Richard M. Pauli

Department of Pediatrics University of Washington School of Medicine The Children's Orthopedic Hospital and Medical Center Seattle, Wash. USA

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Papers73 papers

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Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function

April N Meyer,Peggy Modaff, Clark G Wang,Elizabeth Wohler,Nara L Sobreira,Daniel J Donoghue,Richard M Pauli

American journal of medical genetics. Part A, (2020)

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Craniocervical junction issues after infancy in achondroplasia

Cory J Smid,Janet M Legare,Peggy Modaff,Richard M Pauli

American journal of medical genetics. Part A, (2020)

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Apparently benign craniocervical signs in achondroplasia: "neurologic leftovers" identified through a retrospective dataset

Cory J Smid,Janet M Legare,Peggy Modaff,Richard M Pauli

Orphanet journal of rare diseases, no. 1 (2020): 301

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Weight gain velocity in infants with achondroplasia

Madeleine E Buratti, Jens Eickhoff,Peggy Modaff,Richard M Pauli, Janet M Legare

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no. 1 (2019): 146-149

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Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients

Sheela Nampoothiri,Nursel H Elcioglu, Suleyman S Koca,Dhanya Yesodharan, Chandrababu Kk, Vinod Krishnan,Meenakshi Bhat, Mohandas Nair K,Natasha Radhakrishnan,Mahesh Kappanayil,Jayesh J Sheth,Sandra Alves

Clinical dysmorphology, no. 1 (2019): 7-16

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Achondroplasia: a comprehensive clinical review

Richard M. Pauli

Orphanet Journal of Rare Diseases, no. 1 (2019): 1

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Acanthosis nigricans in achondroplasia

Cory J Smid,Peggy Modaff, Adekemi Alade,Janet M Legare,Richard M Pauli

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no. 12 (2018): 2630-2636

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Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant

Eden Faye,Peggy Modaff,Richard Pauli,Janet Legare

Molecular Syndromology, pp.1, (2018)

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Multicenter study of mortality in achondroplasia

S Shahrukh Hashmi,Candace Gamble,Julie Hoover-Fong, Adekemi Yewande Alade,Richard M Pauli,Peggy Modaff, Meagan Carney, Cassondra Brown,Michael B Bober,Jacqueline T Hecht

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no. 11 (2018): 2359-2364

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Progression of Mineral Ion Abnormalities in Patients with Jansen's Metaphyseal Chondrodysplasia

Hiroshi Saito,Hiroshi Noda, Philippe Gatault,Detlef Bockenhauer,Kah Yin Loke,Olaf Hiort,Caroline Silve, Erin Sharwood,Regina Matsunaga Martin,Michael J Dillon,David Gillis,Mark Harris

The Journal of clinical endocrinology and metabolism, (2018)

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Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care

Janet M Legare,Peggy Modaff, Samuel P Strom,Richard M Pauli,Heather L Bartlett

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no. 11 (2018): 2237-2242

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Syringomyelia in hereditary multiple exostosis

Janet M Legare,Peggy Modaff,Bermans J Iskandar,Richard M Pauli

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no. 11 (2016): 2956-2959

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Letter to the editor: Response to two recent articles regarding achondroplasia

Richard M Pauli

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no. 4 (2016): 1099-1100

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LAMIN B RECEPTOR AS A CAUSE OF MILD SKELETAL DYSPLASIA

Richard M. Pauli,Peggy Modaff, Sonia Nanda, Lior Borovik, Garry Steel, Jing You,David Valle,Julie Hoover-Fong,Nara Sobreira

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no. 8 (2015): 1737-1737

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Novel COL2A1 Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type

Julie Jurgens,Nara Sobreira,Peggy Modaff,Catherine A Reiser,Soo Hyun Seo,Moonwoo Seong,Sung Sup Park,Ok Hwa Kim,Taejoon Cho,Richard M Pauli

Human Mutation, (2015)

Cited by4Bibtex

Stillbirth: Fetal Disorders:

RICHARD M. PAULI

Clinical Obstetrics and Gynecology, no. 3 (2010): 646-655

Cited by20Bibtex

Chondrodysplasia punctata associated with malabsorption from bariatric procedures

Lisa Kang,Denise Marty,Richard M Pauli,Nancy J Mendelsohn,Vivek Prachand,Darrel Waggoner

Surgery for obesity and related diseases : official journal of the American Society for Bariatric Su..., no. 1 (2010): 99-101

Cited by9WOSEIBibtex

Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth

Gordana Raca,Amber Artzer,Laura Thorson,Suzanne Huber,Peggy Modaff,Jennifer Laffin,Richard M Pauli

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no. 11 (2009): 2437-2443

Cited by17WOSBibtex

Stillbirth Classification—Developing an International Consensus for Research: Executive Summary of a National Institute of Child Health and Human Development Workshop

Uma M. Reddy,Robert Goldenberg,Robert Silver,Gordon C. S. Smith,Richard M. Pauli,Ronald J. Wapner,Jason Gardosi,Halit Pinar,Marjorie Grafe,Michael Kupferminc,Ingela Hulthén Varli,Jan Jaap H. M. Erwich

Obstetrics and Gynecology, no. 4 (2009): 901-914

Cited by60Bibtex

Classic and Atypical FOP Phenotypes are Caused by Mutations in the BMP Type I Receptor ACVR1

Frederick S Kaplan, M Xu,Petra Seemann, Michael Connor,David L Glaser,Liam Carroll,Patricia Delai,Elisabeth Fastnachturban,Stephen J Forman,Gabriele Gillessenkaesbach,Julie Hooverfong, Bernhard Koster

Human Mutation, (2009)

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