani A, De Prost Y, Courtois G, Munnich A, Lyonnet S, Vabres P. Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28. The Journal of Investigative Dermatology. 119: 70-6. PMID 12164927 DOI: 10.1046/J.1523-1747.2002.01809.X | 0.375 | |||
| 2002 | Wessman M, Kallela M, Kaunisto MA, Marttila P, Sobel E, Hartiala J, Oswell G, Leal SM, Papp JC, Hämäläinen E, Broas P, Joslyn G, Hovatta I, Hiekkalinna T, Kaprio J, et al. A susceptibility locus for migraine with aura, on chromosome 4q24. American Journal of Human Genetics. 70: 652-62. PMID 11836652 DOI: 10.1086/339078 | 0.341 | |||
| 2000 | Kimonis VE, Kovach MJ, Waggoner B, Leal S, Salam A, Rimer L, Davis K, Khardori R, Gelber D. Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 2: 232-41. PMID 11252708 DOI: 10.1097/00125817-200007000-00006 | 0.406 | |||
| 2000 | Kimonis VE, Kovach MJ, Salam A, Leal S, Waggoner B, Davis K, Khardori R, Gelber D. Clinical and Molecular Studies in a large unique family with Limb-Girdle Muscular Dystrophy and Paget Disease of Bone Genetics in Medicine. 2: 80-80. DOI: 10.1097/00125817-200001000-00103 | 0.422 | |||
| 1992 | Medori R, Tritschler HJ, LeBlanc A, Villare F, Manetto V, Chen HY, Xue R, Leal S, Montagna P, Cortelli P. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. The New England Journal of Medicine. 326: 444-9. PMID 1346338 DOI: 10.1056/Nejm199202133260704 | 0.407 | |||
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