Patrick Shannon

Mount Sinai Hospital — Canada

Medicine · Health Sciences

47h-index7.6kcitations213works1.72yr avg
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Research Topics

Sperm and Testicular Function(31), Fetal and Pediatric Neurological Disorders(23), Reproductive Biology and Fertility(21), Prenatal Screening and Diagnostics(20), Genetic and phenotypic traits in livestock(11)

Publications212 total

Fetal and Neonatal Brain Tumors
Neuroimaging Clinics of North America·2025
Primordial Germ Cells in the Human Fetal Brain: Origins of Intracranial Germ Cell Tumours
Pediatric and Developmental Pathology·2025
The Fetal Taenia–Tela Choroidea Complex: A Radiologic–Pathologic Correlation from Normal Anatomy to Dandy-Walker Malformation
2025Open Access
WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models
Developmental Biology·2025Open Access
Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in <scp>BORCS5</scp>
American Journal of Medical Genetics Part A·2025Open Access
<i>KIDINS220</i> Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis
Prenatal Diagnosis·2025Open Access
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
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
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease
European Journal of Human Genetics·2024· 14 citedOpen Access
Prenatal diagnosis of <i>ROR‐2</i> related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities
Prenatal Diagnosis·2024Open Access
Expanding the phenotypic spectrum of NOTCH1 variants: Clinical manifestations in families with congenital heart disease
2024· 1 citedOpen Access
P788: The ADGRA2 gene is associated with multiple fetal brain anomalies in humans
Genetics in Medicine Open·2024· 1 citedOpen Access
P812: Multiple fetal anomalies suggest a role for CDK20 in human ciliopathies
Genetics in Medicine Open·2024Open Access
Fetal macrocephaly: Pathophysiology, prenatal diagnosis and management
Prenatal Diagnosis·2023· 12 citedOpen Access
Pathological Findings in Fetuses Terminated for Suspected Lower Urinary Tract Obstruction: Experience From a High-Risk Fetal Center in Canada
The Journal of Urology·2023· 4 cited
Skeletal Growth Arrest Lines in Fetal Remains: Histopathology and Correlative Placental Pathology
Pediatric and Developmental Pathology·2023· 1 cited
WHAT RECOURSE DO PATIENTS HAVE WHEN THEY ARE DENIED INSURANCE COVERAGE FOR FERTILITY CARE? AN ANALYSIS OF THE DEPARTMENT OF MANAGED HEALTHCARE INDEPENDENT MEDICAL REVIEW DATABASE BETWEEN 2001-2023
Fertility and Sterility·2023Open Access
Lung Hypoplasia in Fetuses with Skeletal Dysplasia Determined by Fetal Lung Weight: Which Ultrasound Measurement/Ratio Has the Highest Detection Rate
Fetal Diagnosis and Therapy·2023· 1 cited
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Frequent Co-authors

David Chitayat(8), Abhijit Guha(7), David H. Gutmann(5), Luba Roncari(4), Nelson C. Lau(4), Susan Blasér(4), R. Vishwanath(3), Xiaoli Wu(3), Gregory P. Downey(3), Elysa Widjaja(3), Sarah Keating(3), András Nagy(2), Nicola L. Jones(2), Philip M. Sherman(2), Hedy Ginzberg(2), B. Curson(2), Anandh Balasubramaniam(2), N. Sabha(2), Susan Blaser(2), Elka Miller(2)