Faculty profile

Patrick Shannon

Back to faculty

Associate ProfessorDepartment of Laboratory Medicine & PathobiologyUniversity of Toronto

Patrick Shannon

Associate Professor

Department of Laboratory Medicine & Pathobiology

Temerty Faculty of Medicine

University of Toronto

Toronto, Ontario, Canada

Supervision signals

Professors usually supervise graduate students in their department's programs.
22 publications in the last five years, latest in 2026.
Senior (last) author on 1 recent paper, a sign of leading a research group.

These signals come from public records, including federal and provincial funding decisions. Ask the professor or the graduate program whether they are taking new students.

Academic metrics

Publications

1,015

Citations

Collaborators

Publications by year

Counts cover the publications linked to this profile. Citations and the h-index appear when the source records them.

Profiles and links

University Profile

Search on Google Scholar

Search on ResearchGate

iDORCID OpenAlex

Find them onX · LinkedIn · Bluesky · YouTube

Signals and details

Research

Read how they describe their research on their University of Toronto profile.

Latest papers

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.
American journal of human genetics · 2026
WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models.
Developmental biology · 2026
Diagnostic yield and imaging: aetiology correlations in prenatal intracranial haemorrhage-a retrospective cohort study.
Archives of disease in childhood. Fetal and neonatal edition · 2026

All 60 publications

60 publications.

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

Lemire G, Marshall AE, Patel TS, Trejo Martinez J, Lerman-Sagie T, Mears W, Wang X, Lev D, Eaton AJ, Bontempo K, Angle B, Shannon P, Blaser S, Care4Rare Canada Consortium, Boycott KM, Richer J, Chong K, Drivas TG, Chitayat D

American journal of human genetics2026Open Access

DOI: 10.1016/j.ajhg.2026.06.009 PMID: 42409022

WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models.

Hernández-García A, Kim BJ, Chitayat D, Shannon P, Hedges S, Al Bandari M, Guillen Sacoto MJ, Bates EA, Ozekin YH, Faundes V, Luna PN, Shaw CA, Rasmussen TL, Hsu CW, Scott DA

Developmental biology2026

DOI: 10.1016/j.ydbio.2025.09.016 PMID: 40992710

Diagnostic yield and imaging: aetiology correlations in prenatal intracranial haemorrhage-a retrospective cohort study.

Shinar S, Carmant LS, Tripathy P, Wade N, Shannon P, Chong K, Chitayat D, Miller E

Archives of disease in childhood. Fetal and neonatal edition2026

DOI: 10.1136/archdischild-2025-330148 PMID: 41980807

Periventricular Nodular Heterotopia, Cerebellar Hypodysgenesis, and Mesial Temporal Malformation Detected on Fetal MRI: An Underrecognized Association.

Pai V, Shinar S, Krishnan P, Shannon P, Chitayat D, Fisher Y, Blaser S, Miller E

AJNR. American journal of neuroradiology2026

DOI: 10.3174/ajnr.a9173 PMID: 41565358

Fetal and Neonatal Brain Tumors: An Imaging Review.

Pai V, Gupta N, Miller E, Krishnan P, Shinar S, Shannon P, Blaser S, Laughlin S

Neuroimaging clinics of North America2026

DOI: 10.1016/j.nic.2025.09.005 PMID: 41274763

The fetal taenia-tela choroidea complex: a radiologic-pathologic correlation from normal anatomy to Dandy-Walker malformation.

Rutten C, Fisher Y, Shannon P, Pai V, Krishnan P, Shinar S, Miller E

Pediatric radiology2026

DOI: 10.1007/s00247-026-06592-4 PMID: 41874629

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

Mencacci NE, Minakaki G, Maroofian R, De Pace R, Paimboeuf A, Shannon P, Chitayat D, Magrinelli F, Peng WJ, Chatterjee D, Eldessouky SH, Baptista J, Marton T, Vogt J, Ortigoza-Escobar JD, Martorell L, Gómez-Chiari M, Wentzensen IM, Kamsteeg EJ, Zaki MS, Scardamaglia A, Zifarelli G, Al-Hassnan ZN, Miller E, Shinar S, Matsa LS, Appikonda SHC, Schwake M, Severino M, Houlden H, Patten SA, Bonifacino JS, Bhatia KP, Krainc D

medRxiv : the preprint server for health sciences20253 citationsOpen Access

DOI: 10.1101/2025.04.30.25326597 PMID: 40385417

Periventricular echogenicity in fetuses with hemoglobin Bart disease: a potential sonographic marker.

Sichitiu J, Vlachodimitropoulou E, Shannon P, Verweij J, Shinar S, Ryan G, Blaser S, Krishnan P, Van Mieghem T

American journal of obstetrics & gynecology MFM20251 citations

DOI: 10.1016/j.ajogmf.2025.101621 PMID: 39900244

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5.

Fisher Y, Greenberg O, Shannon P, Staines A, McGivern B, Napier MP, Chitayat D

American journal of medical genetics. Part A2025

DOI: 10.1002/ajmg.a.64164 PMID: 40621786

KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis.

Ghannad-Zadeh K, Shannon P, Jobling R, Miller E, Chong K, Mathews E, Chitayat D, Shinar S

Prenatal diagnosis2025

DOI: 10.1002/pd.6804 PMID: 40317787

Profile data last refreshed on September 29, 2026 from the university directory, publication records and public research funding records.

Something wrong or missing on this profile? Suggest a correction

Patrick Shannon

Research

Latest papers

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models.

Diagnostic yield and imaging: aetiology correlations in prenatal intracranial haemorrhage-a retrospective cohort study.

Periventricular Nodular Heterotopia, Cerebellar Hypodysgenesis, and Mesial Temporal Malformation Detected on Fetal MRI: An Underrecognized Association.

Fetal and Neonatal Brain Tumors: An Imaging Review.

The fetal taenia-tela choroidea complex: a radiologic-pathologic correlation from normal anatomy to Dandy-Walker malformation.

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

Periventricular echogenicity in fetuses with hemoglobin Bart disease: a potential sonographic marker.

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5.

KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis.

Frequent collaborators

David Chitayat

Shiri Shinar

Elka Miller

Tim Van Mieghem

Ebba Alkhunaizi

Pradeep Krishnan

Ants Toi

Vivek Pai

Greg Ryan

Gelareh Zadeh

Abdul Noor

Phedias Diamandis

Keyvan Koushan

John Kingdom

Kirsten Niles

Colin McCartney

Katherine Fong

Nimrah Abbasi

Phyllis Glanc

Joel Rubenstein

Caroline Rutten

Suzanne Laughlin

Daniel Mandell

Johannes Keunen

Yada Kunpalin

Shun Wong

Rosanna Weksberg

John Dick

Anne-Marie Laberge

James Drake

Hilary Whyte

Mojgan Hodaie

Christopher Pearson

Katherine Siminovitch

Heyu Ni

Philip Marsden

Leonardo Salmena

Johann Hitzler

Daniel de Carvalho

Vibhuti Shah