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Last Name
Institution

Isabelle Thiffault, PhD, FACMGG

TitleDirector, Translational Genetics
InstitutionChildren's Mercy Kansas City
DepartmentPathology
Address2401 Gillham Rd
Kansas City MO 64108
ORCID ORCID Icon0000-0001-7987-6731 Additional info
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    Other Positions
    TitleAssistant Director
    InstitutionChildren's Mercy Kansas City
    DepartmentMolecular Genetics

    TitleAssociate Professor
    InstitutionUniversity of Missouri-Kansas City
    DepartmentFaculty of Medicine

    TitleEducation Assistant Professor
    InstitutionUniversity of Kansas Medical Center
    DepartmentPediatrics


    Collapse Biography 
    Collapse education and training
    Universite de Montreal, Montreal, CanadaPhD2009Molecular Genetics
    McGill University, Montreal, CanadaPost-Doctoral Program2012Mitochondrial disorders/Postgraduate Degree in Genetics
    Canadian College of Medical Genetics & Genomics, Montreal, CanadaFellowship2014Canadian College of Medical Genetics Fellowship in Molecular Genetics
    McGill University/Montreal Neurological Institute, Montreal, CanadaFellowship2014Molecular Genetics & Genomics
    Collapse credentials

    Collapse Overview 

    Collapse Research 
    Collapse research overview
    As the Director of Translational Genetics of the GMC, I had the opportunity to help shape the design of our program, including the bioinformatic tools used by our analysis team. These tools facilitated the implementation of rapid whole genome sequencing for acutely ill infants in our hospital. The analysis and interpretation of the genomes of the enrolled patients were co-led by me. This work led to a landmark proof-of-concept "STATSeq," a concept many labs have subsequently begun to emulate, albeit through exome sequencing. The GMC, our Genomic Answers for Kids (GA4K, https://www.childrensmercy.org/childrens-mercy-research-institute/studies-and-trials/genomic-answers-for-kids/) program is changing the landscape of pediatric genomics through what may be the most advanced system for rare disease diagnosis in the world. We have recruited over 10k individuals (>4.5 families) and surpassed 1,000 rare diagnoses through our groundbreaking work—far out-pacing other rare disease research programs—and continue to conduct cutting-edge science that has led to several “firsts” in the field of genomics research. We have produced more than 1,500 genomes through a state-of-the-art technique called HiFi sequencing (long read), the first to use 5-base sequencing. Following our research initiative, we recently completed the clinical validation of HiFi sequencing (long read) genome sequencing, and we are the first center offering it as clinical genomic testing for critically ill patients. I have subsequently published over 140 peer-reviewed articles and reviewed >50 scientific manuscripts. I have over 2870 citations and an h-index of 29.
    Collapse research activities and funding
    U24-HD093483     (Falk, Marni)Jul 1, 2022 - Jun 1, 2028
    National Institutes of Health (NIH)
    ClinGen Gene Curation Working Group and Clinical Domain Working Group Oversight Committee: mitochondrial diseases
    Role Description: Current Status: renewed. Total Amount Awarded: $385,581/year
    Role: Co-investigator

    1R01HD115359-01A1     (Grunberg, Elin)Apr 1, 2024 - Mar 1, 2029
    National Institutes of Health (NIH)
    5-base HiFi sequencing to advance the understanding of genetic determinants of pregnancy loss
    Role Description: Current Status: Awarded (scored 17th percentile) Total Amount Awarded: $3,968,262.00
    Role: Co-investigator

    1R01HD111570-01     (Pastinen, Tomi)Jul 1, 2024 - Jun 1, 2028
    National Institutes of Health (NIH)
    Unraveling the Genomic Causes for Unsolved Leukodystrophy Patients by HiFi-GS
    Role Description: Current Status: Awarded (scored 30th percentile) Total Amount Awarded: $3,669,885.00
    Role: Co-investigator

         (Verberg, Kaela)Sep 1, 2024 - Sep 1, 2025
    The LAM foundation
    Application of long read sequencing to identify genomic underpinnings of unsolved LAM
    Role Description: The objective of this study is to apply a new sequencing method, PacBio HiFi long-read sequencing, to identify mutations in lung tissue samples from cases of sporadic LAM. Our hypothesis is that unique genomic signatures comprised of somatic mutations outside of TSC1/TSC2 contribute to sporadic LAM disease manifestation.
