Medical College of Wisconsin
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Donald Basel MD

Donald Basel MD profile photo picture

Chief, Professor

Institution: Medical College of Wisconsin
Department: Pediatrics
Division: Genetics

Member of the Mellowes Center for Genomic Sciences and Precision Medicine

View Curriculum Vitae

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
  • Neurofibromatoses
  • Neurofibromatosis 1
  • Neurofibromatosis 2
  • Osteochondrodysplasias
  • Osteogenesis Imperfecta
  • Phenotype
  • Prenatal Diagnosis
  • Rare Diseases
  • Syndrome
  • ras Proteins

    • Clinical Expertise

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

    • Leadership Positions

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

    • Publications (78)

  • Structural and Dynamic Analyses of Pathogenic Variants in PIK3R1 Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes. (Dsouza NR, Cottrell CE, Davies OMT, Tollefson MM, Frieden IJ, Basel D, Urrutia R, Drolet BA, Zimmermann MT) Life (Basel) 2024 Feb 23;14(3) PMID: 38541623 PMCID: PMC10971029 03/28/2024    
  • The association of pain with gait spatiotemporal parameters in children with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder. (Jeong HJ, Engel JM, Muriello M, Basel D, Slavens BA) Gait Posture 2024 Mar;109:271-276 PMID: 38368648 SCOPUS ID: 2-s2.0-85185605896 02/18/2024    
  • Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. (Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L, Genomics England Research Consortium, Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M) Am J Hum Genet 2024 Mar 07;111(3):487-508 PMID: 38325380 PMCID: PMC10940019 SCOPUS ID: 2-s2.0-85186221721 02/08/2024    
  • Methylation signatures as biomarkers for non-invasive early detection of breast cancer: A systematic review of the literature. (Gonzalez T, Nie Q, Chaudhary LN, Basel D, Reddi HV) Cancer Genet 2024 Apr;282-283:1-8 PMID: 38134587 SCOPUS ID: 2-s2.0-85180559446 12/22/2023    
  • Clinical course and therapeutic trial for a case of congenital secretory diarrhea due to novel GUCY2C variant. (Scott W, Wong IGY, Cramer J, Horton D, Basel D, Teng RJ, Muriello M, Elkadri A) Am J Med Genet A 2024 Apr;194(4):e63489 PMID: 38058249 SCOPUS ID: 2-s2.0-85178961963 12/07/2023    
  • Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial. (Savarirayan R, Wilcox WR, Harmatz P, Phillips J 3rd, Polgreen LE, Tofts L, Ozono K, Arundel P, Irving M, Bacino CA, Basel D, Bober MB, Charrow J, Mochizuki H, Kotani Y, Saal HM, Army C, Jeha G, Qi Y, Han L, Fisheleva E, Huntsman-Labed A, Day J) Lancet Child Adolesc Health 2024 Jan;8(1):40-50 PMID: 37984383 SCOPUS ID: 2-s2.0-85177047461 11/21/2023       4 Citations
  • Attaining Diagnostic Excellence: How the Structure and Function of a Rare Disease Service Contribute to Ending the Diagnostic Odyssey. (Bordini BJ, Walsh RD, Basel D, Deshmukh T) Med Clin North Am 2024 Jan;108(1):1-14 PMID: 37951644 SCOPUS ID: 2-s2.0-85166188057 11/12/2023    
  • What the pediatric endocrinologist needs to know about skeletal dysplasia, a primer. (Legare JM, Basel D) Front Pediatr 2023;11:1229666 PMID: 37675393 PMCID: PMC10477785 SCOPUS ID: 2-s2.0-85169700688 09/07/2023    
