Isabelle Schrauwen

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 44

Top Venues

Genes

BioMed research international

Brain communications

Molecular genetics & genomic medicine

Baylor College of Medicine

University of Antwerp (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Baylor College of Medicine Mar 20 2017 - Mar 08 2019

United States

Assistant Professor :: Human and Molecular Genetics

Translational Genomics Research Institute Jul 01 2015 - Mar 19 2017

United States

Research Assistant Professor :: Neurogenomics

Education History

University of Antwerp Sep 01 2005 - May 03 2010

Belgium

PHD :: Department of Medical Genetics

Publications

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
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders. Scientific reports 14 (1) (2024)
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
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders. Scientific reports 14 (1) (2024)
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
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders. Scientific reports 14 (1) (2024)
Irma Järvelä, Ritva Paetau, Yasmin Rajendran, Anushree Acharya, Thashi Bharadwaj, Suzanne M Leal, Anna-Elina Lehesjoki, Maarit Palomäki, Isabelle Schrauwen
Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort. Brain communications 6 (3) (2024)
Irma Järvelä, Ritva Paetau, Yasmin Rajendran, Anushree Acharya, Thashi Bharadwaj, Suzanne M Leal, Anna-Elina Lehesjoki, Maarit Palomäki, Isabelle Schrauwen
Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort. Brain communications 6 (3) (2024)
Irma Järvelä, Ritva Paetau, Yasmin Rajendran, Anushree Acharya, Thashi Bharadwaj, Suzanne M Leal, Anna-Elina Lehesjoki, Maarit Palomäki, Isabelle Schrauwen
Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort. Brain communications 6 (3) (2024)
Irma Järvelä, Ritva Paetau, Yasmin Rajendran, Anushree Acharya, Thashi Bharadwaj, Suzanne M Leal, Anna-Elina Lehesjoki, Maarit Palomäki, Isabelle Schrauwen
Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort. Brain communications 6 (3) (2024)
Abrar Hussain, Anushree Acharya, Thashi Bharadwaj, University Of Washington Center For Mendelian Genomics, Regie Lyn P Santos-Cortez, Abdul Khaliq, Asif Mir, Isabelle Schrauwen
A Novel Variant in VPS13B Underlying Cohen Syndrome. BioMed research international 2023 (2023)
Abrar Hussain, Anushree Acharya, Thashi Bharadwaj, University Of Washington Center For Mendelian Genomics, Regie Lyn P Santos-Cortez, Abdul Khaliq, Asif Mir, Isabelle Schrauwen
A Novel Variant in VPS13B Underlying Cohen Syndrome. BioMed research international 2023 (2023)
Abrar Hussain, Anushree Acharya, Thashi Bharadwaj, University Of Washington Center For Mendelian Genomics, Regie Lyn P Santos-Cortez, Abdul Khaliq, Asif Mir, Isabelle Schrauwen
A Novel Variant in VPS13B Underlying Cohen Syndrome. BioMed research international 2023 (2023)
Abrar Hussain, Anushree Acharya, Thashi Bharadwaj, University Of Washington Center For Mendelian Genomics, Regie Lyn P Santos-Cortez, Abdul Khaliq, Asif Mir, Isabelle Schrauwen
A Novel Variant in VPS13B Underlying Cohen Syndrome. BioMed research international 2023 (2023)
Tommi Salokivi, Riitta Parkkola, Yasmin Rajendran, Thashi Bharadwaj, Anushree Acharya, Suzanne M Leal, Irma Järvelä, Maria Arvio, Isabelle Schrauwen
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria. American journal of medical genetics. Part A (2023)
