Isabelle Thiffault

6.2k citations

65 papers · 1.4k indexed · h-index 23

Impact in

Clinical Biochemistry top 5%
- Metabolism and Genetic Disorders
Genetics top 5%
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities

Papers in

Genetics 24
- Genomics and Rare Diseases 14
- Genomic variations and chromosomal abnormalities 9
- Genetics and Neurodevelopmental Disorders 9
Cellular and Molecular Neuroscience 11
- Genetic Neurodegenerative Diseases 8

Co-authors: Emily Farrow Carol Saunders Neil Miller Bernard Brais Eric A. Shoubridge Stephen F. Kingsmore Martine Tétreault Florin Sasarman
Journals: Human Mutation (7 papers)Neurogenetics (4 papers)The American Journal of Human Genetics (3 papers)Brain (3 papers)Clinical Genetics (3 papers)
Partner nations: United States Canada Italy

In The Last Decade

Isabelle Thiffault

63 papers receiving 1.3k citations

Peers

Countries citing papers authored by Isabelle Thiffault

Since Specialization

Citations

This map shows the geographic impact of Isabelle Thiffault's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Isabelle Thiffault with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Isabelle Thiffault more than expected).

Fields of papers citing papers by Isabelle Thiffault

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Isabelle Thiffault. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Isabelle Thiffault. The network helps show where Isabelle Thiffault may publish in the future.

