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Gerald Schaefer

InstitutionUniversity of Arkansas for Medical Sciences
DepartmentPeds Pediatrics, College of Medicine
DivisionPeds Genetics
Address ACH Administration
1125 N. College
Mail Slot # 512-22
Fayetteville AR 72703
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    T73MC11045     (TILFORD, JOHN M)Jul 1, 2021 - Jun 30, 2026
    Health Resources & Services Administration
    Leadership Education in Neurodevelopmental and Other Disabilities (LEND)
    Role: Co-Investigator

    UH7MC35353     (DEAN, LORI)Jun 1, 2020 - May 31, 2024
    Health Resources & Services Administration - Pass Through: University of Oklahoma Health Sciences Center
    Heartland Regional Genetics Network
    Role: Co-Investigator

    UH7MC30777     (DEAN, LORI W)Jun 1, 2017 - May 31, 2022
    Health Resources & Services Administration
    Heartland Regional Genetics Network - Continuation - Continuation
    Role: Co-Investigator

    T73MC11045­     (FUSSELL, JILL)Jul 1, 2016 - Jun 30, 2021
    Health Resources & Services Administration
    Leadership Education in Neurodevelopmental and Other Related Disabilities (LEND)
    Role: Co-Investigator

    ACRI # 034493     (SCHAEFER, GERALD B)Jun 1, 2012 - May 31, 2018
    UAMS ACHRI Flow Through
    Heartland Regional Genetics Collaborative (ACHRI # 034490)
    Role: Principal Investigator

    ACRI#034493     (SCHAEFER, GERALD B)Jun 1, 2012 - May 31, 2018
    UAMS ACHRI Flow Through
    Heartland Regional Genetics Collaborative (ACHRI # 034490)
    Role: Principal Investigator

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    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions. Don't see publications published under other names? Login to add alternative names.
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    1. Kilgore DA, Kilgore TA, Sukpraprut-Braaten S, Schaefer GB, Uwaydat SH. Multimodal imaging of an RPGR carrier female. Ophthalmic Genet. 2021 06; 42(3):312-316. PMID: 33620278.
      View in: PubMed
    2. Zarate YA, Boccuto L, Srikanth S, Pauly R, Ocal E, Balmakund T, Hinkle K, Stefans V, Schaefer GB, Collins RT. Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome. Am J Med Genet A. 2019 06; 179(6):1047-1052. PMID: 30941910.
      View in: PubMed
    3. Nembhard WN, Tang X, Li J, MacLeod SL, Levy J, Schaefer GB, Hobbs CA. A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defects. Am J Med Genet A. 2018 03; 176(3):609-617. PMID: 29399948.
      View in: PubMed
    4. Kubendran S, Sivamurthy S, Schaefer GB. A novel approach in pediatric telegenetic services: geneticist, pediatrician and genetic counselor team. Genet Med. 2017 11; 19(11):1260-1267. PMID: 28471436.
      View in: PubMed
    5. Walters WD, Garnica AD, Schaefer GB. McArdle Disease Presenting With Muscle Pain in a Teenage Girl: The Role of Whole-Exome Sequencing in Neurogenetic Disorders. Semin Pediatr Neurol. 2018 07; 26:50-51. PMID: 29961518.
      View in: PubMed
    6. Knight Johnson A, Schaefer GB, Lee J, Hu Y, Del Gaudio D. Alu-mediated deletion of PIGL in a Patient with CHIME syndrome. Am J Med Genet A. 2017 May; 173(5):1378-1382. PMID: 28371479.
      View in: PubMed
    7. Schaefer GB. Correction: G. Bradley Schaefer. Clinical Genetic Aspects of ASD Spectrum Disorders. Int. J. Mol. Sci. 2016, 17, 180. Int J Mol Sci. 2016 Sep 19; 17(9). PMID: 27657040.
      View in: PubMed
    8. Schaefer GB. Clinical Genetic Aspects of ASD Spectrum Disorders. Int J Mol Sci. 2016 Jan 29; 17(2). PMID: 26840296.
      View in: PubMed
    9. Schaefer GB, Larson IA, Bolick J, Williamson-Dean L. What is the role of clinical genetics in the patient-centered medical home?: A commentary from the Medical Home Workgroup of the Heartland Regional Genetics and Newborn Screening Collaborative. Genet Med. 2016 05; 18(5):440-2. PMID: 26291599.