  • Pain Characteristics and Symptom Management in Children with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder. (Jeong HJ, Engel JM, Wilwert O, Muriello M, Basel D, Slavens BA) Phys Occup Ther Pediatr 2023;43(5):630-643 PMID: 36647261 SCOPUS ID: 2-s2.0-85146444446 01/18/2023       3 Citations
  • Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study. (Savarirayan R, Irving M, Harmatz P, Delgado B, Wilcox WR, Philips J, Owen N, Bacino CA, Tofts L, Charrow J, Polgreen LE, Hoover-Fong J, Arundel P, Ginebreda I, Saal HM, Basel D, Font RU, Ozono K, Bober MB, Cormier-Daire V, Le Quan Sang KH, Baujat G, Alanay Y, Rutsch F, Hoernschemeyer D, Mohnike K, Mochizuki H, Tajima A, Kotani Y, Weaver DD, White KK, Army C, Larrimore K, Gregg K, Jeha G, Milligan C, Fisheleva E, Huntsman-Labed A, Day J) Genet Med 2022 Dec;24(12):2444-2452 PMID: 36107167 SCOPUS ID: 2-s2.0-85138145646 09/16/2022       5 Citations
  • Novel Genetic Diagnoses in Septo-Optic Dysplasia. (Reis LM, Seese S, Maheshwari M, Basel D, Weik L, McCarrier J, University Of Washington Center For Mendelian Genomics, Semina EV) Genes (Basel) 2022 Jun 28;13(7) PMID: 35885948 PMCID: PMC9320703 SCOPUS ID: 2-s2.0-85133527590 07/28/2022       4 Citations
  • Rapid Exome and Genome Sequencing in the Intensive Care Unit. (Muriello M, Basel D) Crit Care Clin 2022 Apr;38(2):173-184 PMID: 35369941 SCOPUS ID: 2-s2.0-85127316826 04/05/2022       5 Citations
  • De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. (Dohrn MF, Rebelo AP, Srivastava S, Cappuccio G, Smigiel R, Malhotra A, Basel D, van de Laar I, Neuteboom RF, Aarts-Tesselaar C, Mahida S, Brunetti-Pierri N, Taft RJ, Züchner S) Neurology 2022 Mar 15;98(11):440-445 PMID: 35110381 PMCID: PMC8935442 SCOPUS ID: 2-s2.0-85126490177 02/04/2022       6 Citations
  • Cyanosis in a Previously Well Child. (Bhat MA, Plunk MR, Basel DG, Hanson SJ) Pediatr Rev 2021 Nov;42(11):619-624 PMID: 34725222 SCOPUS ID: 2-s2.0-85118603088 11/03/2021    
  • Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study. (Savarirayan R, Tofts L, Irving M, Wilcox WR, Bacino CA, Hoover-Fong J, Font RU, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kotani Y, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-González F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day JRS) Genet Med 2021 Dec;23(12):2443-2447 PMID: 34341520 PMCID: PMC8327889 SCOPUS ID: 2-s2.0-85111805112 08/04/2021       39 Citations
  • Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction. (Chi YI, Stodola TJ, De Assuncao TM, Leverence EN, Tripathi S, Dsouza NR, Mathison AJ, Basel DG, Volkman BF, Smith BC, Lomberk G, Zimmermann MT, Urrutia R) Orphanet J Rare Dis 2021 Jun 01;16(1):247 PMID: 34074320 PMCID: PMC8170813 SCOPUS ID: 2-s2.0-85107273180 06/03/2021    
  • Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance. (Durno C, Ercan AB, Bianchi V, Edwards M, Aronson M, Galati M, Atenafu EG, Abebe-Campino G, Al-Battashi A, Alharbi M, Azad VF, Baris HN, Basel D, Bedgood R, Bendel A, Ben-Shachar S, Blumenthal DT, Blundell M, Bornhorst M, Bronsema A, Cairney E, Rhode S, Caspi S, Chamdin A, Chiaravalli S, Constantini S, Crooks B, Das A, Dvir R, Farah R, Foulkes WD, Frenkel Z, Gallinger B, Gardner S, Gass D, Ghalibafian M, Gilpin C, Goldberg Y, Goudie C, Hamid SA, Hampel H, Hansford JR, Harlos C, Hijiya N, Hsu S, Kamihara J, Kebudi R, Knipstein J, Koschmann