Faculty Collaboration Database

1. BASEL D., Sobey, G., Gardner, J., Beighton, P. The Gordon syndrome revisited. S Afr Med J. 2000 Sep;90(9):864-7.

2. BASEL, D., Goldblatt, J. Tibial aplasia--VACTERL association, a new syndrome? Clin Dysmorphol. 2000 Jul;9(3):205-8.

3. Ianakiev, P., Kilpatrick, M.W., Toudjarska, I., BASEL, D., Beighton, P., Tsipouras, P. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am J Hum Genet. 2000 Jul;67(1):59-66 PMCID: PMC1287102.

4. BASEL, D., Beighton, P., Kozlowski, K. Help! Unusual X-ray appearances of a congenital bone disease of unknown aetiology. Pediatr Radiol. 2001 Mar;31(3):212.

5. Sifakis, S., BASEL, D., Ianakiev, P., Kilpatrick, M., Tsipouras, P. Distal limb malformations: underlying mechanisms and clinical associations. Clin Genet. 2001 Sep;60(3):165-72.

6. Stephen, L.X., BASEL, D., Beighton, P.H. Developmental absence of the premolar teeth: dental management. Int J Paediatr Dent. 2002 May;12(3):219-22.

7. BASE,L D., DePaepe, A., Kilpatrick, M.W., Tsipouras, P. Split hand foot malformation is associated with a reduced level of Dactylin gene expression. Clin Genet. 2003 Oct;64(4):350-4.

8. Kozlowski, K., BASEL, D., Beighton, P. Chondrodysplasia punctata in siblings and maternal lupus erythematosus. Clin Genet. 2004 Dec;66(6):545-9.

9. BASEL, D., Kilpatrick, M.W., Tsipouras, P. Haplotype analysis enables the diagnosis of Marfan syndrome. Conn Med. 2004 Jun-Jul;68(6):363-6.

10. BASEL, D., Sklar, D., Viljoen, D. A newly recognized syndrome of cutis aplasia, lipomatous footpads, microcephaly, hypotelorism, and, variably, single maxillary central incisor, and holoprosencephaly. Am J Med Genet A. 2005 Aug 1;136A(4):354-6.

11. Kozlowski, K., BASEL, D., Beighton, P. Retrospective diagnosis of chondrodysplasia punctata. Australas Radiol. 2006 Feb;50(1):55-8.

12. Cordero, D.R., Goldberg, Y., BASEL, D., Kilpatrick, M.W., Klugman, S., Tsipouras, P., Gross, S. Prenatal sonographic diagnosis of Grebe syndrome. J Ultrasound Med. 2006 Jan;25(1):115-8; quiz 119-21.

13. BASEL, D., Kilpatrick, M.W., Tsipouras, P. The expanding panorama of split hand foot malformation. Am J Med Genet A. 2006 Jul 1;140(13):1359-65.

14. BASEL, D., Steiner, R.D. Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. Genet Med. 2009 Jun;11(6):375-85.

15. Chiu, Y.E., Dugan, S., BASEL, D., Siegel, D.H. 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). Pediatr Dermatol. 2013 May-Jun;30(3):379-82 PMCID: PMC3967413.

16. Kwon, E.K., BASEL, D., Siegel, D., Martin, K.L. A review of next-generation genetic testing for the dermatologist. Pediatr Dermatol. 2013 Jul-Aug;30(4):401-8.

17. Klein-Tasman, B.P., Colon, A.M., Brei, N., van der Fluit, F., Casnar, C.L., Janke, K.M., BASEL, D., Siegel, D.H., Walker, J.A. Adaptive behavior in young children with neurofibromatosis type 1. Int J Pediatr. 2013;2013:690432 PMCID: PMC3852810.

18. Fitzgerald, J., Holden, P., Wright, H., Wilmot, B., Hata, A., Steiner, R.D., BASEL,D. Phenotypic variability in individuals with Type V Osteogenesis Imperfecta with identical IFITM5 mutations. Journal of Rare Disorders 1:2, 37, 2013.