    Role: Co-Principal Investigator

    1R01HD117565-01     (Grunberg, Elin)Jul 1, 2025 - Jul 1, 2029
    National Institutes of Health (NIH)
    Complete human parent-of-origin genome: functional signatures and developmental determinants of disease
    Role Description: pending support (scored 7th percentile)
    Role: Co-investigator

    Collapse Bibliography 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    List All   |   Timeline
    1. Anderson KJ, Thorolfsdottir ET, Nodelman IM, Halldorsdottir ST, Benonisdottir S, Alghamdi M, Almontashiri N, Barry BJ, Begemann M, Britton JF, Burke S, Cogne B, Cohen ASA, de Diego Bogu?? C, Eichler EE, Engle EC, Fahrner JA, Faivre L, Fradin M, Fuhrmann N, Gao CW, Garg G, Grecmalov? D, Grippa M, Harris JR, Hoekzema K, Hershkovitz T, Hubbard S, Janssens K, Jurgens JA, Kmoch S, Knopp C, Koptagel MA, Ladha FA, Lapunzina P, Lindau T, Meuwissen M, Minicucci A, Neuhaus E, Nizon M, Noskov? L, Park K, Patel C, Pfundt R, Prasun P, Rahner N, Robin NH, Ronspies C, Roohi J, Rosenfeld J, Saenz M, Saunders C, Stark Z, Thiffault I, Thull S, Velasco D, Velmans C, Verseput J, Vitobello A, Wang T, Weiss K, Wentzensen IM, Pilarowski G, Eysteinsson T, Gillentine M, Stef?nsson K, Helgason A, Bowman GD, Bjornsson HT. Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome. medRxiv. 2025 May 07. PMID: 40385454.
      View in: PubMed
    2. Chen X, Baker D, Dolzhenko E, Devaney JM, Noya J, Berlyoung AS, Brandon R, Hruska KS, Lochovsky L, Kruszka P, Newman S, Farrow E, Thiffault I, Pastinen T, Kasperaviciute D, Gilissen C, Vissers L, Hoischen A, Berger S, Vilain E, D?lot E, Eberle MA. Genome-wide profiling of highly similar paralogous genes using HiFi sequencing. Nat Commun. 2025 Mar 08; 16(1):2340. PMID: 40057485.
      View in: PubMed
    3. Wojcik MH, Clark RD, Elias AF, Genetti CA, Madden JA, Simpson D, Golkar L, Zalusky MP, Miller AL, Rodriguez A, Goffena J, Dash CA, Damaraju N, Gibson SB, Storz SH, Anderson Z, Gustafson JA, Thiffault I, Farrow EG, Pastinen T, Lin J, Huang J, Beggs AH, Agrawal PB, Miller DT, Miller DE. Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti. Res Sq. 2025 Jan 30. PMID: 39975911.
      View in: PubMed
    4. Spector BL, Yoo B, Miller N, Gaddis M, Thiffault I, Willig L. Association of Rare Variants in Kidney Developmental Genes With Chronic Kidney Disease and Blood Pressure: A UK Biobank Study. WMJ. 2025; 124(1):27-35. PMID: 40262004.
      View in: PubMed
    5. Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogn? B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necp?l J, Jech R, Winkelmann J, Kopru??kov? MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel CF, Lerner-Ellis J, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann APA, van der Schoot V, Brunet T, Bu?mann C, Mignot C, Zampino G, Wortmann SB, Mayr JA, Feichtinger RG, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Kr?ger E, B?zieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, K?ry S, Wang T. Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder. Ann Neurol. 2024 Sep 20. PMID: 39301775.
