Susan Blaser

University of Toronto — Canada

Medicine · Health Sciences

27h-index2.0kcitations68works2.72yr avg
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Research Topics

Fetal and Pediatric Neurological Disorders(26), Spinal Dysraphism and Malformations(15), Cerebrospinal fluid and hydrocephalus(11), Prenatal Screening and Diagnostics(10), Neonatal and fetal brain pathology(8)

Publications68 total

Fetal and Neonatal Brain Tumors
Neuroimaging Clinics of North America·2025
Brain Abnormalities in Prenatally Diagnosed Rubinstein‐Taybi Syndrome
Prenatal Diagnosis·2025· 1 citedOpen Access
Periventricular echogenicity in fetuses with hemoglobin Bart disease: a potential sonographic marker
American Journal of Obstetrics & Gynecology MFM·2025
Child Neurology: Severe <i>GMPPB</i> -Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death
Neurology·2025· 1 citedOpen Access
Mesencephalosynapsis and aqueductal stenosis
Journal of Neuropathology & Experimental Neurology·2024· 4 citedOpen Access
Associations and outcomes of prenatally detected rhombencephalosynapsis
Prenatal Diagnosis·2024· 4 citedOpen Access
Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility
Nature Communications·2024· 9 citedOpen Access
Variants in <i>CLDN5</i> cause a syndrome characterized by seizures, microcephaly and brain calcifications
Brain·2022· 28 citedOpen Access
Corrigendum to: <i>YIF1B</i> mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations
Brain·2021Open Access
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations
Brain·2020· 16 citedOpen Access
A single KH domain in Bicaudal-C links mRNA binding and translational repression functions to maternal development
Development·2019· 15 citedOpen Access
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
Genetics in Medicine·2018· 41 citedOpen Access
<i>COL4A1</i> and fetal vascular origins of schizencephaly
Neurology·2017· 19 citedOpen Access
De novo pathogenic variant in <i>TUBB2A</i> presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay
American Journal of Medical Genetics Part A·2017· 21 cited
RETINAL DETACHMENT AND RETROBULBAR CYSTS IN A LARGE COHORT OF OPTIC NERVE COLOBOMA
Retina·2017· 12 cited
Midline posterior glossectomy and lingual tonsillectomy in obese and nonobese children with down syndrome: Biomarkers for success
The Laryngoscope·2016· 60 cited
A gradient of maternal Bicaudal-C controls vertebrate embryogenesis via translational repression of mRNAs encoding cell fate regulators
Development·2016· 21 citedOpen Access
Autopsy findings in pontine tegmental cap dysplasia
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques·2015· 1 citedOpen Access
Postshunt lateral ventricular volume, white matter integrity, and intellectual outcomes in spina bifida and hydrocephalus
Journal of Neurosurgery Pediatrics·2015· 27 cited
Fetal syringomyelia
Acta Neuropathologica Communications·2014· 10 citedOpen Access
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Frequent Co-authors

Maureen Dennis(16), Jack Μ. Fletcher(13), David Chitayat(12), Larry A. Kramer(11), Michael E. Brandt(8), James M. Drake(7), Ants Toi(7), Kim Copeland(6), Patrick Shannon(6), Ross Hetherington(6), Jon Frederick(5), David J. Francis(5), Elka Miller(5), Kim Edelstein(5), H. Julia Hannay(4), Elysa Widjaja(4), Paul T. Cirino(3), Sarah Keating(3), Rosanna Weksberg(3), Stephen W. Scherer(3)