19. Fitzgerald, J., Holden, P., Wright, H., Wilmot, B., Hata, A., Steiner, R.D., Basel, D. Phenotypic variability in individuals with type V osteogenesis imperfecta with identical IFITM5 mutations. J Rare Disord. 2013 Dec;1(2):37-42. PMCID: PMC5560441

20. Bellamkonda-Athmaram, V., Sulman, C.G., BASEL, D.G., Southern, J., Konduri, G.G., Basir, M.A. Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities. J Perinatol. 2014 Apr;34(4):326-8.

21. Brickler, M.M., BASEL, D.G., Gheorghe, G., Margolis, D.M., Kelly, M.E., Ehrhardt, M.J. Early therapy-related myeloid sarcoma and deletion of 9q22.32 to q31.1. Pediatr Blood Cancer. 2014 Sep;61(9):1701-3.

22. Aldinger, K.A., Mosca, S.J., Tétreault, M., Dempsey, J.C., Ishak, G.E., Hartley, T., Phelps, I.G., Lamont, R.E., O'Day, D.R., BASEL, D., Gripp, K.W., Baker, L., Stephan, M.J., Bernier, F.P., Boycott, K.M., Majewski, J., Parboosingh, J.S., Innes, A.M., Doherty, D. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. Am J Hum Genet. 2014 Aug 7;95(2):227-34 PMCID: PMC4129402.

23. Dwan, K., Phillipi, C.A., Steiner, R.D., BASEL, D. Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev. 2014(7):CD005088.

24. Alamillo, C.L., Powis, Z., Farwell, K., Shahmirzadi, L., Weltmer, E.C., Turocy, J., Lowe, T., Kobelka, C., Chen, E., BASEL, D., Ashkinadze, E., D'Augelli, L., Chao, E.,8, Tang, S. Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies. Prenat Diagn. 2015 Jul 5. doi: 10.1002/pd.4648. [Epub ahead of print]PMID: 26147564.

25. Acharya, K. BASEL, D., Segall, H., Sampath, V. Term Newborn with Unilateral Craniofacial Defects. DOI: 10.1542/neo.17-3-e184, NeoReviews 2016;17;e184.

26. Horan, F.T., Hall, D.N., Mannion, S., BASEL, D. Tributes. S Afr Med J 2016;106(6):10986 PMID: 27245519 06/02/2016

27. Loomba, R.S., Geddes, G.C., BASEL, D., Benson, D.W., Leuthner, S.R., Hehir, D.A., Ghanayem, N., Shillingford, A.J. Bacteremia in Patients with Heterotaxy: A Review and Implications for Management. Congenit Heart Dis. 2016 Jul 18.

28. McCoy, G., Joyce, J., BASEL, D., Siegel, D.H. Pseudoarthrosis of the Ulna in Neurofibromatosis Type I. J Pediatr. 2016 Jul 22, PMID: 2745337

29. Chelimsky, G., Kovacic, K., Simpson, P., Nugent, M., BASEL, D., Banda, J., Chelimsky, T. Benign Joint Hypermobility Minimally Impacts Autonomic Abnormalities in Pediatric Subjects with Chronic Functional Pain Disorders. J Pediatr. 2016 Oct;177:49-52, PMID:27496265

30. Dwan, K., Phillipi, C.A., Steiner, R.D., BASEL, D. Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev. 2016 Oct 19;10:CD005088.

31. Kliegman, R.M., Bordini, B.J., BASEL, D., Nocton, J.J. How Doctors Think: Common Diagnostic Errors in Clinical Judgment-Lessons from an Undiagnosed and Rare Disease Program. Pediatr Clin North Am. 2017 Feb;64(1):1-15. PMID 27894438.

