Richard M Pauli

ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 12

Top Venues

American journal of medical genetics. Part A

Orphanet journal of rare diseases

Genetics in medicine : official journal of the American College of Medical Genetics

Acta paediatrica (Oslo, Norway : 1992)

University of Wisconsin Madison

University of Chicago (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Wisconsin Madison

United States

Professor :: Pediatrics and Medical Genetics

Education History

University of Chicago

United States

PHD :: Committee on Genetics

Publications

Nickolas J Nahm, W G Stuart Mackenzie, William G Mackenzie, Ethan Gough, Syed Shahrukh Hashmi, Jacqueline T Hecht, Janet M Legare, Mary Ellen Little, Peggy Modaff, Richard M Pauli, David F Rodriguez-Buritica, Maria Elena Serna, Cory J Smid, Julie Elizabeth Hoover-Fong, Michael B Bober
Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers. Orphanet journal of rare diseases 18 (1) (2023)
Janet M Legare, Richard M Pauli, Jacqueline T Hecht, Michael B Bober, Cory J Smid, Peggy Modaff, Mary Ellen Little, David F Rodriguez-Buritica, Maria Elena Serna, Adekemi Yewande Alade, Chengxin Liu, Julie Elizabeth Hoover-Fong, Syed Shahrukh Hashmi
CLARITY: Co-occurrences in achondroplasia-craniosynostosis, seizures, and decreased risk of diabetes mellitus. American journal of medical genetics. Part A 185 (4) (2021)
Janet M Legare, Cory J Smid, Peggy Modaff, Richard M Pauli
Achondroplasia is associated with increased occurrence of apparent life-threatening events. Acta paediatrica (Oslo, Norway : 1992) 110 (6) (2021)
Julie Elizabeth Hoover-Fong, Adekemi Y Alade, S Shahrukh Hashmi, Jacqueline T Hecht, Janet M Legare, Mary Ellen Little, Chengxin Liu, John McGready, Peggy Modaff, Richard M Pauli, David F Rodriguez-Buritica, Kerry J Schulze, Maria Elena Serna, Cory J Smid, Michael B Bober
Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States. Genetics in medicine : official journal of the American College of Medical Genetics 23 (8) (2021)
April N Meyer, Peggy Modaff, Clark G Wang, Elizabeth Wohler, Nara L Sobreira, Daniel J Donoghue, Richard M Pauli
Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function. American journal of medical genetics. Part A 185 (3) (2020)
Cory J Smid, Janet M Legare, Peggy Modaff, Richard M Pauli
Apparently benign craniocervical signs in achondroplasia: "neurologic leftovers" identified through a retrospective dataset. Orphanet journal of rare diseases 15 (1) (2020)
Cory J Smid, Janet M Legare, Peggy Modaff, Richard M Pauli
Craniocervical junction issues after infancy in achondroplasia. American journal of medical genetics. Part A 185 (1) (2020)
Madeleine E Buratti, Jens Eickhoff, Peggy Modaff, Richard M Pauli, Janet M Legare
Weight gain velocity in infants with achondroplasia. American journal of medical genetics. Part A 182 (1) (2019)
Richard M Pauli
Achondroplasia: a comprehensive clinical review. Orphanet journal of rare diseases 14 (1) (2019)
Janet M Legare, Peggy Modaff, Samuel P Strom, Richard M Pauli, Heather L Bartlett
Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care. American journal of medical genetics. Part A 176 (11) (2018)
Syed Shahrukh Hashmi, Candace Gamble, Julie Elizabeth Hoover-Fong, Adekemi Yewande Alade, Richard M Pauli, Peggy Modaff, Meagan Carney, Cassondra Brown, Michael B Bober, Jacqueline T Hecht
Multicenter study of mortality in achondroplasia. American journal of medical genetics. Part A 176 (11) (2018)
Cory J Smid, Peggy Modaff, Adekemi Alade, Janet M Legare, Richard M Pauli
Acanthosis nigricans in achondroplasia. American journal of medical genetics. Part A 176 (12) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Richard M Pauli