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Carolyn M. Wilson
Observed names:
Carolyn M Wilson,
Carolyn Wilson
Observed institutions:
Mission Health,
Australian Red Cross Lifeblood
OpenAlex ID:
A5046931765
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
2007
·
Kit Sing Au
, Aimee T. Williams
, et al.
·
Genetics in Medicine
·
461
PDF
American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing
2013
·
Catherine W. Rehder
, Karen L. David
, et al.
·
Genetics in Medicine
·
160
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
2018
·
Carol-Anne Martin
, Kata Sarlós
, et al.
·
The American Journal of Human Genetics
·
102
PDF
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies
2019
·
Konrad Platzer
, Heinrich Sticht
, et al.
·
The American Journal of Human Genetics
·
70
PDF
A novel GATA 1 mutation ( S top414 A rg) in a family with the rare X ‐linked blood group L u(a‐b‐) phenotype and mild macrothrombocytic thrombocytopenia
2012
·
Belinda K. Singleton
, David J. Roxby
, et al.
·
British Journal of Haematology
·
33
PDF
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
2023
·
Zelha Nil
, Ashish R. Deshwar
, et al.
·
The American Journal of Human Genetics
·
14
PDF
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
2018
·
Carol-Anne Martin
, Kata Sarlós
, et al.
·
The American Journal of Human Genetics
·
12
PDF
A Novel GATA1 Mutation (Ter414Arg) in a Family with the Rare X-Linked Blood Group Lu(a-b-) Phenotype.
2009
·
Belinda K Singleton
, David Roxby
, et al.
·
Blood
·
9
Implementing a Personalized Medicine Cancer Program in a Community Cancer System
2019
·
Lynn G Dressler
, Gillian C Bell
, et al.
·
Personalized Medicine
·
7
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
2024
·
Carol-Anne Martin
, Kata Sarlós
, et al.
·
The American Journal of Human Genetics
·
2
14. Prenatal diagnosis of Acrofacial Dysostosis type 1 (Nager syndrome) by chromosomal microarray at the exon level
2021
·
Holli M. Drendel
, Carolyn Wilson
, et al.
·
Cancer Genetics
·
1
Response to Rosenberg et al.
2013
·
Catherine W. Rehder
, Karen L. David
, et al.
·
Genetics in Medicine
·
1
PDF
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Works count:
12
Citation count:
872
H-index:
8
I10-index:
7
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