N. Quercia

Most-cited papers

1. Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

   D. Stavropoulos, D. Merico, R. Jobling, S. Bowdin +59 more

   2016npj Genomic Medicine314 citations Open access

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2. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

   A. van Dijck, A. T. Vulto-van Silfhout, E. Cappuyns, I. M. van der Werf +99 more

   2018Biological Psychiatry150 citations Open access

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3. Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy

   C. Macmillan, T. Kirkham, K. Fu, V. Allison +8 more

   1998Neurology108 citations

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4. Detecting rearrangements in children using subtelomeric FISH and SKY.

   Blaise Clarkson, K. Pavenski, L. Dupuis, S. Kennedy +8 more

   2002American journal of medical genetics65 citations

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5. Primary ciliary dyskinesia: mechanisms and management

   N. Damseh, N. Quercia, Nisreen Rumman, S. Dell +1 more

   2017The Application of Clinical Genetics64 citations Open access

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6. Ikirara Insertions Reveal Five New Anopheles gambiae Transposable Elements in Islands of Repetitious Sequence

   S. Hill, S. Leung, N. Quercia, D. Vasiliauskas +5 more

   2001Journal of Molecular Evolution20 citations

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7. Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling.

   N. Quercia, G. Somers, W. Halliday, P. Kantor +2 more

   2010Neuromuscular Disorders18 citations

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8. Double primary cancers of the breast and thyroid in women: molecular analysis and genetic implications

   T. Pal, N. Hamel, D. Vesprini, K. Sanders +6 more

   2004Familial Cancer16 citations

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9. Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome.

   A. Ganesh, Charles R. Smith, Wilson Chan, S. Unger +5 more

   2006A M A Archives of Ophthalmology13 citations Open access

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10. Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome.

    A. Welters, Ranna El-Khairi, A. Dastamani, N. Bachmann +9 more

    2019European Journal of Endocrinology12 citations Open access

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11. Risk for Patient Harm in Canadian Genetic Counseling Practice: It’s Time to Consider Regulation

    A. Shugar, N. Quercia, Christopher D Trevors, M. Rabideau +1 more

    2017Journal of Genetic Counseling12 citations Open access

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12. Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit

    Grace Yoon, R. Westmacott, L. Macmillan, N. Quercia +4 more

    2008Journal of Neurology Neurosurgery & Psychiatry12 citations

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13. Acrofacial dysostosis syndrome type Rodriguez: Prenatal diagnosis and autopsy findings

    David Sermer, N. Quercia, K. Chong, D. Chitayat

    2007American Journal of Medical Genetics. Part A10 citations

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14. Normal external genitalia in a female with classical congenital adrenal hyperplasia who was not treated during embryogenesis

    N. Quercia, D. Chitayat, R. Babul-Hirji, Maria I. New +1 more

    1998Prenatal Diagnosis8 citations

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15. VLEEM 2(Very Long Term Energy-Environment Model)

    B. Chateau, M. Biberacher, U. Birnbaum, T. Hamacher +6 more

    20055 citations

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16. Assessing the Performance of the Clinician-Reported Genetic Testing Utility InDEx (C-GUIDE): Further Evidence of Inter-Rater Reliability.

    R. Hayeems, Stephanie Luca, L. Chad, N. Quercia +5 more

    2023Clinical Therapeutics4 citations

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17. Craniosynostosis, ectopia lentis, and congenital heart defects: further delineation of an autosomal dominant syndrome with incomplete penetrance.

    N. Quercia, A. Teebi

    2002American journal of medical genetics4 citations

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18. Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit

    G. Yoon, R. Westmacott, L. Macmillan, N. Quercia +4 more

    2025BMJ Case Reports2 citations Open access

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19. DNA-Sequence Patenting: National Society of Genetic Counselors (NSGC) Position Paper

    Nathalie McIntosh, B. Braddock, Kelly J. Branda, K. Eanet +8 more

    2002Journal of Genetic Counseling2 citations Open access

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20. Peer Review #4 of "HAHap: a read-based haplotyping method using hierarchical assembly (v0.2)"

    Yu-Yu Lin, Ping-Chun Wu, Pei-Lung Chen, Y. Oyang +415 more

    20180 citations Open access

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