Nada Quercia
ScholarGPS® ID: 28544068890623
Affiliation History
Field
Life Sciences
Discipline
Genetics
Top Specialties
Birth Defect | Genetic Testing
Metrics Summary
Publication Count
18
Predicted Citations
406
Predicted h-index
10
Ranking
Publications and Citation History
Publications based on Top Specialties
Types of Publication
- Publications
- Books
- Patents
- NIH/NSF
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Variants in Genes Associated with Hearing Loss in Children: Prevalence in a Large Canadian Cohort (journal article) The Laryngoscope (2024). |
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability (journal article) Genetics in Medicine, volume 24, issue 2, pages 430-438 (2022). |
Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein–Taybi syndrome (journal article) European Journal of Endocrinology, volume 181, issue 2, pages 121-128 (2019). |
Risk for Patient Harm in Canadian Genetic Counseling Practice: It's Time to Consider Regulation (journal article) Journal of Genetic Counseling, volume 26, issue 1, pages 93-104 (2017). |
Primary ciliary dyskinesia: mechanisms and management (journal article) The Application of Clinical Genetics, volume Volume 10 (2017). |
Neuromuscular Disorders, volume 20, issue 5, pages 340-342 (2010). |
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit (journal article) Case Reports, volume 2009, issue jan27 1, pages bcr0820080688-bcr0820080688 (2009). |
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit (journal article) Journal of Neurology, Neurosurgery & Psychiatry, volume 79, issue 2, pages 234-236 (2008). |
Acrofacial dysostosis syndrome type Rodriguez: Prenatal diagnosis and autopsy findings (journal article) American Journal of Medical Genetics Part A, volume 143A, issue 24, pages 3286-3289 (2007). |
DNA‐Sequence Patenting: National Society of Genetic Counselors (NSGC) Position Paper (journal article) Journal of Genetic Counseling, volume 11, issue 4, pages 241-243 (2002). |
Detecting rearrangements in children using subtelomeric FISH and SKY (journal article) American Journal of Medical Genetics, volume 107, issue 4, pages 267-274 (2002). |
Craniosynostosis, ectopia lentis, and congenital heart defects: Further delineation of an autosomal dominant syndrome with incomplete penetrance (journal article) American Journal of Medical Genetics, volume 107, issue 1, pages 38-42 (2002). |
Ikirara Insertions Reveal Five New Anopheles gambiae Transposable Elements in Islands of Repetitious Sequence (journal article) Journal of Molecular Evolution, volume 52, issue 3, pages 215-231 (2001). |
Double primary cancers of the breast and thyroid in women: molecular analysis and genetic implications. (journal article) Familial cancer, volume 1, issue 1 (2001). |
Patient perspectives on the process of informed consent for DNA testing (journal article) Genetics in Medicine, volume 2, issue 1, pages 100- (2000). |
Craniosynostosis, ectopia lentis and congenital heart defect: further delineation of an autosomal dominant syndrome with reduced penetrance (journal article) Genetics in Medicine, volume 2, issue 1, pages 85- (2000). |
Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy (journal article) Neurology, volume 50, issue 2, pages 417-422 (1998). |
Normal external genitalia in a female with classical congenital adrenal hyperplasia who was not treated during embryogenesis (journal article) Prenatal Diagnosis, volume 18, issue 1, pages 83-85 (1998). |