      View in: PubMed
    10. Schaefer GB. Editorial comment: An unusual cause of peroneal neuropathy. Semin Pediatr Neurol. 2014 Jun; 21(2):82-3. PMID: 25149930.
      View in: PubMed
    11. Schaefer GB. Editorial comment: Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis. Semin Pediatr Neurol. 2014 Jun; 21(2):172. PMID: 25149957.
      View in: PubMed
    12. Sellars EA, Bosanko KA, Lepard T, Garnica A, Schaefer GB. A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. Semin Pediatr Neurol. 2014 Jun; 21(2):84-7. PMID: 25149931.
      View in: PubMed
    13. Schaefer GB, Mendelsohn NJ. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med. 2013 May; 15(5):399-407. PMID: 23519317.
      View in: PubMed
    14. Schaefer, G.B., Mendelsohn, N.J. Clinical Genetics Evaluation in Identifying the Etiology of Autism Spectrum Disorders - Guideline Update. 2013; 15 (5):399-407.
    15. Deacon, B.S., Lowery, R.S., Phillips, P.H., Schaefer, G.B. Congenital Ocular Motor Apraxia, the NPHP1 gene, and Surveillance for Nephronopthisis. 2013.
    16. Clemens, P., Escolar, D.M., Leshner, R.T., Laforet, P., Pestronk, A., Wasserstein, M., Van der Ploeg, A., Rosenbloom, B., Culper, E., Mengel, E., Hopkin, R., Casey, R., Charrow, J., Sillence, D., Lemieux, B., Sims, K., Scott, C.R., Durieu, I., Furby, A., Zagnoli, F., Barohn, R., Nations, S., Pyeritz, R., Edgar, T., Barship, B., Olsen, M., Tita, J., Schaefer, G.B., Aleck, K. Cardiovascular Abnormalities in Late-onset Pompe Disease and Response to Enzyme Replacement Therapy. Genet. Med. 2011; 13(7):625-631.
    17. Schaefer GB, Starr L, Pickering D, Skar G, Dehaai K, Sanger WG. Array comparative genomic hybridization findings in a cohort referred for an autism evaluation. J Child Neurol. 2010 Dec; 25(12):1498-503. PMID: 20729506.
      View in: PubMed
    18. Schaefer, GB. Letter to the Editor Re: ACMG Practice Guidelines and ACMG Standards and Guidelines, Genetics in Medicine. Genetics in Med. 2010; 12(7):446 - 463 and 463 - 470.
    19. Sannmann, JN, Bishay, DL, Starr, LJ, Bell, CA, Pickering, DL, Stevens, JM, Kahler, SG, Schaefer, GB, Sangar, WG. Characterization of Six Patients with MECP2 Duplications: Novel Insight into the Impact Size and Genetics Complexity on Phenotype. J Child Neurology. 2010.
    20. Schaefer, GB; Starr L; Pickering D; Skar, G; DeHaai, K; Sanger, WG. Array CGH Findings in a Cohort Referred for an Autism Evaluation. J. Child Neurol. 2010; 25(12):1498 - 1503.
    21. Johnston, JJ, Sapp, JC, Turner, JT, Amor, D, Aftimos, S, Kyrieckos, AA, Bocian, M, Bodurtha, JN, Cox, GF, Curry, CJ, Day, R, Donnai, D, Field, M, Fujowara, I, Gabbett, M, Gal, M, Graham, JM, Hedera, P, Hennekam, RCM, Hersh, JH, Hopkins, RJ, Jabs, EW, Kayserili, H, Kidd, AMJ, Kimonis, V, Linn, AE, Lynch, SA, Maisenbacher, M, Mansour, S, McGaughan, J, Laksmi, M, Murphy, H, Raygada, M, Robin, NH, Rope, AF, Rosenbaum, KN, Schaefer, GB, Shealy, A, Smith, W, Soller, M, Stalker, HJ, Steiner, B, Stephan, MJ, Tilstra, D, Tomkins, S, Trapane, P, Tsai, A, Van Allen, MI, Vasudevan, PC, Zabel, B, Zunich, J, Black, GCM, Biesecker, LG. Molecular Analysis Expands the Spectrum of Phenotypes Associated with GL13 Mutations. Hum Mut. 2010; 31:1142 - 1154.
