Research
Read how they describe their research on their Queen's University profile.
Latest papers
Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study
BMJ Open · 2026
Early Detection and Therapy of Asymptomatic Group 1 Pulmonary Hypertension Following Genetic Testing: A Case Involving Familial KCNK3 Variants.
CJC open · 2026
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
Genetics in Medicine · 2024
8 publications.
Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study
Assamad D, Hansen A, Fooks K, Luca S, Venkataramanan V, Hsue E, Shickh S, Yan J, Wu V, Badalato L
Early Detection and Therapy of Asymptomatic Group 1 Pulmonary Hypertension Following Genetic Testing: A Case Involving Familial KCNK3 Variants.
Rodighiero J, Durbin J, Badalato L, Archer SL
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
Hartley T, Marshall D, Acker M, Fooks K, Gillespie MK, Price EM, Graham ID, White-Brown A, MacKay L, Macdonald SK
Adults with paternal UPD14 causing Kagami–Ogata syndrome: Case report and review of the literature
Christopher Smith, Madison Riddell, Lauren Badalato, Ping Yee Billie Au
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.
Favier M, Brischoux-Boucher E, Pyle LC, Mottet N, Auber-Lenoir M, Cattin J, Dahlen E, Cabrol C, Arbez-Gindre F, Attié-Bitach T, Boute O, Devisme L, Trost D, Boughalem A, Chitayat D, Prasov L, Chorin O, Rein-Rothschild A, Kassif E, Weissbach T, Hendon LG, Adam MP, Quelin C, Jaillard S, Mary L, Aukema SM, Heijligers M, de Die-Smulders C, Stegmann S, Badalato L, Ben-Yehuda A, Beneteau C, Forey PL, Kuentz P, Piard J
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
Hartley T, Soubry É, Acker M, Osmond M, Couse M, Gillespie MK, Ito Y, Marshall AE, Lemire G, Huang L
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.
Banka S, Bennington A, Baker MJ, Rijckmans E, Clemente GD, Ansor NM, Sito H, Prasad P, Anyane-Yeboa K, Badalato L, Dimitrov B, Fitzpatrick D, Hurst ACE, Jansen AC, Kelly MA, Krantz I, Rieubland C, Ross M, Rudy NL, Sanz J, Stouffs K, Xu ZL, Malliri A, Kazanietz MG, Millard TH
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D, SYNAPS Study Group, Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H
Frequent collaborators
- Gregory Costain and Greg Costain: 186 shared papers
- Kym Boycott and Taila Hartley: 87 shared papers
- Gregory Costain and Christian Marshall: 62 shared papers
- Christian Marshall and Greg Costain: 60 shared papers
- James Dowling and Hernan Gonorazky: 53 shared papers
- Robin Hayeems and Christian Marshall: 36 shared papers
- Kym Boycott and Jodi Warman Chardon: 33 shared papers
- Robin Hayeems and Beth Potter: 33 shared papers
- Robin Hayeems and Gregory Costain: 31 shared papers
- Robin Hayeems and Greg Costain: 31 shared papers
- Kym Boycott and Robin Hayeems: 30 shared papers
- Robin Hayeems and Lauren Chad: 30 shared papers
- Mark Tarnopolsky and Kym Boycott: 26 shared papers
- Ronald Cohn and Christian Marshall: 26 shared papers
- Ian Graham and Beth Potter: 24 shared papers
- Ronald Cohn and Gregory Costain: 21 shared papers
- Ronald Cohn and Greg Costain: 21 shared papers
- Kym Boycott and Deborah Marshall: 19 shared papers
- Robin Hayeems and Taila Hartley: 16 shared papers
- Lauren Chad and Gregory Costain: 16 shared papers
- James Dowling and Ronald Cohn: 15 shared papers
- Lauren Chad and Greg Costain: 15 shared papers
- Christian Marshall and Roberto Mendoza-Londono: 15 shared papers
- Deborah Marshall and Taila Hartley: 14 shared papers
- Jodi Warman Chardon and Taila Hartley: 14 shared papers
- Deborah Marshall and Robin Hayeems: 13 shared papers
- James Dowling and Gregory Costain: 13 shared papers
- Gregory Costain and Roberto Mendoza-Londono: 13 shared papers
- Greg Costain and Roberto Mendoza-Londono: 13 shared papers
- Jagdeep Walia and Beth Potter: 12 shared papers
- Mark Tarnopolsky and Chumei Li: 10 shared papers
- Mark Tarnopolsky and James Dowling: 10 shared papers
- Mark Tarnopolsky and Hernan Gonorazky: 10 shared papers
- Peter Kannu and Roberto Mendoza-Londono: 10 shared papers
- David Chitayat and Christian Marshall: 9 shared papers
- David Chitayat and Roberto Mendoza-Londono: 9 shared papers
- Ronald Cohn and Hernan Gonorazky: 9 shared papers
- David Chitayat and Robin Hayeems: 8 shared papers
- Ian Graham and Robin Hayeems: 8 shared papers
- Robin Hayeems and Jagdeep Walia: 7 shared papers
- Gregory Costain and Peter Kannu: 7 shared papers
- Peter Kannu and Greg Costain: 7 shared papers
- James Dowling and Jodi Warman Chardon: 6 shared papers
- Chumei Li and Gregory Costain: 5 shared papers
