Anita E. Beck, MD, PhD

Genetics

On staff since March 2010

Research Center: Center for Clinical and Translational Research

"Compassionate care involves including the family as part of the team. I enjoy applying cutting-edge research findings to address human concerns."

  • Award Name Award Description Awarded By Award Date
    Seattle Met magazine "Top Doctor" 2012
    National Institutes of Health (NIH)/ National Institute of Child Health and Development (NICHD) 5-year Mentored Patient-Oriented Research Career Development Award (K23): “Identifying the Genetic and Molecular Basis of Clubfoot” NIH/NICHD Jan. 1, 2009
    Scholarship (tuition and board) "Genetic Analysis of Complex Human Diseases" Course Duke University, Durham NC 2004
    Fellowship award NIGMS/NIH grant for "Postdoctoral Training in Medical Genetics" Stanford University 2003 - 2005
  • Other Publications

    • Wenger TL, Bly RA, Wu N, Albert CM, Park J, Shieh J, Chenbhanich J, Heike CL, Adam MP, Chang I, Sun A, Miller DE, Beck AE, Gupta D, Boos MD, Zackai EH, Everman D, Ganapathi S, Wilson M, Christodoulou J, Zarate YA, Curry C, Li D, Guimier A, Amiel J, Hakonarson H, Webster R, Bhoj EJ, Perkins JA, Dahl JP, Dobyns WB
      Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
      32500973 American journal of medical genetics. Part A, 2020 July : 182(7)1576-1591
    • Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Kury S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, Undiagnosed Diseases Network., Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT
      De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
      32197074 American journal of human genetics, 2020 April 2 : 106(4)570-583 PMCID:PMC7118694
    • Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA, Undiagnosed Diseases Network,., Eichler EE, Vincent JB, University of Washington Center for Mendelian Genomics (UW-CMG),., Bamshad MJ
      De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
      31723249 Genetics in medicine : official journal of the American College of Medical Genetics, 2020 March : 22(3)538-546 PMCID:PMC7060121
    • Sheppard SE, Lalonde E, Adzick NS, Beck AE, Bhatti T, De Leon DD, Duffy KA, Ganguly A, Hathaway E, Ji J, Linn R, Lord K, Randolph LM, Sajorda B, States L, Conlin LK, Kalish JM
      Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
      31147633 Genetics in medicine : official journal of the American College of Medical Genetics, 2019 Nov. : 21(11)2644-2649
    • Sands TT, Miceli F, Lesca G, Beck AE, Sadleir LG, Arrington DK, Schönewolf-Greulich B, Moutton S, Lauritano A, Nappi P, Soldovieri MV, Scheffer IE, Mefford HC, Stong N, Heinzen EL, Goldstein DB, Perez AG, Kossoff EH, Stocco A, Sullivan JA, Shashi V, Gerard B, Francannet C, Bisgaard AM, Tümer Z, Willems M, Rivier F, Vitobello A, Thakkar K, Rajan DS, Barkovich AJ, Weckhuysen S, Cooper EC, Taglialatela M, Cilio MR
      Autism and developmental disability caused by KCNQ3 gain-of-function variants.
      31177578 Annals of neurology, 2019 Aug. : 86(2)181-192
    • Carter LB, Battaglia A, Cherry A, Manning MA, Ruzhnikov MR, Bird LM, Dowsett L, Graham JM Jr, Alkuraya FS, Hashem M, Dinulos MB, Vallee S, Adam MP, Glass I, Beck AE, Stevens CA, Zackai E, McDougall C, Keena B, Peron A, Vignoli A, Seaver LH, Slavin TP, Hudgins L
      Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
      31207089 American journal of medical genetics. Part A, 2019 Aug. : 179(8)1543-1546 PMCID:PMC7254578
    • Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK
      Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
      29436146 American journal of medical genetics. Part A, 2018 April : 176(4)925-935
    • Bush LW, Beck AE, Biesecker LG, Evans JP, Hamosh A, Holm IA, Martin CL, Richards CS, Rehm HL
      Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).
      29323668 Genetics in medicine : official journal of the American College of Medical Genetics, 2018 Feb. : 20(2)169-171 PMCID:PMC5931217
    • Salehi P, Stafford HJ, Glass RP, Leavitt A, Beck AE, McAfee A, Ambartsumyan L, Chen M
      Silent aspiration in infants with Prader-Willi syndrome identified by videofluoroscopic swallow study.
      29390364 Medicine, 2017 Dec. : 96(50)e9256 PMCID:PMC5815776
    • Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Faivre L, Lefebvre M, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P
      Identification of novel candidate disease genes from de novo exonic copy number variants.
      28934986 Genome medicine, 2017 Sept. 21 : 9(1)83 PMCID:PMC5607840
    • Racca AW, Klaiman JM, Pioner JM, Cheng Y, Beck AE, Moussavi-Harami F, Bamshad MJ, Regnier M
      Contractile properties of developing human fetal cardiac muscle.
      26460603 The Journal of physiology, 2016 Jan. 15 : 594(2)437-52 PMCID:PMC4713728
