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Employment (1)

University of Wisconsin Madison: Madison, WI, US

Professor (Pediatrics and Medical Genetics)
Employment
Source: Self-asserted source
Richard Pauli

Education and qualifications (3)

University of Chicago: Chicago, IL, US

1975 | MD (Medical School)
Education
Source: Self-asserted source
Richard Pauli

University of Chicago: Chicago, IL, US

1968 to 1973 | PhD (Committee on Genetics)
Education
Source: Self-asserted source
Richard Pauli

Rutgers University New Brunswick: New Brunswick, NJ, US

1968 | BA (Zoology)
Education
Source: Self-asserted source
Richard Pauli

Works (11)

Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers

Orphanet Journal of Rare Diseases
2023-06-06 | Journal article
DOI: 10.1186/s13023-023-02738-x
Contributors: Nickolas J. Nahm; W. G. Stuart Mackenzie; William G. Mackenzie; Ethan Gough; S. Shahrukh Hashmi; Jacqueline T. Hecht; Janet M. Legare; Mary Ellen Little; Peggy Modaff; Richard M. Pauli et al.
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Crossref

Achondroplasia is associated with increased occurrence of apparent life‐threatening events

Acta Paediatrica
2021-06 | Journal article
DOI: 10.1111/apa.15760
Contributors: Janet M. Legare; Cory J. Smid; Peggy Modaff; Richard M. Pauli
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Crossref

CLARITY: Co‐occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus

American Journal of Medical Genetics Part A
2021-04 | Journal article
DOI: 10.1002/ajmg.a.62096
Contributors: 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 et al.
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Crossref

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
2021-03 | Journal article
DOI: 10.1002/ajmg.a.62043
Contributors: April N. Meyer; Peggy Modaff; Clark G. Wang; Elizabeth Wohler; Nara L. Sobreira; Daniel J. Donoghue; Richard M. Pauli
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Crossref

Craniocervical junction issues after infancy in achondroplasia

American Journal of Medical Genetics Part A
2021-01 | Journal article
DOI: 10.1002/ajmg.a.61941
Contributors: Cory J. Smid; Janet M. Legare; Peggy Modaff; Richard M. Pauli
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Crossref

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

Orphanet Journal of Rare Diseases
2020-12 | Journal article
DOI: 10.1186/s13023-020-01584-5
Contributors: Cory J. Smid; Janet M. Legare; Peggy Modaff; Richard M. Pauli
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Crossref

Weight gain velocity in infants with achondroplasia

American Journal of Medical Genetics Part A
2020-01 | Journal article
DOI: 10.1002/ajmg.a.61400
Contributors: Madeleine E. Buratti; Jens Eickhoff; Peggy Modaff; Richard M. Pauli; Janet M. Legare
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Crossref

Achondroplasia: a comprehensive clinical review

Orphanet Journal of Rare Diseases
2019-12 | Journal article
DOI: 10.1186/s13023-018-0972-6
Contributors: Richard M. Pauli
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Crossref

Acanthosis nigricans in achondroplasia

American Journal of Medical Genetics Part A
2018-12 | Journal article
DOI: 10.1002/ajmg.a.40506
Contributors: Cory J. Smid; Peggy Modaff; Adekemi Alade; Janet M. Legare; Richard M. Pauli
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Crossref

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

American Journal of Medical Genetics Part A
2018-11 | Journal article
DOI: 10.1002/ajmg.a.40377
Contributors: Janet M. Legare; Peggy Modaff; Samuel P. Strom; Richard M. Pauli; Heather L. Bartlett
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Crossref

Multicenter study of mortality in achondroplasia

American Journal of Medical Genetics Part A
2018-11 | Journal article
DOI: 10.1002/ajmg.a.40528
Contributors: 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
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Crossref

Peer review (1 review for 1 publication/grant)

Review activity for Orphanet journal of rare diseases. (1)
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