FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Catherine Stolle

Research Profile

Chemicals & Drugs

Disorders

Procedures

DNA Mutational Analysis

Physiology

Living Beings

Anatomy

Chromosomes, Human, Pair 7

Co-author Network

Publications

TOP 3
Kai Wang; Samuel P Dickson; Catherine Stolle; Ian D Krantz; David B Goldstein; Hakon Hakonarson
Interpretation of association signals and identification of causal variants from genome-wide association studies.
Dinah Yaeger; jennifer mccallum; Kathy Lewis; Lisa Soslow; Udayan Shah; William Potsic; Catherine Stolle; Ian D Krantz
Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic.
John B Mulliken; Karen W Gripp; Catherine Stolle; Daniela Steinberger; Ulrich Müller
Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis).

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 Catherine Stolle (preview)

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

Flash Player Required

All Publications

2010: Kai Wang; Samuel P Dickson; Catherine Stolle; Ian D Krantz; David B Goldstein; Hakon Hakonarson
Interpretation of association signals and identification of causal variants from genome-wide association studies.
American journal of human genetics 2010;86(5):730-42.
2006: Dinah Yaeger; jennifer mccallum; Kathy Lewis; Lisa Soslow; Udayan Shah; William Potsic; Catherine Stolle; Ian D Krantz
Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic.
American journal of medical genetics. Part A 2006;140(8):827-36.
2004: John B Mulliken; Karen W Gripp; Catherine Stolle; Daniela Steinberger; Ulrich Müller
Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis).
Plastic and reconstructive surgery 2004;113(7):1899-909.
2003: Elaine H Zackai; Donna M McDonald-McGinn; Catherine Stolle; Dale S Huff
Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found.
Clinical dysmorphology 2003;12(3):209.
2002: Binita M Kamath; Catherine Stolle; Lynn Bason; Raymond P Colliton; David A Piccoli; Nancy B Spinner; Ian D Krantz
Craniosynostosis in Alagille syndrome.
American journal of medical genetics 2002;112(2):176-80.
2001: Karen W Gripp; V Kasparcova; Donna M McDonald-McGinn; S Bhatt; Scott P Bartlett; A L Storm; T C Drumheller; Beverly S Emanuel; Elaine H Zackai; Catherine Stolle
A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(2):102-8.
2000: Elaine H Zackai; Karen W Gripp; Catherine Stolle
Craniosynostosis: molecular testing-a necessity for counseling.
American journal of medical genetics 2000;92(2):157.
2000: M L McCormack; Rodney P Guttmann; M Schumann; Jennifer M Farmer; Catherine Stolle; V Campuzano; M Koenig; David R Lynch
Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features.
Journal of neurology, neurosurgery, and psychiatry 2000;68(5):661-4.
2000: Karen W Gripp; Elaine H Zackai; Catherine Stolle
Mutations in the human TWIST gene.
Human mutation 2000;15(2):150-5.
1999: Karen W Gripp; Catherine Stolle; L Celle; Donna M McDonald-McGinn; Linton A Whitaker; Elaine H Zackai
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.
American journal of medical genetics 1999;82(2):170-6.
1998: Elaine H Zackai; Catherine Stolle
A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome.
American journal of human genetics 1998;63(5):1277-81.
1998: Karen W Gripp; Catherine Stolle; Donna M McDonald-McGinn; Richard Markowitz; Scott P Bartlett; James A Katowitz; Maximilian Muenke; Elaine H Zackai
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
American journal of medical genetics 1998;78(4):356-60.