Isabelle Schrauwen

Also affiliated with University of Phoenix, Columbia University Irving Medical Center, Phoenix College

NeuroscienceBiochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 33 papers. Top paper: “Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease”.

Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease

Acta Neuropathologica Communications(2020)10.1186/s40478-020-00950-5

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1.3DataRank · unranked

39 citations

Christiane Bleul, Isabelle Schrauwen, Joshua S. Talboom, Lorida Llaci, Matthew De Both +10 more

Variants of LRP2 , encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy

Clinical Genetics(2023)10.1111/cge.14312

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0.477DataRank · unranked

23 citations

Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy Turriff, Keith Pelstring +22 more

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

Communications Biology(2022)10.1038/s42003-022-03326-8

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0.464DataRank · unranked

21 citations

Samuel Mawuli Adadey, Isabelle Schrauwen, Elvis Twumasi Aboagye, Edmond Wonkam‐Tingang, Kevin Esoh +17 more

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

European Journal of Human Genetics(2021)10.1038/s41431-021-00913-x

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0.416DataRank · unranked

15 citations

Isabelle Schrauwen, Sakina Rehman, Khurram Liaqat, Anushree Acharya, Arnaud P. J. Giese +19 more

Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting

Genetics in Medicine(2022)10.1016/j.gim.2022.11.002

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0.396DataRank · unranked

13 citations

Nicki Tiffin, Gillian Riordan, Marie Wessels, Richard J. Burman, Miriam C. Aziz +49 more

ESHRD: deconvolution of brain homogenate RNA expression data to identify cell-type-specific alterations in Alzheimer’s disease

Aging(2020)10.18632/aging.102840

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0.361DataRank · unranked

7 citations

Christiane Bleul, Joshua S. Talboom, Matthew De Both, Isabelle Schrauwen, Glenda M. Halliday +5 more

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

Journal of Human Genetics(2021)10.1038/s10038-021-00922-0

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0.312DataRank · unranked

7 citations

Syed Irfan Raza, Muhammad Zeeshan Anwar, Thashi Bharadwaj, Khurram Liaqat, Muhammad Akram Shahzad Khokhar +9 more

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2024.12.012

N/A

0.292DataRank · unranked

6 citations

Anja Barešić, Iván K. Chinn, Jonathan May, Anu Goenka, Kate Chandler +91 more

Syntaxin 4 is essential for hearing in human and zebrafish

Human Molecular Genetics(2022)10.1093/hmg/ddac257

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0.208DataRank · unranked

3 citations

Amama Ghaffar, Thashi Bharadwaj, Khadim Shah, Sakina Rehman, Anushree Acharya +9 more

A Novel Variant in VPS13B Underlying Cohen Syndrome

BioMed Research International(2023)10.1155/2023/9993801

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0.165DataRank · unranked

2 citations

Anushree Acharya, Thashi Bharadwaj, Suzanne M. Leal, Abdul Khaliq, Asif Mir +2 more

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time

Genetics in Medicine(2025)10.1016/j.gim.2025.101392

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0.104DataRank · unranked

1 citations

Marina T. DiStefano, Andrea M. Oza, Pamela Ajuyah, Ryan Webb, Enyonam Edoh +76 more

Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100391

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0.104DataRank · unranked

1 citations

Isabelle Schrauwen, Oumou Traoré, Salia Bamba, Elvis Twumasi Aboagye, Anushree Acharya +14 more

Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort

Brain Communications(2024)10.1093/braincomms/fcae142

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0DataRank · unranked

1 citations

Ritva Paetau, Yasmin Rajendran, Anushree Acharya, Thashi Bharadwaj, Suzanne M. Leal +4 more

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

BMC Medical Genomics(2024)10.1186/s12920-024-02060-w

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0DataRank · unranked

1 citations

Anushree Acharya, Fati Ullah Khan, Saadullah Khan, Irfan Ullah, Isabelle Schrauwen +3 more

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

medRxiv(2024)10.1101/2024.10.10.24315152

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0DataRank · unranked

2 citations

Leigh Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea +26 more

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.02.005

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0DataRank · unranked

7 citations

Leigh Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea +41 more

The Diverse Genetic Landscape of Hearing Impairment in South African Families

Clinical Genetics(2025)10.1111/cge.14765

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0DataRank · unranked

3 citations

Anushree Acharya, Noluthando Manyisa, Elvis Twumasi Aboagye, Ramses Peigou Wonkam, Lettilia Xhakaza +6 more

Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda

BMC Medical Genomics(2025)10.1186/s12920-025-02153-0

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0DataRank · unranked

1 citations

Abdoulaye Yalcouyé, Elvis Twumasi Aboagye, Lettilia Xhakaza, Kalinka Popel, Norbert Dukuze +7 more

Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss

International Journal of Molecular Sciences(2025)10.3390/ijms26073337

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0DataRank · unranked

0 citations

Samuel Mawuli Adadey, Leonardo Alves de Souza Rios, Kevin Esoh, Edmond Wonkam‐Tingang, Lettilia Xhakaza +9 more

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.09.015

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0DataRank · unranked

0 citations

María E. Rodríguez-Ruiz, Eric N. Anderson, Agustí Rodríguez‐Palmero, Valentina Vélez-Santamaría, Agatha Schlüter +41 more

Issue Information

Human Mutation(2018)10.1002/humu.23568

N/A

0DataRank · unranked

0 citations

R. Donald Harvey, Tracy Dudding‐Byth, Liliana Catherine Patiño, Isabelle Beau, Adrien Morel +135 more

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

UNC Libraries(2025)10.17615/dy6f-xt03

N/A

0DataRank · unranked

0 citations

Benjamin Cogné, Rachel Rabin, E Kessler, Céline Chappé, Melanie Brügger +92 more

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

Genes(2020)10.3390/genes11111249

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0DataRank · unranked

20 citations

Isabelle Schrauwen, Kevin Esoh, Thashi Bharadwaj, Liz M. Nouel‐Saied, Anushree Acharya +6 more

Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex

Nature Communications(2020)10.1038/s41467-020-17105-8

N/A

0DataRank · unranked

27 citations

Apoorva Bharthur, Morgan Wolfgang, Vinodh Narayanan, Keri Ramsey, Newell Belnap +14 more

Transcriptional profiling of Multiple System Atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.02.11.944306

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0DataRank · unranked

5 citations

Christiane Bleul, Isabelle Schrauwen, Joshua S. Talboom, Lorida Llaci, Matthew De Both +10 more

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.11.003

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0DataRank · unranked

34 citations

Stéphanie Efthymiou, Simone Seiffert, Karen Vargas Parra, Sukyeong Lee, Alessia Nasca +35 more

A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family

Experimental Biology and Medicine(2021)10.1177/1535370221999746

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0DataRank · unranked

14 citations

Isabelle Schrauwen, Kevin Esoh, Thashi Bharadwaj, Liz M. Nouel‐Saied, Anushree Acharya +4 more

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria

European Journal of Human Genetics(2021)10.1038/s41431-021-00984-w

N/A

0DataRank · unranked

16 citations

Rabia Faridi, Parna Chattaraj, Rizwan Yousaf, Risa Tona, Samuel Okorie +10 more

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

Journal of Human Genetics(2021)10.1038/s10038-021-00954-6

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0DataRank · unranked

14 citations

Isabelle Schrauwen, Elvis Twumasi Aboagye, Thashi Bharadwaj, Kevin Esoh, Sulman Basit +10 more

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

Genes(2021)10.3390/genes12111765

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0DataRank · unranked

9 citations

Isabelle Schrauwen, Leonardo Alves de Souza Rios, Shaheen Mowla, Cedrik Tekendo‐Ngongang, Kalinka Popel +11 more

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

BMC Medical Genomics(2022)10.1186/s12920-022-01391-w

N/A

0DataRank · unranked

5 citations

Elvis Twumasi Aboagye, Kevin Esoh, Anushree Acharya, Thashi Bharadwaj, Nicole S. Lin +6 more

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

Molecular Genetics & Genomic Medicine(2022)10.1002/mgg3.1866

N/A

0DataRank · unranked

3 citations

Isabelle Schrauwen, Anushree Acharya, Liz M. Nouel‐Saied, Marja‐Leena Väisänen, Minna Kraatari‐Tiri +5 more

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.013

N/A

0DataRank · unranked

25 citations

Eva Jacobs, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene +95 more