AnitaEBeckMDPhD(She/Her)

PubMed

• 4 citations
  Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.
  Franziska Roessler, Anita E Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T Greally, M...> ;American Journal of Medical Genetics. Part A. 2023 Feb 1
• Response to Hamosh et al.
  Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian H.Y. ...> ;American Journal of Human Genetics. 2021 Sep 2
• 63 citations
  A dyadic approach to the delineation of diagnostic entities in clinical genomics.
  Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian H.Y. ...> ;American Journal of Human Genetics. 2021 Jan 7
• 5 citations
  5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation
  Fabiola Quintero-Rivera, Celeste Eno, Christine Sutanto, Kelly L. Jones, Małgorzata J.M. Nowaczyk, Derek Wong, Dawn L. Earl, Ghayda M. Mirzaa, Anita E. Beck, Julian A....> ;Human Genetics. 2021 Jan 3
• 5 citations
  Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
  Sheri A. Poskanzer, Matthew J. Schultz, Coleman T. Turgeon, Noemi Vidal-Folch, Kris Liedtke, Devin Oglesbee, Dimitar Gavrilov, Silvia Tortorelli, Dietrich Matern, Pier...> ;American Journal of Medical Genetics. Part A. 2021 Jan 1
• 11 citations
  The spectrum of brain malformations and disruptions in twins
  Kaylee B Park, Teresa Chapman, Kimberly A. Aldinger, Ghayda M. Mirzaa, Jordan Zeiger, Anita E. Beck, Ian A. Glass, Robert F. Hevner, Anna Jansen, Desiree A. Marshall, ...> ;American Journal of Medical Genetics. Part A. 2021 Sep 1
• 16 citations
  Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
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• 20 citations
  Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
  Tara L. Wenger, Randall A. Bly, Natalie Wu, Catherine M. Albert, Julie Park, Joseph T. Shieh, Jirat Chenbhanich, Carrie L. Heike, Margaret P. Adam, Irene Chang, Angela...> ;American Journal of Medical Genetics. Part A. 2020 Jul 1
• 18 citations
  De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
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• 4 citations
  Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
  Lauren B. Carter, Agatino Battaglia, Athena M. Cherry, Melanie A. Manning, Maura R.Z. Ruzhnikov, Lynne M. Bird, Leah Dowsett, John M. Graham, Fowzan S. Alkuraya, Mais ...> ;American Journal of Medical Genetics. Part A. 2019 Jun 17
• 57 citations
  Autism and developmental disability caused by KCNQ3 gain-of-function variants.
  Tristan T. Sands, Francesco Miceli, Gaetan Lesca, Anita E. Beck, Lynette G. Sadleir, Daniel K. Arrington, Bitten Schönewolf-Greulich, Sébastien Moutton, Anna Lauritano...> ;Annals of Neurology. 2019 Jun 8
• 14 citations
  Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
  Sarah E Sheppard, Emilie Lalonde, N. Scott Adzick, Anita E. Beck, Tricia R. Bhatti, Diva D. De León, Kelly A. Duffy, Arupa Ganguly, Evan R Hathaway, Jianling Ji, Rebec...> ;Genetics in Medicine. 2019 May 31
• 48 citations
  Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
  Yuri A. Zarate, Constance Smith-Hicks, Carol L. Greene, Mary-Alice Abbott, Victoria Mok Siu, Amy R. U. L. Calhoun, Arti Pandya, Chumei Li, Elizabeth A. Sellars, Julie ...> ;American Journal of Medical Genetics. Part A. 2018 Apr 1
• 15 citations
  Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: poi...
  Lynn Wein Bush, Anita E. Beck, Leslie G. Biesecker, James P. Evans, Ada Hamosh, Ingrid A. Holm, Christa Lese Martin, C. Sue Richards, Heidi L. Rehm> ;Genetics in Medicine. 2018 Jan 11
• 45 citations
  Identification of novel candidate disease genes from de novo exonic copy number variants
  Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Amber N. Pursley, Sandesh C.S. Nagamani, Ronit Marom, Sailaja Golla, Lauren De...> ;Genome Medicine. 2017 Sep 21
• 33 citations
  Contractile properties of developing human fetal cardiac muscle
  Alice Ward Racca, Jordan M. Klaiman, J. Manuel Pioner, Yuanhua Cheng, Anita E. Beck, Farid Moussavi-Harami, Michael J. Bamshad, Michael Regnier> ;The Journal of Physiology. 2016 Jan 15
• 45 citations
  The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle
  Alice Ward Racca, Anita E. Beck, Margaret J. McMillin, F. Steven Korte, Michael J. Bamshad, Michael Regnier> ;Human Molecular Genetics. 2015 Jun 15
• 52 citations
  Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
  Jessica X. Chong, Lindsay C. Burrage, Anita E. Beck, Colby T. Marvin, Margaret J. McMillin, Kathryn M. Shively, Tanya M. Harrell, Kati J. Buckingham, Carlos A. Bacino,...> ;American Journal of Human Genetics. 2015 May 7
• 2 citations
  Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families.
  Fernanda Delgado, Holly K. Tabor, Penny Chow, Jessie H. Conta, Kenneth W. Feldman, Karen D. Tsuchiya, Anita E. Beck> ;Genetics in Medicine. 2015 May 1
• 103 citations
  De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
  Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively, Anita E. Beck, Colby T. Marvin, Jose R. Armenteros, Kati J. Buckingham, Naomi T. Nkinsi, Evan A. Boyle, Mar...> ;American Journal of Human Genetics. 2015 Mar 5
• 1 citations
  Institutional Protocol to Manage Consanguinity Detected by Genetic Testing in Pregnancy in a Minor
  Laura P. Chen, Anita E. Beck, Karen D. Tsuchiya, Penny Chow, Ghayda Mirzaa, Rebecca T. Wiester, Kenneth W. Feldman> ;Pediatrics. 2015 Mar 1
• 42 citations
  Genotype-phenotype relationships in Freeman–Sheldon syndrome
  Anita E. Beck, Margaret J. McMillin, Heidi I. S. Gildersleeve, Kathryn M. Shively, Andy Tang, Michael J. Bamshad> ;American Journal of Medical Genetics. Part A. 2014 Nov 1
• 142 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, Heidi I. S. Gildersleeve, Mariana Aracena, Arthur S. Aylsworth, Pierre B...> ;American Journal of Human Genetics. 2014 May 1
• 31 citations
  Contractility and kinetics of human fetal and human adult skeletal muscle.
  Alice Ward Racca, Anita E. Beck, Vijay S. Rao, Galina V. Flint, Scott Lundy, Donald E. Born, Michael J. Bamshad, Michael Regnier> ;The Journal of Physiology. 2013 Jun 15
• 49 citations
  Mutations in KCTD1 cause scalp-ear-nipple syndrome
  Alexander G. Marneros, Anita E. Beck, Emily H. Turner, Margaret J. McMillin, Matthew S. Edwards, Michael Field, Nara Sobreira, Ana Beatriz Alvarez Perez, Jose A.R. For...> ;American Journal of Human Genetics. 2013 Apr 4
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Abstracts/Posters

