Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Liz M. Nouel‐Saied"'
Autor:
Ambroise Wonkam, Samuel Mawuli Adadey, Isabelle Schrauwen, Elvis Twumasi Aboagye, Edmond Wonkam-Tingang, Kevin Esoh, Kalinka Popel, Noluthando Manyisa, Mario Jonas, Carmen deKock, Victoria Nembaware, Diana M. Cornejo Sanchez, Thashi Bharadwaj, Abdul Nasir, Jenna L. Everard, Magda K. Kadlubowska, Liz M. Nouel-Saied, Anushree Acharya, Osbourne Quaye, Geoffrey K. Amedofu, Gordon A. Awandare, Suzanne M. Leal
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-16 (2022)
Whole-exome sequencing for 51 families in Ghana reveals 7 candidate genes associated with hearing impairment, 6 of which have previously been demonstrated to be expressed in the mouse inner ear.
Externí odkaz:
https://doaj.org/article/d54deff9f373468982ff9b09bed87e3a
Autor:
Thashi Bharadwaj, Isabelle Schrauwen, Anushree Acharya, Liz M. Nouel‐Saied, Marja‐Leena Väisänen, Minna Kraatari, Elisa Rahikkala, Irma Jarvela, Jouko Kotimäki, Suzanne M. Leal
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 3, Pp n/a-n/a (2022)
Abstract Background The genetic architecture of hearing impairment in Finland is largely unknown. Here, we investigated two Finnish families with autosomal recessive nonsyndromic symmetrical moderate‐to‐severe hearing impairment. Methods Exome an
Externí odkaz:
https://doaj.org/article/cbb5456d32564b2dbad9eab4e1b6f46a
Autor:
Hannaleena Kokkonen, Auli Siren, Tuomo Määttä, Magda Kamila Kadlubowska, Anushree Acharya, Liz M. Nouel‐Saied, Suzanne M. Leal, Irma Järvelä, Isabelle Schrauwen
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Abstract Background Microduplications are a rare cause of disease in X‐linked neurodevelopmental disorders but likely have been under reported due challenges in detection and interpretation. Methods We performed exome sequencing and subsequent micr
Externí odkaz:
https://doaj.org/article/b7ccd5926e7c45f3b64d375225987acd
Autor:
Diana M. Cornejo-Sanchez, Anushree Acharya, Thashi Bharadwaj, Lizeth Marin-Gomez, Pilar Pereira-Gomez, Liz M. Nouel-Saied, University of Washington Center for Mendelian Genomics, Deborah A. Nickerson, Michael J. Bamshad, Heather C. Mefford, Isabelle Schrauwen, Jaime Carrizosa-Moog, William Cornejo-Ochoa, Nicolas Pineda-Trujillo, Suzanne M. Leal
Publikováno v:
Genes, Vol 13, Iss 5, p 754 (2022)
Genetic epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant disorder with febrile or afebrile seizures that exhibits phenotypic variability. Only a few variants in SCN1A have been previously characterized for GEFS+, in Latin American
Externí odkaz:
https://doaj.org/article/9ea0253bc3d646f98b7b954e73c9ee0e
Autor:
Noluthando Manyisa, Isabelle Schrauwen, Leonardo Alves de Souza Rios, Shaheen Mowla, Cedrik Tekendo-Ngongang, Kalinka Popel, Kevin Esoh, Thashi Bharadwaj, Liz M. Nouel-Saied, Anushree Acharya, Abdul Nasir, Edmond Wonkam-Tingang, Carmen de Kock, Collet Dandara, Suzanne M. Leal, Ambroise Wonkam
Publikováno v:
Genes, Vol 12, Iss 11, p 1765 (2021)
Hearing impairment (HI) is a sensory disorder with a prevalence of 0.0055 live births in South Africa. DNA samples from a South African family presenting with progressive, autosomal dominant non-syndromic HI were subjected to whole-exome sequencing,
Externí odkaz:
https://doaj.org/article/c996db29cf5246ba9d5c149767b6aa66
Autor:
Edmond Wonkam-Tingang, Isabelle Schrauwen, Kevin K. Esoh, Thashi Bharadwaj, Liz M. Nouel-Saied, Anushree Acharya, Abdul Nasir, Samuel M. Adadey, Shaheen Mowla, Suzanne M. Leal, Ambroise Wonkam
Publikováno v:
Genes, Vol 11, Iss 11, p 1249 (2020)
