FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Roberta Pagon

Research Profile

Procedures

Disorders

Living Beings

Concepts & Ideas

Physiology

Occupations

Anatomy

Y Chromosome

Co-author Network

Publications

TOP 3
Margaret P Adam; Angela Badaru; Edith Y Cheng; Patricia Y Fechner; Richard E Grady; Elizabeth McCauley; Roberta A Pagon; Melissa A Parisi; Linda A Ramsdell; Margarett Shnorhavorian
Ambiguous genitalia: what prenatal genetic testing is practical?
Malathi Srinivasan; Daniel J Tancredi; Wylie Burke; Frank C Day; Erin Jenifer Griffin; Jerome R Hoffman; Roberta A Pagon; Linda Pinsky; Michael S Wilkes
Implementation outcomes of a multiinstitutional web-based ethical, legal, and social implications genetics curriculum for primary care residents in three specialties.
Dianne M Cohn; Roberta A Pagon; Louanne Hudgins; Charles E Schwartz; Roger E Stevenson; Michael J Friez
Partial ATRX gene duplication causes ATR-X syndrome.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Roberta Pagon (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2012: Margaret P Adam; Angela Badaru; Edith Y Cheng; Patricia Y Fechner; Richard E Grady; Elizabeth McCauley; Roberta A Pagon; Melissa A Parisi; Linda A Ramsdell; Margarett Shnorhavorian
Ambiguous genitalia: what prenatal genetic testing is practical?
American journal of medical genetics. Part A 2012;158A(6):1337-43.
2011: Malathi Srinivasan; Daniel J Tancredi; Wylie Burke; Frank C Day; Erin Jenifer Griffin; Jerome R Hoffman; Roberta A Pagon; Linda Pinsky; Michael S Wilkes
Implementation outcomes of a multiinstitutional web-based ethical, legal, and social implications genetics curriculum for primary care residents in three specialties.
Genetics in medicine : official journal of the American College of Medical Genetics 2011;13(6):553-62.
2009: Dianne M Cohn; Roberta A Pagon; Louanne Hudgins; Charles E Schwartz; Roger E Stevenson; Michael J Friez
Partial ATRX gene duplication causes ATR-X syndrome.
American journal of medical genetics. Part A 2009;149A(10):2317-20.
2009: Muin J Khoury; Lars Bertram; Paolo Boffetta; Adam S Butterworth; STEPHEN CHANOCK; Siobhan M Dolan; Isabel Fortier; Montserrat Garcia-Closas; Marta Gwinn; Julian P T Higgins; A Cecile J W Janssens; James Ostell; Ryan P Owen; Roberta A Pagon; Timothy R Rebbeck; Nathaniel Rothman; Jonine L Bernstein; Paul R Burton; Harry Campbell; Anand Chockalingam; Anna Furberg-Barnes; Julian Little; Thomas R O'Brien; Daniela Seminara; Paolo Vineis; Deborah M Winn; Wei Yu; John Ioannidis
Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases.
American journal of epidemiology 2009;170(3):269-79.
2009: Darrel J Waggoner; Roberta A Pagon
Internet resources in medical genetics.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2009;Chapter 9():Unit 9.12.
2009: Ira M Lubin; Margaret M McGovern; Zoe Gibson; Susan J Gross; Elaine Lyon; Roberta A Pagon; Victoria M Pratt; Jamila Rashid; Colleen Shaw; Lander Stoddard; Tracy L Trotter; Marc S Williams; Jean Amos Wilson; Kenneth Pass
Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report.
The Journal of molecular diagnostics : JMD 2009;11(2):162-71.
2008: Ira M Lubin; Michele Caggana; Carolyn Constantin; Susan J Gross; Elaine Lyon; Roberta A Pagon; Tracy L Trotter; Jean Amos Wilson; Margaret M McGovern
Ordering molecular genetic tests and reporting results: practices in laboratory and clinical settings.
The Journal of molecular diagnostics : JMD 2008;10(5):459-68.
2008: William Andrew Faucett; Suzanne Hart; Roberta A Pagon; Lisa Forman Neall; Giovanna Spinella
A model program to increase translation of rare disease genetic tests: collaboration, education, and test translation program.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(5):343-8.
2007: Roberta A Pagon
2006 ASHG Award for Excellence in Human Genetics Education. GeneTests: Integrating genetic services into patient care.
American journal of human genetics 2007;81(4):658-9.
