Zobrazeno 1 - 10
of 324
pro vyhledávání: '"Suzanne M, Leal"'
Autor:
Isabelle Schrauwen, Yasmin Rajendran, Anushree Acharya, Susanna Öhman, Maria Arvio, Ritva Paetau, Auli Siren, Kristiina Avela, Johanna Granvik, Suzanne M. Leal, Tuomo Määttä, Hannaleena Kokkonen, Irma Järvelä
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)
Abstract While short-read sequencing currently dominates genetic research and diagnostics, it frequently falls short of capturing certain structural variants (SVs), which are often implicated in the etiology of neurodevelopmental disorders (NDDs). Op
Externí odkaz:
https://doaj.org/article/fbba5398c7c74c1c917830d716485070
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-9 (2023)
Abstract Background Analysis of imputed genotypes is an important and routine component of genome-wide association studies and the increasing size of imputation reference panels has facilitated the ability to impute and test low-frequency variants fo
Externí odkaz:
https://doaj.org/article/c6e602e163224f069a6b3846ed7f9d2e
Autor:
Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Kevin Esoh, Anushree Acharya, Thashi Bharadwaj, Nicole S. Lin, Lucas Amenga-Etego, Gordon A. Awandare, Isabelle Schrauwen, Suzanne M. Leal, Ambroise Wonkam
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-10 (2022)
Abstract Background Childhood hearing impairment (HI) is genetically heterogeneous with many implicated genes, however, only a few of these genes are reported in African populations. Methods This study used exome and Sanger sequencing to resolve the
Externí odkaz:
https://doaj.org/article/c26c36b2c8bc4f9cbf88d7ad662a1b90
Autor:
Andrew T. DeWan, Megan E. Cahill, Diana M. Cornejo-Sanchez, Yining Li, Zihan Dong, Tabassum Fabiha, Hao Sun, Gao Wang, Suzanne M. Leal
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Asthma, type 2 diabetes (T2D), and anthropometric measures are correlated complex traits that all have a major genetic component.Objective: To investigate the overlap in genetic variants associated with these complex traits.Methods: Using
Externí odkaz:
https://doaj.org/article/0ed63eccfd5d4d77add40638f194591b
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:
Elnaz Naderi, Diana M. Cornejo-Sanchez, Guangyou Li, Isabelle Schrauwen, Gao T. Wang, Andrew T. Dewan, Suzanne M. Leal
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Age-related (AR) hearing loss (HL) is the most common sensory impairment with heritability of 55%. The aim of this study was to identify genetic variants on chromosome X associated with ARHL through the analysis of data obtained from the UK Biobank.
Externí odkaz:
https://doaj.org/article/4d53963c456f47a194dd2ae3d31d2082
Autor:
Lorraine N. Clark, Yizhe Gao, Gao T. Wang, Nora Hernandez, Allison Ashley-Koch, Joseph Jankovic, Ruth Ottman, Suzanne M. Leal, Sandra M. Barral Rodriguez, Elan D. Louis
Publikováno v:
EBioMedicine, Vol 85, Iss , Pp 104290- (2022)
Summary: Background: Essential tremor (ET), one of the most common neurological disorders, has a phenotypically heterogeneous presentation characterized by bilateral kinetic tremor of the arms and, in some patients, tremor involving other body region
Externí odkaz:
https://doaj.org/article/74a34b989b824a7f80bc46af3f7d296d
Autor:
Abdoulaye Yalcouyé, Oumou Traoré, Salimata Diarra, Isabelle Schrauwen, Kevin Esoh, Magda Kamila Kadlubowska, Thashi Bharadwaj, Samuel Mawuli Adadey, Mohamed Kéita, Cheick O. Guinto, Suzanne M. Leal, Guida Landouré, Ambroise Wonkam
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 7, Pp n/a-n/a (2022)
Abstract Background Branchio‐otic syndrome (BO) is one of the most common types of syndromic hearing impairment (HI) with an incidence of 1/40,000 globally. It is an autosomal dominant disorder typically characterized by the coexistence of branchia
Externí odkaz:
https://doaj.org/article/ca03eeb61eff4b5fbd4945c6bd94d3c1
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:
Zhiying Xie, Chengyue Sun, Siwen Zhang, Yilin Liu, Meng Yu, Yiming Zheng, Lingchao Meng, Anushree Acharya, Diana M Cornejo‐Sanchez, Gao Wang, Wei Zhang, Isabelle Schrauwen, Suzanne M. Leal, Zhaoxia Wang, Yun Yuan
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 2041-2046 (2020)
Abstract The precise genetic diagnosis of dystrophinopathies can be challenging, largely due to rare deep intronic variants and more complex structural variants (SVs). We report on the genetic characterization of a dystrophinopathy patient. He remain
Externí odkaz:
https://doaj.org/article/ffbaa68e3f9e49fe931eca5411b5b6fc