Faculty

Institution

Unit

Venue

Carol Macmillan

Associate Professor of Pediatrics

University of Chicago

Affiliations

Pediatrics, Department of

Physical Sciences Division

Carol Macmillan is currently serving as a Pediatrics, Department Of Associate Professor of Pediatrics at University of Chicago.

Honors

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Experiences

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Education

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Carol Macmillan

University of Chicago

Associate Professor of Pediatrics

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genetics pediatrics neurology neuroscience human genetics child neurology medical genetics neurogenetics autism molecular genetics population genetics genomics neurodevelopmental disorders developmental genetics hiv developmental neurobiology heredity genetic disorders genome biology child psychology mutagenesis genetic factors cancer genetics neuropsychiatry genotype-phenotype association genetic predisposition allelic variant emerging infectious diseases mendelian inheritance evolutionary genetics brain stimulation applied genetics psychiatric genetics clinical psychiatry treatment options child health child psychiatry preventive pediatrics child mental health pediatric hydrocephalus developmental disorders global developmental delay leigh syndrome eye movements first-degree relatives neurobehavioral abnormalities neurologic evaluation mitochondrial dna depletion pediatric population founder effect french-canadian families french canadians fille du roy developmental hemiparesis lateral hypothalamus ventrolateral tegmentum heterozygous variants symptomatic overgrowth

Video Presentations

Notable Scholarly Works

Notable Federal Grants

Collaborators

Heterozygous Variants in Zbtb7A Cause a Neurodevelopmental Disorder Associated With Symptomatic Overgrowth of Pharyngeal Lymphoid Tissue, Macrocephaly, and Elevated Fetal Hemoglobin. American Journal of Medical Genetics Part A (2021)

Charlotte von der LippeKristian TvetenTrine E. PrescottØystein L. HollaØyvind L. BuskKatherine B. BurkeFrancis H. SansburyJúlia BaptistaAndrew E. FryDerek LimStephen JollesJennifer EvansDeborah OsioCarol MacmillanIrene BrunoFlavio FaletraSalvador ClimentRoser UrreitziJanet HoenickaFrancesc PalauAna S. A. CohenKendra EnglemanDihong ZhouShivarajan M. AmudhavalliMédéric JeanneFrédérique Bonnet‐BrilhaultJonathan LévySéverine DrunatNicolas DeriveMarte G. HaugWenche M. Thorstensen

geneticspharyngeal lymphoid tissuedevelopmental neurobiologysymptomatic overgrowthneurodevelopmental disordersneuroscienceheterozygous variantsfetal hemoglobin

Bi-Allelic Jam2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification. The American Journal of Human Genetics (2020)

Lucia V. SchottlaenderRosella AbetiZane JaunmuktaneCarol MacmillanViorica ChelbanBenjamin O’CallaghanJohn McKinleyReza MaroofianStephanie EfthymiouAlkyoni Athanasiou-FragkouliRaeburn ForbesMarc P.M. SoutarJohn H. LivingstonBernardett KalmarOrlando SwayneGary HottonAlan PittmanJoão Ricardo Mendes de OliveiraMaria de GrandisAngela Richard-LoendtFrancesca LaunchburyJuri AlthonayanGavin McDonnellAisling CarrSuliman KhanChristian BeetzAtil BisginSevcan Tug BozdoganAmber BegtrupErin TortiLinda GreensmithPaola GiuntiPatrick J. MorrisonSebastian BrandnerMichel Aurrand-LionsHenry HouldenStanislav GroppaBlagovesta Marinova KarashovaWolfgang NachbauerSylvia BoeschLarissa ArningDagmar TimmannBru CormandBelen Pérez-DueñasGabriella Di RosaJatinder S. GorayaTipu SultanJun MineDaniela AvdjievaHadil KathomRadka TinchevaSelina BanuMercedes Pineda-MarfaPierangelo VeggiottiMichel D. FerrariAlberto VerrottiGiangluigi MarsegliaSalvatore SavastaMayte García-SilvaAlfons Macaya RuizBarbara GaravagliaEugenia BorgioneSimona PortaroBenigno Monteagudo SanchezRichard BolesSavvas PapacostasMichail VikelisEleni Zamba PapanicolaouEfthymios DardiotisShazia MaqboolShahnaz IbrahimSalman KirmaniNuzhat Noureen RanaOsama AtawnehGeorge KoutsisMarianthi BrezaSalvatore ManganoCarmela ScuderiEugenia BorgioneGiovanna MorelloTanya StojkovicMassimi ZolloGali HeimerYves A. DauvilliersPasquale StrianoIssam Al-KhawajaFuad Al-MutairiHamed Sherifa

neurologyneurogeneticsgenetic predispositiongeneticsdevelopmental geneticsallelic variantepigeneticsmolecular geneticsdevelopmental biologymedical geneticshuman geneticspopulation geneticsgenotype-phenotype association

Clinical and Neurocognitive Issues Associated With Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome: A Case Study. American Journal of Medical Genetics Part A (2019)

Erin K. BojanekMatthew W. MosconiStephen GuterCatalina BetancurCarol MacmillanEdwin H. Cook

neurologyneurogeneticsgeneticsmedical geneticsneuroscience

De Novo Unbalanced Translocation (4P Duplication/8P Deletion) in a Patient With Autism, Ocd, and Overgrowth Syndrome. American Journal of Medical Genetics Part A (2017)

Angela SagarDalila PintoFedra NajjarStephen J. GuterCarol MacmillanEdwin H. Cook

genomicsgenome biologygenetic engineeringunbalanced translocationgeneticsdevelopmental geneticsmolecular biologymolecular geneticsneurodevelopmental disorderspsychiatric geneticsapplied geneticsmedical geneticspediatricshuman geneticsgenetic disordersautism