      View in: PubMed
    6. Smail C, Ge B, Keever-Keigher MR, Schwendinger-Schreck C, Cheung WA, Johnston JJ, Barrett C, Feldman K, Cohen ASA, Farrow EG, Thiffault I, Grundberg E, Pastinen T. Complex trait associations in rare diseases and impacts on Mendelian variant interpretation. Nat Commun. 2024 Sep 18; 15(1):8196. PMID: 39294130.
      View in: PubMed
    7. Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, Zaki MS, Suri M, Dominguez R, Elbendary HM, Alavi S, Abdel-Hamid MS, Morsy H, Mau-Them FT, Nizon M, Tesner P, Ryba L, Zafar F, Rana N, Saadi NW, Firoozfar Z, Gencpinar P, Unay B, Ustun C, Bruel AL, Coubes C, Stefanich J, Sezer O, Agolini E, Novelli A, Vasco G, Lettori D, Milh M, Villard L, Zeidler S, Opperman H, Strehlow V, Issa MY, El Khassab H, Chand P, Ibrahim S, Rashidi-Nezhad A, Miryounesi M, Larki P, Morrison J, Cristian I, Thiffault I, Bertsch NL, Noh GJ, Pappas J, Moran E, Marinakis NM, Traeger-Synodinos J, Hosseini S, Abbaszadegan MR, Caumes R, Vissers LELM, Neshatdoust M, Montazer Zohour M, El Fahime E, Canavati C, Kamal L, Kanaan M, Askander O, Voinova V, Levchenko O, Haider S, Halbach SS, Elias Maia R, Mansoor S, Jain V, Tawde S, Challa VSR, Gowda VK, Srinivasan VM, Victor LA, Pinero-Banos B, Hague J, ElAwady HA, Maria de Miranda Henriques-Souza A, Cheema HA, Anjum MN, Idkaidak S, Alqarajeh F, Atawneh O, Mor-Shaked H, Harel T, Zifarelli G, Bauer P, Kok F, Kitajima JP, Monteiro F, Josahkian J, Lesca G, Chatron N, Ville D, Murphy D, Neul JL, Mullegama SV, Begtrup A, Herman I, Mitani T, Posey JE, Tay CG, Javed I, Carr L, Kanani F, Beecroft F, Hane L, Abdelkreem E, Macek M, Bispo L, Elmaksoud MA, Hashemi-Gorji F, Pehlivan D, Amor DJ, Jamra RA, Chung WK, Ghayoor Karimiani E, Campeau PM, Alkuraya FS, Pagnamenta AT, Gleeson JG, Lupski JR, Striano P, Moreno-De-Luca A, Lafontaine DLJ, Houlden H, Maroofian R. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genet Med. 2025 Apr; 27(4):101251. PMID: 39275948.
      View in: PubMed
    8. Perrier S, Macintosh J, Misiaszek AD, Lambert G, Guerrero K, Tran LT, M?ller CW, Pastinen T, Maegawa GHB, Thiffault I, Bernard G. Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy. Hum Mutat. 2024; 2024:8807171. PMID: 40225923.
      View in: PubMed
    9. Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO, Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, W?nsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatr Neurol. 2024 Nov; 160:45-53. PMID: 39181022.
      View in: PubMed
    10. Alstrup M, Cesca F, Krawczun-Rygmaczewska A, L?pez-Men?ndez C, Pose-Utrilla J, Castberg FC, Bjerager MO, Finnila C, Kruer MC, Bakhtiari S, Padilla-Lopez S, Manwaring L, Keren B, Afenjar A, Galatolo D, Scalise R, Santorelli FM, Shillington A, Vezain M, Martinovic J, Stevens C, Gowda VK, Srinivasan VM, Thiffault I, Pastinen T, Baranano K, Lee A, Granadillo J, Glassford MR, Keegan CE, Matthews N, Saugier-Veber P, Iglesias T, ?stergaard E. Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases. Genet Med. 2024 Nov; 26(11):101219. PMID: 39033379.
