| A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family F Ahmad, I Ahmed, A Nasir, M Umair, S Shahzad, D Muhammad, ... European Journal of Dermatology 28, 209-216, 2018 | 12 | 2018 |
| A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family S Khan, M Ansar, AK Khan, K Shah, N Muhammad, S Shahzad, ... British Journal of Dermatology 178 (2), 556-558, 2018 | 13 | 2018 |
| A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair M Ansar, SI Raza, K Lee, S Shahi, A Acharya, H Dai, JD Smith, ... Journal of medical genetics 52 (10), 676-680, 2015 | 30 | 2015 |
| A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome MA Malik, MAN Saqib, E Mientjes, A Acharya, MR Alam, I Wallaard, ... European Journal of Human Genetics 31 (12), 1447-1454, 2023 | 4 | 2023 |
| A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36. 31–p36. 13 M Ansar, K Lee, SKH Naqvi, PB Andrade, S Basit, RLP Santos-Cortez, ... Journal of human genetics 56 (12), 866-868, 2011 | 10 | 2011 |
| A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3 MJ Hassan, RLP Santos, MA Rafiq, MH Chahrour, TL Pham, M Wajid, ... Human genetics 118, 605-610, 2006 | 19 | 2006 |
| A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13. 31‐q22. 3 M Aslam, M Wajid, MH Chahrour, M Ansar, S Haque, TL Pham, ... American Journal of Medical Genetics Part A 133 (1), 18-22, 2005 | 24 | 2005 |
| A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families K Lee, S Khan, M Ansar, RLP Santos-Cortez, W Ahmad, SM Leal Genetics Research International 2011 (1), 368915, 2011 | 15 | 2011 |
| A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families F Ahmad, M Ansar, S Mehmood, A Izoduwa, K Lee, A Nasir, M Abrar, ... Journal of the European Academy of Dermatology and Venereology: JEADV 30 (12 …, 2016 | 23 | 2016 |
| A2ML1 and otitis media: novel variants, differential expression, and relevant pathways ED Larson, JPM Magno, MJ Steritz, EGV Llanes, J Cardwell, M Pedro, ... Human mutation 40 (8), 1156-1171, 2019 | 14 | 2019 |
| ABO Genotype and Blood Type Are Associated with Otitis Media BM Wiesen, L Hafrén, E Einarsdottir, J Kere, PS Mattila, ... Genetic testing and molecular biomarkers 23 (11), 823-827, 2019 | 6 | 2019 |
| ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment T Bharadwaj, I Schrauwen, S Rehman, K Liaqat, A Acharya, APJ Giese, ... European Journal of Human Genetics 30 (1), 22-33, 2022 | 12 | 2022 |
| Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish RLP Santos-Cortez, K Lee, AP Giese, M Ansar, M Amin-Ud-Din, K Rehn, ... Human molecular genetics 23 (12), 3289-3298, 2014 | 64 | 2014 |
| Audiologic Measures in an Indigenous Community with A2ML1- and FUT2-Related Otitis Media RLP Santos-Cortez, KMC Ong, A Carlos-Hiceta, MLC Tantoco, TKL Yarza, ... Genetic Testing and Molecular Biomarkers 27 (1), 12-17, 2023 | | 2023 |
| Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene K Lee, M Amin ud Din, M Ansar, RLP Santos-Cortez, W Ahmad, SM Leal Genetics Research International 2011 (1), 294675, 2011 | 5 | 2011 |
| Autosomal-dominant multiple pterygium syndrome is caused by mutations in MYH3 JX Chong, LC Burrage, AE Beck, CT Marvin, MJ McMillin, KM Shively, ... The American Journal of Human Genetics 96 (5), 841-849, 2015 | 70 | 2015 |
| Autosomal-recessive hearing impairment due to rare missense variants within S1PR2 RLP Santos-Cortez, R Faridi, AU Rehman, K Lee, M Ansar, X Wang, ... The American Journal of Human Genetics 98 (2), 331-338, 2016 | 52 | 2016 |
| Challenges and solutions for gene identification in the presence of familial locus heterogeneity AU Rehman, RLP Santos-Cortez, MC Drummond, M Shahzad, K Lee, ... European Journal of Human Genetics 23 (9), 1207-1215, 2015 | 44 | 2015 |
| Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies NK Lee, KM Uhler, PJ Yoon, RLP Santos-Cortez Biomedicines 12 (7), 1427, 2024 | | 2024 |
| Confirmation of the role of DHX38 in the etiology of early-onset retinitis pigmentosa Z Latif, I Chakchouk, I Schrauwen, K Lee, RLP Santos-Cortez, I Abbe, ... Investigative ophthalmology & visual science 59 (11), 4552-4557, 2018 | 23 | 2018 |
