CURRICULUM VITAE
Donald Basel MD
Donald Basel MD
Chief, Professor
Department of Pediatrics
Division of Genetics
Department of Pediatrics
Division of Genetics
OFFICE ADDRESS: |
Curative Care Network |
1000 N 92 St |
Milwaukee, WI 53226 |
Fax: 414-266-1616 |
Email: dbasel@mcw.edu |
EDUCATION: |
01/1987 - 11/1989 BSc, University of Witwateresrand, South Africa |
01/1990 - 11/1994 MBBCh, University of Witwatersrand, South Africa |
11/12/2006 Educational Commission for Foreign Medical Graduates |
POSTGRADUATE TRAINING AND FELLOWSHIP APPOINTMENTS: |
01/1995 - 12/1995 Internship, Tintswalo Hospital, Maphumulanga, South African |
01/1996 - 06/1996 Senior House Officer, Accident & Emergency Medicine, Worthing Hospital, Worthing, West Sussex, UK |
01/1998 - 06/1998 Senior House Officer, Pediatrics, Red Cross War Memorial Children’s Hospital, Cape Town, South Africa |
07/1998 - 12/2000 Registrar, Department of Human Genetics, University of Cape Town, South Africa |
01/2001 - 07/2007 Research Fellow, Department of Human Genetics and Developmental Biology, (Managed Lab 2003-2007), University of Connecticut Health Center, Farmington, CT |
07/2007 - 06/2009 Fellow, Medical Genetics, Oregon Health & Sciences University, Portland, OR |
07/2009 - 06/2010 Resident for ABMG, Oregon Health & Sciences University, Portland, OR |
07/2012 International Skeletal Dysplasia Workshop, (Selected as one of 10 candidates from 150 international applicants), Lusanne, Switzerland |
FACULTY APPOINTMENTS: |
07/2010 - 06/2015 Assistant Professor, Department of Pediatrics, Medical Genetics, Medical College of Wisconsin, Milwaukee, WI |
07/2015 - Present Associate Professor, Department of Pediatrics, Genetics, Medical College of Wisconsin, Milwaukee, WI |
ADMINISTRATIVE APPOINTMENTS: |
07/2015 - 06/2016 Interim Section Chief, Department of Pediatrics, Genetics, Medical College of Wisconsin, Milwaukee, WI |
07/2016 - Present Section Chief, Department of Pediatrics, Genetics, Medical College of Wisconsin, Milwaukee, WI |
07/2017 - Present Associate Director, Human and Molecular Genetics Center, Rare and Undiagnosed Disease Program, Medical Director, Milwaukee, WI |
EDUCATIONAL ADMINISTRATIVE APPOINTMENTS: |
07/01/2010 - 08/31/2015 Associate Program Director, Pediatrics, Genetics, Medical College of Wisconsin, Medical Genetics Residency Program, Milwaukee, WI |
2012 - 2015 Program Chair, Pediatrics, Clinical Competency Committee, Medical College of Wisconsin, Medical Genetics Residency Program, Milwaukee, WI |
2012 - Present Program Chair, Pediatrics, Program Evaluation Committee, Medical College of Wisconsin, Medical Genetics Residency Program, Milwaukee, WI |
2014 - Present Member, Pediatrics, Program Evaluation Committee, Medical College of Wisconsin, Medical Genetics Residency Program, Milwaukee, WI |
2014 - Present Member, Pediatrics, Clinical Competency Committee, Medical College of Wisconsin, Medical Genetics Residency Program, Milwaukee, WI |
09/01/2015 - Present Program Director, Pediatrics, Genetics, Medical College of Wisconsin, Medical Genetics Residency Program, Milwaukee, WI 53226 |
HOSPITAL AND CLINICAL ADMINISTRATIVE APPOINTMENTS: |
1991 - 1994 Student Rural Health Clinic, (administrative/funding and implementation of primary health care services at a rural health clinic) |
2010 - Present Co-Director, Children's Hospital of Wisconsin, Neurofibromatosis and RASopathy Center, Milwaukee, WI |
2010 - 2011 Member, (core group that redefined practice model), Medical College of Wisconsin, Fetal Concerns Steering Committee, Milwaukee, WI |
2012 - Present Clinical Practice Committee, Children's Hospital of Wisconsin, Genetics Center, (review current clinical practices in division and recommend changes in accordance with Best Practices), Milwaukee, WI |
2013 - Present Faculty Council, Children's Specialty Group, Medical College of Wisconsin, Board Member, Milwaukee, WI |
07/2016 - Present Medical Director, Genetics Center, Children's Hospital of Wisconsin, Milwaukee, WI |
HOSPITAL STAFF PRIVILEGES: |