      View in: PubMed
    11. Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, Cejudo L, Chong JX, De Luca C, Dean SJ, Egense A, Goel H, Guenzel AJ, H?ffmeier U, Legius E, Mancini GMS, Marcos-Alcalde I, Niclass T, Planes M, Redon S, Ros-Pardo D, Rouault K, Schot R, Schuhmann S, Shen JJ, Tao AM, Thiffault I, Van Esch H, Wentzensen IM, Barakat TS, M?ller RS, Gomez-Puertas P, Chung WK, Gardella E, T?mer Z. The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants. Clin Genet. 2024 Nov; 106(5):574-584. PMID: 38988293.
      View in: PubMed
    12. Kobayashi ES, Lotan NS, Schejter YD, Makowski C, Kraus V, Ramchandar N, Meiner V, Thiffault I, Farrow E, Cakici J, Kingsmore S, Wagner M, Rieber N, Bainbridge M. Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes. J Pediatr. 2024 Nov; 274:114180. PMID: 38972567.
      View in: PubMed
    13. Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA, Liu B, Majer O, Barton GM. Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans. J Exp Med. 2024 Aug 05; 221(8). PMID: 38780621.
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    14. Kalm T, Schob C, V?ller H, Gardeitchik T, Gilissen C, Pfundt R, Kl?ckner C, Platzer K, Klabunde-Cherwon A, Ries M, Syrbe S, Beccaria F, Madia F, Scala M, Zara F, Hofstede F, Simon MEH, van Jaarsveld RH, Oegema R, van Gassen KLI, Holwerda SJB, Barakat TS, Bouman A, van Slegtenhorst M, ?lvarez S, Fern?ndez-Ja?n A, Porta J, Accogli A, Mancardi MM, Striano P, Iacomino M, Chae JH, Jang S, Kim SY, Chitayat D, Mercimek-Andrews S, Depienne C, Kampmeier A, Kuechler A, Surowy H, Bertini ES, Radio FC, Mancini C, Pizzi S, Tartaglia M, Gauthier L, Genevieve D, Tharreau M, Azoulay N, Zaks-Hoffer G, Gilad NK, Orenstein N, Bernard G, Thiffault I, Denecke J, Herget T, Kort?m F, Kubisch C, B?hring R, Kindler S. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity. Am J Hum Genet. 2024 06 06; 111(6):1206-1221. PMID: 38772379.
      View in: PubMed
    15. De Pace R, Maroofian R, Paimboeuf A, Zamani M, Zaki MS, Sadeghian S, Azizimalamiri R, Galehdari H, Zeighami J, Williamson CD, Fleming E, Zhou D, Gannon JL, Thiffault I, Roze E, Suri M, Zifarelli G, Bauer P, Houlden H, Severino M, Patten SA, Farrow E, Bonifacino JS. Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics. Brain. 2024 May 03; 147(5):1751-1767. PMID: 38128568.
      View in: PubMed
    16. Cohen ASA, Berrios CD, Zion TN, Barrett CM, Moore R, Boillat E, Belden B, Farrow EG, Thiffault I, Zuccarelli BD, Pastinen T. Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations. Am J Hum Genet. 2024 05 02; 111(5):825-832. PMID: 38636509.
      View in: PubMed
    17. Bhat S, Rousseau J, Michaud C, Louren?o CM, Stoler JM, Louie RJ, Clarkson LK, Lichty A, Koboldt DC, Reshmi SC, Sisodiya SM, Hoytema van Konijnenburg EMM, Koop K, van Hasselt PM, D?murger F, Dubourg C, Sullivan BR, Hughes SS, Thiffault I, Tremblay ES, Accogli A, Srour M, Blunck R, Campeau PM. Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation. Am J Hum Genet. 2024 04 04; 111(4):761-777. PMID: 38503299.
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    18. Groza C, Schwendinger-Schreck C, Cheung WA, Farrow EG, Thiffault I, Lake J, Rizzo WB, Evrony G, Curran T, Bourque G, Pastinen T. Pangenome graphs improve the analysis of structural variants in rare genetic diseases. Nat Commun. 2024 Jan 22; 15(1):657. PMID: 38253606.
