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Page 1
Novel KIAA0825 Variants Underlie Nonsyndromic Postaxial Polydactyly.
Abdullah, Bharadwaj T, Javed S, Khan H, Acharya A, Ji W, Umm-E-Kalsoom, Ali H, Schrauwen I, Ahmad W, Lakhani SA, Leal SM. Abdullah, et al. Among authors: schrauwen i. Genes (Basel). 2025 Sep 21;16(9):1118. doi: 10.3390/genes16091118. Genes (Basel). 2025. PMID: 41010063 Free PMC article.
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.
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, Ansar M, Ahmad W, Ahmed ZM, Leal SM. Schrauwen I, et al. J Bone Miner Res. 2019 Feb;34(2):375-386. doi: 10.1002/jbmr.3594. Epub 2018 Nov 5. J Bone Miner Res. 2019. PMID: 30395363 Free PMC article. Clinical Trial.
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
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. Ullah I, et al. Among authors: schrauwen i. Hum Genet. 2019 Jun;138(6):593-600. doi: 10.1007/s00439-019-02000-0. Epub 2019 Apr 13. Hum Genet. 2019. PMID: 30982135 Free PMC article.
A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family.
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, Wonkam A. Manyisa N, et al. Among authors: schrauwen i. Genes (Basel). 2021 Nov 6;12(11):1765. doi: 10.3390/genes12111765. Genes (Basel). 2021. PMID: 34828371 Free PMC article.
SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.
Cornejo-Sanchez DM, Acharya A, Bharadwaj T, Marin-Gomez L, Pereira-Gomez P, Nouel-Saied LM, University Of Washington Center For Mendelian Genomics, Nickerson DA, Bamshad MJ, Mefford HC, Schrauwen I, Carrizosa-Moog J, Cornejo-Ochoa W, Pineda-Trujillo N, Leal SM. Cornejo-Sanchez DM, et al. Among authors: schrauwen i. Genes (Basel). 2022 Apr 25;13(5):754. doi: 10.3390/genes13050754. Genes (Basel). 2022. PMID: 35627139 Free PMC article.
144 results