- Chumei Li and Greg Costain: 5 shared papers
- Ian Graham and Jagdeep Walia: 5 shared papers
- Ashish Marwaha and Peter Kannu: 5 shared papers
- Ashish Marwaha and Roberto Mendoza-Londono: 5 shared papers
- Taila Hartley and Andrea Guerin: 5 shared papers
- Vanda McNiven and Kym Boycott: 4 shared papers
- Vanda McNiven and Roberto Mendoza-Londono: 4 shared papers
- Kym Boycott and Andrea Guerin: 4 shared papers
- Lauren Chad and Ashish Marwaha: 4 shared papers
- Lauren Chad and Anita Villani: 4 shared papers
- Gregory Costain and Andrea Guerin: 4 shared papers
- Mark Tarnopolsky and Lauren Badalato: 3 shared papers
- Vanda McNiven and James Dowling: 3 shared papers
- Robin Hayeems and Lauren Badalato: 3 shared papers
- Robin Hayeems and Anita Villani: 3 shared papers
- Lauren Chad and Lauren Badalato: 3 shared papers
- Mark Tarnopolsky and Anita Villani: 2 shared papers
- Vanda McNiven and Lauren Badalato: 2 shared papers
- Kym Boycott and Lauren Badalato: 2 shared papers
- James Dowling and Lauren Badalato: 2 shared papers
- Ian Graham and Lauren Badalato: 2 shared papers
- Ronald Cohn and Lauren Badalato: 2 shared papers
- Jodi Warman Chardon and Lauren Badalato: 2 shared papers
- Gregory Costain and Lauren Badalato: 2 shared papers
- Jagdeep Walia and Lauren Badalato: 2 shared papers
- Taila Hartley and Lauren Badalato: 2 shared papers
- Beth Potter and Lauren Badalato: 2 shared papers
- Peter Kannu and Lauren Badalato: 2 shared papers
- Andrea Guerin and Lauren Badalato: 2 shared papers
- Lauren Badalato and Greg Costain: 2 shared papers
- Lauren Badalato and Hernan Gonorazky: 2 shared papers
- Lauren Badalato and Roberto Mendoza-Londono: 2 shared papers
- Chumei Li and Lauren Badalato: 1 shared paper
- Deborah Marshall and Lauren Badalato: 1 shared paper
- David Chitayat and Lauren Badalato: 1 shared paper
- Ashish Marwaha and Lauren Badalato: 1 shared paper
- Lauren Badalato and Christian Marshall: 1 shared paper
- Lauren Badalato and Anita Villani: 1 shared paper
- Department of Paediatrics
- Department of Pediatrics
- Department of Molecular Genetics
- Pediatrics
- Pathology
- School of Epidemiology and Public Health
- Institute of Health Policy, Management, and Evaluation
- Other
Co-authors at Queen's University, colored by department. Thicker lines mean more shared papers; select anyone to open their profile and their own map.
Mark Tarnopolsky
Department of Pediatrics
3 shared papers, latest 2026
Lauren Chad
Department of Paediatrics
3 shared papers, latest 2026
Robin Hayeems
Institute of Health Policy, Management, and Evaluation
3 shared papers, latest 2026
Roberto Mendoza-Londono
Department of Paediatrics
2 shared papers, latest 2024
Greg Costain
Department of Paediatrics
2 shared papers, latest 2024
Hernan Gonorazky
Department of Paediatrics
2 shared papers, latest 2024
Kym Boycott
Pediatrics
2 shared papers, latest 2024
Andrea Guerin
Pathology
2 shared papers, latest 2024
Vanda McNiven
Department of Pediatrics
2 shared papers, latest 2024
David Dyment
Faculty
2 shared papers, latest 2024
James Dowling
Department of Molecular Genetics
2 shared papers, latest 2024
Ian Graham
School of Epidemiology and Public Health
2 shared papers, latest 2024
Ronald Cohn
Department of Molecular Genetics
2 shared papers, latest 2024
Gail Graham
Faculty
2 shared papers, latest 2024
Jodi Warman Chardon
Department of Medicine
2 shared papers, latest 2024
Gregory Costain
Department of Molecular Genetics
2 shared papers, latest 2024
Jagdeep Walia
Pathology
2 shared papers, latest 2023
Taila Hartley
Faculty
2 shared papers, latest 2024
Beth Potter
School of Epidemiology and Public Health
2 shared papers, latest 2024
Peter Kannu
Medical Genetics Dept
2 shared papers, latest 2024
Grace Yoon
Department of Paediatrics
1 shared papers, latest 2024
Michal Inbar-Feigenberg
Department of Paediatrics
1 shared papers, latest 2024
Anita Villani
Department of Paediatrics
1 shared papers, latest 2026
Ted Young
Department of Laboratory Medicine & Pathobiology
1 shared papers, latest 2023
Christian Marshall
Department of Laboratory Medicine & Pathobiology
1 shared papers, latest 2023
Virginie Beausejour-Ladouceur
Department of Paediatrics
1 shared papers, latest 2026
Olga Jarinova
Pathology and Laboratory Medicine
1 shared papers, latest 2026
Nomazulu Dlamini
Institute of Medical Science
1 shared papers, latest 2023
Rita Horvath
Faculty
1 shared papers, latest 2020
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Profile data last refreshed on September 29, 2026 from the university directory, publication records and public research funding records.