C, Kratz C, Larouche V, Lassaletta A, Lindhorst S, Ling SC, Link MP, Loret De Mola R, Luiten R, Lurye M, Maciaszek JL, MagimairajanIssai V, Maher OM, Massimino M, McGee RB, Mushtaq N, Mason G, Newmark M, Nicholas G, Nichols KE, Nicolaides T, Opocher E, Osborn M, Oshrine B, Pearlman R, Pettee D, Rapp J, Rashid M, Reddy A, Reichman L, Remke M, Robbins G, Roy S, Sabel M, Samuel D, Scheers I, Schneider KW, Sen S, Stearns D, Sumerauer D, Swallow C, Taylor L, Thomas G, Toledano H, Tomboc P, Van Damme A, Winer I, Yalon M, Yen LY, Zapotocky M, Zelcer S, Ziegler DS, Zimmermann S, Hawkins C, Malkin D, Bouffet E, Villani A, Tabori U) J Clin Oncol 2021 Sep 01;39(25):2779-2790 PMID: 33945292 PMCID: PMC8407605 SCOPUS ID: 2-s2.0-85113681135 05/05/2021       32 Citations
  • High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses. (Hammarsjö A, Pettersson M, Chitayat D, Handa A, Anderlid BM, Bartocci M, Basel D, Batkovskyte D, Beleza-Meireles A, Conner P, Eisfeldt J, Girisha KM, Chung BH, Horemuzova E, Hyodo H, Korņejeva L, Lagerstedt-Robinson K, Lin AE, Magnusson M, Moosa S, Nayak SS, Nilsson D, Ohashi H, Ohashi-Fukuda N, Stranneheim H, Taylan F, Traberg R, Voss U, Wirta V, Nordgren A, Nishimura G, Lindstrand A, Grigelioniene G) J Hum Genet 2021 Oct;66(10):995-1008 PMID: 33875766 PMCID: PMC8472897 SCOPUS ID: 2-s2.0-85104884788 04/21/2021       21 Citations
  • Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction. (Chi YI, Stodola TJ, De Assuncao TM, Leverence EN, Tripathi S, Dsouza NR, Mathison AJ, Basel DG, Volkman BF, Smith BC, Lomberk G, Zimmermann MT, Urrutia R) Orphanet J Rare Dis 2021 Feb 05;16(1):66 PMID: 33546721 PMCID: PMC7866879 SCOPUS ID: 2-s2.0-85100579633 02/07/2021       11 Citations
  • A Deep Intronic Variant Activates a Pseudoexon in the MTM1 Gene in a Family with X-Linked Myotubular Myopathy. (Fitzgerald J, Feist C, Dietz P, Moore S, Basel D) Mol Syndromol 2020 Dec;11(5-6):264-270 PMID: 33505229 PMCID: PMC7802444 SCOPUS ID: 2-s2.0-85091501383 01/29/2021       5 Citations
  • Photodynamic Therapy for Benign Cutaneous Neurofibromas Using Aminolevulinic Acid Topical Application and 633 nm Red Light Illumination. (Quirk B, Olasz E, Kumar S, Basel D, Whelan H) Photobiomodul Photomed Laser Surg 2021 Jun;39(6):411-417 PMID: 33470897 PMCID: PMC8219184 SCOPUS ID: 2-s2.0-85107910923 01/21/2021       8 Citations
  • Missense variant contribution to USP9X-female syndrome. (Jolly LA, Parnell E, Gardner AE, Corbett MA, Pérez-Jurado LA, Shaw M, Lesca G, Keegan C, Schneider MC, Griffin E, Maier F, Kiss C, Guerin A, Crosby K, Rosenbaum K, Tanpaiboon P, Whalen S, Keren B, McCarrier J, Basel D, Sadedin S, White SM, Delatycki MB, Kleefstra T, Küry S, Brusco A, Sukarova-Angelovska E, Trajkova S, Yoon S, Wood SA, Piper M, Penzes P, Gecz J) NPJ Genom Med 2020 Dec 09;5(1):53 PMID: 33298948 PMCID: PMC7725775 SCOPUS ID: 2-s2.0-85097438993 12/11/2020       18 Citations
  • Adaptive Behavior and Executive Functioning in Children with Neurofibromatosis Type 1 Using a Mixed Design. (Glad DM, Casnar CL, Yund BD, Enderle MJ, Siegel DH, Basel DG, Klein-Tasman BP) J Dev Behav Pediatr 2020;41(8):637-643 PMID: 33064400 SCOPUS ID: 2-s2.0-85093705915 10/17/2020       4 Citations