Rabia Faridi, Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy E Turriff, Keith Pelstring, Bin Guan, Amelia Naik, Andrew J Griffith, Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Gordon A Awandare, Robert J Morell, Ekaterini Tsilou, Amanda G Noyes, Laura A G Sulmonte, Ambroise Wonkam, Isabelle Schrauwen, Suzanne M Leal, Hela Azaiez, Carmen C Brewer, Sheikh Riazuddin, Robert Hufnagel, Michael Hoa, Wadih M Zein, J Karl de Dios, Thomas B Friedman
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clinical genetics (2023)
Eric Frankel, Avijit Podder, Megan Sharifi, Roshan Pillai, Newell Belnap, Keri Ramsey, Julius Dodson, Pooja Venugopal, Molly Brzezinski, Lorida Llaci, Brittany Gerald, Gabrielle Mills, Meredith Sanchez-Castillo, Chris D Balak, Szabolcs Szelinger, Wayne M Jepsen, Ashley L Siniard, Ryan Richholt, Marcus Naymik, Isabelle Schrauwen, David W Craig, Ignazio Stefano Piras, Matthew J Huentelman, Nicholas J Schork, Vinodh Narayanan, Sampathkumar Rangasamy
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders. Cells 12 (10) (2023)
Rabia Faridi, Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy E Turriff, Keith Pelstring, Bin Guan, Amelia Naik, Andrew J Griffith, Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Gordon Akanzuwine Awandare, Robert J Morell, Ekaterini Tsilou, Amanda G Noyes, Laura Anne Goodell Sulmonte, Ambroise Wonkam, Isabelle Schrauwen, Regie Lyn P Santos-Cortez, Hela Azaiez, Carmen C Brewer, Sheikh Riazuddin, Robert B Hufnagel, Michael Hoa, Wadih M Zein, J Karl de Dios, Thomas B Friedman
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clinical genetics (2023)
Lisse J M Tavernier, Thomas Vanpoucke, Isabelle Schrauwen, Guy Van Camp, Erik Fransen
Targeted Resequencing of Otosclerosis Patients from Different Populations Replicates Results from a Previous Genome-Wide Association Study. Journal of clinical medicine 11 (23) (2022)
Diana M Cornejo-Sanchez, Anushree Acharya, Thashi Bharadwaj, Lizeth Marin-Gomez, Pilar Pereira-Gomez, Liz M Nouel-Saied, null 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
SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families. Genes 13 (5) (2022)
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
A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family. Molecular genetics & genomic medicine 10 (7) (2022)
Zhiying Xie, Chengyue Sun, Chang Liu, Zhihao Xie, Luhua Wei, Jiaxi Yu, Chen Ling, Xuejun Guo, Yilin Liu, Meng Yu, Yinglin Leng, Lingchao Meng, Yunchuang Sun, Jianwen Deng, Suzanne M Leal, Isabelle Schrauwen, Zhaoxia Wang, Yun Yuan
Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants. Journal of neurology (2022)
Lisse J M Tavernier, Thomas Vanpoucke, Isabelle Schrauwen, Guy Van Camp, Erik Fransen
Targeted Resequencing of Otosclerosis Patients from Different Populations Replicates Results from a Previous Genome-Wide Association Study. Journal of clinical medicine 11 (23) (2022)
Thashi Bharadwaj, Isabelle Schrauwen, Anushree Acharya, Liz M Nouel Saied, Marja-Leena Väisänen, Minna Kraatari, Elisa Rahikkala, Irma Jarvela, Jouko Kotimäki, Regie Lyn P Santos-Cortez
Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant. Molecular genetics & genomic medicine 10 (3) (2022)
Magda K Kadlubowska, Isabelle Schrauwen
Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology. Genes 13 (2) (2022)
Lisse J M Tavernier, Thomas Vanpoucke, Isabelle Schrauwen, Guy Van Camp, Erik Fransen
Targeted Resequencing of Otosclerosis Patients from Different Populations Replicates Results from a Previous Genome-Wide Association Study. Journal of clinical medicine 11 (23) (2022)