32. BASEL, D., McCarrier, J. Ending a Diagnostic Odyssey: Family Education, Counseling, and Response to Eventual Diagnosis. Pediatr Clin North Am. 2017 Feb;64(1):265-272. PMID 27894449

33. Brar, R., BASEL, D.G., Bick, D.P., Weik, L., vanTuinen, P., Peterson, J.F. Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence. J Assoc Genet Technol. 2017;43(2):56-58.

34. Geddes, G.C., BASEL, D., Frommelt, P., Kinney, A., Earing, M. Genetic Testing Protocol Reduces Costs and Increases Rate of Genetic Diagnosis in Infants with Congenital Heart Disease. Pediatr Cardiol. 2017 Jul 19. PMID: 28725922

35. Siegel, D.H., Cottrell, C.E., Streicher, J.L., Schilter, K.F., BASEL, D.G., Baselga, E., Burrows, P.E., Ciliberto, H.M., Vigh-Conrad, K.A., Eichenfield, L.F., Holland, K.E., Hogeling, M., Jensen, J.N., Kelly, M.E., Kim, W., King, D.M., McCuaig, C., Mueller, K.A., Pope, E., Powell, J., Price, H., Steiner, J.E., Frieden, I.J., Tollefson, M.M., Drolet, B.A. Analyzing the Genetic Spectrum of Vascular Anomalies With Overgrowth Via Cancer Genomics. J Invest Dermatol. 2017 Nov 22.

36. Moysés-Oliveira, M., Giannuzzi, G., Fish, R.J., Rosenfeld, J.A., Petit, F., Soares, M.F., Kulikowski, L.D., Di-Battista, A., Zamariolli, M., Xia, F., Liehr, T., Kosyakova, N., Carvalheira, G., Parker, M., Seaby, E.G., Ennis, S., Gilbert, R.D., Hagelstrom, R.T., Cremona, M.L., Li, W.L., Malhotra, A., Chandrasekhar, A., Perry, D.L., Taft, R.J., McCarrier, J., BASEL, D.G., Andrieux, J., Stumpp, T., Antunes, F., Pereira, G.J., Neerman-Arbez, M., Meloni, V.A., Drummond-Borg, M., Melaragno, M.I., Reymond, A. Inactivation of AMMECR1 is associated with growth, bone, and heart alterations. Hum Mutat. 2017 Nov 28.

37. Peterson JF, Geddes GC, Basel DG, Schippman D, Grignon JW Jr, vanTuinen P, Kappes UP. 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. J Pediatr Genet. 2018 Mar;7(1):35-39. PMCID: PMC5809171

38. Peterson, J.F., Geddes, G.C., BASEL, D.G., Schippman, D., Grignon, J.W. Jr., vanTuinen, P., Kappes, U.P. 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. J Pediatr Genet 2018 Mar;7(1):35-39

39. Peterson JF, Basel DG, Bick DP, Chirempes B, Lorier RB, Zemlicka N, Grignon JW Jr, Weik L, Kappes U. A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the <i>XIST</i> Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33). J Pediatr Genet. 2018 Mar;7(1):23-28. PMCID: PMC5809172

40. 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. 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. Genet Med. 2019 Apr;21(4):867-876. PMCID: PMC6752285

41. 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. 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. Genet Med. 2019 Mar;21(3):764-765. PMCID: PMC7608433

42. 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. DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. Am J Hum Genet. 2018 Dec 06;103(6):1038-1044. PMCID: PMC6288413

43. Helbling DC, Mendoza D, McCarrier J, Vanden Avond MA, Harmelink MM, Barkhaus PE, Basel D, Lawlor MW. Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy. J Neuropathol Exp Neurol. 2019 Mar 01;78(3):283-287. PMCID: PMC6380315

44. Bergl PA, Manesh R, Basel D, Olson APJ. Keeping a Flexible Differential Diagnosis: an Exercise in Clinical Reasoning. J Gen Intern Med. 2019 Jun;34(6):1063-1068. PMCID: PMC6544697

45. Broglie L, Vitola B, Thakar MS, Basel D, Szabo S, Agni R, Talano JA. Hemophagocytic lymphohistiocytosis mimicking neonatal hemochromatosis. Pediatr Hematol Oncol. 2019 Oct;36(7):451-456. PMCID: PMC10099790

46. Okur V, Watschinger K, Niyazov D, McCarrier J, Basel D, Hermann M, Werner ER, Chung WK. Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder. Hum Genet. 2019 Dec;138(11-12):1259-1266.

