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Donald Basel MD

Donald Basel MD profile photo picture

Chief, Associate Professor

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

Member of the Genomic Sciences and Precision Medicine Center (GSPMC)


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 (54)

  • 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 09 05;396(10252):684-692 PMID: 32891212 09/07/2020    
  • Liver failure and x-linked immunodeficiency type 47. (Gumm AJ, Basel DG, Thakrar P, Suchi M, Telega G) Pediatr Transplant 2020 Aug 13:e13808 PMID: 32790950 SCOPUS ID: 2-s2.0-85089391265 08/14/2020    
  • Compound heterozygous splicing CDON variants result in isolated ocular coloboma. (Reis LM, Basel D, McCarrier J, Weinberg DV, Semina EV) Clin Genet 2020 Jul 29 PMID: 32729136 SCOPUS ID: 2-s2.0-85089451171 07/31/2020       1 Citation
  • 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    
  • 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 03;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 03;47(1):15-23 PMID: 32000922 02/01/2020    
  • Mitochondrial DNA Depletion Syndromes. (Basel D) Clin Perinatol 2020 03;47(1):123-141 PMID: 32000920 02/01/2020    
  • 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       2 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    
  • 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 01;41(1):299-315 PMID: 31595648 PMCID: PMC6973139 10/09/2019       9 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 09/27/2019       2 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 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       2 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 12 06;103(6):1038-1044 PMID: 30503519 PMCID: PMC6288413 12/07/2018       14 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 03;21(3):764-765 PMID: 30275510 10/03/2018    
  • 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 04;21(4):867-876 PMID: 30190611 PMCID: PMC6752285 09/08/2018       19 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 02;39(2):281-291 PMID: 29193635 12/02/2017       5 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 04;138(4):957-967 PMID: 29174369 SCOPUS ID: 2-s2.0-85044124722 11/28/2017       15 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       11 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 11/30/2016       9 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       5 Citations
  • Bisphosphonate therapy for osteogenesis imperfecta. (Dwan K, Phillipi CA, Steiner RD, Basel D) Cochrane Database Syst Rev 2016 Oct 19;10:CD005088 PMID: 27760454 PMCID: PMC6611487 11/02/2016       46 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 10;177:49-52 PMID: 27496265 SCOPUS ID: 2-s2.0-84997610363 08/09/2016       7 Citations
  • Pseudoarthrosis of the Ulna in Neurofibromatosis Type I. (McCoy G, Joyce J, Basel D, Siegel DH) J Pediatr 2016 10;177:330 PMID: 27453377 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       8 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 07/07/2015       47 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 08/12/2014       53 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 07/24/2014       114 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 03/29/2014    
  • 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 03/29/2014       25 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       2 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 Jul-Aug;30(4):401-8 PMID: 23278715 01/03/2013       7 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 May-Jun;30(3):379-82 PMID: 23016555 PMCID: PMC3967413 SCOPUS ID: 2-s2.0-84876923220 09/29/2012       15 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 06/18/2009       95 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 06/10/2006       28 Citations
  • Retrospective diagnosis of chondrodysplasia punctata. (Kozlowski K, Basel D, Beighton P) Australas Radiol 2006 Feb;50(1):55-8 PMID: 16499729 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 12/24/2005       1 Citation
  • 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 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 11/04/2004       27 Citations
  • Haplotype analysis enables the diagnosis of Marfan syndrome. (Basel D, Kilpatrick MW, Tsipouras P) Conn Med 2004 Jun-Jul;68(6):363-6 PMID: 15266886 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 09/17/2003       20 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 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 10/12/2001       28 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 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 11/18/2000       1 Citation
  • Tibial aplasia--VACTERL association, a new syndrome? (Basel D, Goldblatt J) Clin Dysmorphol 2000 Jul;9(3):205-8 PMID: 10955482 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 06/07/2000       209 Citations
  • Last update: 09/30/2020
    jenkins-FCD Prod-482 91ad8a360b6da540234915ea01ff80e38bfdb40a