    22. Bodensteiner, J.B., Ellis, C.R., Schaefer, G.B. Current Management in Child Neurology. Mental Retardation. 2009; 46.
    23. Schaefer GB. Current Mangement in Child Neurology. Mental Retardation. 2009; 46.
    24. Houfek JF, Atwood JR, Wolfe RM, Agrawal S, Reiser GM, Schaefer GB, Rennard SI. Knowledge and beliefs about genetics and smoking among visitors and staff at a health care facility. Pub Health Nursing. 2008; 25(1):77 - 87.
    25. Schaefer GB, Mendelsohn NJ. Response to letter by Chodirker and Chudley. Genetics in Medicine. 2008; 10(11):845 - .
    26. Slavotinek AM, Moshrefi A, Davis R, Leeth E, Schaeffer GB, Burchard GE, Shaw GM, James B, Ptacek L, Pennacchio LA. Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. 2006; 14(9):999 - 1008.
    27. Kaye CI, Accurso F, La Franchi S, Lane PA, Northrup H, Pang S, Schaefer GB. Introduction to the newborn screening fact sheets. 2006; 118(3):1304 - 1312.
    28. Waggoner DJ, Raca G, Welch K, Dempsey M, Anderes E, Ostrovnaya I, Alkhateeb A, Kamimura J, Matsumoto N, Schaeffer GB, Martin CL, Das S. NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 2005; 7(8):524 - 533.
    29. Bodensteiner, JB, Elllis, C, Schaefer GB. Current Management in Child Neurology. Mental Retardation. 2005; 46.
    30. Anderson, R, Buehler, BA, Schaefer GB. Sotos Syndrome : A Handbook for Families. University of Nebraska Press. 2005; 64.
    31. Schaefer GB, Dunston, G. M. Multicultural Medicine and Health Care Disparities. Health Care Disparities in Medical Genetics. 2005; 28.
    32. Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, Collins A, Davies S, Faravelli F, Firth H, Garrett C, Hughes H, Kerr B, Liebelt J, Reardon W, Schaefer GB, Splitt M, Temple IK, Waggoner D, Weaver DD, Wilson L, Cole T, Cormier-Daire V, Irrthum A, Rahman N. Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. 2005; 42(4):307 - 313.
    33. Ball LJ, Sullivan MD, Dulany S, Stading K, Schaefer GB. Speech-language characteristics of children with Sotos syndrome. 2005; 136A(4):363 - 367.
    34. Schaefer GB, Buehler, BA. Case Management in Life-Care Planning of Pediatric Patients. Life Care Planning for Children with Genetic Disorders. 2004; 32.
    35. Segal DG, Pescovitz OH, Schaefer GB, DiMeglio LA. Craniofacial and acral growth responses in growth hormone-deficient children treated with growth hormone. 2004; 144(4):437 - 443.
    36. Bodensteiner, JB, Ellis, C, Schaefer GB. Current Management in Child Neurology. Mental Retardation. 2002; 44.
    37. Paulman, P, Schaefer GB. Textbook of Family Practice. Clinical Genetics. 2001; 51.
    38. Schaefer GB. Clinical genetics in pediatric physical therapy practice? The future. 2001; 13(4):182 - 184.
    39. Cauble MS, Mack-Shipman L, Schaefer GB, Balakrishnan S, Larsen JL. Idiopathic hypothalamic dysfunction with precocious puberty and adipsic hypernatremia first presenting in adolescence. 2001; 14(8):1163 - 1167.
    40. Anderson, R, Buehler, BA, Schaefer GB. Sotos Syndrome : A Handbook for Families. University of Nebraska Press. 2000; 59.
    41. Schaefer G, Akita RW, Sliwkowski MX. A discrete three-amino acid segment (LVI) at the C-terminal end of kinase-impaired ErbB3 is required for transactivation of ErbB2. 1999; 274(2):859 - 866.
    42. Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). 1999; 103(3):546 - 550.
    43. Olney AH, Schaefer GB. Turner syndrome. 1998; 77(10):812 - .
    44. Smith SD, Kimberling WJ, Schaefer GB, Horton MB, Tinley ST. Medical genetic evaluation for the etiology of hearing loss in children. 1998; 31(5):371 - 388.
    45. Kumar S, Kimberling WJ, Weston MD, Schaefer BG, Berg MA, Marres HA, Cremers CW. Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. 1998; 11(6):443 - 449.