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    19. Smail C, Ge B, Keever-Keigher MR, Schwendinger-Schreck C, Cheung W, Johnston JJ, Barrett C, Feldman K, Cohen ASA, Farrow EG, Thiffault I, Grundberg E, Pastinen T. Complex trait associations in rare diseases and impacts on Mendelian variant interpretation. medRxiv. 2024 Jan 11. PMID: 38260377.
      View in: PubMed
    20. Macintosh J, Perrier S, Pinard M, Tran LT, Guerrero K, Prasad C, Prasad AN, Pastinen T, Thiffault I, Coulombe B, Bernard G. Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report. Front Neurol. 2023; 14:1254140. PMID: 37915380.
      View in: PubMed
    21. Liu Z, Xin B, Smith IN, Sency V, Szekely J, Alkelai A, Shuldiner A, Efthymiou S, Rajabi F, Coury S, Brownstein CA, Rudnik-Sch?neborn S, Bruel AL, Thevenon J, Zeidler S, Jayakar P, Schmidt A, Cremer K, Engels H, Peters SO, Zaki MS, Duan R, Zhu C, Xu Y, Gao C, Sepulveda-Morales T, Maroofian R, Alkhawaja IA, Khawaja M, Alhalasah H, Houlden H, Madden JA, Turchetti V, Marafi D, Agrawal PB, Schatz U, Rotenberg A, Rotenberg J, Mancini GMS, Bakhtiari S, Kruer M, Thiffault I, Hirsch S, Hempel M, St?hn LG, Haack TB, Posey JE, Lupski JR, Lee H, Sarn NB, Eng C, Gonzaga-Jauregui C, Zhang B, Wang H. 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. Hum Mol Genet. 2023 10 04; 32(20):2981-2995. PMID: 37531237.
      View in: PubMed
    22. Farrow E, Jay A, Means J, Younger S, Biswell R, Koseva B, Thiffault I, Pastinen T, Pappas K, Toriello H. Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq. Am J Med Genet A. 2023 12; 191(12):2908-2912. PMID: 37548286.
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    23. Bosch E, Popp B, G?se E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, Marcelis C, Baysal ?, Hartwich D, Holth?fer L, Isidor B, Cogne B, Wieczorek D, Capra V, Scala M, De Marco P, Ognibene M, Jamra RA, Platzer K, Carter LB, Kuismin O, van Haeringen A, Maroofian R, Valenzuela I, Cusc? I, Martinez-Agosto JA, Rabani AM, Mefford HC, Pereira EM, Close C, Anyane-Yeboa K, Wagner M, Hannibal MC, Zacher P, Thiffault I, Beunders G, Umair M, Bhola PT, McGinnis E, Millichap J, van de Kamp JM, Prijoles EJ, Dobson A, Shillington A, Graham BH, Garcia EJ, Galindo MK, Ropers FG, Nibbeling EAR, Hubbard G, Karimov C, Goj G, Bend R, Rath J, Morrow MM, Millan F, Salpietro V, Torella A, Nigro V, Kurki M, Stevenson RE, Santen GWE, Zweier M, Campeau PM, Severino M, Reis A, Accogli A, Vasileiou G. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genet Med. 2023 11; 25(11):100950. PMID: 37551667.
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    24. Chapleau A, Boucher RM, Pastinen T, Thiffault I, Gould PV, Bernard G. Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report. Front Cell Neurosci. 2023; 17:1216487. PMID: 37601282.
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    25. Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D, Elgersma Y, van Esbroeck ACM. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. Am J Hum Genet. 2023 08 03; 110(8):1414-1435. PMID: 37541189.
      View in: PubMed
    26. Calame DG, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Torres RJ, Prior C, G?mez-Gonz?lez C, Biskup S, Lupski JR, Maric D, Holmgren M, Regier D, Yano ST. Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023 08 01; 146(8):3162-3171. PMID: 37043503.
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    27. Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med. 2023 12; 25(12):100947. PMID: 37534744.
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    28. Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A, Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. Eur J Hum Genet. 2023 10; 31(10):1117-1124. PMID: 37500725.