2007: Melissa A Parisi; Linda A Ramsdell; Mark W Burns; Michael C Carr; Richard E Grady; Daniel F Gunther; Gadi B Kletter; Elizabeth McCauley; Michael E Mitchell; Kent E Opheim; Catherine Pihoker; Gail E Richards; Michael R Soules; Roberta A Pagon
A Gender Assessment Team: experience with 250 patients over a period of 25 years.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(6):348-57.
2006: Roberta A Pagon
Internet resources in Medical Genetics.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2006;Chapter 9():Unit 9.12.
2006: Roberta A Pagon
GeneTests: an online genetic information resource for health care providers.
Journal of the Medical Library Association : JMLA 2006;94(3):343-8.
2005: Roberta A Pagon
Genetic testing: when to test, when to refer.
American family physician 2005;72(1):33-4.
2004: Roberta A Pagon
Molecular genetic testing for inherited disorders.
Expert review of molecular diagnostics 2004;4(2):135-40.
2003: Elisabeth Sock; Roberta A Pagon; Kathelijn Keymolen; Willy Lissens; Michael Wegner; Gerd Scherer
Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.
Human molecular genetics 2003;12(12):1439-47.
2002: Roberta A Pagon
Genetic testing for disease susceptibilities: consequences for genetic counseling.
Trends in molecular medicine 2002;8(6):306-7.
2002: Melissa A Parisi; Gad B Kletter; Richard W Grady; Michael Mitchell; Linda A Ramsdell; Roberta A Pagon
Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome?
American journal of medical genetics 2002;109(4):271-7.
2002: Roberta A Pagon; Peter Tarczy-Hornoch; Patricia K Baskin; Joseph E Edwards; Maxine L Covington; Miriam Espeseth; Christine Beahler; Thomas D Bird; Bradley Popovich; Charli Nesbitt; Cynthia Dolan; Kathi Marymee; Nancy B Hanson; Whitney Neufeld-Kaiser; Gina McCullough Grohs; Tracy Kicklighter; Cynthia Abair; Audin Malmin; Matthew Barclay; Rajasri Dharani Palepu
GeneTests-GeneClinics: genetic testing information for a growing audience.
Human mutation 2002;19(5):501-9.
2001: L Pinsky; Roberta A Pagon; W Burke
Genetics through a primary care lens.
The Western journal of medicine 2001;175(1):47-50.
2001: Roberta A Pagon; N B Hanson; Whitney Neufeld-Kaiser; M L Covington
Genetic consultation.
The Western journal of medicine 2001;174(6):397-9.
2001: Roberta A Pagon; N B Hanson; Whitney Neufeld-Kaiser; M L Covington
Genetic testing.
The Western journal of medicine 2001;174(5):344-7.
2001: Roberta A Pagon; Linda E Pinsky
The helix and health: applying genetics to primary care.
The Western journal of medicine 2001;174(5):304.
2001: Roberta A Pagon; Linda E Pinsky; C C Beahler
Online medical genetics resources: a US perspective.
BMJ (Clinical research ed.) 2001;322(7293):1035-7.
2000: Peter Tarczy-Hornoch; P Shannon; P Baskin; M Espeseth; Roberta A Pagon
GeneClinics: a hybrid text/data electronic publishing model using XML applied to clinical genetic testing.
Journal of the American Medical Informatics Association : JAMIA 2000;7(3):267-76.
1999: Roberta A Pagon; Peter Tarczy-Hornoch
The virtues of the virtual world.
Genetics in medicine : official journal of the American College of Medical Genetics 1999;1(5):177.
1999: H Kawame; M C Hannibal; Louanne Hudgins; Roberta A Pagon
Phenotypic spectrum and management issues in Kabuki syndrome.
The Journal of pediatrics 1999;134(4):480-5.
1998: Perrine Malzac; H Webber; Anne Moncla; J M Graham; M Kukolich; C Williams; Roberta A Pagon; Linda A Ramsdell; T Kishino; Joseph Wagstaff
Mutation analysis of UBE3A in Angelman syndrome patients.
American journal of human genetics 1998;62(6):1353-60.
1998: Peter Tarczy-Hornoch; M L Covington; J Edwards; P Shannon; Sherrilynne Fuller; Roberta A Pagon
Creation and maintenance of Helix, a Web based database of medical genetics laboratories, to serve the needs of the genetics community.
Proceedings / AMIA ... Annual Symposium. AMIA Symposium 1998;():341-5.
1998: M L Raff; Kathleen A Leppig; J C Rutledge; Ed Weinberger; Roberta A Pagon
Brachydactyly type A1 with abnormal menisci and scoliosis in three generations.
Clinical dysmorphology 1998;7(1):29-34.
1997: H Kawame; Roberta A Pagon; Louanne Hudgins
Digital anomalies, microcephaly, and normal intelligence: new syndrome or Feingold syndrome?
