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Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria
Author / Creator:Adeyemo, Adebolajo ; Faridi, Rabia ; Chattaraj, Parna ; Yousaf, Rizwan ; Tona, Risa ; Okorie, Samuel ; Bharadwaj, Thashi ; Nouel-Saied, Liz M. ; Acharya, Anushree ; Schrauwen, Isabelle ; Morell, Robert J. ; Leal, Suzanne M. ; Friedman, Thomas B. ; Griffith, Andrew J. ; Roux, Isabelle
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2022-01, Vol.30 (1), p.42-52
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Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment
Author / Creator:Adadey, Samuel M. ; Schrauwen, Isabelle ; Aboagye, Elvis Twumasi ; Bharadwaj, Thashi ; Esoh, Kevin K. ; Basit, Sulman ; Acharya, Anushree ; Nouel-Saied, Liz M. ; Liaqat, Khurram ; Wonkam-Tingang, Edmond ; Mowla, Shaheen ; Awandare, Gordon A. ; Ahmad, Wasim ; Leal, Suzanne M. ; Wonkam, Ambroise
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-12, Vol.66 (12), p.1169-1175
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Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era
Author / Creator:Xie, Zhiying ; Sun, Chengyue ; Liu, Yilin ; Yu, Meng ; Zheng, Yiming ; Meng, Lingchao ; Wang, Gao ; Cornejo-Sanchez, Diana M ; Bharadwaj, Thashi ; Yan, Jin ; Zhang, Lingxiang ; Pineda-Trujillo, Nicolas ; Zhang, Wei ; Leal, Suzanne M. ; Schrauwen, Isabelle ; Wang, Zhaoxia ; Yuan, Yun
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2021-11, Vol.58 (11), p.743-751
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A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa
Author / Creator:Sattar, Saira ; Bharadwaj, Thashi ; Kalsoom, Umm-e- ; Acharya, Anushree ; Khan, Saadullah ; Leal, Suzanne M. ; Schrauwen, Isabelle
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2025-02, Vol.18 (1), p.26-7, Article 26
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THBS1 is a new autosomal recessive non-syndromic hearing impairment gene
Author / Creator:Bharadwaj, Thashi ; Acharya, Anushree ; Khan, Fati Ullah ; Khan, Saadullah ; Ullah, Irfan ; Schrauwen, Isabelle ; Ahmad, Wasim ; Leal, Suzanne M.
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2024-12, Vol.17 (1), p.291-7, Article 291
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Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13
Author / Creator:Acharya, Anushree ; Raza, Syed Irfan ; Anwar, Muhammad Zeeshan ; Bharadwaj, Thashi ; Liaqat, Khurram ; Khokhar, Muhammad Akram Shahzad ; Everard, Jenna L. ; Nasir, Abdul ; Nickerson, Deborah A. ; Bamshad, Michael J. ; Ansar, Muhammad ; Schrauwen, Isabelle ; Ahmad, Wasim ; Leal, Suzanne M.
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-10, Vol.66 (10), p.1009-1018
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ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment
Author / Creator:Bharadwaj, Thashi ; Schrauwen, Isabelle ; Rehman, Sakina ; Liaqat, Khurram ; Acharya, Anushree ; Giese, Arnaud P. J. ; Nouel-Saied, Liz M. ; Nasir, Abdul ; Everard, Jenna L. ; Pollock, Lana M. ; Zhu, Shaoyuan ; Bamshad, Michael J. ; Nickerson, Deborah A. ; Ali, Raja Hussain ; Ullah, Asmat ; Wali, Abdul ; Ali, Ghazanfar ; Santos-Cortez, Regie Lyn P. ; Ahmed, Zubair M. ; McDermott, Brian M. ; Ansar, Muhammad ; Riazuddin, Saima ; Ahmad, Wasim ; Leal, Suzanne M.
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2022-01, Vol.30 (1), p.22-33
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A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana
Author / Creator:Adadey, Samuel Mawuli ; Aboagye, Elvis Twumasi ; Esoh, Kevin ; Acharya, Anushree ; Bharadwaj, Thashi ; Lin, Nicole S. ; Amenga-Etego, Lucas ; Awandare, Gordon A. ; Schrauwen, Isabelle ; Leal, Suzanne M. ; Wonkam, Ambroise
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2022-11, Vol.15 (1), p.237-237, Article 237
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Correction: Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13
Author / Creator:Acharya, Anushree ; Raza, Syed Irfan ; Anwar, Muhammad Zeeshan ; Bharadwaj, Thashi ; Liaqat, Khurram ; Khokhar, Muhammad Akram Shahzad ; Everard, Jenna L. ; Nasir, Abdul ; Nickerson, Deborah A. ; Bamshad, Michael J. ; Ansar, Muhammad ; Schrauwen, Isabelle ; Ahmad, Wasim ; Leal, Suzanne M.
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2021-10, Vol.66 (10), p.1019-1019
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Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes
Author / Creator:Wonkam, Ambroise ; Adadey, Samuel Mawuli ; Schrauwen, Isabelle ; Aboagye, Elvis Twumasi ; Wonkam-Tingang, Edmond ; Esoh, Kevin ; Popel, Kalinka ; Manyisa, Noluthando ; Jonas, Mario ; deKock, Carmen ; Nembaware, Victoria ; Cornejo Sanchez, Diana M. ; Bharadwaj, Thashi ; Nasir, Abdul ; Everard, Jenna L. ; Kadlubowska, Magda K. ; Nouel-Saied, Liz M. ; Acharya, Anushree ; Quaye, Osbourne ; Amedofu, Geoffrey K. ; Awandare, Gordon A. ; Leal, Suzanne M.
Publisher:London: Nature Publishing Group UK
Journal title:Communications biology, 2022-04, Vol.5 (1), p.369-16, Article 369
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Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant
Author / Creator:Bharadwaj, Thashi ; Schrauwen, Isabelle ; Acharya, Anushree ; Nouel‐Saied, Liz M. ; Väisänen, Marja‐Leena ; Kraatari, Minna ; Rahikkala, Elisa ; Jarvela, Irma ; Kotimäki, Jouko ; Leal, Suzanne M.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2022-03, Vol.10 (3), p.e1866-n/a
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A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family
Author / Creator:Yalcouyé, Abdoulaye ; Traoré, Oumou ; Diarra, Salimata ; Schrauwen, Isabelle ; Esoh, Kevin ; Kadlubowska, Magda Kamila ; Bharadwaj, Thashi ; Adadey, Samuel Mawuli ; Kéita, Mohamed ; Guinto, Cheick O. ; Leal, Suzanne M. ; Landouré, Guida ; Wonkam, Ambroise
