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Richard M. Pauli, MD, PhD

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Richard M. Pauli, MD, PhD Print Friendly Page

Faculty, University of Wisconsin School of Medicine and Public Health

Richard 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

Pediatric Genetics and Metabolism

Achondroplasia

Down Syndrome

Ehlers-Danlos Syndrome

Marfan Syndrome

Show more...

Clinics

Waisman Center
(608) 263-3301 | (800) 323-8942 | Map
Waisman Center
(608) 263-3301 | (800) 323-8942 | Map

Hospital Affiliation(s)

University Hospital

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
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]
Pauli RM Legare JM Adam MP Ardinger HH Pagon RA Wallace SE Bean LJH Stephens K Amemiya A Achondroplasia . 1993;
[PubMed ID: 20301331]
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]
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]
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]
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]
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]
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]
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]
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]
Pauli RM Stillbirth: fetal disorders. Clin Obstet Gynecol . 2010 Sep;53(3):646-55
[PubMed ID: 20661049]
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]
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]
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]
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]
Walters BA Raff ML Hoeve JV Tesser R Langer LO France TD Glass IA Pauli RM Spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Med Genet A . 2004 Sep 1;129A(3):265-76
[PubMed ID: 15326626]
Flynn MA Pauli RM Double heterozygosity in bone growth disorders: four new observations and review. Am J Med Genet A . 2003 Sep 1;121A(3):193-208
[PubMed ID: 12923858]
White AL Modaff P Holland-Morris F Pauli RM Natural history of rhizomelic chondrodysplasia punctata. Am J Med Genet A . 2003 May 1;118A(4):332-42
[PubMed ID: 12687664]
Hancock S Pryde P Fong C Brazy JE Stewart K Favour A Pauli RM Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution. Am J Med Genet . 2002 Jul 15;110(4):370-9
[PubMed ID: 12116212]
Gallagher CL Waclawik AJ Beinlich BR Harding CO Pauli RM Poirer J Pandolfo M Salamat MS Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic report. J Child Neurol . 2002 Jun;17(6):453-6
[PubMed ID: 12174969]