American journal of medical genetics 1997;69(3):240-4.
1997: DB Schowalter; Roberta A Pagon; Robert E Kalina; R McDonald
Facio-oculo-acoustico-renal (FOAR) syndrome: case report and review.
American journal of medical genetics 1997;69(1):45-9; discussion 44.
1996: R M Hughes-Benzie; Giuseppe Pilia; JY Xuan; Alasdair G W Hunter; E Chen; Mahin Golabi; Jane A Hurst; J Kobori; K Marymee; Roberta A Pagon; H H Punnett; S Schelley; John Tolmie; M M Wohlferd; T Grossman; David Schlessinger; Alex E MacKenzie
Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.
American journal of medical genetics 1996;66(2):227-34.
1996: S L Vanderhooft; J S Francis; Roberta A Pagon; Lynne T Smith; Virginia P Sybert
Prevalence of hypopigmented macules in a healthy population.
The Journal of pediatrics 1996;129(3):355-61.
1994: M E Nunes; Roberta A Pagon; C J Disteche; James P Evans
A contiguous gene deletion syndrome at 7q21-q22 and implications for a relationship between isolated ectrodactyly and syndromic ectrodactyly.
Clinical dysmorphology 1994;3(4):277-86.
1993: S E Palmer; Roberta A Pagon
Familial hydrocephalus with a low-insertion umbilicus.
Clinical dysmorphology 1993;2(4):351-9.
1993: Kathleen A Leppig; Roberta A Pagon
Phenotypic correlations of ocular coloboma without known cause.
Clinical dysmorphology 1993;2(4):322-31.
1993: Kathleen A Leppig; C J Brown; S L Bressler; K Gustashaw; Roberta A Pagon; H F Willard; Christine M Disteche
Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XIST.
Human molecular genetics 1993;2(7):883-7.
1993: D J Tilstra; M Grove; A C Spencer; Thomas H Norwood; Roberta A Pagon
Mosaic isochromosome 8p.
American journal of medical genetics 1993;46(5):517-9.
1992: Robert D Steiner; Roberta A Pagon
Autosomal dominant transmission of acrodysostosis.
Clinical dysmorphology 1992;1(4):201-6.
1992: M A Cantrell; J S Bogan; E Simpson; J N Bicknell; E Goulmy; P Chandler; Roberta A Pagon; D C Walker; H C Thuline; J M Graham
Deletion mapping of H-Y antigen to the long arm of the human Y chromosome.
Genomics 1992;13(4):1255-60.
1992: Karen Stephens; L Kayes; V M Riccardi; M Rising; V P Sybert; Roberta A Pagon
Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes.
Human genetics 1992;88(3):279-82.
1991: S R Hingorani; Roberta A Pagon; Thomas H Shepard; Raj P Kapur
Twin fetuses with abnormalities that overlap with three midline malformation complexes.
American journal of medical genetics 1991;41(2):230-5.
1991: T D Wardinsky; Roberta A Pagon; R J Kropp; P W Hayden; Sterling K Clarren
Nasal dermoid sinus cysts: association with intracranial extension and multiple malformations.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 1991;28(1):87-95.
1990: Cary O Harding; Roberta A Pagon
Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma.
American journal of medical genetics 1990;37(4):443-6.
1990: T D Wardinsky; Roberta A Pagon; B R Powell; B McGillivray; M Stephan; Jonathan (Jon) Zonana; Ann B Moser
Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports.
Clinical genetics 1990;38(2):84-93.
1990: Virginia P Sybert; Roberta A Pagon; M Donlan; C M Bradley
Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito.
The Journal of pediatrics 1990;116(4):581-6.
1990: T D Wardinsky; E Weinberger; Roberta A Pagon; Sterling K Clarren; H C Thuline
Partial deletion of the long arm of chromosome 11 [del(11)(q23.3----qter)] with abnormal white matter.
American journal of medical genetics 1990;35(1):60-3.
1989: M A Cantrell; J N Bicknell; Roberta A Pagon; David C Page; D C Walker; H M Saal; A B Zinn; Christine M Disteche
Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe.
Human genetics 1989;83(1):88-92.
1988: M Drummond-Borg; Roberta A Pagon; C M Bradley; J Nordlund; D Salk
Nonfluorescent dicentric Y in males with hypospadias.
The Journal of pediatrics 1988;113(3):469-73.
1986: C M Disteche; L Brown; H Saal; C Friedman; H C Thuline; D I Hoar; Roberta A Pagon; D C Page
Molecular detection of a translocation (Y;15) in a 45,X male.
Human genetics 1986;74(4):372-7.