DNA samples from five members of a multiplex non-consanguineous Cameroonian family, segregating prelingual and progressive autosomal recessive non-syndromic sensorineural hearing impairment, underwent whole exome sequencing. We identified novel bi-al
Externí odkaz:
https://doaj.org/article/42eed31f23134b4f934d86402727cc96
Autor:
Andrew J. Griffith, Risa Tona, Liz M Nouel-Saied, Parna Chattaraj, Robert J. Morell, Thomas B. Friedman, Suzanne M. Leal, Rabia Faridi, Rizwan Yousaf, Anushree Acharya, Adebolajo A. Adeyemo, Thashi Bharadwaj, Samuel Okorie, Isabelle Roux, Isabelle Schrauwen
Publikováno v:
European Journal of Human Genetics
Although variant alleles of hundreds of genes are associated with sensorineural deafness in children, the genes and alleles involved remain largely unknown in the Sub-Saharan regions of Africa. We ascertained 56 small families mainly of Yoruba ethno-
Autor:
Thashi Bharadwaj, Anushree Acharya, Khurram Liaqat, Gordon A. Awandare, Kevin K Esoh, Elvis Twumasi Aboagye, Shaheen Mowla, Suzanne M. Leal, Sulman Basit, Isabelle Schrauwen, Samuel Mawuli Adadey, Edmond Wonkam-Tingang, Liz M Nouel-Saied, Wasim Ahmad, Ambroise Wonkam
Publikováno v:
Journal of Human Genetics
Congenital hearing impairment (HI) is genetically heterogeneous making its genetic diagnosis challenging. Investigation of novel HI genes and variants will enhance our understanding of the molecular mechanisms and to aid genetic diagnosis. We perform
ADAMTS1, MPDZ, MVD, and SEZ6:candidate genes for autosomal recessive nonsyndromic hearing impairment
Autor:
Saima Riazuddin, Sakina Rehman, Liz M Nouel-Saied, Muhammad Ansar, Anushree Acharya, Shaoyuan Zhu, Lana M. Pollock, Ghazanfar Ali, Regie Lyn P. Santos-Cortez, Wasim Ahmad, Thashi Bharadwaj, Jenna L. Everard, Asmat Ullah, Khurram Liaqat, Michael J. Bamshad, Suzanne M. Leal, Isabelle Schrauwen, Brian M. McDermott, Raja Hussain Ali, Abdul Nasir, Abdul Wali, Arnaud P. J. Giese, Deborah A. Nickerson, Zubair M. Ahmed
Publikováno v:
Bharadwaj, T, Schrauwen, I, Rehman, S, Liaqat, K, Acharya, A, Giese, A P J, Nouel-Saied, L M, Nasir, A, Everard, J L, Pollock, L M, Zhu, S, Bamshad, M J, Nickerson, D A, Ali, R H, Ullah, A, Wali, A, Ali, G, Santos-Cortez, R L P, Ahmed, Z M, McDermott, B M, Ansar, M, Riazuddin, S, Ahmad, W & Leal, S M 2022, ' ADAMTS1, MPDZ, MVD, and SEZ6 : candidate genes for autosomal recessive nonsyndromic hearing impairment ', European Journal of Human Genetics, vol. 30, pp. 22-33 . https://doi.org/10.1038/s41431-021-00913-x
Hearing impairment (HI) is a common disorder of sensorineural function with a highly heterogeneous genetic background. Although substantial progress has been made in the understanding of the genetic etiology of hereditary HI, many genes implicated in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47b3797ece0eb90be2e775eda90491d2
https://curis.ku.dk/ws/files/289458884/s41431_021_00913_x.pdf
https://curis.ku.dk/ws/files/289458884/s41431_021_00913_x.pdf
Autor:
Liz M. Nouel Saied, Qayum Khan, Louise A. Metherell, Nadia Farooqi, Hamed A. El-Serehy, Suzanne M. Leal, Anushree Acharya, Fazal Jalil, Yasir Ali, Isabelle Schrauwen
Publikováno v:
Genes
Genes, Vol 12, Iss 1915, p 1915 (2021)
Genes; Volume 12; Issue 12; Pages: 1915
Genes, Vol 12, Iss 1915, p 1915 (2021)
Genes; Volume 12; Issue 12; Pages: 1915
Introduction: Cardiomyopathies are diseases of the heart muscle and are important causes of heart failure. Dilated cardiomyopathy (DCM) is a common form of cardiomyopathy that can be acquired, syndromic or non-syndromic. The current study was conduct