  • Café au lait spots: When and how to pursue their genetic origins. (Lalor L, Davies OMT, Basel D, Siegel DH) Clin Dermatol 2020;38(4):421-431 PMID: 32972601 SCOPUS ID: 2-s2.0-85083733535 09/26/2020       16 Citations
  • Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. (Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino CA, Hoover-Fong J, Ullot Font R, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kagami S, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-González F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day J) Lancet 2020 Sep 05;396(10252):684-692 PMID: 32891212 SCOPUS ID: 2-s2.0-85090164772 09/07/2020       85 Citations
  • Liver failure and x-linked immunodeficiency type 47. (Gumm AJ, Basel DG, Thakrar P, Suchi M, Telega G) Pediatr Transplant 2020 Dec;24(8):e13808 PMID: 32790950 SCOPUS ID: 2-s2.0-85089391265 08/14/2020       6 Citations
  • Compound heterozygous splicing CDON variants result in isolated ocular coloboma. (Reis LM, Basel D, McCarrier J, Weinberg DV, Semina EV) Clin Genet 2020 Nov;98(5):486-492 PMID: 32729136 PMCID: PMC8341436 SCOPUS ID: 2-s2.0-85089451171 07/31/2020       5 Citations
  • 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 PMCID: PMC11000750 SCOPUS ID: 2-s2.0-85079441963 02/13/2020       2 Citations
  • 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       4 Citations
  • Dysmorphology in a Genomic Era. (Basel D) Clin Perinatol 2020 Mar;47(1):15-23 PMID: 32000922 SCOPUS ID: 2-s2.0-85076853982 02/01/2020       2 Citations
  • Mitochondrial DNA Depletion Syndromes. (Basel D) Clin Perinatol 2020 Mar;47(1):123-141 PMID: 32000920 SCOPUS ID: 2-s2.0-85076866470 02/01/2020       18 Citations
  • 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 PMCID: PMC7920571 SCOPUS ID: 2-s2.0-85078297373 01/18/2020       22 Citations
  • 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       8 Citations
  • 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 SCOPUS ID: 2-s2.0-85074609550 10/09/2019       83 Citations
  • 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 SCOPUS ID: 2-s2.0-85074022538 09/27/2019       8 Citations
  • 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 PMCID: PMC10099790 SCOPUS ID: 2-s2.0-85071390624 08/20/2019       4 Citations
  • Keeping a Flexible Differential Diagnosis: an Exercise in Clinical Reasoning. (Bergl PA, Manesh R, Basel D, Olson APJ) J Gen Intern Med 2019 Jun;34(6):1063-1068 PMID: 30847831 PMCID: PMC6544697 SCOPUS ID: 2-s2.0-85062714443 03/09/2019       2 Citations
  • 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 Mar 01;78(3):283-287 PMID: 30715496 PMCID: PMC6380315 SCOPUS ID: 2-s2.0-85063882669 02/05/2019       3 Citations
  • 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 Dec 06;103(6):1038-1044 PMID: 30503519 PMCID: PMC6288413 SCOPUS ID: 2-s2.0-85058605364 12/07/2018       65 Citations
  • Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. (Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM) Genet Med 2019 Mar;21(3):764-765 PMID: 30275510 PMCID: PMC7608433 SCOPUS ID: 2-s2.0-85054366647 10/03/2018       1 Citation
  • Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. (Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM) Genet Med 2019 Apr;21(4):867-876 PMID: 30190611 PMCID: PMC6752285 SCOPUS ID: 2-s2.0-85053443613 09/08/2018       62 Citations
  • Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier. (Peterson JF, Geddes GC, Basel DG, Schippman D, Grignon JW Jr, vanTuinen P, Kappes UP) J Pediatr Genet 2018 Mar;7(1):35-39 PMID: 29441220 PMCID: PMC5809171 02/15/2018    
  • A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33). (Peterson JF, Basel DG, Bick DP, Chirempes B, Lorier RB, Zemlicka N, Grignon JW Jr, Weik L, Kappes U) J Pediatr Genet 2018 Mar;7(1):23-28 PMID: 29441218 PMCID: PMC5809172 02/15/2018    
  • Inactivation of AMMECR1 is associated with growth, bone, and heart alterations. (Moysés-Oliveira M, Giannuzzi G, Fish RJ, Rosenfeld JA, Petit F, Soares MF, Kulikowski LD, Di-Battista A, Zamariolli M, Xia F, Liehr T, Kosyakova N, Carvalheira G, Parker M, Seaby EG, Ennis S, Gilbert RD, Hagelstrom RT, Cremona ML, Li WL, Malhotra A, Chandrasekhar A, Perry DL, Taft RJ, McCarrier J, Basel DG, Andrieux J, Stumpp T, Antunes F, Pereira GJ, Neerman-Arbez M, Meloni VA, Drummond-Borg M, Melaragno MI, Reymond A) Hum Mutat 2018 Feb;39(2):281-291 PMID: 29193635 SCOPUS ID: 2-s2.0-85038010872 12/02/2017       13 Citations
  • Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics. (Siegel DH, Cottrell CE, Streicher JL, Schilter KF, Basel DG, Baselga E, Burrows PE, Ciliberto HM, Vigh-Conrad KA, Eichenfield LF, Holland KE, Hogeling M, Jensen JN, Kelly ME, Kim W, King DM, McCuaig C, Mueller KA, Pope E, Powell J, Price H, Steiner JE, Frieden IJ, Tollefson MM, Drolet BA) J Invest Dermatol 2018 Apr;138(4):957-967 PMID: 29174369 SCOPUS ID: 2-s2.0-85044124722 11/28/2017       40 Citations
  • Genetic Testing Protocol Reduces Costs and Increases Rate of Genetic Diagnosis in Infants with Congenital Heart Disease. (Geddes GC, Basel D, Frommelt P, Kinney A, Earing M) Pediatr Cardiol 2017 Oct;38(7):1465-1470 PMID: 28725922 PMCID: PMC5628185 SCOPUS ID: 2-s2.0-85025073557 07/21/2017       27 Citations
  • Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence. (Brar R, Basel DG, Bick DP, Weik L, vanTuinen P, Peterson JF) J Assoc Genet Technol 2017;43(2):56-58 PMID: 28511170 05/17/2017    
  • Ending a Diagnostic Odyssey: Family Education, Counseling, and Response to Eventual Diagnosis. (Basel D, McCarrier J) Pediatr Clin North Am 2017 Feb;64(1):265-272 PMID: 27894449 SCOPUS ID: 2-s2.0-84998891570 11/30/2016       29 Citations
  • How Doctors Think: Common Diagnostic Errors in Clinical Judgment-Lessons from an Undiagnosed and Rare Disease Program. (Kliegman RM, Bordini BJ, Basel D, Nocton JJ) Pediatr Clin North Am 2017 Feb;64(1):1-15 PMID: 27894438 SCOPUS ID: 2-s2.0-84999036765 11/30/2016       15 Citations
  • Bisphosphonate therapy for osteogenesis imperfecta. (Dwan K, Phillipi CA, Steiner RD, Basel D) Cochrane Database Syst Rev 2016 Oct 19;10(10):CD005088 PMID: 27760454 PMCID: PMC6611487 SCOPUS ID: 2-s2.0-84991465857 11/02/2016       81 Citations
  • Benign Joint Hypermobility Minimally Impacts Autonomic Abnormalities in Pediatric Subjects with Chronic Functional Pain Disorders. (Chelimsky G, Kovacic K, Simpson P, Nugent M, Basel D, Banda J, Chelimsky T) J Pediatr 2016 Oct;177:49-52 PMID: 27496265 SCOPUS ID: 2-s2.0-84997610363 08/09/2016       13 Citations
  • Pseudoarthrosis of the Ulna in Neurofibromatosis Type I. (McCoy G, Joyce J, Basel D, Siegel DH) J Pediatr 2016 Oct;177:330 PMID: 27453377 SCOPUS ID: 2-s2.0-84979231085 07/28/2016    