General Health Concerns for Children With Epilepsy. Journal of Pediatric Epilepsy (2015)

Carol Macmillan

public healthpediatric hydrocephaluspreventive pediatricschild developmentgeneral health concernschild mental healthadolescent healthchild psychologychild neurologychild healthpediatricschild psychiatryhealth sciencesepilepsy

Rare Inherited A2Bp1 Deletion in a Proband With Autism and Developmental Hemiparesis. American Journal of Medical Genetics Part A (2012)

L.K. DavisN. MaltmanM.W. MosconiC. MacmillanL. SchmittK. MooreS.M. FrancisS. JacobJ.A. SweeneyE.H. Cook

genomicsdevelopmental hemiparesisgeneticsautismmedical geneticshuman geneticspopulation genetics

Neurobehavioral Abnormalities in First-Degree Relatives of Individuals With Autism. Archives of General Psychiatry (2010)

Matthew W. MosconiMargaret KayAnna-Maria D’CruzStephen GuterKush KapurCarol MacmillanLisa D. StanfordJohn A. Sweeney

first-degree relativesbehavioral neurosciencepsychiatryneurobehavioral abnormalitiesneuropsychiatryneuroscienceautism

Video Review: Geri Fox Normal Development in Middle Childhood and Adolescence: A Longitudinal Stimulus Video Observation. 1St Ed. Van Nuys, Ca: Child Development Media, Inc. 2010. $395.00. Journal of Child Neurology (2010)

Carol Macmillan

development mediachild developmentmiddle childhoodchild neurologyneuroscience

Balancing Risks: Dosing Strategies for Antidepressants Near the End of Pregnancy. The Journal of Clinical Psychiatry (2008)

Laura J MillerJeffrey R BishopJames H FischerStacie E GellerCarol Macmillan

mental healthpsychiatryclinical psychiatrydosing strategiestreatment options

Moyamoya Vasculopathy in a Child After Hemolytic Uremic Syndrome: A Possible Etiopathogenesis. Neuropediatrics (2008)

M. SinglaE. JohnG. HidalgoD. GrewalC. Macmillan

hemolytic uremic syndromeneurologyhematologyurologymoyamoya vasculopathychild neurologypediatrics

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Carol Macmillan

Associate Professor of Pediatrics

University of Chicago

Affiliations

Pediatrics, Department of

Physical Sciences Division

Carol Macmillan is currently serving as a Pediatrics, Department Of Associate Professor of Pediatrics at University of Chicago.

Honors

Create free account to unlock more features

Experiences

Create free account to unlock more features

Education

Create free account to unlock more features

Carol Macmillan

University of Chicago

Associate Professor of Pediatrics

You can click a keyword to filter the displayed items

Video Presentations

Notable Scholarly Works

Notable Federal Grants

Collaborators

geneticspharyngeal lymphoid tissuedevelopmental neurobiologysymptomatic overgrowthneurodevelopmental disordersneuroscienceheterozygous variantsfetal hemoglobin

Bi-Allelic Jam2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification. The American Journal of Human Genetics (2020)

Clinical and Neurocognitive Issues Associated With Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome: A Case Study. American Journal of Medical Genetics Part A (2019)

Erin K. BojanekMatthew W. MosconiStephen GuterCatalina BetancurCarol MacmillanEdwin H. Cook

neurologyneurogeneticsgeneticsmedical geneticsneuroscience

De Novo Unbalanced Translocation (4P Duplication/8P Deletion) in a Patient With Autism, Ocd, and Overgrowth Syndrome. American Journal of Medical Genetics Part A (2017)

Angela SagarDalila PintoFedra NajjarStephen J. GuterCarol MacmillanEdwin H. Cook

General Health Concerns for Children With Epilepsy. Journal of Pediatric Epilepsy (2015)

Carol Macmillan

Rare Inherited A2Bp1 Deletion in a Proband With Autism and Developmental Hemiparesis. American Journal of Medical Genetics Part A (2012)

L.K. DavisN. MaltmanM.W. MosconiC. MacmillanL. SchmittK. MooreS.M. FrancisS. JacobJ.A. SweeneyE.H. Cook

genomicsdevelopmental hemiparesisgeneticsautismmedical geneticshuman geneticspopulation genetics

Neurobehavioral Abnormalities in First-Degree Relatives of Individuals With Autism. Archives of General Psychiatry (2010)

Matthew W. MosconiMargaret KayAnna-Maria D’CruzStephen GuterKush KapurCarol MacmillanLisa D. StanfordJohn A. Sweeney

first-degree relativesbehavioral neurosciencepsychiatryneurobehavioral abnormalitiesneuropsychiatryneuroscienceautism

Carol Macmillan

development mediachild developmentmiddle childhoodchild neurologyneuroscience

Balancing Risks: Dosing Strategies for Antidepressants Near the End of Pregnancy. The Journal of Clinical Psychiatry (2008)

Laura J MillerJeffrey R BishopJames H FischerStacie E GellerCarol Macmillan

mental healthpsychiatryclinical psychiatrydosing strategiestreatment options

Moyamoya Vasculopathy in a Child After Hemolytic Uremic Syndrome: A Possible Etiopathogenesis. Neuropediatrics (2008)

M. SinglaE. JohnG. HidalgoD. GrewalC. Macmillan

hemolytic uremic syndromeneurologyhematologyurologymoyamoya vasculopathychild neurologypediatrics

1
2
10 / page

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