Susan Walsh, MD
Associate Professor of PediatricsCards
About
Titles
Associate Professor of Pediatrics
Director of Yale Pediatric Advanced Life Support (PALS) Program
Biography
Dr. Susan Walsh is a pediatric Emergency Medicine physician at Yale Chldren’s Hospital since 2007. She has vast experience as the medical director of Pediatric Advanced Life Support Program at Yale since 2002. She has extensive experience using simulation for education programs at Yale New Haven Hospital and in the Greater New Haven area. She has incorporated simulation-based cases in the teaching and testing of Advanced Life Support skills for pediatric providers. She was appointed as Regional Faculty to the American Heart Association and is currently in her second term. Sue is an Assistant Clinical Professor of Pediatrics at Yale University and an attending in the pediatric emergency department since 2007.
Appointments
Pediatric Emergency Medicine
Associate Professor on TermPrimaryEmergency Medicine
Associate Clinical ProfessorSecondary
Other Departments & Organizations
Education & Training
- Fellow
- Yale-New Haven Children's Hospital (2006)
- Intern & Resident
- Yale-New Haven Children's Hospital (2002)
- MD
- New Jersey Medical School (1999)
- BS
- Boston College, Biology (1993)
Research
Publications
2025
Optimized phenotyping of complex morphological traits: enhancing discovery of common and rare genetic variants
Yuan M, Goovaerts S, Lee M, Devine J, Richmond S, Walsh S, Shriver M, Shaffer J, Marazita M, Peeters H, Weinberg S, Claes P. Optimized phenotyping of complex morphological traits: enhancing discovery of common and rare genetic variants. Briefings In Bioinformatics 2025, 26: bbaf090. PMID: 40062617, PMCID: PMC11891655, DOI: 10.1093/bib/bbaf090.Peer-Reviewed Original ResearchConceptsRare variant association studiesGenome-wide association studiesComplex morphological traitsGenomic lociSNP heritabilityAssociation studiesRare variantsPhenotypic variationMorphological traitsAxes of phenotypic variationContext of genome-wide association studiesVariant association studiesIndividuals of European ancestryGene-based testsLinkage disequilibrium score regressionRare genetic variantsGenomic relatednessOptimal phenotypeUnrelated individualsGenetic variantsRelevant traitsEuropean ancestryScore regressionPhenotype distributionFamily data
2024
Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population
Vanneste M, Hoskens H, Goovaerts S, Matthews H, Devine J, Aponte J, Cole J, Shriver M, Marazita M, Weinberg S, Walsh S, Richmond S, Klein O, Spritz R, Peeters H, Hallgrímsson B, Claes P. Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population. Nature Communications 2024, 15: 10458. PMID: 39622794, PMCID: PMC11612227, DOI: 10.1038/s41467-024-54839-1.Peer-Reviewed Original ResearchConceptsMultivariate GWASMendelian phenotypesComplex traitsPolygenic backgroundMendelian disordersPolygenic basisGenetic variationGenetic variantsGenetic intersectionAchondroplasia phenotypePhenotypic spectrumPhenotypeGenesSkeletal developmentShape axesCraniofacial shapeGWASFacial variationsThree-dimensional facial scansGeneral populationTraitsControl scoresVariationControl samplesVariantsMapping genes for human face shape: Exploration of univariate phenotyping strategies
Yuan M, Goovaerts S, Vanneste M, Matthews H, Hoskens H, Richmond S, Klein O, Spritz R, Hallgrimsson B, Walsh S, Shriver M, Shaffer J, Weinberg S, Peeters H, Claes P. Mapping genes for human face shape: Exploration of univariate phenotyping strategies. PLOS Computational Biology 2024, 20: e1012617. PMID: 39621772, PMCID: PMC11661606, DOI: 10.1371/journal.pcbi.1012617.Peer-Reviewed Original ResearchGenome-wide association studiesMultiple genome-wide association studiesPhenotyping strategiesSNP-based heritabilityInter-landmark distancesLD score regressionFacial gestaltMap genesGenetic lociAssociation studiesCraniofacial shapeUnivariate traitsMorphological traitsEuropean ancestryScore regressionLow heritabilityPhenotyping approachFacial resemblanceFacial shapePhenotypeGenetic factorsTraitsHuman face shapeHeritabilityGenetic influencesA novel approach to craniofacial analysis using automated 3D landmarking of the skull
Wilke F, Matthews H, Herrick N, Dopkins N, Claes P, Walsh S. A novel approach to craniofacial analysis using automated 3D landmarking of the skull. Scientific Reports 2024, 14: 12381. PMID: 38811771, PMCID: PMC11137148, DOI: 10.1038/s41598-024-63137-1.Peer-Reviewed Original ResearchConceptsHuman skullCone-beam computed tomographyCentroid sizeCranial anatomyBone variationLandmark setsVault regionCraniofacial analysisSkullMorphological researchBone masksEvolutionary underpinningsIntraclass coefficientQuantification of variationCT imageryBone surfaceLandmarksCraniofacial structuresBone phenotypeLevel of concordanceManually placed landmarksShape analysisAutomatic landmarkingSkull scanIndependent observersA common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis
Mohammed J, Arora N, Matthews H, Hansen K, Bader M, Walsh S, Shaffer J, Weinberg S, Swigut T, Claes P, Selleri L, Wysocka J. A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis. ELife 2024, 13: e82564. PMID: 38483448, PMCID: PMC10939500, DOI: 10.7554/elife.82564.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesSingle nucleotide polymorphismsGenome-wide association study studiesDisease predispositionComplex morphological traitsEmbryonic cell typesSkull elementsCognate enhancersAssociation studiesAssociated with quantitative changesPhenotypic traitsPhenotypic variationMorphological traitsJaw shapeNucleotide polymorphismsGenetic variantsMorphological variationTyrosine kinaseCell typesNormal rangeRisk of non-syndromic orofacial cleftsFacial morphogenesisNon-syndromic orofacial cleftsHuman populationSkeletal development
