Donald G. Basel, MD

Section Chief and Professor, Pediatrics (Genetics); Associate Director, Undiagnosed & Rare Diseases, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine; 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

            

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 Jan 16:1-14 PMID: 36647261 SCOPUS ID: 2-s2.0-85146444446 01/18/2023
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 09/16/2022
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
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 04/05/2022
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 02/04/2022
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 08/04/2021
Cyanosis in a Previously Well Child.

(Bhat MA, Plunk MR, Basel DG, Hanson SJ.) Pediatr Rev. 2021 Nov;42(11):619-624 PMID: 34725222 11/03/2021
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 04/21/2021
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 05/05/2021
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
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
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

Donald G. Basel, MD

Locations

Biography

Research Experience

Clinical Expertise

Leadership Positions

Publications