47. 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. Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism. Eur J Med Genet. 2020 Apr;63(4):103817.

48. 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. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Hum Mutat. 2020 Jan;41(1):299-315. PMCID: PMC6973139

49. 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. GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med. 2020 May;22(5):878-888. PMCID: PMC7920571

50. 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. Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med. 2020 Apr;22(4):822. PMCID: PMC11000750

51. Basel D. Dysmorphology in a Genomic Era. Clin Perinatol. 2020 Mar;47(1):15-23.

52. Bordini BJ, Kliegman RM, Basel D, Nocton JJ. Undiagnosed and Rare Diseases in Perinatal Medicine: Lessons in Context and Cognitive Diagnostic Error. Clin Perinatol. 2020 Mar;47(1):1-14.

53. Basel D. Mitochondrial DNA Depletion Syndromes. Clin Perinatol. 2020 Mar;47(1):123-141.

54. 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. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. Lancet. 2020 Sep 05;396(10252):684-692.

55. Gumm AJ, Basel DG, Thakrar P, Suchi M, Telega G. Liver failure and x-linked immunodeficiency type 47. Pediatr Transplant. 2020 Dec;24(8):e13808.

56. Reis LM, Basel D, McCarrier J, Weinberg DV, Semina EV. Compound heterozygous splicing CDON variants result in isolated ocular coloboma. Clin Genet. 2020 Nov;98(5):486-492. PMCID: PMC8341436

57. Glad DM, Casnar CL, Yund BD, Enderle MJ, Siegel DH, Basel DG, Klein-Tasman BP. Adaptive Behavior and Executive Functioning in Children with Neurofibromatosis Type 1 Using a Mixed Design. J Dev Behav Pediatr. 2020;41(8):637-643.

58. Lalor L, Davies OMT, Basel D, Siegel DH. Café au lait spots: When and how to pursue their genetic origins. Clin Dermatol. 2020;38(4):421-431.

59. 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. Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction. Orphanet J Rare Dis. 2021 Feb 05;16(1):66. PMCID: PMC7866879

60. Fitzgerald J, Feist C, Dietz P, Moore S, Basel D. A Deep Intronic Variant Activates a Pseudoexon in the <i>MTM1</i> Gene in a Family with X-Linked Myotubular Myopathy. Mol Syndromol. 2020 Dec;11(5-6):264-270. PMCID: PMC7802444

61. Quirk B, Olasz E, Kumar S, Basel D, Whelan H. Photodynamic Therapy for Benign Cutaneous Neurofibromas Using Aminolevulinic Acid Topical Application and 633 nm Red Light Illumination. Photobiomodul Photomed Laser Surg. 2021 Jun;39(6):411-417. PMCID: PMC8219184

62. 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. Missense variant contribution to USP9X-female syndrome. NPJ Genom Med. 2020 Dec 09;5(1):53. PMCID: PMC7725775

63. 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. Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance. J Clin Oncol. 2021 Sep 01;39(25):2779-2790. PMCID: PMC8407605

64. 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. High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses. J Hum Genet. 2021 Oct;66(10):995-1008. PMCID: PMC8472897

65. 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. Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction. Orphanet J Rare Dis. 2021 Jun 01;16(1):247. PMCID: PMC8170813

66. 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. Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study. Genet Med. 2021 Dec;23(12):2443-2447. PMCID: PMC8327889

67. Bhat MA, Plunk MR, Basel DG, Hanson SJ. Cyanosis in a Previously Well Child. Pediatr Rev. 2021 Nov;42(11):619-624.

68. 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. De Novo <i>ATP1A1</i> Variants in an Early-Onset Complex Neurodevelopmental Syndrome. Neurology. 2022 Mar 15;98(11):440-445. PMCID: PMC8935442

69. Muriello M, Basel D. Rapid Exome and Genome Sequencing in the Intensive Care Unit. Crit Care Clin. 2022 Apr;38(2):173-184.

