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Office
Barrow Neurological Institute at Phoenix Children's Hospital
1919 E. Thomas Rd
Phoenix, AZ 85016Phone+1 602-933-1000- Is this information wrong?
Summary
- I am a pediatric neurologist and medical researcher specializing in the genetic basis of movement disorders
Education & Training
- Oregon Health & Science UniversityPost-Doctoral Fellowship, Molecular Neurogenetics, 2009 - 2011
- Oregon Health & Science UniversityNeurodevelopmental Pediatrics, 2007 - 2011
- Phoenix Children's HospitalResidency, Pediatrics, 2005 - 2007
- University of Arizona College of MedicineClass of 2005
- Arizona State UniversityBachelor's, Microbiology & Psychology, Magna Cum Laude, 1996 - 2001
Certifications & Licensure
- OR State Medical License 2007 - Present
- AZ State Medical License 2015 - 2026
- SD State Medical License Active through 2016
- American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
- American Board of Psychiatry and Neurology Neurodevelopmental Disabilities
Awards, Honors, & Recognition
- Most Recommended Physician Sanford Children's Specialty Clinic, 2015
- Clinical Scientist Development Award Doris Duke Charitable Foundation, 2014
- Shields Award Child Neurology Foundation, 2011
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Clinical Trials
- The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias Start of enrollment: 2011 Jan 01
Publications & Presentations
PubMed
- Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari-Tiri, Juliette Piard, Christine Coubes, Wa...> ;European Journal of Human Genetics. 2024 Apr 3
- Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.Charlotte Herbst, Viktoria Bothe, Meret Wegler, Susanne Axer-Schaefer, Séverine Audebert-Bellanger, Jozef Gecz, Benjamin Cogne, Hagit Baris Feldman, Anselm H C Horn, A...> ;Human Genetics. 2024 Mar 25
- Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz...> ;NPJ Genomic Medicine. 2024 Mar 1
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Journal Articles
- A novel porcine model of Ataxia Telangiectasia reproduces neurological features and motor deficits of human diseaseBeraldi R, Chan CH, Rogers CS, Kovacs AD, Meyerholz DK, Trantzas C, Lambertz AM, Darbro BW, Weber KL, White KA, Rheeden RV, Kruer MC, Dacken BA, Wang XJ, Davis BT, Roh..., Hum Mol Genet, 1/15/2015
- Mutation in GM2A leads to a progressive chorea-dementia syndromeSalih MA, Seidahmed MZ, El Khashab HY, Hamad MHA, Bosley TM, Burn S, Myers A, Landsverk M, Crotwell PL, Bilguvar K, Mane S, Kruer MC, Tremor Other Hyperkinet Mov (NY), 1/9/2015
- Mutations in DDX3X are common drivers of unresolved intellectual disability with gender-specific effects on WNT signalingSnijders Blok L, Madsen E, Juusola J, Gillissen C, Baralle D, Reijnders M, Venselaar H, Helsmoortel C, Hoischen A, Vissers L, Koemans T, Wissink W, Eichler EE, Romano ..., Am J Hum Genet, 1/6/2015
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Books/Book Chapters
Abstracts/Posters
- Mutations in the AMPA Receptor Complex Protein FRRS1L Cause an Inherited Huntington-Like Chorea-Dementia Syndrome.Salih MA, Madeo M, Fields L, Jepperson TN, Seidahmed M, El Khashab H, Hamad M, Kruer MC, 67th American Academy of Neurology Annual Meeting, Washington, DC, 1/18/2015
- ADD3 and KANK1: roles in dendrite morphology.Brudvig J, Sahir N, Cain J, Weimer JM, Kruer MC, Neuroscience 2015, Society for Neuroscience, Chicago, IL, 1/17/2015
- Mutations in adaptor protein AP-5 subunits lead to peripheral neuropathy, spastic paraplegia and parkinsonism with aberrant endolysosomes.Madeo M, Edgar J, Darios F, Yarrow A, Jepperson TN, Li J, Blackstone C, Robinson MS, Hirst J, Kruer MC, 64th Annual Meeting of the American Society of Human Genetics, San Diego, CA, 1/18/2014
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Lectures
- Advances in CP Genetics: implications for diagnosis and treatment.Texas Scottish Rite Hospital for Children, Dallas, TX - 1/1/2015
- The genetic basis of cerebral palsy: novel findings shed new light on a once well-understood disease.Tucson, AZ - 1/1/2015
- What genomics is teaching us about spastic cerebral palsy.Calgary, AB Canada - 1/1/2015
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Other
- "Lysosomal Storage Disorders More Common Than Thought" (Expert commentary)Kruer MC, Medscape Neurology News
http://www.medscape.com/viewarticle/754627
1/2/2011 - Lysosomal storage diseases.Kruer MC and Steiner RD, eMedicine Neurology
1/1/2011 - Myoclonic epilepsy in infancy and early childhood.Kruer MC, eMedicine Neurology
1/1/2011 - Join now to see all
Press Mentions
- Datavant and the Cerebral Palsy Research Network Announce Partnership to Enable Investigation of Genetic Basis of Cerebral PalsyMarch 4th, 2021
- Internationally Renowned Physician-Researcher Joins Phoenix Children’s, UArizona College of Medicine – PhoenixFebruary 9th, 2021
- New Study Challenges Previous Understanding About the Causes of Cerebral PalsyOctober 20th, 2020
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Professional Memberships
- Member
- Member
Hospital Affiliations
- Phoenix Children'sPhoenix, Arizona
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