Carolyn Brown

发表

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

Denise L. Perry, Vladimir G. Gainullin, S. S. Ajay, 2019, npj Genomic Medicine.

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

Denise L. Perry, S. S. Ajay, D. Bentley, 2018, Genetics in Medicine.

Analysis of the ABCA4 gene by next-generation sequencing.

P. Gouras, S. Tsang, G. Fishman, 2011, Investigative ophthalmology & visual science.

Analysis of the ABCA 4 Gene by Next-Generation Sequencing

P. Gouras, S. Tsang, G. Fishman, 2011 .

A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships

Denise L. Perry, R. Taft, A. Coffey, 2022, Human mutation.

Phelan-McDermid Syndrome Presenting as a Puzzling Case of Regressive Autism

J. Cross, Carolyn Brown, L. Cohen, 2015 .

PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing

Denise L. Perry, K. Devriendt, R. Taft, 2022, American journal of medical genetics. Part A.

Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population

M. Bitner-Glindzicz, I. Ebermann, I. Lopez, 2007, Genome Biology.

Relationship of XIST expression and responses of ovarian cancer to chemotherapy.

Shu-Kay Ng, Edith Heard, Ross S Berkowitz, 2002, Molecular cancer therapeutics.

Acquired TNFRSF14 mutations in follicular lymphoma are associated with worse prognosis.

R. Gascoyne, J. Connors, S. Ben-Neriah, 2010, Cancer research.

Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

Denise L. Perry, D. Bentley, R. Taft, 2023, Cell genomics.

Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease

Stephen Tanner, Tina Hambuch, Sergii Ivakhno, 2018, bioRxiv.

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

D. Bentley, M. Eberle, J. Belmont, 2018, Genetics in Medicine.

X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3

A. Bayat, Marilyn C. Jones, B. Gérard, 2021, PLoS genetics.

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

D. Bentley, J. Belmont, R. Taft, 2019, npj Genomic Medicine.

A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships

Denise L. Perry, R. Taft, A. Coffey, 2021, Human mutation.