70. Reis LM, Seese S, Maheshwari M, Basel D, Weik L, McCarrier J, University Of Washington Center For Mendelian Genomics, Semina EV. Novel Genetic Diagnoses in Septo-Optic Dysplasia. Genes (Basel). 2022 Jun 28;13(7). PMCID: PMC9320703

71. 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. Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study. Genet Med. 2022 Dec;24(12):2444-2452.

72. Jeong HJ, Engel JM, Wilwert O, Muriello M, Basel D, Slavens BA. Pain Characteristics and Symptom Management in Children with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder. Phys Occup Ther Pediatr. 2023;43(5):630-643.

73. Legare JM, Basel D. What the pediatric endocrinologist needs to know about skeletal dysplasia, a primer. Front Pediatr. 2023;11:1229666. PMCID: PMC10477785

74. Bordini BJ, Walsh RD, Basel D, Deshmukh T. Attaining Diagnostic Excellence: How the Structure and Function of a Rare Disease Service Contribute to Ending the Diagnostic Odyssey. Med Clin North Am. 2024 Jan;108(1):1-14.

75. Gonzalez T, Nie Q, Chaudhary LN, Basel D, Reddi HV. Methylation signatures as biomarkers for non-invasive early detection of breast cancer: A systematic review of the literature. Cancer Genet. 2024 Apr;282-283:1-8.

76. Scott W, Wong IGY, Cramer J, Horton D, Basel D, Teng RJ, Muriello M, Elkadri A. Clinical course and therapeutic trial for a case of congenital secretory diarrhea due to novel GUCY2C variant. Am J Med Genet A. 2024 Apr;194(4):e63489.

77. 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. Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial. Lancet Child Adolesc Health. 2024 Jan;8(1):40-50.

78. 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. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Am J Hum Genet. 2024 Mar 07;111(3):487-508. PMCID: PMC10940019

79. Dsouza NR, Cottrell CE, Davies OMT, Tollefson MM, Frieden IJ, Basel D, Urrutia R, Drolet BA, Zimmermann MT. Structural and Dynamic Analyses of Pathogenic Variants in <i>PIK3R1</i> Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes. Life (Basel). 2024 Feb 23;14(3). PMCID: PMC10971029

80. Jeong HJ, Engel JM, Muriello M, Basel D, Slavens BA. The association of pain with gait spatiotemporal parameters in children with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder. Gait Posture. 2024 Mar;109:271-276.

81. Bhalla D, Sati S, Basel D, Karody V. A novel termination site in a case of Stüve-Wiedemann syndrome: case report and review of literature. Front Pediatr. 2024;12:1341841. PMCID: PMC11018973