    • Racca AW, Beck AE, McMillin MJ, Korte FS, Bamshad MJ, Regnier M
      The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.
      25740846 Human molecular genetics, 2015 June 15 : 24(12)3348-58 PMCID:PMC4481580
    • Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA, University of Washington Center for Mendelian Genomics., Bamshad MJ
      Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
      25957469 American journal of human genetics, 2015 May 7 : 96(5)841-9 PMCID:PMC4570285
    • Delgado F, Tabor HK, Chow PM, Conta JH, Feldman KW, Tsuchiya KD, Beck AE
      Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families.
      25232848 Genetics in medicine : official journal of the American College of Medical Genetics, 2015 May : 17(5)400-4 PMCID:PMC4404161
    • Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA, University of Washington Center for Mendelian Genomics., Bamshad MJ
      De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
      25683120 American journal of human genetics, 2015 March 5 : 96(3)462-73 PMCID:PMC4375444
    • Chen LP, Beck AE, Tsuchiya KD, Chow PM, Mirzaa GM, Wiester RT, Feldman KW
      Institutional protocol to manage consanguinity detected by genetic testing in pregnancy in a minor.
      25687148 Pediatrics, 2015 March : 135(3)e736-9 PMCID:PMC4338324
    • Salehi P, Leavitt A, Beck AE, Chen ML, Roth CL
      Obesity management in Prader-Willi syndrome.
      25962207 Pediatric endocrinology reviews : PER, 2015 March : 12(3)297-307
    • Chen LP, Beck AE, Tsuchiya KD, Chow PM, Mirzaa GM, Wiester RT, Feldman KW
      Institutional protocol to manage consanguinity detected by genetic testing in pregnancy in a minor.
      25687148 Pediatrics, 2015 March : 135(3)e736-9 PMCID:PMC4338324
    • Beck AE, McMillin MJ, Gildersleeve HI, Shively KM, Tang A, Bamshad MJ
      Genotype-phenotype relationships in Freeman-Sheldon syndrome.
      25256237 American journal of medical genetics. Part A, 2014 Nov. : 164A(11)2808-13
    • McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA, University of Washington Center for Mendelian Genomics., Bamshad MJ
      Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
      24726473 American journal of human genetics, 2014 May 1 : 94(5)734-44 PMCID:PMC4067551
    • Racca AW, Beck AE, Rao VS, Flint GV, Lundy SD, Born DE, Bamshad MJ, Regnier M
      Contractility and kinetics of human fetal and human adult skeletal muscle.
      23629510 The Journal of physiology, 2013 June 15 : 591(12)3049-61 PMCID:PMC3832119
    • Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, de Macena Sobreira NL, Perez AB, Fortes JA, Lampe AK, Giovannucci Uzielli ML, Gordon CT, Plessis G, Le Merrer M, Amiel J, Reichenberger E, Shively KM, Cerrato F, Labow BI, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics.
      Mutations in KCTD1 cause scalp-ear-nipple syndrome.
      23541344 American journal of human genetics, 2013 April 4 : 92(4)621-6 PMCID:PMC3617379
    • Beck AE, McMillin MJ, Gildersleeve HI, Kezele PR, Shively KM, Carey JC, Regnier M, Bamshad MJ
      Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.
      23401156 American journal of medical genetics. Part A, 2013 March : 161A(3)550-5 PMCID:PMC3581718
    • McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics.
      Mutations in ECEL1 cause distal arthrogryposis type 5D.
      23261301 American journal of human genetics, 2013 Jan. 10 : 92(1)150-6 PMCID:PMC3542461
    • Weymouth KS, Blanton SH, Bamshad MJ, Beck AE, Alvarez C, Richards S, Gurnett CA, Dobbs MB, Barnes D, Mitchell LE, Hecht JT
      Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.
      21834041 American journal of medical genetics. Part A, 2011 Sept. : 155A(9)2170-9 PMCID:PMC3158831
    • Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ
      Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
      21671394 American journal of medical genetics. Part A, 2011 July : 155A(7)1511-6 PMCID:PMC3121928
    • Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J
      Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
      20711175 Nature genetics, 2010 Sept. : 790-3 PMCID:PMC2930028
    • Enns GM, Bai RK, Beck AE, Wong LJ
      Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load.
      16546428 Molecular genetics and metabolism, 2006 Aug. : 88(4)364-71
    • Beck AE, Hudgins L, Hoyme HE
      Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?
      15800906 American journal of medical genetics. Part A, 2005 May 1 : 359-62
    • Adam MP, Manning MA, Beck AE, Kwan A, Enns GM, Clericuzio C, Hoyme HE
      Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion.
      14556250 American journal of medical genetics. Part A, 2003 Nov. 15 : 72-8