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    29. Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, ?stergaard E, Nazaryan-Petersen L, Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabe de Angelis M, H?lter SM, Cheung HH, Gu S, Lupski JR. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023 08 03; 110(8):1394-1413. PMID: 37467750.
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    30. Potic A, Perrier S, Radovic T, Gavrilovic S, Ostojic J, Tran LT, Thiffault I, Pastinen T, Schiffmann R, Bernard G. Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature. Orphanet J Rare Dis. 2023 Jul 13; 18(1):187. PMID: 37443037.
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    111. Miller NA, Farrow EG, Gibson M, Willig LK, Twist G, Yoo B, Marrs T, Corder S, Krivohlavek L, Walter A, Petrikin JE, Saunders CJ, Thiffault I, Soden SE, Smith LD, Dinwiddie DL, Herd S, Cakici JA, Catreux S, Ruehle M, Kingsmore SF. A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases. Genome Med. 2015 Sep 30; 7:100. PMID: 26419432.
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    112. Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavall?e-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, M?t? A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR, Coulombe B, Bernard G. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nat Commun. 2015 Jul 07; 6:7623. PMID: 26151409.
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    113. Gutierrez M, Thiffault I, Guerrero K, Martos-Moreno G?, Tran LT, Benko W, van der Knaap MS, van Spaendonk RM, Wolf NI, Bernard G. Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy. Orphanet J Rare Dis. 2015 Jun 05; 10:69. PMID: 26045207.
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    114. Thiffault I, Saunders C, Jenkins J, Raje N, Canty K, Sharma M, Grote L, Welsh HI, Farrow E, Twist G, Miller N, Zwick D, Zellmer L, Kingsmore SF, Safina NP. A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes. BMC Med Genet. 2015 May 07; 16:31. PMID: 25948378.
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    115. Willig LK, Petrikin JE, Smith LD, Saunders CJ, Thiffault I, Miller NA, Soden SE, Cakici JA, Herd SM, Twist G, Noll A, Creed M, Alba PM, Carpenter SL, Clements MA, Fischer RT, Hays JA, Kilbride H, McDonough RJ, Rosterman JL, Tsai SL, Zellmer L, Farrow EG, Kingsmore SF. Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. Lancet Respir Med. 2015 May; 3(5):377-87. PMID: 25937001.
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    116. Saunders CJ, Moon SH, Liu X, Thiffault I, Coffman K, LePichon JB, Taboada E, Smith LD, Farrow EG, Miller N, Gibson M, Patterson M, Kingsmore SF, Gross RW. Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 ? recapitulate the mitochondriopathy of the homologous null mouse. Hum Mutat. 2015 Mar; 36(3):301-6. PMID: 25512002.
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    117. Sasarman F, Thiffault I, Weraarpachai W, Salomon S, Maftei C, Gauthier J, Ellazam B, Webb N, Antonicka H, Janer A, Brunel-Guitton C, Elpeleg O, Mitchell G, Shoubridge EA. The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1. Hum Mol Genet. 2015 May 15; 24(10):2841-7. PMID: 25652405.
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    118. Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M, Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. 2015 Feb 05; 96(2):258-65. PMID: 25597511.
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    119. Soden SE, Saunders CJ, Willig LK, Farrow EG, Smith LD, Petrikin JE, LePichon JB, Miller NA, Thiffault I, Dinwiddie DL, Twist G, Noll A, Heese BA, Zellmer L, Atherton AM, Abdelmoity AT, Safina N, Nyp SS, Zuccarelli B, Larson IA, Modrcin A, Herd S, Creed M, Ye Z, Yuan X, Brodsky RA, Kingsmore SF. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med. 2014 Dec 03; 6(265):265ra168. PMID: 25473036.
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    120. Maftei C, Rypens F, Thiffault I, Dub? J, Laberge AM, Lemyre E. Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition-clinical report and review of the literature. Prenat Diagn. 2015 Mar; 35(3):305-7. PMID: 25346098.
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    121. Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF. A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. Eur J Hum Genet. 2015 Sep; 23(9):1266-8. PMID: 25407000.