82. Ercan AB, Aronson M, Fernandez NR, Chang Y, Levine A, Liu ZA, Negm L, Edwards M, Bianchi V, Stengs L, Chung J, Al-Battashi A, Reschke A, Lion A, Ahmad A, Lassaletta A, Reddy AT, Al-Darraji AF, Shah AC, Van Damme A, Bendel A, Rashid A, Margol AS, Kelly BL, Pencheva B, Heald B, Lemieux-Anglin B, Crooks B, Koschmann C, Gilpin C, Porter CC, Gass D, Samuel D, Ziegler DS, Blumenthal DT, Kuo DJ, Hamideh D, Basel D, Khuong-Quang DA, Stearns D, Opocher E, Carceller F, Baris Feldman H, Toledano H, Winer I, Scheers I, Fedorakova I, Su JM, Vengoechea J, Sterba J, Knipstein J, Hansford JR, Gonzales-Santos JR, Bhatia K, Bielamowicz KJ, Minhas K, Nichols KE, Cole KA, Penney L, Hjort MA, Sabel M, Gil-da-Costa MJ, Murray MJ, Miller M, Blundell ML, Massimino M, Al-Hussaini M, Al-Jadiry MF, Comito MA, Osborn M, Link MP, Zapotocky M, Ghalibafian M, Shaheen N, Mushtaq N, Waespe N, Hijiya N, Fuentes-Bolanos N, Ahmad O, Chamdine O, Roy P, Pichurin PN, Nyman P, Pearlman R, Auer RC, Sukumaran RK, Kebudi R, Dvir R, Raphael R, Elhasid R, McGee RB, Chami R, Noss R, Tanaka R, Raskin S, Sen S, Lindhorst S, Perreault S, Caspi S, Riaz S, Constantini S, Albert S, Chaleff S, Bielack S, Chiaravalli S, Cramer SL, Roy S, Cahn S, Penna S, Hamid SA, Ghafoor T, Imam U, Larouche V, Magimairajan Issai V, Foulkes WD, Lee YY, Nathan PC, Maruvka YE, Greer MC, Durno C, Shlien A, Ertl-Wagner B, Villani A, Malkin D, Hawkins C, Bouffet E, Das A, Tabori U. Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study. Lancet Oncol. 2024 May;25(5):668-682.

83. Zerella JR, Homan CC, Arts P, Lin X, Spinelli SJ, Venugopal P, Babic M, Brautigan PJ, Truong L, Arriola-Martinez L, Moore S, Hollins R, Parker WT, Nguyen H, Kassahn KS, Branford S, Feurstein S, Larcher L, Sicre de Fontbrune F, Demirdas S, de Munnik S, Antoine-Poirel H, Brichard B, Mansour S, Gordon K, Wlodarski MW, Koppayi A, Dobbins S, Mutsaers PGNJ, Nichols KE, Oak N, DeMille D, Mao R, Crawford A, McCarrier J, Basel D, Flores-Daboub J, Drazer MW, Phillips K, Poplawski NK, Birdsey GM, Pirri D, Ostergaard P, Simons A, Godley LA, Ross DM, Hiwase DK, Soulier J, Brown AL, Carmichael CL, Scott HS, Hahn CN. Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition. Blood. 2024 Oct 24;144(17):1765-1780. PMCID: PMC11530364

84. Ahmed G, Abdelgadir Y, Abdelghani A, Simpson P, Barbeau J, Basel D, Barrios CS, Smith BA, Schilter KF, Udani R, Reddi HV, Willoughby RE. Reduction in ACE2 expression in peripheral blood mononuclear cells during COVID-19 - implications for post COVID-19 conditions. BMC Infect Dis. 2024 Jul 03;24(1):663. PMCID: PMC11221185

85. Jeong HJ, Tarima S, Nguyen A, Qashqai A, Muriello M, Basel D, Slavens BA. Lower extremity inter-joint coupling angles and variability during gait in pediatric hypermobility spectrum disorder. J Biomech. 2024 Jun;170:112151.

86. Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, Button J, Jones MC, Campo MD, Basel D, McCarrier J, Keppen LD, Royer E, Foster-Bonds R, Duenas-Roque MM, Urraca N, Bosfield K, Brown CW, Lydigsen H, Mroczkowski HJ, Ward J, Sirchia F, Giorgio E, Vaux K, Salguero HP, Lumaka A, Mubungu G, Makay P, Ngole M, Lukusa PT, Vanderver A, Muirhead K, Sherbini O, Lah MD, Anderson K, Bazalar-Montoya J, Rodriguez RS, Cornejo-Olivas M, Milla-Neyra K, Shinawi M, Magoulas P, Henry D, Gibson K, Wiafe S, Jayakar P, Salyakina D, Masser-Frye D, Serize A, Perez JE, Taylor A, Shenbagam S, Abou Tayoun A, Malhotra A, Bennett M, Rajan V, Avecilla J, Warren A, Arseneault M, Kalista T, Crawford A, Ajay SS, Perry DL, Belmont J, Taft RJ. The impact of clinical genome sequencing in a global population with suspected rare genetic disease. Am J Hum Genet. 2024 Jul 11;111(7):1271-1281. PMCID: PMC11267518

