Lucie Dupuis

ScholarGPS® ID: 88961208285763

Affiliation

Hospital for Sick Children, Toronto, Canada

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Medical Genetics | Mutation | Human Genetics | Molecular Genetics | Genetic Testing

Metrics Summary

Publication Count

Predicted Citations

1,500

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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P388: Noonan syndrome associated with a homozygous deep intronic variant in LZTR1 gene confirmed by RNA sequencing (journal article) Dupuis, Lucie \| Szuto, Anna \| Marshall, Christian \| Kyriakopoulou, Lianna \| Mendoza-Londono, Roberto \| McNiven, Vanda Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101282 Cite \| Source
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy (journal article) Shieh, Joseph T. \| Tintos-Hernandez, Jesus A. \| Murali, Chaya N. \| Penon-Portmann, Monica \| Flores-Mendez, Marco \| Santana, Adrian \| Bulos, Joshua A. \| Du, Kang \| Dupuis, Lucie \| Damseh, Nadirah \| ... \| Ortiz-González, Xilma R. Human Genetics and Genomics Advances, volume 4, issue 4, pages 100236- (2023). 10.1016/j.xhgg.2023.100236 Cited by (1) \| Cite \| Source
Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers–Danlos syndrome (journal article) Damseh, Nadirah \| Dupuis, Lucie \| O'Connor, Constance \| Oh, Rachel Youjin \| Wang, Yi Wen \| Stavropoulos, Dimitri James \| Schwartz, Sarah B. \| Mendoza‐Londono, Roberto American Journal of Medical Genetics Part A, volume 188, issue 5, pages 1376-1383 (2022). 10.1002/ajmg.a.62672 Cited by (3) \| Cite \| Source
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability (journal article) Hayeems, Robin Z. \| Luca, Stephanie \| Ungar, Wendy J. \| Venkataramanan, Viji \| Tsiplova, Kate \| Bashir, Naazish S. \| Costain, Gregory \| Inglese, Cara \| McNiven, Vanda \| Quercia, Nada \| ... \| Meyn, M. Stephen Genetics in Medicine, volume 24, issue 2, pages 430-438 (2022). 10.1016/j.gim.2021.10.005 Cited by (9) \| Cite \| Source
The phenotypic spectrum of AMER1 ‐related osteopathia striata with cranial sclerosis: The first Canadian cohort (journal article) Heikoop, David \| Brick, Lauren \| Chitayat, David \| Colaiacovo, Samantha \| Dupuis, Lucie \| Faghfoury, Hanna \| Goobie, Sharan \| Mendoza, Roberto \| Napier, Melanie \| Nowaczyk, Margaret \| ... \| Saleh, Maha American Journal of Medical Genetics Part A, volume 185, issue 12, pages 3793-3803 (2021). 10.1002/ajmg.a.62452 Cited by (2) \| Cite \| Source
Diagnostic utility of next-generation sequence genetic panel testing in children presenting with a clinically significant fracture history (journal article) Harrington, Jennifer \| AlSubaihin, Abdulmajeed \| Dupuis, Lucie \| Kannu, Peter \| Mendoza-Londono, Roberto \| Howard, Andrew Archives of Osteoporosis, volume 16, issue 1 (2021). 10.1007/s11657-021-00943-4 Cited by (2) \| Cite \| Source
A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies (journal article) Joynt, Alyssa C. M. \| Deshwar, Ashish R. \| Zon, Jessica \| Dupuis, Lucie \| Wherrett, Diane K. \| Mendoza‐Londono, Roberto Molecular Genetics & Genomic Medicine, volume 9, issue 11 (2021). 10.1002/mgg3.1821 Cite \| Source
Aplasia cutis congenita associated with a heterozygous loss‐of‐function UBA2 variant (journal article) Wang, Y. \| Dupuis, L. \| Jobling, R. \| Kannu, P. British Journal of Dermatology, volume 182, issue 3, pages 792-794 (2020). 10.1111/bjd.18594 Cited by (4) \| Cite \| Source
Novel c.G630A TCIRG1 mutation causes aberrant splicing resulting in an unusually mild form of autosomal recessive osteopetrosis (journal article) Zirngibl, Ralph A. \| Wang, Andrew \| Yao, Yeqi \| Manolson, Morris F. \| Krueger, Joerg \| Dupuis, Lucie \| Mendoza‐Londono, Roberto \| Voronov, Irina Journal of Cellular Biochemistry, volume 120, issue 10, pages 17180-17193 (2019). 10.1002/jcb.28979 Cited by (12) \| Cite \| Source
16q22.1 microdeletion and anticipatory guidance (journal article) Abdullah, Sarah \| Helal, Mayada \| Dupuis, Lucie \| Stavropoulos, D. James \| Louro, Pedro \| Ramos, Lina \| Mendoza‐Londono, Roberto American Journal of Medical Genetics Part A, volume 179, issue 7, pages 1287-1292 (2019). 10.1002/ajmg.a.61155 Cited by (1) \| Cite \| Source
Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease (journal article) Deshwar, Ashish R. \| Spielmann, Malte \| Vi, Lisa \| Mendoza‐Londono, Roberto \| Dupuis, Lucie \| Stimec, Jennifer \| Howard, Andrew \| Harrington, Jennifer \| Kannu, Peter American Journal of Medical Genetics Part A, volume 179, issue 4, pages 663-667 (2019). 10.1002/ajmg.a.61071 Cited by (2) \| Cite \| Source
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing (journal article) Costain, Gregory \| Jobling, Rebekah \| Walker, Susan \| Reuter, Miriam S. \| Snell, Meaghan \| Bowdin, Sarah \| Cohn, Ronald D. \| Dupuis, Lucie \| Hewson, Stacy \| Mercimek-Andrews, Saadet \| ... \| Marshall, Christian R. European Journal of Human Genetics, volume 26, issue 5, pages 740-744 (2018). 10.1038/s41431-018-0114-6 Cited by (81) \| Cite \| Source
Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X (journal article) Deshwar, Ashish R. \| Dupuis, Lucie \| Bergmann, Carsten \| Stavropoulos, James \| Mendoza‐Londono, Roberto American Journal of Medical Genetics Part A, volume 176, issue 2, pages 450-454 (2018). 10.1002/ajmg.a.38570 Cited by (3) \| Cite \| Source
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions (journal article) Butcher, Darci T. \| Cytrynbaum, Cheryl \| Turinsky, Andrei L. \| Siu, Michelle T. \| Inbar-Feigenberg, Michal \| Mendoza-Londono, Roberto \| Chitayat, David \| Walker, Susan \| Machado, Jerry \| Caluseriu, Oana \| ... \| Weksberg, Rosanna The American Journal of Human Genetics, volume 100, issue 5, pages 773-788 (2017). 10.1016/j.ajhg.2017.04.004 Cited by (141) \| Cite \| Source \| Open Access
Buschke-Ollendorff syndrome: a novel case series and systematic review (journal article) Pope, V. \| Dupuis, L. \| Kannu, P. \| Mendoza-Londono, R. \| Sajic, D. \| So, J. \| Yoon, G. \| Lara-Corrales, I. British Journal of Dermatology, volume 174, issue 4, pages 723-729 (2016). 10.1111/bjd.14366 Cited by (36) \| Cite \| Source
MG-109 Revisiting a clinical diagnosis 15 years later with the aid of whole exome sequencing: Osteopetrosis versus harderophorphyria (journal article) Mendoza, Roberto \| Dupuis, Lucie \| Kannu, Peter \| Hartley, Taila \| Bareke, Eric \| Boycott, Kym Journal of Medical Genetics, volume 52, issue Suppl 2, pages A4.1-A4 (2015). 10.1136/jmedgenet-2015-103578.9 Cited by (1) \| Cite \| Source
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations (journal article) Faden, Maha \| AlZahrani, Fatema \| Mendoza-Londono, Roberto \| Dupuis, Lucie \| Hartley, Taila \| Kannu, Peter \| Raiman, Julian A. \| Howard, Andrew \| Qin, Wen \| Tetreault, Martine \| ... \| Alkuraya, Fowzan S. The American Journal of Human Genetics, volume 97, issue 4, pages 608-615 (2015). 10.1016/j.ajhg.2015.08.007 Cited by (13) \| Cite \| Source \| Open Access
15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes (journal article) Noor, Abdul \| Dupuis, Lucie \| Mittal, Kirti \| Lionel, Anath C. \| Marshall, Christian R. \| Scherer, Stephen W. \| Stockley, Tracy \| Vincent, John B. \| Mendoza-Londono, Roberto \| Stavropoulos, Dimitri J. Human Mutation, volume 36, issue 7, pages 689-693 (2015). 10.1002/humu.22800 Cited by (62) \| Cite \| Source
Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC (journal article) Mendoza-Londono, Roberto \| Fahiminiya, Somayyeh \| Majewski, Jacek \| Tétreault, Martine \| Nadaf, Javad \| Kannu, Peter \| Sochett, Etienne \| Howard, Andrew \| Stimec, Jennifer \| Dupuis, Lucie \| ... \| Rauch, Frank The American Journal of Human Genetics, volume 96, issue 6, pages 979-985 (2015). 10.1016/j.ajhg.2015.04.021 Cited by (102) \| Cite \| Source \| Open Access
382. Osteopetrosis: An Unusual Presentation of a Rare Disease as a Candidate for Gene Therapy (journal article) O'Brien, Alan \| Krueger, Joerg \| Dupuis, Lucie \| Voronov, Irina \| Kannu, Peter \| Cohn, Ronald D. \| Mendoza-Londono, Roberto Molecular Therapy, volume 23 (2015). 10.1016/S1525-0016(16)33991-0 Cite \| Source \| Open Access