1996 - 1997 Associate Physician, London Wall, London, UK, Dr. Dorothy Kelly & Associates (4/7 days/week |
1996 - 1997 Primary Care Physician, Harley Street, London, UK, Medcall UK (1 day/week) |
09/2010 - Present Children's Hospital of Wisconsin, 9000 W. Wisconsin Avenue, Milwaukee, WI 53226 |
12/13/2010 - Present Froedtert Memorial Lutheran Hospital, 9200 W. Wisconsin Ave, Milwaukee, WI 53226 |
01/2012 - Present Children's Hospital of Wisconsin, Fox Valley, 130 Second St, Neenah, WI 54956 |
04/2012 - 01/2013 Aurora Sinai Medical Center, Aurora West Allis Medical Center, Aurora Health Care, Milwaukee, WI |
SPECIALTY BOARDS AND CERTIFICATION: |
Board Certified | Issue Date | Expiration |
Clinical Genetics | 09/01/2011 | 12/31/2021 |
Licensure | Number | Issue Date | Expiration |
Wisconsin License | 54954 | 09/2010 | 10/2021 |
AWARDS AND HONORS: |
2014 - 2015 Teaching Award: High 5 Winner, Medical College of Wisconsin, Department of Pediatrics, Milwaukee, WI |
2016 - 2017 Expert Teacher, Medical College of Wisconsin, Department of Pediatrics, Milwaukee, WI |
2016 - 2019 Expert Clinician, Medical College of Wisconsin, Department of Pediatrics, Milwaukee, WI |
2017 Best Doctors in America |
2018 BEST Teacher: Pediatrics Residency , Medical College of Wisconsin, Department of Pediatrics, Milwaukee, WI |
2019 Expert Teacher, Medical College of Wisconsin, Department of Pediatrics |
2019 Best Doctors in America |
MEMBERSHIPS IN HONORARY AND PROFESSIONAL SOCIETIES: |
1999 - 2000 Western Cape Genetics Ethics Committee (Member) |
1999 - 2000 Cape Regional Spina Bifida Society (Medical Advisor) |
07/2007 - Present American College of Medical Genetics (Member) |
07/2009 - Present American Pediatric Association (Member) |
2011 - Present Association of Professors of Human and Medical Genetics (Member) |
07/2012 - Present International Skeletal Dysplasia Society (Member) |
EDITORSHIPS/EDITORIAL BOARDS/JOURNAL REVIEWS: |
Journal Review |
2003 - 2007 Human Molecular Genetics |
2004 - 2007 American Journal of Medical Genetics |
2009 - Present European Journal of Medical Genetics |
2009 - Present Genetics in Medicine |
2011 - Present GeneReviews |
2012 - Present Cochrane Reviews |
2012 - Present Journal of the American College of Nutrition |
Ad-Hoc Reviewer |
2016 Grant Review, Advancing a Healthier Wisconsin |
2017 Grant Review, Clinical and Translational Science Institute (CTSI) |
LOCAL/REGIONAL APPOINTED LEADERSHIP AND COMMITTEE POSITIONS: |
2013 - Present Member, Wisconsin Heterotaxy Interest Group, Medical College of Wisconsin |
07/01/2014 - 06/30/2017 Representative, Faculty Council, Medical College of Wisconsin |
04/01/2015 - Present Member, Genetics Advisory Committee, State of Wisconsin |
05/2016 - 07/2017 Member, HMGC Search Committee, Medical College of Wisconsin |
NATIONAL ELECTED/APPOINTED LEADERSHIP AND COMMITTEE POSITIONS: |
06/2016 - Present Council member, Association of Professors of Human and Medical Genetics |
RESEARCH GRANTS/AWARDS/CONTRACTS/PROJECTS: | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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INVITED LECTURES/WORKSHOPS/PRESENTATIONS: |
Local |
Review of lethal congenital skeletal dysplasias, Fetal Concerns meeting, Froedtert Hospital, Milwaukee, WI, 07/10/2010 |
The value of Computerized Tomography in prenatal diagnosis of skeletal dysplasia, Fetal Concerns Meeting, Froedtert Hospital, Milwaukee, WI, 07/11/2012 |
NF1 and plexiform neurofibromatosis, Tumor Board, Children's Hospital of Wisconsin, Milwaukee, WI, 07/19/2012 |
Case discussion on campomelic dysplasia and fetal imaging, Fetal Concerns Meeting, Froedtert Hospital, Milwaukee, WI, 08/29/2012 |
Mechanisms of dysmorphogenesis, Pediatric Noon Conference, Children's Hospital of Wisconsin, Milwaukee, WI, 09/24/2012 |
Mechanisms of dysmorphogenesis, Pediatric Noon Conference, Children's Hospital of Wisconsin, Milwaukee, WI, 09/24/2012 |
Dwarfs and other celestial dysplasias, Genetics Exchange, Children's Hospital of Wisconsin, Milwaukee, WI, 10/05/2012 |
