Catherine A. Brownstein, Ph.D.
Affiliations: | 2008 | Yale University, New Haven, CT |
Area:
GeneticsGoogle:
"Catherine Brownstein"Parents
Sign in to add mentor| Richard P. Lifton | grad student | 2008 | Yale | |
| (Klotho, a novel gene in phosphate metabolism.) | ||||
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Publications
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| Rockowitz S, LeCompte N, Carmack M, et al. (2020) Children's rare disease cohorts: an integrative research and clinical genomics initiative. Npj Genomic Medicine. 5: 29 |
| Keywan C, Holm IA, Poduri A, et al. (2020) A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood. European Journal of Medical Genetics. 104002 |
| Edward HL, D'Gama AM, Wojcik MH, et al. (2019) A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. American Journal of Medical Genetics. Part A |
| Schmitz-Abe K, Li Q, Rosen SM, et al. (2019) Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. European Journal of Human Genetics : Ejhg |
| Deisseroth CA, Birgmeier J, Bodle EE, et al. (2018) ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Mavros CF, Brownstein CA, Thyagrajan R, et al. (2018) De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. Bmc Medical Genetics. 19: 197 |
| Wojcik MH, Okada K, Prabhu SP, et al. (2018) De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. American Journal of Medical Genetics. Part A |
| Torres A, Brownstein CA, Tembulkar SK, et al. (2018) and compound heterozygous mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. Molecular Genetics and Metabolism Reports. 16: 23-29 |
| Brownstein CA, Goldstein RD, Thompson CH, et al. (2018) SCN1A variants associated with sudden infant death syndrome. Epilepsia. 59: e56-e62 |
| Küry S, van Woerden GM, Besnard T, et al. (2017) De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. American Journal of Human Genetics. 101: 768-788 |