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    122. Schwartzentruber J, Buhas D, Majewski J, Sasarman F, Papillon-Cavanagh S, Thiffault I, Thiffaut I, Sheldon KM, Massicotte C, Patry L, Simon M, Zare AS, McKernan KJ, Michaud J, Boles RG, Deal CL, Desilets V, Shoubridge EA, Samuels ME. Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. Hum Mutat. 2014 Nov; 35(11):1285-9. PMID: 25130867.
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    123. Kashani A, Thiffault I, Dilenge ME, Saint-Martin C, Guerrero K, Tran LT, Shoubridge E, van der Knaap MS, Braverman N, Bernard G. A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy. Neurogenetics. 2014 Aug; 15(3):161-4. PMID: 24952175.
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    124. Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivi?re R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupr? N, Pr?vost C, Bouchard JP, Mathieu J, Brais B. Diversity of ARSACS mutations in French-Canadians. Can J Neurol Sci. 2013 Jan; 40(1):61-6. PMID: 23250129.
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    125. Sasarman F, Nishimura T, Thiffault I, Shoubridge EA. A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. Hum Mutat. 2012 Aug; 33(8):1201-6. PMID: 22504945.
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    126. Bayat V, Thiffault I, Jaiswal M, T?treault M, Donti T, Sasarman F, Bernard G, Demers-Lamarche J, Dicaire MJ, Mathieu J, Vanasse M, Bouchard JP, Rioux MF, Lourenco CM, Li Z, Haueter C, Shoubridge EA, Graham BH, Brais B, Bellen HJ. Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. PLoS Biol. 2012; 10(3):e1001288. PMID: 22448145.
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    127. T?treault M, Putorti ML, Thiffault I, Sylvain M, Venderver A, Schiffmann R, Brais B, Bernard G. TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1. Can J Neurol Sci. 2012 Jan; 39(1):122-3. PMID: 22384513.
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    128. T?treault M, Srour M, Allyson J, Thiffault I, Loisel L, Robitaille Y, Bouchard JP, Brais B. Founder mutation for a-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster. Can J Neurol Sci. 2011 Sep; 38(5):747-52. PMID: 21856579.
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    129. Valdmanis PN, Dupr? N, Lachance M, Stochmanski SJ, Belzil VV, Dion PA, Thiffault I, Brais B, Weston L, Saint-Amant L, Samuels ME, Rouleau GA. A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. Brain. 2011 Feb; 134(Pt 2):602-7. PMID: 21115467.
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    130. Bernard G, Thiffault I, Tetreault M, Putorti ML, Bouchard I, Sylvain M, Melan?on S, Laframboise R, Langevin P, Bouchard JP, Vanasse M, Vanderver A, S?bire G, Brais B. Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. Neurogenetics. 2010 Oct; 11(4):457-64. PMID: 20640464.
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    131. Chong G, Jarry J, Marcus V, Thiffault I, Winocour S, Monczak Y, Drouin R, Latreille J, Australie K, Bapat B, Gordon PH, Gigu?re Y, Gologan A, Galiatsatos P, Jass JR, Wong N, Zaor S, Palma L, Kasprzak L, Tischkowitz M, Foulkes WD. High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families. Hum Mutat. 2009 Aug; 30(8):E797-812. PMID: 19459153.
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    132. Loggia ML, Bushnell MC, T?treault M, Thiffault I, Bh?rer C, Mohammed NK, Kuchinad AA, Laferri?re A, Dicaire MJ, Loisel L, Mogil JS, Brais B. Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli. J Neurosci. 2009 Feb 18; 29(7):2162-6. PMID: 19228968.
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    133. Gosselin I, Thiffault I, T?treault M, Chau V, Dicaire MJ, Loisel L, Emond M, Senderek J, Mathieu J, Dupr? N, Vanasse M, Puymirat J, Brais B. Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. Neuromuscul Disord. 2008 Jun; 18(6):483-92. PMID: 18511281.