87. Singh E, Chi YI, Kopesky J, Zimmerman M, Urrutia R, Basel D, Schwoerer JS. Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotype. JIMD Rep. 2024 May;65(3):144-155. PMCID: PMC11078707

88. Gonzalez T, Tyler RC, Schilter KF, McCarrier J, Muriello M, Basel D, Reddi HV. KIF11 Variants Associated With Novel Renal System Involvement-Two Cases That Expand the Phenotypic Spectrum of Microcephaly With or Without Chorioretinopathy, Lymphedema, or Impaired Intellectual Development. Am J Med Genet A. 2025 Feb;197(2):e63903.

89. Kinney A, Dalton SA, McCarrier J, Basel D. Single center experience developing sustainable genetics clinical care: a model to address workforce challenges in medical genetics. Curr Opin Pediatr. 2024 Dec 01;36(6):605-611. PMCID: PMC11540278

1. Steiner, R.D., Adsit, J., BASEL, D. COL1A12- Related Osteogenesis Imperfecta in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. http://www.genetests.org.

2. Dwan, K., Phillipi, C.A., Steiner, R.D., BASEL, D. Bisphosphonate therapy for osteogenesis imperfecta. Issue 7, The Cochrane Database of Systemtic Reviews, July, 2014. Reviewed Oct 2016. PMID: 27760454

3. Kliegman, R.M., Lye, P.S., Bordini, B.J., Toth, H., BASEL, D. Nelson Pediatric Symptom-Based Diagnosis. In print.

1. BASEL, D. Hypophosphataemic Rickets. In Proceedings 8th Biennial Congress of the Southern African Society of Human Genetics, Gordons Bay, South Africa, Scientific session 4, 1998.

2. McCormack, M., Blom, A., BASEL, D., Smart, R. MIDAS syndrome – detection of a deletion of Xp22.2 pter in a woman and her two affected daughters. 8th Biennial Congress of the Southern African Society of Human Genetics, Gordons Bay, South Africa, 1998.

3. BASEL, D. Common Genetic Disorders. Paediatric Nursing Congress, Cape Town, South Africa,1999.

4. BASEL, D., Sifakis, S., Arici, M., Beighton, P., Delozier-Blanchet, C., Kilpatrick, M.W., Tsipouras, P. Morphological characterization and genotype/phenotype correlation in SHFM. Annual Meeting of the American Society of Human Genetics, San Diego, California, 2001.

5. Essop, F.B., Greenberg, J., BASEL, D., Krause, A. Molecular analysis of a fragile X family with two females homozygous for a premutation. Annual Meeting of the American Society of Human Genetics, San Diego, California. 2001.

6. Skoura, A., Sifakis, S., Goodman, F., Winter, R., Lin, A., BASEL, D., Beighton, P., Kilpatrick, M.W., Tsipouras, P. Genome-wide screen of a panel of multigenerational families in Adams-Oliver syndrome. Annual Meeting of the American Society of Human Genetics, Baltimore, MD, 2002.

7. BASEL, D., Homfrey, T., Kilpatrick, M.W., Tsipouras, P. Mutation screening of the split hand foot malformation (shfm3) by positional transcript analysis. Annual Meeting of the American Society of Human Genetics, Baltimore, MD, 2002.

