RichardMPauliMD

PubMed

• 11 citations
  Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospe...
  Julie E Hoover-Fong, Kerry J Schulze, Adekemi Y Alade, Michael B Bober, Ethan Gough, S Shahrukh Hashmi, Jacqueline T Hecht, Janet M Legare, Mary Ellen Little, Peggy Mo...> ;Orphanet Journal of Rare Diseases. 2021 Dec 23
• 2 citations
  Otolaryngology Utilization in Patients With Achondroplasia: Results From the CLARITY Study.
  David E. Tunkel, Ethan K. Gough, Michael B. Bober, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David R...> ;The Laryngoscope. 2021 Oct 28
• 8 citations
  Achondroplasia Natural History Study (CLARITY): 60-year experience in cervicomedullary decompression in achondroplasia from four skeletal dysplasia centers
  Janet M. Legare, Chengxin Liu, Richard M. Pauli, Adekemi Yewande Alade, S. Shahrukh Hashmi, Jeffrey W. Campbell, Cory J. Smid, Peggy Modaff, Mary Ellen Little, David R...> ;Journal of Neurosurgery. Pediatrics. 2021 Jun 4
• 25 citations
  Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States.
  Julie Hoover-Fong, Adekemi Yewande Alade, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Chengxin Liu, John McGready, Peggy Modaff, Richa...> ;Genetics in Medicine. 2021 May 18
• 4 citations
  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 Sobreira, Daniel J. Donoghue, Richard M. Pauli> ;American Journal of Medical Genetics. Part A. 2021 Mar 1
• 6 citations
  CLARITY: Co-occurrences in achondroplasia-craniosynostosis, seizures, and decreased risk of diabetes mellitus.
  Janet M. Legare, Richard M. Pauli, Jacqueline T. Hecht, Michael B. Bober, Cory J. Smid, Peggy Modaff, Mary Ellen Little, David Rodriguez-Buritica, Maria Elena Serna, A...> ;American Journal of Medical Genetics. Part A. 2021 Jan 26
• 1 citations
  Achondroplasia is associated with increased occurrence of apparent life-threatening events.
  Janet M. Legare, Cory J Smid, Peggy Modaff, Richard M. Pauli> ;Acta Paediatrica. 2021 Jan 16
• 4 citations
  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. 2021 Jan 1
• 7 citations
  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. 2020 Oct 23
• 3 citations
  Weight gain velocity in infants with achondroplasia
  Madeleine E Buratti, Jens C. Eickhoff, Peggy Modaff, Richard M. Pauli, Janet M. Legare> ;American Journal of Medical Genetics. Part A. 2020 Jan 1
• 9 citations
  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 M. Pauli, Janet M. Legare> ;Molecular Syndromology. 2019 May 1
• 192 citations
  Achondroplasia: a comprehensive clinical review
  Richard M. Pauli> ;Orphanet Journal of Rare Diseases. 2019 Jan 3
• 5 citations
  Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.
  Sheela Nampoothiri, Nursel Elcioglu, Süleyman Serdar Koca, Dhanya Yesodharan, Chandrababu Kk, Vinod Krishnan, Meenakshi Bhat, Mohandas Nair K, Natasha Radhakrishnan, M...> ;Clinical Dysmorphology. 2019 Jan 1
• 9 citations
  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. 2018 Nov 1
• 4 citations
  Acanthosis nigricans in achondroplasia.
  Cory J. Smid, Peggy Modaff, Adekemi Yewande Alade, Janet M. Legare, Richard M. Pauli> ;American Journal of Medical Genetics. Part A. 2018 Dec 1
• 20 citations
  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, Jacquel...> ;American Journal of Medical Genetics. Part A. 2018 Nov 1
• 10 citations
  Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia.
  Hiroshi Saito, Hiroshi Noda, Philippe Gatault, Detlef Bockenhauer, Kah Yin Loke, Olaf Hiort, Caroline Silve, Erin Sharwood, Regina Matsunaga Martin, M J Dillon, David ...> ;The Journal of Clinical Endocrinology and Metabolism. 2018 Jul 1
• 29 citations
  Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”
  Chae Syng Lee, He Fu, Nissan V. Baratang, Justine Rousseau, Heena Kumra, V. Reid Sutton, Marcello Niceta, Andrea Ciolfi, Guilherme L. Yamamoto, Débora Romeo Bertola, C...> ;American Journal of Human Genetics. 2017 Nov 2
• 1 citations
  Syringomyelia in Hereditary Multiple Exostosis.
  Janet M. Legare, Peggy Modaff, Bermans J. Iskandar, Richard M. Pauli> ;American Journal of Medical Genetics. Part A. 2016 Nov 1
• 2 citations
  Letter to the editor: Response to two recent articles regarding achondroplasia
  Richard M. Pauli> ;American Journal of Medical Genetics. Part A. 2016 Apr 1
• 16 citations
  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, Moon Woo Seong, Sung Sup Park, Ok Hwa Kim, Tae Joon Cho, Richard M. Pauli> ;Human Mutation. 2015 Oct 1
• 13 citations
  An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic he...
  Nara Sobreira, Peggy Modaff, Gary Steel, Jing You, Sonia Nanda, Julie Hoover-Fong, David Valle, Richard M. Pauli> ;American Journal of Medical Genetics. Part A. 2015 Jan 1
• 16 citations
  Airway malacia in children with achondroplasia.
  Kimberly E. Dessoffy, Peggy Modaff, Richard M. Pauli> ;American Journal of Medical Genetics. Part A. 2014 Feb 1
• 42 citations
  Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
  Julie Hoover-Fong, Nara Sobreira, Julie Jurgens, Peggy Modaff, Carrie Blout, Ann B. Moser, Ok Hwa Kim, Tae Joon Cho, Sung Yoon Cho, Sang Jin Kim, Dong Kyu Jin, Hiroshi...> ;American Journal of Human Genetics. 2014 Jan 2
• 23 citations
  Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
  Lior Borovik, Peggy Modaff, Hans R. Waterham, Anthony D. Krentz, Richard M. Pauli> ;American Journal of Medical Genetics. Part A. 2013 Aug 1
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Journal Articles

• Acanthosis Nigricans in Achondroplasia  
  Janet M Legare, Richard M Pauli, American Journal of Medical Genetics Part A
• Geleophysic Dysplasia: 48 Year Clinical Update with Emphasis on Cardiac Care  
  Samuel P Strom, Janet M Legare, Richard M Pauli, American Journal of Medical Genetics Part A