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Page 1
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: nouel saied lm. Genes (Basel). 2022 Apr 25;13(5):754. doi: 10.3390/genes13050754. Genes (Basel). 2022. PMID: 35627139 Free PMC article.
A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family.
Wonkam-Tingang E, Schrauwen I, Esoh KK, Bharadwaj T, Nouel-Saied LM, Acharya A, Nasir A, Leal SM, Wonkam A. Wonkam-Tingang E, et al. Among authors: nouel saied lm. Exp Biol Med (Maywood). 2021 Jul;246(13):1524-1532. doi: 10.1177/1535370221999746. Epub 2021 Mar 9. Exp Biol Med (Maywood). 2021. PMID: 33715530 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: nouel saied lm. Genes (Basel). 2021 Nov 6;12(11):1765. doi: 10.3390/genes12111765. Genes (Basel). 2021. PMID: 34828371 Free PMC article.
Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.
Bharadwaj T, Schrauwen I, Acharya A, Nouel-Saied LM, Väisänen ML, Kraatari M, Rahikkala E, Jarvela I, Kotimäki J, Leal SM. Bharadwaj T, et al. Among authors: nouel saied lm. Mol Genet Genomic Med. 2022 Mar;10(3):e1866. doi: 10.1002/mgg3.1866. Epub 2022 Feb 11. Mol Genet Genomic Med. 2022. PMID: 35150090 Free PMC article.
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.
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 Jr, Ansar M, Riazuddin S, Ahmad W, Leal SM. Bharadwaj T, et al. Among authors: nouel saied lm. Eur J Hum Genet. 2022 Jan;30(1):22-33. doi: 10.1038/s41431-021-00913-x. Epub 2021 Jun 16. Eur J Hum Genet. 2022. PMID: 34135477 Free PMC article.
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
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, Paetau R, Saarela A, Kälviäinen R, Olme J, Nouel-Saied LM, Cornejo-Sanchez DM, Llaci L, Lupski JR, Posey JE, Leal SM, Schrauwen I. Järvelä I, et al. Hum Genet. 2021 Jul;140(7):1011-1029. doi: 10.1007/s00439-021-02268-1. Epub 2021 Mar 12. Hum Genet. 2021. PMID: 33710394 Free PMC article.
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment.
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. Adadey SM, et al. Among authors: nouel saied lm. J Hum Genet. 2021 Dec;66(12):1169-1175. doi: 10.1038/s10038-021-00954-6. Epub 2021 Jul 5. J Hum Genet. 2021. PMID: 34226616 Free PMC article.
12 results