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Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria
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
Published in European journal of human genetics : EJHG (01.01.2022)
Published in European journal of human genetics : EJHG (01.01.2022)
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Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders
Schrauwen, Isabelle, Rajendran, Yasmin, Acharya, Anushree, Öhman, Susanna, Arvio, Maria, Paetau, Ritva, Siren, Auli, Avela, Kristiina, Granvik, Johanna, Leal, Suzanne M., Määttä, Tuomo, Kokkonen, Hannaleena, Järvelä, Irma
Published in Scientific reports (16.05.2024)
Published in Scientific reports (16.05.2024)
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Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment
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
Published in Journal of human genetics (01.12.2021)
Published in Journal of human genetics (01.12.2021)
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Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era
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
Published in Journal of medical genetics (01.11.2021)
Published in Journal of medical genetics (01.11.2021)
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A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa
Sattar, Saira, Bharadwaj, Thashi, Kalsoom, Umm-e-, Acharya, Anushree, Khan, Saadullah, Leal, Suzanne M., Schrauwen, Isabelle
Published in BMC medical genomics (04.02.2025)
Published in BMC medical genomics (04.02.2025)
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THBS1 is a new autosomal recessive non-syndromic hearing impairment gene
Bharadwaj, Thashi, Acharya, Anushree, Khan, Fati Ullah, Khan, Saadullah, Ullah, Irfan, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.
Published in BMC medical genomics (18.12.2024)
Published in BMC medical genomics (18.12.2024)
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Family history of Alzheimer’s disease alters cognition and is modified by medical and genetic factors
Talboom, Joshua S, Håberg, Asta, De Both, Matthew D, Naymik, Marcus A, Schrauwen, Isabelle, Lewis, Candace R, Bertinelli, Stacy F, Hammersland, Callie, Fritz, Mason A, Myers, Amanda J, Hay, Meredith, Barnes, Carol A, Glisky, Elizabeth, Ryan, Lee, Huentelman, Matthew J
Published in eLife (18.06.2019)
Published in eLife (18.06.2019)
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A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome
Malik, Madiha Amin, Saqib, Muhammad Arif Nadeem, Mientjes, Edwin, Acharya, Anushree, Alam, Muhammad Rizwan, Wallaard, Ilse, Schrauwen, Isabelle, Bamshad, Michael J., Santos-Cortez, Regie Lyn P., Elgersma, Ype, Leal, Suzanne M., Ansar, Muhammad
Published in European journal of human genetics : EJHG (01.12.2023)
Published in European journal of human genetics : EJHG (01.12.2023)
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Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland
Järvelä, Irma, Määttä, Tuomo, Acharya, Anushree, Leppälä, Juha, Jhangiani, Shalini N., Arvio, Maria, Siren, Auli, Kankuri-Tammilehto, Minna, Kokkonen, Hannaleena, Palomäki, Maarit, Varilo, Teppo, Fang, Mary, Hadley, Trevor D., Jolly, Angad, Linnankivi, Tarja, Paetau, Ritva, Saarela, Anni, Kälviäinen, Reetta, Olme, Jan, Nouel-Saied, Liz M., Cornejo-Sanchez, Diana M., Llaci, Lorida, Lupski, James R., Posey, Jennifer E., Leal, Suzanne M., Schrauwen, Isabelle
Published in Human genetics (01.07.2021)
Published in Human genetics (01.07.2021)
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Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13
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.
Published in Journal of human genetics (01.10.2021)
Published in Journal of human genetics (01.10.2021)
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Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda
Uwibambe, Esther, Yalcouyé, Abdoulaye, Aboagye, Elvis Twumasi, Xhakaza, Lettilia, Popel, Kalinka, Dukuze, Norbert, Bharadwaj, Thashi, de Kock, Carmen, Schrauwen, Isabelle, Leal, Suzanne M., Mutesa, Leon, Wonkam, Ambroise
Published in BMC medical genomics (13.05.2025)
Published in BMC medical genomics (13.05.2025)
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Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment
Fransen, Erik, Bonneux, Sarah, Corneveaux, Jason J, Schrauwen, Isabelle, Di Berardino, Federica, White, Cory H, Ohmen, Jeffrey D, Van de Heyning, Paul, Ambrosetti, Umberto, Huentelman, Matthew J, Van Camp, Guy, Friedman, Rick A
Published in European journal of human genetics : EJHG (01.01.2015)
Published in European journal of human genetics : EJHG (01.01.2015)
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Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex
Wie, Jinhong, Bharthur, Apoorva, Wolfgang, Morgan, Narayanan, Vinodh, Ramsey, Keri, Aranda, Kimberly, Zhang, Qi, Zhou, Yandong, Ren, Dejian
Published in Nature communications (03.07.2020)
Published in Nature communications (03.07.2020)
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FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice
Schrauwen, Isabelle, Giese, Arnaud PJ, Aziz, Abdul, Lafont, David Tino, Chakchouk, Imen, Santos‐Cortez, Regie Lyn P, Lee, Kwanghyuk, Acharya, Anushree, Khan, Falak Sher, Ullah, Asmat, Nickerson, Deborah A, Bamshad, Michael J, Ali, Ghazanfar, Riazuddin, Saima, Ansar, Muhammad, Ahmad, Wasim, Ahmed, Zubair M, Leal, Suzanne M
Published in Journal of bone and mineral research (01.02.2019)
Published in Journal of bone and mineral research (01.02.2019)
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Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment
Liaqat, Khurram, Hussain, Shabir, Bilal, Muhammad, Nasir, Abdul, Acharya, Anushree, Ali, Raja Hussain, Nawaz, Shoaib, Umair, Muhammad, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.
Published in Journal of human genetics (01.01.2020)
Published in Journal of human genetics (01.01.2020)
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Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry
Chakchouk, Imen, Zhang, Di, Zhang, Zhihui, Francioli, Laurent C., Santos-Cortez, Regie Lyn P., Schrauwen, Isabelle, Leal, Suzanne M.
Published in European journal of human genetics : EJHG (01.09.2019)
Published in European journal of human genetics : EJHG (01.09.2019)
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A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis
Højland, Allan Thomas, Tavernier, Lisse J. M., Schrauwen, Isabelle, Sommen, Manou, Topsakal, Vedat, Schatteman, Isabelle, Dhooge, Ingeborg, Huber, Alex, Zanetti, Diego, Kunst, Henricus P. M., Hoischen, Alexander, Petersen, Michael B., Van Camp, Guy, Fransen, Erik
Published in Human genetics (01.04.2022)
Published in Human genetics (01.04.2022)
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A Mutation in CABP2 , Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment
Schrauwen, Isabelle, Helfmann, Sarah, Inagaki, Akira, Predoehl, Friederike, Tabatabaiefar, Mohammad Amin, Picher, Maria Magdalena, Sommen, Manou, Zazo Seco, Celia, Oostrik, Jaap, Kremer, Hannie, Dheedene, Annelies, Claes, Charlotte, Fransen, Erik, Chaleshtori, Morteza Hashemzadeh, Coucke, Paul, Lee, Amy, Moser, Tobias, Van Camp, Guy
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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