  • Bacteremia in Patients with Heterotaxy: A Review and Implications for Management. (Loomba RS, Geddes GC, Basel D, Benson DW, Leuthner SR, Hehir DA, Ghanayem N, Shillingford AJ) Congenit Heart Dis 2016 Dec;11(6):537-547 PMID: 27425254 SCOPUS ID: 2-s2.0-84994182339 07/19/2016       17 Citations
  • Tributes. (Horan FT, Hall DN, Mannion S, Basel D) S Afr Med J 2016 May 23;106(6 Suppl 1):S27-8 PMID: 27245519 06/02/2016    
  • Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies. (Alamillo CL, Powis Z, Farwell K, Shahmirzadi L, Weltmer EC, Turocy J, Lowe T, Kobelka C, Chen E, Basel D, Ashkinadze E, D'Augelli L, Chao E, Tang S) Prenat Diagn 2015 Nov;35(11):1073-8 PMID: 26147564 SCOPUS ID: 2-s2.0-84945477018 07/07/2015       81 Citations
  • Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. (Aldinger KA, Mosca SJ, Tétreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J, University of Washington Center for Mendelian Genomics, Care4Rare Canada, Parboosingh JS, Innes AM, Doherty D) Am J Hum Genet 2014 Aug 07;95(2):227-34 PMID: 25105227 PMCID: PMC4129402 SCOPUS ID: 2-s2.0-84905816192 08/12/2014       85 Citations
  • Bisphosphonate therapy for osteogenesis imperfecta. (Dwan K, Phillipi CA, Steiner RD, Basel D) Cochrane Database Syst Rev 2014 Jul 23(7):CD005088 PMID: 25054949 SCOPUS ID: 2-s2.0-84908435160 07/24/2014       183 Citations
  • Early therapy-related myeloid sarcoma and deletion of 9q22.32 to q31.1. (Brickler MM, Basel DG, Gheorghe G, Margolis DM, Kelly ME, Ehrhardt MJ) Pediatr Blood Cancer 2014 Sep;61(9):1701-3 PMID: 24668947 SCOPUS ID: 2-s2.0-84904420991 03/29/2014       2 Citations
  • Direct crosstalk between cancer and osteoblast lineage cells fuels metastatic growth in bone via auto-amplification of IL-6 and RANKL signaling pathways. (Zheng Y, Chow SO, Boernert K, Basel D, Mikuscheva A, Kim S, Fong-Yee C, Trivedi T, Buttgereit F, Sutherland RL, Dunstan CR, Zhou H, Seibel MJ) J Bone Miner Res 2014 Sep;29(9):1938-49 PMID: 24676805 SCOPUS ID: 2-s2.0-84905845850 03/29/2014       35 Citations
  • Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities. (Bellamkonda-Athmaram V, Sulman CG, Basel DG, Southern J, Konduri GG, Basir MA) J Perinatol 2014 Apr;34(4):326-8 PMID: 24675018 SCOPUS ID: 2-s2.0-84897442075 03/29/2014       4 Citations
  • Adaptive behavior in young children with neurofibromatosis type 1. (Klein-Tasman BP, Colon AM, Brei N, van der Fluit F, Casnar CL, Janke KM, Basel D, Siegel DH, Walker JA) Int J Pediatr 2013;2013:690432 PMID: 24348581 PMCID: PMC3852810 12/19/2013    
  • PHENOTYPIC VARIABILITY IN INDIVIDUALS WITH TYPE V OSTEOGENESIS IMPERFECTA WITH IDENTICAL IFITM5 MUTATIONS. (Fitzgerald J, Holden P, Wright H, Wilmot B, Hata A, Steiner RD, Basel D) J Rare Disord 2013 Dec;1(2):37-42 PMID: 28824928 PMCID: PMC5560441 12/01/2013    
  • A review of next-generation genetic testing for the dermatologist. (Kwon EK, Basel D, Siegel D, Martin KL) Pediatr Dermatol 2013;30(4):401-8 PMID: 23278715 SCOPUS ID: 2-s2.0-84879844678 01/03/2013       9 Citations
  • Association of Piebaldism, multiple café-au-lait macules, and intertriginous freckling: clinical evidence of a common pathway between KIT and sprouty-related, ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1). (Chiu YE, Dugan S, Basel D, Siegel DH) Pediatr Dermatol 2013;30(3):379-82 PMID: 23016555 PMCID: PMC3967413 SCOPUS ID: 2-s2.0-84876923220 09/29/2012       20 Citations
  • Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. (Basel D, Steiner RD) Genet Med 2009 Jun;11(6):375-85 PMID: 19533842 SCOPUS ID: 2-s2.0-69549096354 06/18/2009       128 Citations
  • The expanding panorama of split hand foot malformation. (Basel D, Kilpatrick MW, Tsipouras P) Am J Med Genet A 2006 Jul 01;140(13):1359-65 PMID: 16763964 SCOPUS ID: 2-s2.0-33745615451 06/10/2006       30 Citations
  • Retrospective diagnosis of chondrodysplasia punctata. (Kozlowski K, Basel D, Beighton P) Australas Radiol 2006 Feb;50(1):55-8 PMID: 16499729 SCOPUS ID: 2-s2.0-33645997670 02/28/2006    
  • Prenatal sonographic diagnosis of Grebe syndrome. (Cordero DR, Goldberg Y, Basel D, Kilpatrick MW, Klugman S, Tsipouras P, Gross S) J Ultrasound Med 2006 Jan;25(1):115-8; quiz 119-21 PMID: 16371562 SCOPUS ID: 2-s2.0-30144439373 12/24/2005       2 Citations
  • A newly recognized syndrome of cutis aplasia, lipomatous footpads, microcephaly, hypotelorism, and, variably, single maxillary central incisor, and holoprosencephaly. (Basel D, Sklar D, Viljoen D) Am J Med Genet A 2005 Aug 01;136A(4):354-6 PMID: 15971262 SCOPUS ID: 2-s2.0-23044507713 06/23/2005       1 Citation
  • Chondrodysplasia punctata in siblings and maternal lupus erythematosus. (Kozlowski K, Basel D, Beighton P) Clin Genet 2004 Dec;66(6):545-9 PMID: 15521983 SCOPUS ID: 2-s2.0-9444264255 11/04/2004       32 Citations
  • Haplotype analysis enables the diagnosis of Marfan syndrome. (Basel D, Kilpatrick MW, Tsipouras P) Conn Med 2004;68(6):363-6 PMID: 15266886 SCOPUS ID: 2-s2.0-2942748373 07/23/2004       2 Citations
  • Split hand foot malformation is associated with a reduced level of Dactylin gene expression. (Basel D, DePaepe A, Kilpatrick MW, Tsipouras P) Clin Genet 2003 Oct;64(4):350-4 PMID: 12974740 SCOPUS ID: 2-s2.0-0141921323 09/17/2003       22 Citations
  • Developmental absence of the premolar teeth: dental management. (Stephen LX, Basel D, Beighton PH) Int J Paediatr Dent 2002 May;12(3):219-22 PMID: 12028315 SCOPUS ID: 2-s2.0-0036559245 05/25/2002       1 Citation
  • Distal limb malformations: underlying mechanisms and clinical associations. (Sifakis S, Basel D, Ianakiev P, Kilpatrick M, Tsipouras P) Clin Genet 2001 Sep;60(3):165-72 PMID: 11595015 SCOPUS ID: 2-s2.0-0034775067 10/12/2001       33 Citations
  • Help! Unusual X-ray appearances of a congenital bone disease of unknown aetiology. (Basel D, Beighton P, Kozlowski K) Pediatr Radiol 2001 Mar;31(3):212 PMID: 11297091 SCOPUS ID: 2-s2.0-0035094520 04/12/2001       2 Citations
  • The Gordon syndrome revisited. (Basel D, Sobey G, Gardner J, Beighton P) S Afr Med J 2000 Sep;90(9):864-7 PMID: 11081133 SCOPUS ID: 2-s2.0-0033810189 11/18/2000       2 Citations
  • Tibial aplasia--VACTERL association, a new syndrome? (Basel D, Goldblatt J) Clin Dysmorphol 2000 Jul;9(3):205-8 PMID: 10955482 SCOPUS ID: 2-s2.0-0033945046 08/24/2000       10 Citations
  • Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. (Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P) Am J Hum Genet 2000 Jul;67(1):59-66 PMID: 10839977 PMCID: PMC1287102 SCOPUS ID: 2-s2.0-0033926317 06/07/2000       231 Citations
    • Last update: 05/15/2024