AnitaEBeckMDPhD(She/Her)

PubMed

• 149 citations
  Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
  Margaret J. McMillin, Anita E. Beck, Jessica X. Chong, Kathryn M. Shively, Kati J. Buckingham
  American Journal of Human Genetics. 2014-05-01
• 948 citations
  Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
  Sarah B. Ng, Abigail W. Bigham, Kati J. Buckingham, Mark C. Hannibal, Margaret J. McMillin
  Nature Genetics. 2010-09-01
• 18 citations
  Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
  Pauline E. Schneeberger, Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer
  Brain. 2020-08-01

Abstracts/Posters

• Transcriptional profile of the embryonic myosin heavy chain gene MYH3 responsible for two congenital distal arthrogryposis syndrome subtypes.
  Beck AE, Ward AW, Rieder M, Regnier M, Bamshad MJ, American Society of Human Genetics meeting, Honolulu, Hawaii
• Phenotypic characterization of distal arthrogryposis type 5 in 57 affected individuals from 26 pedigrees: The ‘eyes’ have it.
  Beck AE, McMillin MJ, Bamshad MJ, Workshop on Malformations and Morphogenesis, Lake Lanier Islands Resort, Buford, GA
• Distal arthrogryposis type 5D: a new autosomal recessive syndrome.
  McMillin MJ, Beck AE, J. Pinner J, Mehta SG, Grange DK, Gogola GR, Hecht JT, Harris DJ, Jagadeesh S, Garavelli L, Earl DL, Bamshad MJ, American Society of Human Genetics meeting, Montreal, Canada
• Genotype/Phenotype relationships in 90 mutation-positive kindreds with distal arthrogryposis Types 1, 2A, and 2B.
  Beck AE, McMillin MJ, Gildersleeve HI, Kezele PR, Bofferding KM, Toydemir R, Bamshad MJ, Smith Workshop on Malformations and Morphogenesis, UCLA Lake Arrowhead Conference Center, Lake Arrowhead, CA
• Genetic and Molecular Basis of Congenital Distal Limb Contractures.
  AE, McMillin MJ, Gildersleeve HI, Bofferding KM, Bamshad MJ, NIH/NICHD Structural Birth Defects working group, Bethesda, MD
• Discovery of a gene for Kabuki syndrome by exome sequencing and genotype-phenotype relationship in 110 cases.
  Hannibal MC, Ng SB, Bigham AW, Buckingham KW, Niikawa N, Ming JE, Zackai EH, Donnai D, Morris CA, Shaikh TH, Banka S, McMillin M, Beck AE, Gildersleeve H, Tabor HK, Me..., American Society of Human Genetics meeting, Washington, DC
• Mutations in MYBPC2 cause Distal Arthrogryposis type 2B (DA2B).
  Gildersleeve HI, McMillin MJ, Beck AE, Bamshad MJ, American Society of Human Genetics meeting, Washington, DC
• Defects of embryonic myosin in Freeman-Sheldon syndrome reduce force and prolong relaxation of skeletal myofibers.
  Beck AE, Ward AW, McMillin MJ, Korte FS, Regnier M, Bamshad MJ, American Society of Human Genetics meeting, Washington, DC
• Defects of embryonic myosin in Freeman-Sheldon syndrome cause reduced force and prolonged relaxation of skeletal myofibers.
  Beck AE, Ward AW, McMillin MJ, Korte FS, Regnier M, Bamshad MJ, David W. Smith Workshop on Malformations and Morphogenesis, Union, WA
• Contractile Properties of Human Fetal Skeletal muscle proteins.
  Ward AW, Flint G, Beck AE, Bamshad MJ, Regnier M, Biophysical Society meeting, San Francisco, CA
• Congenital contracture syndrome caused by mutation in embryonic myosin heavy chain characterized by significant changes in adult muscle contractility.
  Ward AW, Beck AE, Bamshad MJ, Regnier M, Biophysical Society meeting, San Francisco, CA
• Genetic and Molecular Basis of Congenital Contractures.
  Beck AE, NIH/NICHD Structural Birth Defects working group, Bethesda, MD
• Autosomal Dominant Microtia and Coloboma: New Syndrome or an Extension of the Oculo-Auriculo-Vertebral Spectrum.
  Beck AE, Hudgins L and Hoyme HE, Journal of Investigative Medicine
• RNA expression analysis of all genes from skeletal muscles from staged human conceptuses provides proof of principle for creating a transcriptional ‘Fetal Atlas.
  IA, Beck AE, Ward AW, Mason J, Eisenhower M, Rieder M, Regnier M, Bamshad MJ, David W. Smith Workshop on Malformations and Morphogenesis
• Overlapping spectrum of mutations causing distal arthrogryposis type 1 and 2.
  Kezele P, Beck AE, McMillin MJ, Toydemir R, Bamshad MJ, American Society of Human Genetics meeting, Philadelphia, Pennsylvania
• Contractility of individual myofibers is altered in individuals with myosin mutations that cause Freeman-Sheldon syndrome.
  . Beck AE, McMillin MJ, Korte FS, Ward AW, Regnier M, Bamshad MJ, American Society of Human Genetics meeting, Philadelphia, Pennsylvania
• Decreased Ca2+-binding in a Skeletal Troponin C Mutant Disrupts Cooperative Interactions between Thin Filament Regulatory Units in Rabbit Psoas Muscle.
  Beck AE, Ward AW, Tanner BCW, Kreutziger KL, Regnier M, Biophysical Society meeting 2008
• Phenotypic characterization of familial oculo-auriculo-vertebral (OAV) spectrum: assessment of 19 additional families.
  Beck AE, Hudgins L, Grix AW, Robin NH, Chen E, Lazzeroni LC, Hoyme HE, Francke U, American Journal of Human Genetics 77
• Craniofrontonasal Dysplasia Syndrome.
  van Westen LM, Krahn K, Mach A, Bullard S, Bader P, Beck A, Braddock S, Clark R, Cunningham ML, McCarrier J, Miller M, Nino M, Slavotinek A, Lidral AC, J Dent Res 84
• the Variable Clinical Phenotype Associated with the T8993G NARP (Neuropathy, Ataxia, Retinitis Pigmentosa) Mitochondrial DNA Mutation Solely a Function of Degree of He...
  Beck AE, Bai R-K, Wong L-JC, Schelley S, Barsh GS, and Enns GM, Journal of Investigative Medicine
• utosomal Recessive Ehlers-Danlos Phenotype with Severe Valvular Disease Caused by Homozygous COL1A2 Premature Termination Mutations.
  Beck AE, Chen K, Schwarze U, Byers PH, and Hoyme HE, American Journal of Human Genetics
• Autosomal Dominant Deafness and Ectodermal Dysplasia Associated with Heterozygous Mutation in Connexin-26.
  Beck AE, Hoyme HE, and Hudgins L, Journal of Investigative Medicine
• Autosomal Dominant Oculo-Auriculo-Vertebral Spectrum: Report of Nine Additional Families.
  Beck AE, Hudgins L, Grix AW and Hoyme HE, Proceedings of the Greenwood Genetics Center
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Lectures

