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Andrea A. Guerin

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
2016 · Dimitri J Stavropoulos, Daniele Merico, et al. · npj Genomic Medicine · 366
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Use of Maternal GHb Concentration to Estimate the Risk of Congenital Anomalies in the Offspring of Women with Prepregnancy Diabetes
2007 · Andrea Guerin, Rosane Nisenbaum, et al. · Diabetes Care · 216
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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
2020 · Maria J. Guillen Sacoto, Iva A. Tchasovnikarova, et al. · The American Journal of Human Genetics · 107
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Interstitial deletion of 11q‐implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome
2012 · Andrea Guerin, Dimitri J Stavropoulos, et al. · American Journal of Medical Genetics Part A · 55
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
2022 · Marcello Scala, Masashi Nishikawa, et al. · Brain · 54
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Stepwise Developmental Regression Associated With Novel CACNA1A Mutation
2008 · Andrea A. Guerin, Annette Feigenbaum, et al. · Pediatric Neurology · 48
Pain and gastrointestinal dysfunction are significant associations with psychiatric disorders in patients with Ehlers–Danlos syndrome and hypermobility spectrum disorders: a retrospective study
2019 · S. Wasim, J. S. Suddaby, et al. · Rheumatology International · 44
Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression
2014 · Andrea Guerin, Aly S. Aziz, et al. · Journal of Child Neurology · 42
Missense variant contribution to USP9X-female syndrome
2020 · Lachlan A. Jolly, Euan Parnell, et al. · npj Genomic Medicine · 35
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Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature
2020 · Devon L. Johnstone, Thi Tuyet Mai Nguyen, et al. · Journal of Inherited Metabolic Disease · 28
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Mainstreaming of clinical genetic testing: A conceptual framework
2025 · Michael P. Mackley, Julie Richer, et al. · Genetics in Medicine · 23
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
2021 · Annelise Y. Mah-Som, Cristina Skrypnyk, et al. · Neurology Genetics · 15
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HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia
2017 · Sandra A. Farrell, Sandi Sodhi, et al. · American Journal of Medical Genetics Part A · 13
Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism
2019 · Calvin P. Sjaarda, Shalandra Wood, et al. · Journal of Human Genetics · 12
XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome
2013 · Komudi Siriwardena, Almundher Al‐Maawali, et al. · American Journal of Medical Genetics Part A · 12
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration
2021 · Maria Lisa Dentici, Viola Alesi, et al. · Journal of Medical Genetics · 11
Trends in Obesity in Pregnancy
2007 · Joel G. Ray, Rosane Nisenbaum, et al. · Epidemiology · 11
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability
2024 · Pascale Sabeh, Samantha A. Dumas, et al. · The American Journal of Human Genetics · 10
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
2022 · Taila Hartley, Élisabeth Soubry, et al. · Clinical Genetics · 10
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
2023 · Taila Hartley, Deborah Marshall, et al. · Genetics in Medicine · 9
Ensuring timely genetic diagnosis in adults
2023 · Hanna Faghfoury, Andrea Guerin · Canadian Medical Association Journal · 9
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A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis
2023 · Doriana Misceo, Lisa Lirussi, et al. · Brain · 9
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Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld‐anomaly in a child with PTPN11 mutation
2014 · Andrea Guerin, Joyce So, et al. · American Journal of Medical Genetics Part A · 9
Noncompaction cardiomyopathy in an infant with Walker–Warburg syndrome
2017 · Sarah Abdullah, Cynthia Hawkins, et al. · American Journal of Medical Genetics Part A · 8
Liver transplantation for Gaucher disease presenting as neonatal cholestasis: Case report and literature review
2020 · Lucy Soudek, Iram Siddiqui, et al. · Pediatric Transplantation · 7
Works count: 60
Citation count: 1,213
H-index: 13
I10-index: 19
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