Co-authors

The 25 scholars most cited alongside Isabelle Thiffault, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Isabelle Thiffault Line = papers co-authored together Isabelle Thiffault links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes The Journal of Pediatrics ·Erica Sanford Kobayashi, Gota TAKAHASHI, Yael Dinur Schejter, Christine Makowski, Verena Kraus, Nanda Ramchandar, Vardiella Meiner, Isabelle Thiffault, Tiina Saarenpää, Julie A. Cakici, Stephen F. Kingsmore, Matias Wagner, Nikolaus Rieber, Matthew N. Bainbridge	2024	2
2	Complex trait associations in rare diseases and impacts on Mendelian variant interpretation Nature Communications ·Craig Smail, Bing Ge, Kim Jae Kwan, Андріанна БАДИДА, Warren Cheung, Jeffrey Johnston, M. Gilmore, Keith Feldman, Ana S.A. Cohen, Emily Farrow, Isabelle Thiffault, Elin Grundberg, Tomi Pastinen	2024	3
3	Clinical Course of A Patient With Agammaglobulinemia Caused By SLC39A7 Defect Clinical Immunology ·Db B. Ingham, Emily Farrow, Girson Sales, Isabelle Thiffault, Nikita Raje	2023	0
4	Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing The American Journal of Human Genetics ·Arjun K. Fontaine, John Harting, Emily Farrow, Isabelle Thiffault, Dalia Kasperavičiūtė, Alexander Hoischen, Christian Gilissen, Luz Amparo Hernández, Michael A. Eberle	2023	36
5	Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report Frontiers in Neurology ·Oliver Beverly-Ann, 恵末永, Maxime Pinard, Luan T. Tran, Kether Guerrero, Chitra Prasad, Asuri N. Prasad, Tomi Pastinen, Isabelle Thiffault, Benoit Coulombe, Geneviève Bernard	2023	4
6	Phenotypic expansion and variable expressivity in individuals with JARID2 ‐related intellectual disability: A case series Clinical Genetics ·Maxime Cadieux‐Dion, Emily Farrow, Isabelle Thiffault, Ana S.A. Cohen, 张朝胜, 範和林, Jun-Hyung Jeon, Kendra Engleman, Dihong Zhou, Lei Zhang, Elena Repnikova, Shivarajan Amudhavalli, Carol Saunders	2022	2
7	Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing Journal of Molecular Diagnostics ·Isxakova Gulbaxor Ismailovna, Maxime Cadieux‐Dion, Byunggil Yoo, Neil Miller, Ana S.A. Cohen, Lee Zellmer, S. Kurz, Emily Farrow, Isabelle Thiffault, Elena Repnikova, Linda D. Cooley, Joseph T. Alaimo, Binu Porath, John Herriges, Carol Saunders, Midhat S. Farooqi	2021	12
8	Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care Genetics in Medicine ·Courtney Berrios, Emily A. Hurley, Laurel K. Willig, Isabelle Thiffault, Carol Saunders, Tomi Pastinen, Kathy Goggin, Emily Farrow	2021	13
9	Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype Human Mutation ·Simon Lebaron, Marie-Françoise O’Donohue, Anjan Banerjee, Kendra Engleman, Jane Juusola, Nicole P. Safina, Isabelle Thiffault, 栄桓鄭, Pierre‐Emmanuel Gleizes	2021	5
10	Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing Molecular Case Studies ·Isabelle Thiffault, Andrea M. Atherton, Bryce A. Heese, Ahmed Abdelmoity, Sandrine Traoré, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Carol Saunders	2020	4
11	MAGEL2 ‐related disorders: A study and case series Clinical Genetics ·Elahe Asheghmadine, Rongrong Jie, Claudia Patricia Brunal Morales, Gerco den Hartog, Isabelle Thiffault, Laura Cross, Shivarajan Amudhavalli, Shuna Sun, María Palomares‐Bralo, Sixto García‐Miñáur, Fernando Santos‐Simarro, Zöe Powis, Wendy Alcaraz, Sha Tang, Julie A. Jurgens, Brenda J. Barry, Eleina England, Elizabeth C. Engle, Kuryozova Dilfuza Amanbayevna, Robert Roger Lebel	2019	27
12	Clinical genome sequencing in an unbiased pediatric cohort Genetics in Medicine ·Isabelle Thiffault, Emily Farrow, Lee Zellmer, Courtney Berrios, Neil Miller, Margaret Gibson, Neven Vlakić, 林太郎原口, B. Batko, Sarah Soden, Carol Saunders	2018	31
13	Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease BMC Medical Genetics ·Isabelle Thiffault, Britton Zuccarelli, 张朝胜, Xuan Yuan, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Ahmed Abdelmoity, Robert A. Brodsky, Carol Saunders	2017	11
14	Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A American Journal of Medical Genetics Part A ·Domenico Chiarella, Robert L. Conway, Isabelle Thiffault, Carol Saunders, Emily Farrow, John H. Adams, Helga V. Toriello	2016	27
15	CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria The American Journal of Human Genetics ·Carol Saunders, Laurie D. Smith, Flemming Wibrand, Kirstine Ravn, Peter Bross, Isabelle Thiffault, Mette Christensen, Andrea M. Atherton, Emily Farrow, Neil Miller, Stephen F. Kingsmore, Elsebet Østergaard	2015	44
16	Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans PLoS Biology ·Vafa Bayat, Isabelle Thiffault, Manish Jaiswal, Martine Tétreault, Taraka Donti, Florin Sasarman, Geneviève Bernard, Lu Zhang, Marie‐Josée Dicaire, Jean Mathieu, Michel Vanasse, Jean‐Pierre Bouchard, Marie‐France Rioux, Charles Marques Lourenço, Zhihong Li, Claire Haueter, Eric A. Shoubridge, Brett H. Graham, Bernard Brais, Hugo J. Bellen	2012	121
17	A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia Human Mutation ·Florin Sasarman, Tamiko Nishimura, Isabelle Thiffault, Eric A. Shoubridge	2012	41
18	Founder Mutation for a-sarcoglycan-LGMD2D in a Magdalen Islands Acadian Cluster Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ·Martine Tétreault, Myriam Srour, 勝夫福田, Isabelle Thiffault, Esteban Iconomopulos, Yves Robitaille, R C Archibald, Bernard Brais	2011	10
19	Carriers of RecessiveWNK1/HSN2Mutations for Hereditary Sensory and Autonomic Neuropathy Type 2 (HSAN2) Are More Sensitive to Thermal Stimuli Journal of Neuroscience ·Marco L. Loggia, M. Catherine Bushnell, Martine Tétreault, Isabelle Thiffault, Claude Bhérer, Christian Wagner, Michelle Picard, 万祎 WAN Yi, Marie‐Josée Dicaire, Esteban Iconomopulos, Jeffrey S. Mogil, Bernard Brais	2009	14
20	The Value of Multi-Modal Gene Screening in HNPCC in Quebec: Three Mutations in Mismatch Repair Genes that would have not been Correctly Identified by Genomic DNA Sequencing Alone Familial Cancer ·Elena Mazzilli, Lili Li, Isabelle Thiffault, Philip H. Gordon, Elizabeth MacNamara, Nora Wong, Hyun Kang, Lidia Kasprzak, George Chong, William D. Foulkes	2006	6

About Isabelle Thiffault

Isabelle Thiffault is a scholar working on Genetics, Cellular and Molecular Neuroscience, Clinical Biochemistry, Molecular Biology and Genetics, having authored 65 papers that have together received 1.4k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (14 papers), Mitochondrial Function and Pathology (14 papers), RNA modifications and cancer (12 papers), RNA regulation and disease (10 papers), Genomic variations and chromosomal abnormalities (9 papers), Genetics and Neurodevelopmental Disorders (9 papers), Genetic Neurodegenerative Diseases (8 papers) and RNA Research and Splicing (7 papers). The work is most often cited by research in Clinical Biochemistry (132 citations), Genetics (482 citations), Cellular and Molecular Neuroscience (224 citations), Molecular Biology (822 citations) and Genetics (97 citations). Isabelle Thiffault has collaborated with scholars based in United States, Canada and Italy. Frequent co-authors include Emily Farrow, Carol Saunders, Neil Miller, Bernard Brais, Eric A. Shoubridge, Stephen F. Kingsmore, Martine Tétreault, Florin Sasarman, Laurie D. Smith and Lee Zellmer. Their work appears in journals such as Human Mutation, Neurogenetics, The American Journal of Human Genetics, Brain and Clinical Genetics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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