• Chargeing Ahead: Genetics Of An Association Syndrome. 
  Medical Genetics Grand Rounds - Stanford University
• The Genetic Segment of the Oculo-auriculo-vertebral Spectrum: A Call for Additional Familial Cases. 
  Northern California Genetics Exchange - Stanford, California
• Autosomal Dominant Oculo-Auriculo-Vertebral Spectrum. 
  Northern California Genetics Exchange - Stanford, California
• Multiple Endocrine Neoplasia Type 1. 
  Clinical Pathological Conference - Joint Stanford University/University of California San Francisco
• Menkes Disease. 
  Biochemical Genetics Conference – Stanford University
• Disorders of the Urea Cycle. 
  Biochemical Genetics Conference – Stanford University
• Long-Chain L-3-hydroxylacyl CoA Dehydrogenase (LCHAD) deficiency/Trifunctional Protein Deficiency. 
  Biochemical Genetics Conference – Stanford University.
• The Fanconi Anemia and Breast Cancer Connection. 
  Cancer Genetics Conference – Stanford University
• Narrowing in on the Neurocognitive Phenotype of Williams Syndrome. 
  Human Genetics Journal Club - Stanford University
• BAC to the Future: Implications of a Complete-Coverage Human BAC Microarray for Cancer and Microdeletion/Duplication Syndromes. 
  Human Genetics Journal Club - Stanford University
• Bridging the Gap in Clefting Knowledge. 
  Human Genetics Journal Club - Stanford University
• Are G Quartets the Answer to the Fragile X Question. 
  Human Genetics Journal Club - Stanford University
• Balancing Research, Clinical, Family and Self in Seattle: one Physician-Scientist’s Story 
  Seattle Children’s Hospital Pediatric Physician-Scientist Intern Recruitment – Seattle, WA
• NARP/Leigh Continuum: The T8993G/C Mitochondrial Mutation. 
  Medical Genetics Grand Rounds - Stanford University
• The Genetics of Congenital Cardiac Malformations. 
  Medical Genetics Grand Rounds - Stanford University
• Ectodermal Dysplasias: Only Skin Deep. 
  Medical Genetics Grand Rounds - Stanford University
• Chromosome Instability. 
  Medical Genetics Grand Rounds - Stanford University
• To the rescue: SOS1 mutations in Noonan syndrome. 
  Medical Genetics Journal Club - University of Washington, Seattle, Washington
• Convergence of Cardio-facio-cutaneous (CFC), Noonan & Costello syndromes: Sharing a Common Molecular Pathway. 
  Medical Genetics Journal Club - University of Washington, Seattle, Washington
• Phenotypic Characterization of Familial Oculo-Auriculo-Vertebral Spectrum (OAVS). 
  Children’s Hospital and Regional Medical Center, Seattle, Washington
• Genetic and Molecular Basis of Clubfeet: or ‘Why are my baby’s feet turned in. 
  University Of Washington Department Of Pediatrics – Uw Pi Research Seminar Series
• Phenotypic Characterization of Distal Arthrogryposis Type 5: “The ‘eyes’ have it. 
  Northwest Genetics Exchange – Seattle, WA
• Defects of embryonic myosin in Freeman-Sheldon syndrome cause reduced force and prolonged relaxation of skeletal myofibers. 
  Northwest Genetics Exchange – Seattle, WA
• Fast Muscles & Tight Joints: Genetics of Arthrogryposis. 
  Northwest Genetics Exchange – Seattle, WA
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