  • Presentations Title Event Location Date
    Defects of embryonic myosin in Freeman-Sheldon syndrome cause reduced force and prolonged relaxation of skeletal myofibers Northwest Genetics Exchange Seattle, WA 2010
    Phenotypic Characterization of Familial Oculo-Auriculo-Vertebral Spectrum (OAVS) Department of Pediatrics Fellows Research Day Seattle, WA 2006
  • Grant Title Grantor Amount Award Date
    Genetic Basis of Conductive Deafness UW Institute of Translational Health Sciences $20,000 June 1, 2013 - May 31, 2014
    Identifying the Genetic and Molecular Basis of Clubfoot NIH, NICHD $635,580.00 Sept. 30, 2009

Overview

Board Certification(s)

Pediatrics
Clinical Genetics (MD)

Medical/Professional School

Washington University School of Medicine, St Louis

Residency

Pediatrics, University of California - San Francisco, San Francisco

Fellowship

Medical Biochemical Genetics, Stanford University School of Medicine, Stanford
Stanford University - Dept of Medical Genetics, Stanford
Medical Biochemical Genetics, University of Washington, Seattle

Clinical Interests

Dr. Beck’s clinical and research interests are in the elucidation of the genetic causes underlying structural birth differences in children in order to provide improved care for children with genetic syndromes. Her clinical care, both outpatient and inpatient, is based at Seattle Children’s Hospital (SCH) with genetic outreach to other hospitals locally (the University of Washington and Swedish Hospitals) and regionally (Virginia Mason Memorial Hospital in Yakima and St. Luke’s Hospital in Boise, Idaho). She provides additional genetic expertise by attending in several multidisciplinary clinics at SCH.

As part of another SCH multidisciplinary team, Dr. Beck cares for children with a condition called Prader-Willi syndrome (PWS). Individuals with PWS are born with such low muscle tone that they usually need alternate feeding methods in the first few months of life. This low muscle tone improves over time, particularly with the use of growth hormone. However, lack of satiety after eating becomes a serious issue after a few years of age, and learning problems are common. The initial screening test for PWS (a methylation study) is very accurate, but then determining which of several underlying molecular reasons for PWS is more challenging. As part of this team, Dr. Beck studies ways to improve our clinical and molecular understanding of this condition in order to improve care in children with PWS.

Applying her research background in the molecular genetics of and physiologic effect on muscle of congenital contracture syndromes that involve the hands and feet (“distal arthrogryposis”), Dr. Beck follows children with many different types of limb contractures at the SCH Arthrogryposis multidisciplinary clinic. Designing custom panels to sequence a large number of genes that can cause contractures has been very helpful in providing answers and subsequently more tailored management recommendations to patients and their families in this heterogeneous group of conditions.


Dr. Beck has also had a long-standing interest in ear malformations that are inherited in families. Specifically, two conditions that Dr. Beck studies are the oculo-auriculo-vertebral spectrum (OAVS) and isolated familial microtia. The genetic contributions to these two ear malformation syndromes are not yet well understood. However, the autosomal dominant inheritance patterns of these birth defects make them good candidates for gene discovery.