To scan or not to scan, Children's Tumor Foundation, Children's Hospital of Wisconsin, Milwaukee, WI, 11/03/2012 |
Notch Signaling and Biological Clocks, Fetal Concerns Lecture Series, Froedtert Hospital, Milwaukee, WI, 02/06/2013 |
A brief look at free-cell DNA technology, The Fetal Concerns Center of WI Weekly Case Conference, Children's Hospital of Wisconsin, Milwaukee, WI, 06/05/2013 |
Genetics and Low Grade Gliomas, Tumor Board, Children's Hospital of Wisconsin, Milwaukee, WI, 07/11/2013 |
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, 09/18/2013 |
Hypermobility and Connective Tissue Disorders, Children's Hospital of Wisconsin, Physical and Occupational Therapy Department, Milwaukee, WI, 01/17/2014 |
Many Faces of EDS, Rheumatology Conference, Medical College of Wisconsin, Milwaukee, WI, 05/22/2014 |
Syndromes and Malformations, Noon Conference, Medical College of Wisconsin, Milwaukee, WI, 03/30/2015 |
Genetics to Put You to Sleep, Pediatric Anesthesiology, Medical College of Wisconsin, 05/11/2015 |
Dysmorphology-Clues from the Skin, Dermatology Fellows, Medical College of Wisconsin, Milwaukee, WI, 01/22/2016 |
Genetics and Genomics: Clinical Relevance in APN Practice & Scope for Career Development, Advanced Pratice Providers Retreat, Waukesha, WI, 10/05/2016 |
Making Sense of Skeletal Dysplasia, Fellow Lecture, Medical College of Wisconsin, Milwaukee, WI, 01/25/2017 |
Syndromes and Malformations, Pediatric Noon Conference, Medical College of Wisconsin, 02/24/2017 |
When to Refer to Genetics, Autonomic Workshop, Children's Hospital of Wisconsin, 06/02/2017 |
Syndromes and Microdeletions, Maternal Fetal Medicine Noon Conference, Medical College of Wisconsin, 08/16/2017 |
Regional |
The future of genetic testing in neurofibromatosis & clinical trials: the benefit for patients with NF1, NF1 Regional Family Symposium, 03/12/2011 |
Review of genes and mechanisms in Stickler Syndrome, Annual Stickler Support Meeting, 07/09/2011 |
Hypoglycemia and Cyclic Vomiting, 2011 State of Wisconsin Practical Genetics Conference for Health Care Providers, Marshfield, WI, 10/2011 |
To EDS & Beyond the Matrix: An approach to hereditary disorders of the connective tissue, St. Agnes Hospital, Department of Pediatrics and Medical Staff CME meeting, Fond du lac, WI, 05/16/2013 |
Connective Tissue Disorders, St. Agnes Hospital Medical Staff Conference, Fond du Lac, WI, 05/16/2013 |
Many Faces of EDS, Genetics Exchange, Madison, WI, 06/06/2014 |
The Many Changing Faces of EDS, Genetics Exchange, Madison, WI, 06/06/2014 |
The connective tissue paradigm in NF1, Littlest Tumor Foundation, 2014 |
Extra musculoskeletal disease in connective tissue disorders: Why do structural protein anomalies cause fibromyalgia,, Regional Genetic Conference, Madison, WI, 2014 |
Evolving Genetic Service Delivery Models, Wisconsin Genetics Exchange 2016, Marshfield, WI, 09/09/2016 |
Restructing of the Genetic Clinic Workflow, Oregon Health & Science University, Portland, OR, 12/02/2016 |
Integerating Genomic Medicine into Clinical Practice, Best Practices, Children's Hospital of Wisconsin, Wisconsin Dells, WI, 03/11/2017 |
National |
Dietz, De Paepe, et al, Consortium for Disorders of Connective Tissue, NIH Workshop, Bethesda, MD, 2005 |
BioMarin Best Practices in the Slowly Progressing MPS VI Patient, Biomarin Advisory Board, Washington, DC, 05/11/2012 |
Alexion Hypohosphatasia Advisory Board Meeting, Denver, Co, 05/30/2014 |
The Nelson Service - Lessons Learned from Undiagnosed and Rare Disease Program, 6th Annual Mayo Clinic Individualizing Medicine Conference, Rochester, MN, 10/09/2017 - 10/10/2017 |
International |
Dysmorphology Examination, MCW/China Medical Association, Intensive Developmental and Behavioral Pediatrics Training for Chinese Pediatricians, Medical College of Wisconsin, Milwaukee, WI, 09/10/2012 |
An approach to Dysmorphology for Developmental Pediatricians, Intensive Developmental and Behavioral Pediatrics in Training for Chinese Pediatricians, Medical College of Wisconsin, Milwaukee, WI, 09/10/2012 |
MEDICAL COLLEGE TEACHING ACTIVITIES: |
Medical Student Education |
