Isabelle Thiffault

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 22 papers. Top paper: “BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms”.

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.003

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0DataRank · unranked

48 citations

Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia +48 more

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

EMBO Molecular Medicine(2020)10.15252/emmm.201911739

N/A

0DataRank · unranked

28 citations

Sara P. Abraham, Alexandru Niţă, Eva Hrubá, Marcela Buchtová, S. Paige Taylor +19 more

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Genome Medicine(2021)10.1186/s13073-021-00870-6

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0DataRank · unranked

117 citations

Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo +95 more

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

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0DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 more

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

Genetics in Medicine(2021)10.1038/s41436-021-01212-y

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0DataRank · unranked

17 citations

Najim Lahrouchi, Fernanda M. Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf +49 more

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Genetics in Medicine(2021)10.1016/j.gim.2021.10.014

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0DataRank · unranked

4 citations

Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily Farrow, Isabelle Thiffault +35 more

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

Journal of Medical Genetics(2022)10.1136/jmg-2022-108738

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0DataRank · unranked

7 citations

Tim Felger, Luca Schierbaum, Isabelle Thiffault, Tomi Pastinen, Maria Szczepańska +18 more

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.013

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0DataRank · unranked

43 citations

Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood +63 more

Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics

Brain(2023)10.1093/brain/awad427

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0DataRank · unranked

23 citations

Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha S. Zaki, Saeid Sadeghian +18 more

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

PLoS Genetics(2023)10.1371/journal.pgen.1010796

N/A

0DataRank · unranked

26 citations

Oscar A. Cabrera, Julia Hoefele, Dinu Antony, Kaman Wu, Michael W. Stuck +21 more

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

European Journal of Human Genetics(2023)10.1038/s41431-023-01434-5

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0DataRank · unranked

25 citations

Leticia S. Matsuoka, Michael March, Dong Li, Elly Brokamp, Sara Benito‐Sanz +32 more

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability

Brain(2023)10.1093/brain/awad124

N/A

0DataRank · unranked

13 citations

Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak +24 more

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

Human Molecular Genetics(2023)10.1093/hmg/ddad124

N/A

0DataRank · unranked

7 citations

Baozhong Xin, Iris Nira Smith, Valerie Sency, Julia Szekely, Anna Alkelai +49 more

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

The Journal of Experimental Medicine(2024)10.1084/jem.20232005

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0DataRank · unranked

37 citations

Julian A. Yano, John Huizar, Leianna C. Slayden, Madeleine A. Weiss, Elizabeth A Turcotte +93 more

Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.016

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0DataRank · unranked

21 citations

Courtney Berrios, Tricia Zion, Cassandra Barrett, Riley Moore, Emelia Boillat +6 more

Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Annals of Neurology(2024)10.1002/ana.27077

N/A

0DataRank · unranked

10 citations

Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert +74 more

Complex trait associations in rare diseases and impacts on Mendelian variant interpretation

Nature Communications(2024)10.1038/s41467-024-52407-1

N/A

0DataRank · unranked

9 citations

Bing Ge, Marissa R. Keever-Keigher, Carl Schwendinger-Schreck, Warren Cheung, Jeffrey Johnston +8 more

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Genetics in Medicine(2024)10.1016/j.gim.2024.101251

N/A

0DataRank · unranked

4 citations

Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou, Antonella Riva, Dana Marafi +95 more

Complex trait associations in rare diseases and impacts on Mendelian variant interpretation

medRxiv(2024)10.1101/2024.01.10.24301111

N/A

0DataRank · unranked

3 citations

Bing Ge, Marissa R. Keever-Keigher, Carl Schwendinger-Schreck, Warren Cheung, Jeffrey Johnston +8 more

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome

medRxiv(2025)10.1101/2025.05.06.25326635

N/A

0DataRank · unranked

2 citations

Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benónísdóttir, Malak Alghamdi +64 more

Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti

Research Square(2025)10.21203/rs.3.rs-5811417/v1

N/A

0DataRank · unranked

0 citations

Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson +21 more

Long-read sequencing is required for precision diagnosis of incontinentia pigmenti

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100468

N/A

0DataRank · unranked

0 citations

Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson +21 more