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Staff Collaborate Conference Room

Donald G. Basel, MD

DonaldBasel_Academic Profile

Donald G. Basel, MD

Section Chief and Associate Professor, Pediatrics (Genetics); Associate Director, Undiagnosed & Rare Diseases, Genomic Sciences and Precision Medicine Center; Medical Director, Genetics Center, Children’s Wisconsin; Co-program Director, Neurofibromatosis and RASopathy, Children's Wisconsin

Locations

  • Children's Wisconsin

Biography

Dr. Basel considers himself very fortunate to be able to do what he does. Not only does he get to work in a field that he is passionate about, but he is afforded the opportunity to meet people who have been searching for answers, which he can frequently provide, to help them understand why they have the health concerns that they do.

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Research Experience

  • Abnormalities, Multiple
  • Aneurysm, Dissecting
  • Bone Diseases, Developmental
  • Cafe-au-Lait Spots
  • Diagnosis, Differential
  • Ehlers-Danlos Syndrome
  • Exome
  • Fibrillin-1
  • Genetic Testing
  • Humans
  • Loeys-Dietz Syndrome
  • Marfan Syndrome

Clinical Expertise

  • Achondroplasia
  • Cafe-au-Lait Spots
  • Ehlers-Danlos Syndrome
  • Hereditary Disorders of Connective Tissue
  • LEOPARD Syndrome
  • Loeys-Dietz Syndrome
  • Marfan Syndrome
  • Neurofibroma
  • Neurofibroma, Plexiform
  • Neurofibromatosis 1
  • Neurofibromatosis 2
  • Noonan Syndrome

Leadership Positions

  • Associate Director: Undiagnosed and Rare Disease Program - GSPMC
  • Co-Director: Neurofibromatosis & RASopathy Center
  • Program Director: Medical Genetics Residency Program

Publications

  • GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

    (Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM, Undiagnosed Diseases Network, Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM Jr, Kini U, Mackay JP, Pierson TM.) Genet Med. 2020 May;22(5):878-888 PMID: 31949314 01/18/2020

  • Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

    (Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM, Undiagnosed Diseases Network, Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM Jr, Kini U, Mackay JP, Pierson TM.) Genet Med. 2020 Apr;22(4):822 PMID: 32047287 02/13/2020

  • Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism.

    (Gupta A, Dsouza NR, Zarate YA, Lombardo R, Hopkin R, Linehan AR, Simpson J, McCarrier J, Agre KE, Gavrilova RH, Stephens MC, Grothe RM, Monaghan KG, Xie Y, Basel D, Urrutia RA, Cole CR, Klee EW, Zimmermann MT.) Eur J Med Genet. 2020 Apr;63(4):103817 PMID: 31778854 SCOPUS ID: 2-s2.0-85076241133 11/30/2019

  • Undiagnosed and Rare Diseases in Perinatal Medicine: Lessons in Context and Cognitive Diagnostic Error.

    (Bordini BJ, Kliegman RM, Basel D, Nocton JJ.) Clin Perinatol. 2020 Mar;47(1):1-14 PMID: 32000918 SCOPUS ID: 2-s2.0-85076855404 02/01/2020

  • Dysmorphology in a Genomic Era.

    (Basel D.) Clin Perinatol. 2020 Mar;47(1):15-23 PMID: 32000922 02/01/2020

  • Mitochondrial DNA Depletion Syndromes.

    (Basel D.) Clin Perinatol. 2020 Mar;47(1):123-141 PMID: 32000920 02/01/2020

  • Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

    (Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM.) Hum Mutat. 2020 Jan;41(1):299-315 PMID: 31595648 PMCID: PMC6973139 10/09/2019

  • Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.

    (Okur V, Watschinger K, Niyazov D, McCarrier J, Basel D, Hermann M, Werner ER, Chung WK.) Hum Genet. 2019 Dec;138(11-12):1259-1266 PMID: 31555905 09/27/2019

  • Hemophagocytic lymphohistiocytosis mimicking neonatal hemochromatosis.

    (Broglie L, Vitola B, Thakar MS, Basel D, Szabo S, Agni R, Talano JA.) Pediatr Hematol Oncol. 2019 Oct;36(7):451-456 PMID: 31424295 SCOPUS ID: 2-s2.0-85071390624 08/20/2019

  • Keeping a Flexible Differential Diagnosis: an Exercise in Clinical Reasoning.

    (Bergl PA, Manesh R, Basel D, Olson APJ.) J Gen Intern Med. 2019 06;34(6):1063-1068 PMID: 30847831 PMCID: PMC6544697 SCOPUS ID: 2-s2.0-85062714443 03/09/2019

  • Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.

    (Helbling DC, Mendoza D, McCarrier J, Vanden Avond MA, Harmelink MM, Barkhaus PE, Basel D, Lawlor MW.) J Neuropathol Exp Neurol. 2019 03 01;78(3):283-287 PMID: 30715496 PMCID: PMC6380315 SCOPUS ID: 2-s2.0-85063882669 02/05/2019

  • DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

    (Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J, SGP Consortium, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP.) Am J Hum Genet. 2018 12 06;103(6):1038-1044 PMID: 30503519 PMCID: PMC6288413 12/07/2018

Publications of Donald Basel MD from the Faculty Collaboration Database