2010 Team Based Learning Pilot Group |
2010 MS1 Facilitator in medical genetics component of TBL |
2011 - Present Evaluator: Junior Medical Student Genetics Rotation |
2012 Evaluator: M2 Physical Exam Workshop |
01/24/2014 M3 Intersession on Professionalism |
01/2014 - 12/2014 M1 Clinical Apprenticeship, Brianna McSorley (40-50 hours) |
07/01/2014 - Present Course Director, CEC Discovery M3-M4 Elective |
2014 - Present M2 Neuropathology - Malformations and Developmental diseases (10 hours) |
2014 M2 Elective Fair |
03/09/2015 CNS Malformations Lecture |
03/07/2016 CNS Malformations Lecture |
10/27/2016 MCAD Small Discussion Group |
03/02/2017 Malformations and Developmental Disorders |
03/08/2017 Toxic and Metabolic Disoders of the CNS |
Resident and Fellow Education |
2010 - 2012 Noon Conference (varied subject content - 5 didactic sessions) |
2011 Surf the Boards |
09/29/2012 Ace the Boards |
11/14/2012 Basic Science Lecture, Genetic Basis of Disorders with Orthopaedic Manifestations |
09/30/2013 Ace the Boards |
06/29/2016 Common Skeletal Malformations, Maternal Fetal Care Fellow Lecture |
10/26/2016 Genetic Disorders with Orthopaedic Manifestations |
11/03/2017 Moderate Lecture on Neurocutaneous Disorders |
11/28/2017 Genetic Testing - Types of Tests |
Graduate Student Education |
11/01/2012 Clinical & Translational Science Institute, Developmental Genetics/Connective Tissue Disorders |
EXTRAMURAL TEACHING: |
Medical Student Education |
1998 - 2000 University of Cape Town, South Africa, MS1-3 Medical genetics course |
2001 - 2007 University of Conneticut (UCONN), MS 1/2 and Dental Students: Small group teaching Genetics Course |
2007 - 2010 Oregon Health and Sciences University, Portland, Oregon, MS1-2 Lecture and small group facilitator |
2007 - 2010 Oregon Health and Sciences University, Portland, OR, Small group facilitator |
2007 - 2010 Oregon Health and Sciences University, Portland, OR, MS1-2 Lecture |
Resident and Fellow Education |
2007 - 2010 Oregon Health and Sciences University, Portland, Oregon, Noon seminar series on Genetics |
2007 - 2010 OHSU and Shriner's, Portland, OR, Neurology, OB/GYN, Orthopedics |
Continuing Medical Education |
1998 - 2000 Southern Cape District, South Africa, Key organizer and educator for several 5 day conferences to educate Genetic nurse practitioners in basic clinical genetic skills and genetic counseling |
2007 - 2010 Oregon Health and Sciences University, Grand Rounds, Pediatrics, Molecular and Medical Genetics |
MCW STUDENTS, FACULTY, RESIDENTS AND CLINICAL/RESEARCH FELLOWS MENTORED: |
Medical Students |
Bryce Schuler, Medical College of Wisconsin, 07/2015 - Present Mentor |
PROGRAMMATIC DEVELOPMENTS: |
Clinical Programs |
1998 - 2000 Western Cape District Medical Genetics Rural Health Program, Institutional & Outreach Genetics Screening Program (Key role in expanding existing services, helped to establish presymptomatic screening |
2000 - 2005 Dysmorphology Listserv (Developed in conjunction with Dr. Han Brunner) |
2008 - 2009 Fetal Evaluation Program (Oregon Health and Sciences University - OHSU), Adult Connective Tissue Disorders clinic (Developed along with Dr. J. Sampson) |
2010 - Present Co-Director, Neurofibromatosis and RASopathy Center |
2010 - Present Hereditary Disorders of Connective Tissue Clinic |
2010 - Present Fetal Concerns Program, Genetics consultant |
2011 - Present Familial Cancer Service for children |
2013 - Present Diagnostic Odyssey/Nelson Services - Rare Disease Consortium (core founding member with Drs. Kliegman, Bordini and Nocton) |
COMMUNITY SERVICE ACTIVITIES: |
1991 - 1994 Rural Health Services Development, University of Witwateresrand, South Africa |
1995 Several health education initiatives for Nurse Practitioners in Gazankulu, South Africa |
BIBLIOGRAPHY |
Refereed Journal Publications/Original Papers |
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. |
Books, Chapters, and Reviews |
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. |
Abstracts |
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. |
