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Roberta A Pagon

University of Washington(US)

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247

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7.0K

Citations

42

h-index

85

i10-index

Roberta A Pagon is an academic researcher from University of Washington. The author has contributed to research in topics: Genomics and Rare Diseases & BRCA gene mutations in cancer & Genomic variations and chromosomal abnormalities. The author has an h-index of 42, co-authored 210 publications.

Research Topics

Genomics and Rare Diseases BRCA gene mutations in cancer Genomic variations and chromosomal abnormalities Diverse Scientific and Economic Studies Prenatal Screening and Diagnostics

Papers by this author

works

Urethral obstruction malformation complex: A cause of abdominal muscle deficiency and the “prune belly”

1979 · The Journal of Pediatrics · 205 citations

https://doi.org/10.1016/s0022-3476(79)80210-3

Roberta A Pagon David W. Smith Thomas H. Shepard

Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families

1996 · American Journal of Medical Genetics · 136 citations

https://doi.org/10.1002/(sici)1096-8628(19961211)66:2<227::aid-ajmg20>3.0.co;2-u

R Hughes-Benzie Giuseppe Pilia J.Y. Xuan Alasdair G. W. Hunter

Partial <i>ATRX</i> gene duplication causes ATR‐X syndrome

2009 · American Journal of Medical Genetics Part A · 12 citations

https://doi.org/10.1002/ajmg.a.33006

Dianne Marie Cohn Roberta A Pagon Louanne Hudgins Charles E. Schwartz

Research topics

topics

Genomics and Rare Diseases

BRCA gene mutations in cancer

Genomic variations and chromosomal abnormalities

Diverse Scientific and Economic Studies

Prenatal Screening and Diagnostics

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