8. Smicun, Y., Kilpatrick, M.W., BASEL, D., Wenstrup, R.J., Tsipouras, P. Hammerhead ribozymes targeting glycine substitutions in type 1 collagen for the therapy of Osteogenesis imperfecta. Annual Meeting of the American Society of Human Genetics, Los Angeles, CA, 2003.

9. BASEL, D., Lada, Z., Kilpatrick, M.W., Wenstrup, R.J., Tsipouras, P. Multimeric hammerhead ribozymes show specific and efficient cleavage of glycine substitutions within the triple helical domain of Col1A1. Annual Meeting of the American Society of Human Genetics, Toronto,Canada,2004.

10. BASEL, D., Kilpatrick, M.W., Wenstrup, R.J., Tsipouras, P. Increased risk of cardiovascular disease in a patient with Marfan Syndrome and a homozygous C677T mutation of the MTHFR gene which has been associated with Homocystinuria. Annual Meeting of the American Society of Human Genetics, Toronto, Canada, 2004.

11. BASEL, D., Lada, Z., Peace, B., Kilpatrick, M.W., Tsipouras, P. Improved intracellular stability of multimeric hammerhead ribozymes. Annual Meeting of the American Society of Human Genetics, Salt Lake City, Utah, 2005.

12. Shanske, A., BASEL, D., Keller, S. The incidence of Marfan Syndrome in young patients who present with spontaneous pneumothorax. Pediatric Academic Societies’ Meeting, 2006.

13. Olivier, M., BASEL, D., Marcdante, K., Sidjanin, D.J. Comparing a traditional (lecture-based) teaching format to team-based learning in an Introductory Human Genetics course for medical students (MS1). 10th Annual Conference on Team-Based Learning in Higher Education; Team-Based Learning Collaborative, Las Vegas Nevada, 2011.

14. Chiu, Y.E., Dugan, S., BASEL, D.G., Siegel, D.H. Piebaldism with multiple café-au-lait macules and intertriginous freckling: evidence for a common pathway between KIT and SPRED1. International Meeting on Genetic Syndromes of the Ras/MAPK Pathway, Chicago, IL, 7/31/2011.

15. Offord, S., Sekhri, N., Holt, A., Reiss, J., Earing, M., Katzmark, L., BASEL, D. X-linked Periventricular Nodular Heterotopia and Ehlers-Danlos Syndrome Caused by Mutations in the FLNA Gene, American College of Medical Genetics Annual Meeting, 2012.

16. Juern, A.M., Holland, K., BASEL, D., Siegel, D. Progressive osseous heteroplasia. Wisconsin Dermatology Society (WDS) meeting. Madison, WI, 2013.

17. Geddes, G.C., BASEL, D.G. Yield of genetic testing in congenital heart disease requiring surgical intervention in the first year of life. Resident Day, Medical College of Wisconsin, Milwaukee, WI, 2013.

18. Vitola, B; BASEL, D; Veith, R; Casper, J; Thakar, M; Talano, JA. Familial Hemophagocytic Lymphohistiocytosis mimicking neonatal hemochromatosis . 30th Annual Histiocyte Society. Toronto, ON from October 28-30, 2014.

19. Vitola, B., BASEL, D., Veith, R., Thakar, M., Talano, J.A., Casper, J. Congenital HLH and associated non-immune hydrops. North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Annual Meeting,October 2014.

20. Oberle, E.J., BASEL, D.G., Scharer, G.H., Veith, R., Bayer, M.L., Siegel, D.H., Olson, J.C. The Thin Young Man . Identification of a POLD1 mutation using whole exome sequencing. American College of Rheumatology Annual Meeting, November 14-19, 2014, Boston, MA.

21. Ulrike, K., BASEL, D.G., Bick, D.P., Chirempes, B., Wei, L., vanTuinen, P., Peterson, JF. Severe Intellectual Disability in a Patient with Turner Syndrome Features. American Society of Human Genetics Annual Meeting, Vancouver, BC, Oct 2016.