2023
Data-driven trait heritability-based extraction of human facial phenotypes
Yuan M, Goovaerts S, Hoskens H, Richmond S, Walsh S, Shriver M, Shaffer J, Marazita M, Weinberg S, Peeters H, Claes P. Data-driven trait heritability-based extraction of human facial phenotypes. 2023, 00: 312-319. DOI: 10.1109/bibm58861.2023.10385885.Peer-Reviewed Original ResearchTrait heritabilityGenome-wide association scanAssociation scansSNP heritabilityGenetic lociAssociation studiesGenetic variationModel shape variationsPhenotypic traitsMorphological traitsEffect traitsRelevant phenotypesDimension reduction techniquesPhenotypic measurementsData-driven optimizationPhenotypic descriptorsFeature spaceHuman expertsGenetic search algorithmPhenotypeAutomatic extractionTraitsHuman faceDegree of variationSearch algorithmnetMUG: a novel network-guided multi-view clustering workflow for dissecting genetic and facial heterogeneity
Li Z, Melograna F, Hoskens H, Duroux D, Marazita M, Walsh S, Weinberg S, Shriver M, Müller-Myhsok B, Claes P, Van Steen K. netMUG: a novel network-guided multi-view clustering workflow for dissecting genetic and facial heterogeneity. Frontiers In Genetics 2023, 14: 1286800. PMID: 38125750, PMCID: PMC10731261, DOI: 10.3389/fgene.2023.1286800.Peer-Reviewed Original ResearchMulti-view clustering frameworkHeterogeneous data sourcesSingle-view dataMulti-view dataMultiple Canonical Correlation AnalysisMulti-view clusteringMulti-view featuresClustering frameworkTrue labelsData structureFacial imagesExtraneous dataRand indexBenchmark methodsNetwork representationSynthetic dataSparse multiple canonical correlation analysisData sourcesHierarchical clusteringClusteringCanonical correlation analysisSuperior performanceNetworkGenomic dataReal data analysisJoint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape
Goovaerts S, Hoskens H, Eller R, Herrick N, Musolf A, Justice C, Yuan M, Naqvi S, Lee M, Vandermeulen D, Szabo-Rogers H, Romitti P, Boyadjiev S, Marazita M, Shaffer J, Shriver M, Wysocka J, Walsh S, Weinberg S, Claes P. Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape. Nature Communications 2023, 14: 7436. PMID: 37973980, PMCID: PMC10654897, DOI: 10.1038/s41467-023-43237-8.Peer-Reviewed Original ResearchILIAD: a suite of automated Snakemake workflows for processing genomic data for downstream applications
Herrick N, Walsh S. ILIAD: a suite of automated Snakemake workflows for processing genomic data for downstream applications. BMC Bioinformatics 2023, 24: 424. PMID: 37940870, PMCID: PMC10633908, DOI: 10.1186/s12859-023-05548-x.Peer-Reviewed Original ResearchConceptsRaw genomic dataSoftware toolsHigh-performance computing clusterOwn big dataRaw data typesVariant call format filesOpen-source suiteBioinformatics software toolsDownstream applicationsDocker containersGenomic dataLocal machineComputing clusterBig dataConfiguration filesJob executionWindows platformData workflowIntermediate filesSingle commandFormat fileReproducible workflowsVCF filesData typesStorage limitationsGWAs Identify DNA Variants Influencing Eyebrow Thickness Variation in Europeans and Across Continental Populations
Peng F, Xiong Z, Zhu G, Hysi P, Eller R, Wu S, Adhikari K, Chen Y, Li Y, Gonzalez-José R, Schüler-Faccini L, Bortolini M, Acuña-Alonzo V, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Uitterlinden A, Ikram M, Nijsten T, Ruiz-Linares A, Wang S, Walsh S, Spector T, Martin N, Kayser M, Liu F, Consortium I. GWAs Identify DNA Variants Influencing Eyebrow Thickness Variation in Europeans and Across Continental Populations. Journal Of Investigative Dermatology 2023, 143: 1317-1322.e11. PMID: 37085041, DOI: 10.1016/j.jid.2022.11.026.Peer-Reviewed Original Research
Academic Achievements & Community Involvement
Clinical Care
Overview
Susan A. Walsh, MD, is a pediatric emergency medicine physician and director of the Yale Pediatric Advanced Life Support (PALS) Program. When a young patient arrives in the emergency department, she tells parents, “I promise we will take very good care of your child. Ask all the questions you need to feel comfortable with our care.”
One of Dr. Walsh’s most memorable cases involved a 5-year-old girl brought to the emergency room with a dysrythmia, or irregular heartbeat. “She arrived gray and lifeless. We were able to assess and treat her with a shock that restored her circulation, and she was awake and well within minutes,” Dr. Walsh says.
An associate clinical professor of pediatrics (emergency medicine) and of emergency medicine at Yale School of Medicine, Dr. Walsh is also a leading instructor of simulation training, in which doctors who are in training or already practicing learn and practice emergency and other skills on manikins. She specialized in pediatric emergency medicine because “as a parent and as a physician, I am motivated to help sick and injured children and their families through a crisis.”
Clinical Specialties
Pediatric Emergency Medicine
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Pediatric Emergency Medicine
840 Howard Ave, First Floor
New Haven, CT 06519
United States
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