Richard M. Pauli, MD, PhD Print Friendly Page
Faculty, University of Wisconsin School of Medicine and Public HealthRichard M. Pauli, MD, PhD, earned his medical degree from the University of Chicago and completed his residency at the Children's Orthopedic Hospital and Medical Center in Seattle.
Specialties
Clinics
UW School of Medicine and Public Health
| Department of Medical Genetics |
Professional Certifications and Education
| Board Certification |
Clinical Genetics
|
| Fellowship |
University of Washington Affiliated Hospitals, Seattle, WA
|
| Residency |
Seattle Children's Hospital, Seattle, WA
|
| Internship |
Seattle Children's Hospital, Seattle, WA
|
| Medical School |
University of Chicago Medical School, Chicago, IL
|
| Medical interpreters are available to help patients communicate with hospital and clinic staff. For more information, please contact interpreter services at (608) 262-9000. |
PubMed Articles
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Pauli RM
Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis . 2019 Jan 3;14(1):1
[PubMed ID: 30606190]
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Nampoothiri S Elcioglu NH Koca SS Yesodharan D Kk C Krishnan V 5th Bhat M Mohandas Nair K Radhakrishnan N Kappanayil M Sheth JJ Alves S Coutinho F Friez MJ Pauli RM Unger S Superti-Furga A Leroy JG Cathey SS
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients. Clin Dysmorphol . 2019 Jan;28(1):7-16
[PubMed ID: 30507725]
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Smid CJ Modaff P Alade A Legare JM Pauli RM
Acanthosis nigricans in achondroplasia. Am J Med Genet A . 2018 Dec;176(12):2630-2636
[PubMed ID: 30380187]
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Hashmi SS Gamble C Hoover-Fong J Alade AY Pauli RM Modaff P Carney M Brown C Bober MB Hecht JT
Multicenter study of mortality in achondroplasia. Am J Med Genet A . 2018 Nov;176(11):2359-2364
[PubMed ID: 30276962]
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Legare JM Modaff P Strom SP Pauli RM Bartlett HL
Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care. Am J Med Genet A . 2018 Nov;176(11):2237-2242
[PubMed ID: 30195254]
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Saito H Noda H Gatault P Bockenhauer D Loke KY Hiort O Silve C Sharwood E Martin RM Dillon MJ Gillis D Harris M Rao SD Pauli RM Gardella TJ Jüppner H
Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia. J Clin Endocrinol Metab . 2018 Jul 1;103(7):2660-2669
[PubMed ID: 29788189]
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Pauli RM Legare JM Adam MP Ardinger HH Pagon RA Wallace SE Bean LJH Stephens K Amemiya A
Achondroplasia . 1993;
[PubMed ID: 20301331]
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Lee CS Fu H Baratang N Rousseau J Kumra H Sutton VR Niceta M Ciolfi A Yamamoto G Bertola D Marcelis CL Lugtenberg D Bartuli A Kim C Hoover-Fong J Sobreira N Pauli R Bacino C Krakow D Parboosingh J Yap P Kariminejad A McDonald MT Aracena MI Lausch E Unger S Superti-Furga A Lu JT Baylor-Hopkins Center for Mendelian Genomics. Cohn DH Tartaglia M Lee BH Reinhardt DP Campeau PM
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet . 2017 Nov 2;101(5):815-823
[PubMed ID: 29100092]
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Legare JM Modaff P Iskandar BJ Pauli RM
Syringomyelia in hereditary multiple exostosis. Am J Med Genet A . 2016 Nov;170(11):2956-2959
[PubMed ID: 27480811]
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Pauli RM
Letter to the editor: Response to two recent articles regarding achondroplasia. Am J Med Genet A . 2016 Apr;170A(4):1099-100
[PubMed ID: 26753848]
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Jurgens J Sobreira N Modaff P Reiser CA Seo SH Seong MW Park SS Kim OH Cho TJ Pauli RM
Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type. Hum Mutat . 2015 Oct;36(10):1004-8
[PubMed ID: 26183434]
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Dessoffy KE Modaff P Pauli RM
Airway malacia in children with achondroplasia. Am J Med Genet A . 2014 Feb;164A(2):407-14
[PubMed ID: 24311312]
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Hoover-Fong J Sobreira N Jurgens J Modaff P Blout C Moser A Kim OH Cho TJ Cho SY Kim SJ Jin DK Kitoh H Park WY Ling H Hetrick KN Doheny KF Valle D Pauli RM
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Hum Genet . 2014 Jan 2;94(1):105-12
[PubMed ID: 24387990]
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Borovik L Modaff P Waterham HR Krentz AD Pauli RM
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. Am J Med Genet A . 2013 Aug;161A(8):2066-73
[PubMed ID: 23824842]
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Dwyer E Hyland J Modaff P Pauli RM
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. Am J Med Genet A . 2010 Dec;152A(12):3043-50
[PubMed ID: 21077202]
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Pauli RM
Stillbirth: fetal disorders. Clin Obstet Gynecol . 2010 Sep;53(3):646-55
[PubMed ID: 20661049]
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Raca G Artzer A Thorson L Huber S Modaff P Laffin J Pauli RM
Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth. Am J Med Genet A . 2009 Nov;149A(11):2437-43
[PubMed ID: 19876905]
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Greer KJ Kirkpatrick SJ Weksberg R Pauli RM
Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care. Am J Med Genet A . 2008 Jul 1;146A(13):1707-12
[PubMed ID: 18546283]
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Ghebranious N Raggio CL Blank RD McPherson E Burmester JK Ivacic L Rasmussen K Kislow J Glurich I Jacobsen FS Faciszewski T Pauli RM Boachie-Adjei O Giampietro PF
Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations. Scoliosis . 2007 Sep 23;2:13
[PubMed ID: 17888180]
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Pauli RM
The natural histories of bone dysplasias in adults--vignettes, fables and just-so stories. Am J Med Genet C Semin Med Genet . 2007 Aug 15;145C(3):309-21
[PubMed ID: 17639591]