    46. Schaefer GB, Olney AH, Kolodziej P. Oculo-auriculo-vertebral spectrum. 1998; 77(1):17 - 18.
    47. Schaefer GB, Bodensteiner JB, Thompson JN, Kimberling WJ, Craft JM. Volumetric neuroimaging in Usher syndrome: evidence of global involvement. 1998; 79(1):1 - 4.
    48. Schaefer GB, Kolodziej P, Olney AH. Oto-palatal-digital syndromes. 1998; 77(8):586 - 587.
    49. Pelletier, S, Schaefer GB, Young, M. A Guidebook for Understanding and Educating Health Related Disorders in Children and Adolescents. A Compilation of 96 Rare and Common Disorders. Pierre Robin Sequence. 1998; 74.
    50. Rao VH, Buehler BA, Schaefer GB. Accelerated linear growth and advanced bone age in Sotos syndrome is not associated with abnormalities of collagen metabolism. 1998; 31(4):241 - 249.
    51. Brown WT, Wisniewski KE, Sudhalter V, Keogh M, Tsiouris J, Miezejeski C, Schaefer GB. Identical twins discordant for Sotos syndrome. 1998; 79(4):329 - 333.
    52. Schaefer GB, Olney AH, Kolodziej P. Craniofrontonasal dysplasia. 1998; 77(2):90 - .
    53. Olney AH, Schaefer GB, Kolodziej P. Kabuki syndrome. 1998; 77(9):734 - .
    54. Curry CJ, Stevenson RE, Aughton D, Byrne J, Carey JC, Cassidy S, Cunniff C, Graham JM, Jones MC, Kaback MM, Moeschler J, Schaefer GB, Schwartz S, Tarleton J, Opitz J. Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. 1997; 72(4):468 - 477.
    55. Olney AH, Kolodziej P, Schaefer GB, Buehler BA. Oral-facial-digital syndrome type I. 1997; 76(11):778 - .
    56. Bodensteiner JB, Schaefer GB. Dementia pugilistica and cavum septi pellucidi: born to box?. 1997; 24(6):361 - 365.
    57. MacDonald MR, Kolodziej P, Schaefer GB, Olney AH. Stickler syndrome. 1997; 76(10):706 - .
    58. Schaefer GB, Bodensteiner JB, Buehler BA, Lin A, Cole TR. The neuroimaging findings in Sotos syndrome. 1997; 68(4):462 - 465.
    59. MacDonald MR, Baker KS, Schaefer GB. Marshall-Stickler phenotype associated with von Willebrand disease. 1997; 68(2):121 - 126.
    60. Olney AH, Schaefer GB, Kolodziej P. Van der Woude syndrome. 1997; 76(12):852 - .
    61. Olney AH, Kolodziej P, MacDonald MR, Schaefer GB. Robin sequence. 1997; 76(9):620 - .
    62. Schaefer GB, Thompson JN, Bodensteiner JB, McConnell JM, Kimberling WJ, Gay CT, Dutton WD, Hutchings DC, Gray SB. Hypoplasia of the cerebellar vermis in neurogenetic syndromes. 1996; 39(3):382 - 385.
    63. Schaefer GB, Kleimola, C, Stenson, C, Daley, S, Farmer, P, Holladay, K. Wolf -Hirschhorn Syndrome (Deletion 4p) : A Guidebook for Families. University of Nebraska Press. 1996; 48.
    64. Reiser, G, Schaefer GB. Cancer Genetics. A Guide for Counseling Families. University of Nebraska Press. 1996; 45.
    65. Sheth RD, Schaefer GB, Keller GM, Hobbs GR, Ortiz O, Bodensteiner JB. Size of the corpus callosum in cerebral palsy. 1996; 6(3):180 - 183.
    66. Reiser G, Schaefer GB. Gene testing for cancer susceptibility. 1996; 81(12):416 - 418.
    67. Hanna DL, Fisher M, Schaefer GB. Cerebral palsy--an update. Part II: Clinical presentation and early intervention. 1995; 80(7):176 - 178.
    68. Hanna DL, Fisher M, Schaefer GB. Cerebral palsy--an update. Part I: Classification and etiology. 1995; 80(7):174 - 175.
    69. Schaefer GB. Neuroendocrine and neurophysiologic changes of adolescence. 1995; 32(2):95 - 98.
    70. Bodensteiner JB, Schaefer GB. Evaluation of the patient with idiopathic mental retardation. 1995; 7(3):361 - 370.
    71. Schaefer GB, Godfrey M. Quantitation of fibrillin immunofluorescence in fibroblast cultures in the Marfan syndrome. 1995; 47(3):144 - 149.