• 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
• 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
• Autosomal Dominant Deafness and Ectodermal Dysplasia Associated with Heterozygous Mutation in Connexin-26.
  Beck AE, Hoyme HE, and Hudgins L, 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• Genetic and Molecular Basis of Congenital Contractures.
  Beck AE, NIH/NICHD Structural Birth Defects working group, Bethesda, MD
• 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
• Contractile Properties of Human Fetal Skeletal muscle proteins.
  Ward AW, Flint G, Beck AE, Bamshad MJ, Regnier M, Biophysical Society meeting, San Francisco, CA
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
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Lectures

• Fast Muscles & Tight Joints: Genetics of Arthrogryposis. 
  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
• Phenotypic Characterization of Distal Arthrogryposis Type 5: “The ‘eyes’ have it. 
  Northwest Genetics Exchange – Seattle, WA
• 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 Familial Oculo-Auriculo-Vertebral Spectrum (OAVS). 
  Children’s Hospital and Regional Medical Center, 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
• To the rescue: SOS1 mutations in Noonan syndrome. 
  Medical Genetics Journal Club - University of Washington, Seattle, Washington
• Chromosome Instability. 
  Medical Genetics Grand Rounds - Stanford University
• Ectodermal Dysplasias: Only Skin Deep. 
  Medical Genetics Grand Rounds - Stanford University
• The Genetics of Congenital Cardiac Malformations. 
  Medical Genetics Grand Rounds - Stanford University
• NARP/Leigh Continuum: The T8993G/C Mitochondrial Mutation. 
  Medical Genetics Grand Rounds - Stanford University
• Chargeing Ahead: Genetics Of An Association Syndrome. 
  Medical Genetics Grand Rounds - Stanford University
• Are G Quartets the Answer to the Fragile X Question. 
  Human Genetics Journal Club - Stanford University
• Bridging the Gap in Clefting Knowledge. 
  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
• Narrowing in on the Neurocognitive Phenotype of Williams Syndrome. 
  Human Genetics Journal Club - Stanford University
• The Fanconi Anemia and Breast Cancer Connection. 
  Cancer Genetics Conference – Stanford University
• Long-Chain L-3-hydroxylacyl CoA Dehydrogenase (LCHAD) deficiency/Trifunctional Protein Deficiency. 
  Biochemical Genetics Conference – Stanford University.
• Disorders of the Urea Cycle. 
  Biochemical Genetics Conference – Stanford University
• Menkes Disease. 
  Biochemical Genetics Conference – Stanford University
• Multiple Endocrine Neoplasia Type 1. 
  Clinical Pathological Conference - Joint Stanford University/University of California San Francisco
• Autosomal Dominant Oculo-Auriculo-Vertebral Spectrum. 
  Northern California Genetics Exchange - Stanford, California
• The Genetic Segment of the Oculo-auriculo-vertebral Spectrum: A Call for Additional Familial Cases. 
  Northern California Genetics Exchange - Stanford, California
• Balancing Research, Clinical, Family and Self in Seattle: one Physician-Scientist’s Story 
  Seattle Children’s Hospital Pediatric Physician-Scientist Intern Recruitment – Seattle, WA
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