Khurram Liaqat, Shabir Hussain, Anushree Acharya, Abdul Nasir, Thashi Bharadwaj, Muhammad Ansar, Sulman Basit, Isabelle Schrauwen, Wasim Ahmad, Suzanne M Leal
Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family. Genes 13 (4) (2022)
Anushree Acharya, Haluk Kavus, Patrick Dunn, Abdul Nasir, Leandra Folk, Kara Withrow, Ingrid M Wentzensen, Maura R Z Ruzhnikov, Camille Fallot, Thomas Smol, Mélanie Rama, Kathleen Brown, Sandra Whalen, Alban Ziegler, Magali Barth, Anna Chassevent, Constance Smith-Hicks, Alexandra Afenjar, Thomas Courtin, Solveig Heide, Esperanza Font-Montgomery, Caleb Heid, J Austin Hamm, Donald R Love, Farouq Thabet, Vinod K Misra, Mitch Cunningham, Suzanne M Leal, Irma Jarvela, Elizabeth A Normand, Fanggeng Zou, Mayada Helal, Boris Keren, Erin Torti, Wendy K Chung, Isabelle Schrauwen
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. Journal of medical genetics (2021)
Khurram Liaqat, Shabir Hussain, Muhammad Bilal, Abdul Nasir, Anushree Acharya, Raja Hussain Ali, Shoaib Nawaz, Muhammad Umair, Isabelle Schrauwen, Wasim Ahmad, Suzanne M Leal
Correction: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment. Journal of human genetics (2021)
Adebolajo A Adeyemo, Rabia Faridi, Parna Chattaraj, Rizwan Yousaf, Risa Tona, Samuel Okorie, Thashi Bharadwaj, Liz M Nouel-Saied, Anushree Acharya, Isabelle Schrauwen, Robert J Morell, Regie Lyn P Santos-Cortez, Thomas B Friedman, Andrew J Griffith, Isabelle Roux
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. European journal of human genetics : EJHG (2021)
Hannaleena Kokkonen, Auli Siren, Tuomo Määttä, Magda Kamila Kadlubowska, Anushree Acharya, Liz M Nouel-Saied, Regie Lyn P Santos-Cortez, Irma Järvelä, Isabelle Schrauwen
Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders. Molecular genetics & genomic medicine (2021)
Noluthando Manyisa, Isabelle Schrauwen, Leonardo Alves de Souza Rios, Shaheen Mowla, Cedrik Tekendo-Ngongang, Kalinka Popel, Kevin Kum Esoh, Thashi Bharadwaj, Liz M Nouel Saied, Anushree Acharya, Abdul Nasir, Edmond Wonkam-Tingang, Carmen de Kock, Collet Dandara, Suzanne M Leal, Ambroise Wonkam
A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family. Genes 12 (11) (2021)
Irma Järvelä, Tuomo Määttä, Anushree Acharya, Juha Leppälä, Shalini N Jhangiani, Maria Arvio, Auli Siren, Minna Kankuri-Tammilehto, Hannaleena Kokkonen, Maarit Palomäki, Teppo Varilo, Mary Fang, Trevor D Hadley, Angad Jolly, Tarja Linnankivi, Ritva Paetau, Anni Saarela, Reetta Kälviäinen, Jan Olme, Liz M Nouel-Saied, Diana M Cornejo-Sanchez, Lorida Llaci, James R. Lupski, Jennifer E Posey, Regie Lyn P Santos-Cortez, Isabelle Schrauwen
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. Human genetics 140 (7) (2021)
Allan Thomas Højland, Lisse J M Tavernier, Isabelle Schrauwen, Manou Sommen, Vedat Topsakal, Isabelle Schatteman, Ingeborg Johanna Maria Dhooge, Alexander M Huber, Diego Zanetti, Henricus P M Kunst, Alexander Hoischen, Michael Bjørn Petersen, Guy Van Camp, Erik Fransen
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis. Human genetics (2021)
Edmond Wonkam-Tingang, Isabelle Schrauwen, Kevin Kum Esoh, Thashi Bharadwaj, Liz M Nouel Saied, Anushree Acharya, Abdul Nasir, Samuel Mawuli Adadey, Shaheen Mowla, Suzanne M Leal, Ambroise Wonkam
Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment. Genes 11 (11) (2020)