    72. Rao VH, Bridge JA, Neff JR, Schaefer GB, Buehler BA, Vishwanatha JK, Pollock RE, Nicolson GL, Yamamoto M, Gokaslam ZL. Expression of 72 kDa and 92 kDa type IV collagenases from human giant-cell tumor of bone. 1995; 13(6):420 - 426.
    73. Schaefer GB, Sheth RD, Bodensteiner JB. Cerebral dysgenesis. An overview. 1994; 12(4):773 - 788.
    74. Muenke M, Gurrieri F, Bay C, Yi DH, Collins AL, Johnson VP, Hennekam RC, Schaefer GB, Weik L, Lubinsky MS. Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. 1994; 91(17):8102 - 8106.
    75. Schaefer GB, Bodensteiner JB, Thompson JN. Subtle anomalies of the septum pellucidum and neurodevelopmental deficits. 1994; 36(6):554 - 559.
    76. Schaefer GJ. Drug-induced alteration of psychotic behavior: who benefits?. 1994; 9(1):43 - 68.
    77. Schaefer GB, Rosenbloom AL, Guevara-Aguirre J, Campbell EA, Ullrich F, Patil K, Frias JL. Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome. 1994; 31(8):635 - 639.
    78. Langer LO, Schaefer GB, Wadsworth DT. Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type. 1993; 47(5):772 - 781.
    79. Coulter CL, Leech RW, Schaefer GB, Scheithauer BW, Brumback RA. Midline cerebral dysgenesis, dysfunction of the hypothalamic-pituitary axis, and fetal alcohol effects. 1993; 50(7):771 - 775.
    80. Godfrey M, Nejezchleb PA, Schaefer GB, Minion DJ, Wang Y, Baxter BT. Elastin and fibrillin mRNA and protein levels in the ontogeny of normal human aorta. 1993; 29(1):61 - 69.
    81. Feingold M, Frias J, Lin AE, Schaefer GB, Horwitz M. Telediagnostic conferencing. 1993; 147(11):1196 - .
    82. Gorby GL, Schaefer GB. Effect of attachment factors (pili plus Opa) on Neisseria gonorrhoeae invasion of human fallopian tube tissue in vitro: quantitation by computerized image analysis. 1992; 13(2):93 - 108.
    83. Schaefer GB, Bodensteiner JB. Evaluation of the child with idiopathic mental retardation. 1992; 39(4):929 - 943.
    84. Schaefer GB, Mathy-Laikko P, Bodensteiner JB. Neurogenetic aspects of communication disorders. 1992; 2(4):9 - 19.
    85. Coulter CL, Leech RW, Brumback RA, Schaefer GB. Cerebral abnormalities in thanatophoric dysplasia. 1991; 7(1):21 - 26.
    86. Thurnau GR, Stein SA, Schaefer GB, Morgan MA, Wall JF, Rennert OM. Management and outcome of two pregnancies in a woman with craniodiaphyseal dysplasia. 1991; 8(1):56 - 61.
    87. Schaefer GB, Bodensteiner JB, Thompson JN, Wilson DA. Clinical and morphometric analysis of the hypoplastic corpus callosum. 1991; 48(9):933 - 936.
    88. Schaefer GB, Domek DB, Morgan MA, Muneer RS, Johnson SF. Tetrasomy of the short arm of chromosome 9: prenatal diagnosis and further delineation of the phenotype. 1991; 38(4):612 - 615.
    89. Schaefer GJ, Michael RP. Interactions of naloxone with morphine, amphetamine and phencyclidine on fixed interval responding for intracranial self-stimulation in rats. 1990; 102(2):263 - 268.
    90. Marks WA, Brumback RA, Schaefer GB, Pendleton BD, Farris BK, Culbertson JL. Acidophil stem-cell pituitary adenoma in a prepubescent female. Case report. 1989; 70(2):266 - 270.
    91. Schaefer GJ, Michael RP. Interactions of diazepam and pentobarbital with RO 15-4513 on intracranial self-stimulation discrimination behavior in rats. 1989; 34(1):23 - 27.
    92. Blackett PR, Coffman MA, Schaefer GB, Rennert OM. Dominantly inherited childhood gigantism resembling Sotos' syndrome. 1989; 297(3):181 - 185.