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    134. Dupr? N, Chrestian N, Thiffault I, Brais B, Rouleau GA, Bouchard JP. [Hereditary ataxias, spastic parapareses and neuropathies in Eastern Canada]. Rev Neurol (Paris). 2008 Jan; 164(1):12-21. PMID: 18342054.
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    135. Rossignol E, Mathieu J, Thiffault I, T?treault M, Dicaire MJ, Chrestian N, Dupr? N, Puymirat J, Brais B. A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians. Neurology. 2007 Nov 13; 69(20):1937-41. PMID: 17998485.
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    136. Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, T?treault M, Loisel L, Bouchard JP, Brais B. A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. Brain. 2007 Feb; 130(Pt 2):368-80. PMID: 17008331.
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    137. T?treault M, Duquette A, Thiffault I, Bherer C, Jarry J, Loisel L, Banwell B, D'Anjou G, Mathieu J, Robitaille Y, Vanasse M, Brais B. A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21. Brain. 2006 Aug; 129(Pt 8):2077-84. PMID: 16760198.
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    138. Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B. A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. Brain. 2006 Sep; 129(Pt 9):2332-40. PMID: 16672289.
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    139. McVety S, Li L, Thiffault I, Gordon PH, Macnamara E, Wong N, Australie K, Kasprzak L, Chong G, Foulkes WD. 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. Fam Cancer. 2006; 5(1):21-8. PMID: 16528605.
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    140. Sun S, Greenwood CM, Thiffault I, Hamel N, Chong G, Foulkes WD. The HNPCC associated MSH2*1906G-->C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population. J Med Genet. 2005 Oct; 42(10):766-8. PMID: 16199548.
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    141. Thiffault I, Schwartz CE, Der Kaloustian V, Foulkes WD. Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome. Am J Med Genet A. 2004 Oct 01; 130A(2):123-7. PMID: 15372512.
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    142. Thiffault I, Foulkes WD, Marcus VA, Farber D, Kasprzak L, MacNamara E, Wong N, Hutter P, Radice P, Bertario L, Chong G. Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families. Clin Genet. 2004 Aug; 66(2):137-43. PMID: 15253764.
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    143. Thiffault I, Hamel N, Pal T, McVety S, Marcus VA, Farber D, Cowie S, Desch?nes J, Meschino W, Odefrey F, Goldgar D, Graham T, Narod S, Watters AK, MacNamara E, Du Sart D, Chong G, Foulkes WD. Germline truncating mutations in both MSH2 and BRCA2 in a single kindred. Br J Cancer. 2004 Jan 26; 90(2):483-91. PMID: 14735197.
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    144. Kotar K, Hamel N, Thiffault I, Foulkes WD. The RNASEL 471delAAAG allele and prostate cancer in Ashkenazi Jewish men. J Med Genet. 2003 Mar; 40(3):e22. PMID: 12624151.
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    145. Foulkes WD, Thiffault I, Gruber SB, Horwitz M, Hamel N, Lee C, Shia J, Markowitz A, Figer A, Friedman E, Farber D, Greenwood CM, Bonner JD, Nafa K, Walsh T, Marcus V, Tomsho L, Gebert J, Macrae FA, Gaff CL, Paillerets BB, Gregersen PK, Weitzel JN, Gordon PH, MacNamara E, King MC, Hampel H, De La Chapelle A, Boyd J, Offit K, Rennert G, Chong G, Ellis NA. The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. Am J Hum Genet. 2002 Dec; 71(6):1395-412. PMID: 12454801.
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    146. Hutter P, Wijnen J, Rey-Berthod C, Thiffault I, Verkuijlen P, Farber D, Hamel N, Bapat B, Thibodeau SN, Burn J, Wu J, MacNamara E, Heinimann K, Chong G, Foulkes WD. An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1. J Med Genet. 2002 May; 39(5):323-7. PMID: 12011148.
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    147. Andermann A, Thiffault I, Wong N, Gordon P, MacNamara E, Chong G, Foulkes W. Multimodal molecular screening is required to improve the sensitivity of MLH1 and MSH2 mutation analysis. J Clin Oncol. 2002 Mar 15; 20(6):1705-7. PMID: 11896123.
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