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2022-07, Vol.10 (7), p.e1995-n/a
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Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly
Author / Creator:Bilal, Muhammad ; Khan, Hammal ; Khan, Muhammad Javed ; Haack, Tobias B. ; Buchert, Rebecca ; Liaqat, Khurram ; Ullah, Kifayat ; Ahmed, Sohail ; Bharadwaj, Thashi ; Acharya, Anushree ; Peralta, Susana ; Najumuddin ; Ali, Hamid ; Hasni, Muhammad Sharif ; Schrauwen, Isabelle ; Ullah, Asmat ; Ahmad, Wasim ; Leal, Suzanne M.
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2023-11, Vol.31 (11), p.1270-1274
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Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment
Author / Creator:Schrauwen, Isabelle ; Liaqat, Khurram ; Schatteman, Isabelle ; Bharadwaj, Thashi ; Nasir, Abdul ; Acharya, Anushree ; Ahmad, Wasim ; Van Camp, Guy ; Leal, Suzanne M.
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2020-06, Vol.11 (6), p.687
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A Novel Variant in VPS13B Underlying Cohen Syndrome
Author / Creator:Hussain, Abrar ; Acharya, Anushree ; Bharadwaj, Thashi ; Genomics, University Of Washington Center For Mendelian ; Leal, Suzanne M. ; Khaliq, Abdul ; Mir, Asif ; Schrauwen, Isabelle
Publisher:United States: Hindawi
Journal title:BioMed research international, 2023, Vol.2023 (1), p.9993801
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Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family
Author / Creator:Liaqat, Khurram ; Hussain, Shabir ; Acharya, Anushree ; Nasir, Abdul ; Bharadwaj, Thashi ; Ansar, Muhammad ; Basit, Sulman ; Schrauwen, Isabelle ; Ahmad, Wasim ; Leal, Suzanne M.
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-04, Vol.13 (4), p.662
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A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family
Author / Creator:Manyisa, Noluthando ; Schrauwen, Isabelle ; de Souza Rios, Leonardo Alves ; Mowla, Shaheen ; Tekendo-Ngongang, Cedrik ; Popel, Kalinka ; Esoh, Kevin ; Bharadwaj, Thashi ; Nouel-Saied, Liz M. ; Acharya, Anushree ; Nasir, Abdul ; Wonkam-Tingang, Edmond ; Kock, Carmen de ; Dandara, Collet ; Leal, Suzanne M. ; Wonkam, Ambroise
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-11, Vol.12 (11), p.1765
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Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment
Author / Creator:Wonkam-Tingang, Edmond ; Schrauwen, Isabelle ; Esoh, Kevin K. ; Bharadwaj, Thashi ; Nouel-Saied, Liz M. ; Acharya, Anushree ; Nasir, Abdul ; Adadey, Samuel M. ; Mowla, Shaheen ; Leal, Suzanne M. ; Wonkam, Ambroise
Publisher:MDPI AG
Journal title:Genes, 2020-11, Vol.11 (11), p.1249
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SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families
Author / Creator:Cornejo-Sanchez, Diana M. ; Acharya, Anushree ; Bharadwaj, Thashi ; Marin-Gomez, Lizeth ; Pereira-Gomez, Pilar ; Nouel-Saied, Liz M. ; Nickerson, Deborah A. ; Bamshad, Michael J. ; Mefford, Heather C. ; Schrauwen, Isabelle ; Carrizosa-Moog, Jaime ; Cornejo-Ochoa, William ; Pineda-Trujillo, Nicolas ; Leal, Suzanne M.
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-04, Vol.13 (5), p.754
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Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family
Author / Creator:Liaqat, Khurram ; Hussain, Shabir ; Acharya, Anushree ; Nasir, Abdul ; Bharadwaj, Thashi ; Ansar, Muhammad ; Basit, Sulman ; Schrauwen, Isabelle ; Ahmad, Wasim ; Leal, Suzanne M
Journal title:Genes, 2022, Vol.13 (4)
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Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria

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Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment

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Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era

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A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa

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THBS1 is a new autosomal recessive non-syndromic hearing impairment gene

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Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13

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ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment

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A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana

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Correction: Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13

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Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes

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Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant

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A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family

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Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly

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Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment

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A Novel Variant in VPS13B Underlying Cohen Syndrome

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Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family

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A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family

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Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment

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SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families

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Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family

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