    93. Schaefer GJ, Michael RP. Interactions between RO 15-4513 and ethanol on brain self-stimulation and locomotor activity in rats. 1989; 34(4):785 - 790.
    94. Lutz R, Bodensteiner J, Schaefer B, Gay C. X-linked olivopontocerebellar atrophy. 1989; 35(6):417 - 422.
    95. Leech RW, Bowlby LS, Brumback RA, Schaefer GB. Agnathia, holoprosencephaly, and situs inversus: report of a case. 1988; 29(3):483 - 490.
    96. Thompson JN, Schaefer GB, Conley MC, Mascie-Taylor CG. Achondroplasia and parental age. 1986; 314(8):521 - 522.
    97. Schaefer B, Stein S, Oshman D, Rennert O, Thurnau G, Wall J, Bodensteiner J, Brown O. Dominantly inherited craniodiaphyseal dysplasia: a new craniotubular dysplasia. 1986; 30(5):381 - 391.
    98. Tenkku, L.E., Mengel, M.B., Rudeen, P.K., Schaefer, GB, Ohlemiller, M., Everard, K., Barlet, E. Taking MRFASTC on the Road-Satellite Implementation. SAMHSA Building State Systems Conference.
    99. Starr, L.J., Lin, A., Hammel, J.M., Carter, A.C., Sanmann, J.N., Schaefer, G.B., Buehler, B.A., Rush, E.T., Sanger, W.G., Olney, A.H. Two New Patients with Myhre Syndrome: Further Delineation of the Phenotype and progressive Cardiac Valvulopathy. Proceedings of the David Smith Dysmorphology Annual Meeting.
    100. GB Schaefer, Buehler, BA. Case Management in Life-Care Planning of Pediatric Patients. Life Care Planning for Children with Genetic Disorders. 32.
    101. Rosenfeld, J.A., Traylor, R.N., Schaefer, GB, McPherson,E.W., Ballif, B.C., Klopocki, E., Mundlos, S., Shaffer, L., Aylsworth, A. S with the 1q21.1 Study Group: Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. European Journal of Human Genetics.
    102. Cetin, N., Mian, A., Schaefer, G.B., Lorsbach, R.B. Case Report of a Patient with Dubowitz Syndrome and Epstein-Barr Virus Related Lymphoproliferative Disease. Proceedings of the Annual meeting of the Southern Society of Pediatric Pathologists.
    103. Petitto, J.E., Perry, T.T., Schaefer, GB, Jones, S.M., Scurlock, A. Novel Chromodomain Helicase DNA Binding Protein 7 Gene Mutation Associated with CHARGE and Atypical DiGeorge Syndromes. Proceedings of the Annual Meeting of the Southern Society of Pediatric Research.
    104. Aylsworth, A.S., Lipinski, R.J., Finnell, R.H., Botto, L., Frias, J., Holmes, L.B., Keppler-Noreuli, K.M., Pober, B.R., Schaefer, G.B., Scheurle, A., Stevenson, R.E., Luben, T.J., Olshan, A.F., Herring, A.H., Sulik, K.K. Constructing a Timeline of Critical Developmental Stages for Teratogenic Causation of Human Malformations. Proceedings of the David Smith Dysmorphology Annual meeting.
    105. Bolick, J., Swearingen, C.J., Nick, T.G., Schaefer, G.B. Arkansas Newborn Screening Long-Term Follow-up Cohort Study. Proceedings of the Newborn and Childhood Screening Symposium.
    106. Schaefer, GB, Buehler, BA. Case Management in Life-Care Planning of Pediatric Patients. Life Care Planning for Children with Genetic Disorders. 25.
    107. Teague-Ross, T., Lewis, S., Hall, W., Schaefer, GB. Seeing is Believing: Telemedicine Improves Access to Genetics Consults in a Rural State. Proceedings of the 16th Annual International Meeting and Exposition of the american Telemedicine Association.
    108. Schaefer, G.B., Swearingen, C.J., Moore, T., Bolick, J. Arkansas Newborn Screening Long-Term Follow-up Database Study. Proceedings of the Joint Meeting of the Newborn Screening and Genetic testing Symposium and the International Society for Neonatal Screening. 48-49.
    109. Burnside, R.D., Spudich, L., Rush, B., Kubendran, S., Schaefer, G.B. Complex Chromosome Rearrangement Identified by Chromosome Analysis and FISH Subsequent to SNP Array Analysis. Proceedings of the Annual Meeting of the Association of Genetic Technologists.
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