Szabolcs Szelinger, Jonida Krate, Keri Ramsey, Samuel P Strom, Perry B Shieh, Hane Lee, Newell Belnap, Christopher Balak, Ashley L Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ana M Claasen, Isabelle Schrauwen, Stanley F Nelson, Matthew J Huentelman, David W Craig, Samuel P Yang, Steven A Moore, Kumaraswamy Sivakumar, Vinodh Narayanan, Sampathkumar Rangasamy, null null
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1. Neurology. Genetics 6 (4) (2020)
Zhiying Xie, Liuqin Tang, Zhihao Xie, Chengyue Sun, Haoyue Shuai, Chao Zhou, Yilin Liu, Meng Yu, Yiming Zheng, Lingchao Meng, Wei Zhang, Suzanne M Leal, Zhaoxia Wang, Isabelle Schrauwen, Yun Yuan
Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the DMD Gene. Genes 11 (10) (2020)
Isabelle Schrauwen, Khurram Liaqat, Isabelle Schatteman, Thashi Bharadwaj, Abdul Nasir, Anushree Acharya, Wasim Ahmad, Guy Van Camp, Suzanne M Leal
Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment. Genes 11 (6) (2020)
Elina Kari, Lorida Llaci, John L Go, Marcus Naymik, James A Knowles, Suzanne M Leal, Sampath Rangasamy, Matthew J Huentelman, Rick A Friedman, Isabelle Schrauwen
A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss. Molecular genetics & genomic medicine 7 (12) (2019)
Hanne Valgaeren, Manou Sommen, Matthias Beyens, Geert Vandeweyer, Isabelle Schrauwen, Anne Schepers, Isabelle Schatteman, Vedat Topsakal, Ingeborg Johanna Maria Dhooge, Henricus P M Kunst, Diego Zanetti, Alexander M Huber, Alexander Hoischen, Erik Fransen, Guy Van Camp
Insufficient evidence for a role of SERPINF1 in otosclerosis. Molecular genetics and genomics : MGG 294 (4) (2019)
Imen Chakchouk, Di Zhang, Zhihui Zhang, Laurent C Francioli, Regie Lyn P Santos-Cortez, Isabelle Schrauwen, Suzanne M Leal
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry. European journal of human genetics : EJHG 27 (9) (2019)
Christopher Balak, Newell Belnap, Keri Ramsey, Shelagh Joss, Koen Devriendt, Marcus Naymik, Wayne Jepsen, Ashley L Siniard, Szabolcs Szelinger, Mary E Parker, Ryan Richholt, Tyler Izatt, Madison LaFleur, Panieh Terraf, Lorida Llaci, Matt De Both, Ignazio S Piras, Sampathkumar Rangasamy, Isabelle Schrauwen, David W Craig, Matt Huentelman, Vinodh Narayanan
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype. American journal of medical genetics. Part A 176 (7) (2019)
Nathan R Lindquist, Eric N Appelbaum, Anushree Acharya, Jeffrey T Vrabec, Suzanne M Leal, Isabelle Schrauwen
A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes. Case reports in genetics 2019 (2019)
Khurram Liaqat, Shabir Hussain, Muhammad Bilal, Abdul Nasir, Anushree Acharya, Raja Hussain Ali, Shoaib Nawaz, Muhammad Umair, Isabelle Schrauwen, Wasim Ahmad, Suzanne M Leal
Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment. Journal of human genetics 65 (2) (2019)
Rabia Faridi, Risa Tona, Alessandra Brofferio, Michael Hoa, Rafal Olszewski, Isabelle Schrauwen, Muhammad Z K Assir, Akhtar A Bandesha, Asma A Khan, Atteeq U Rehman, Carmen C Brewer, Wasim Ahmed, Suzanne M Leal, Sheikh Riazuddin, Steven E Boyden, Thomas B Friedman
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. Human mutation 40 (2) (2018)
Isabelle Schrauwen, Elina Kari, Jacob Mattox, Lorida Llaci, Joanna Smeeton, Marcus Naymik, David W Raible, James A Knowles, J Gage Crump, Matthew J Huentelman, Rick A Friedman
De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness. Human genetics 137 (6-7) (2018)
Beate Peter, Hope Lancaster, Caitlin Vose, Amna Fares, Isabelle Schrauwen, Matthew Huentelman
Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delays. American journal of medical genetics. Part A 173 (10) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Isabelle Schrauwen