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

            

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, Levrence EN, Tripathi S, Dsouza NR, Mathison AJ, Basel DG, Volkman BF, Smith BC, Lomberk G, Zimmermann MT, Urrutia R.) Orphanet J Rare Dis. 2021 02 05;16(1):66 PMID: 33546721 PMCID: PMC7866879 SCOPUS ID: 2-s2.0-85100579633 02/07/2021
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 Jan 20 PMID: 33470897 01/21/2021
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 12/11/2020
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 01/29/2021
Liver failure and x-linked immunodeficiency type 47.

(Gumm AJ, Basel DG, Thakrar P, Suchi M, Telega G.) Pediatr Transplant. 2020 12;24(8):e13808 PMID: 32790950 SCOPUS ID: 2-s2.0-85089391265 08/14/2020
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 Oct-Nov;41(8):637-643 PMID: 33064400 10/17/2020
Compound heterozygous splicing CDON variants result in isolated ocular coloboma.

(Reis LM, Basel D, McCarrier J, Weinberg DV, Semina EV.) Clin Genet. 2020 11;98(5):486-492 PMID: 32729136 SCOPUS ID: 2-s2.0-85089451171 07/31/2020
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
Café au lait spots: When and how to pursue their genetic origins.

(Lalor L, Davies OMT, Basel D, Siegel DH.) Clin Dermatol. 2020 Jul - Aug;38(4):421-431 PMID: 32972601 09/26/2020
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
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

Donald G. Basel, MD

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

Biography

Research Experience

Clinical Expertise

Leadership Positions

Publications