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Year Number of Results
2019 2
2020 2
2021 3
2022 2
2023 3
2024 0

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11 results

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Page 1
Long-read whole-genome sequencing for the genetic diagnosis of dystrophinopathies.
Xie Z, Sun C, Zhang S, Liu Y, Yu M, Zheng Y, Meng L, Acharya A, Cornejo-Sanchez DM, Wang G, Zhang W, Schrauwen I, Leal SM, Wang Z, Yuan Y. Xie Z, et al. Among authors: cornejo sanchez dm. Ann Clin Transl Neurol. 2020 Oct;7(10):2041-2046. doi: 10.1002/acn3.51201. Epub 2020 Sep 20. Ann Clin Transl Neurol. 2020. PMID: 32951359 Free PMC article.
Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.
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, Kadlubowska MK, Nouel-Saied LM, Acharya A, Quaye O, Amedofu GK, Awandare GA, Leal SM. Wonkam A, et al. Among authors: cornejo sanchez dm. Commun Biol. 2022 Apr 19;5(1):369. doi: 10.1038/s42003-022-03326-8. Commun Biol. 2022. PMID: 35440622 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. Genes (Basel). 2022 Apr 25;13(5):754. doi: 10.3390/genes13050754. Genes (Basel). 2022. PMID: 35627139 Free PMC article.
The genetic contribution of the X chromosome in age-related hearing loss.
Naderi E, Cornejo-Sanchez DM, Li G, Schrauwen I, Wang GT, Dewan AT, Leal SM. Naderi E, et al. Among authors: cornejo sanchez dm. Front Genet. 2023 Feb 21;14:1106328. doi: 10.3389/fgene.2023.1106328. eCollection 2023. Front Genet. 2023. PMID: 36896235 Free PMC article.
Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era.
Xie Z, Sun C, Liu Y, Yu M, Zheng Y, Meng L, Wang G, Cornejo-Sanchez DM, Bharadwaj T, Yan J, Zhang L, Pineda-Trujillo N, Zhang W, Leal SM, Schrauwen I, Wang Z, Yuan Y. Xie Z, et al. Among authors: cornejo sanchez dm. J Med Genet. 2021 Nov;58(11):743-751. doi: 10.1136/jmedgenet-2020-107113. Epub 2020 Sep 25. J Med Genet. 2021. PMID: 32978268
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. Among authors: cornejo sanchez dm. 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.
11 results