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Catherine A. Brownstein, Ph.D. - Publications

Affiliations: 
2008 Yale University, New Haven, CT 
Area:
Genetics
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27 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Rockowitz S, LeCompte N, Carmack M, Quitadamo A, Wang L, Park M, Knight D, Sexton E, Smith L, Sheidley B, Field M, Holm IA, Brownstein CA, Agrawal PB, Kornetsky S, et al. Children's rare disease cohorts: an integrative research and clinical genomics initiative. Npj Genomic Medicine. 5: 29. PMID 32655885 DOI: 10.1038/S41525-020-0137-0  0.32
2020 Keywan C, Holm IA, Poduri A, Brownstein CA, Alexandrescu S, Chen J, Geffre C, Goldstein RD. A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood. European Journal of Medical Genetics. 104002. PMID 32652122 DOI: 10.1016/J.Ejmg.2020.104002  0.349
2019 Edward HL, D'Gama AM, Wojcik MH, Brownstein CA, Kenna MA, Grant PE, Majzoub JA, Agrawal PB. A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. American Journal of Medical Genetics. Part A. PMID 31012281 DOI: 10.1002/Ajmg.A.61150  0.337
2019 Schmitz-Abe K, Li Q, Rosen SM, Nori N, Madden JA, Genetti CA, Wojcik MH, Ponnaluri S, Gubbels CS, Picker JD, O'Donnell-Luria AH, Yu TW, Bodamer O, Brownstein CA, Beggs AH, et al. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. European Journal of Human Genetics : Ejhg. PMID 30979967 DOI: 10.1038/S41431-019-0401-X  0.344
2018 Deisseroth CA, Birgmeier J, Bodle EE, Kohler JN, Matalon DR, Nazarenko Y, Genetti CA, Brownstein CA, Schmitz-Abe K, Schoch K, Cope H, Signer R, Martinez-Agosto JA, Shashi V, et al. 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. PMID 30514889 DOI: 10.1038/S41436-018-0381-1  0.357
2018 Mavros CF, Brownstein CA, Thyagrajan R, Genetti CA, Tembulkar S, Graber K, Murphy Q, Cabral K, VanNoy GE, Bainbridge M, Shi J, Agrawal PB, Beggs AH, D'Angelo E, Gonzalez-Heydrich J. 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. PMID 30424743 DOI: 10.1186/S12881-018-0711-9  0.3
2018 Wojcik MH, Okada K, Prabhu SP, Nowakowski DW, Ramsey K, Balak C, Rangasamy S, Brownstein CA, Schmitz-Abe K, Cohen JS, Fatemi A, Shi J, Grant EP, Narayanan V, Ho HH, et al. De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. American Journal of Medical Genetics. Part A. PMID 30151950 DOI: 10.1002/Ajmg.A.40493  0.318
2018 Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, et al. 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. PMID 29922587 DOI: 10.1016/J.Ymgmr.2018.06.001  0.382
2018 Brownstein CA, Goldstein RD, Thompson CH, Haynes RL, Giles E, Sheidley B, Bainbridge M, Haas EA, Mena OJ, Lucas J, Schaber B, Holm IA, George AL, Kinney HC, Poduri AH. SCN1A variants associated with sudden infant death syndrome. Epilepsia. 59: e56-e62. PMID 29601086 DOI: 10.1111/Epi.14055  0.323
2017 Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, ... ... Brownstein CA, et al. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. American Journal of Human Genetics. 101: 768-788. PMID 29100089 DOI: 10.1016/J.Ajhg.2017.10.003  0.534
2017 Cao S, Smith LL, Padilla-Lopez SR, Guida BS, Blume E, Shi J, Morton SU, Brownstein CA, Beggs AH, Kruer MC, Agrawal PB. Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. Human Molecular Genetics. 26: 3545-3552. PMID 28911200 DOI: 10.1093/Hmg/Ddx239  0.361
2016 Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, et al. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. Journal of Human Genetics. PMID 27708273 DOI: 10.1038/Jhg.2016.116  0.38
2016 Mehta P, Küspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, Piao X, Agrawal PB. Novel Mutation in CNTNAP1 results in Congenital Hypomyelinating Neuropathy. Muscle & Nerve. PMID 27668699 DOI: 10.1002/Mus.25416  0.325
2016 Brownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, Yu TW, Beggs AH, Picker J, Fogler JM, Carroll D, Schmitt RC, Wolff RR, Shen Y, Lip V, Bilguvar K, et al. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. American Journal of Medical Genetics. Part A. PMID 26887912 DOI: 10.1002/Ajmg.A.37595  0.321
2016 Peter PR, Brownstein CA, Yao G, Olear EA, Simpson CA, Agrawal PB, Carpenter TO, Insogna KL. An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis Aace Clinical Case Reports. 2. DOI: 10.4158/Ep15944.Cr  0.398
2015 Brownstein CA, Beggs AH, Rodan L, Shi J, Towne MC, Pelletier R, Cao S, Rosenberg PA, Urion DK, Picker J, Tan WH, Agrawal PB. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. PMID 26395884 DOI: 10.1007/S10048-015-0460-2  0.396
2015 Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, et al. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Human Mutation. 36: 915-21. PMID 26295439 DOI: 10.1002/Humu.22858  0.336
2015 Brownstein CA, Holm IA, Ramoni R, Goldstein DB. Data Sharing in the Undiagnosed Diseases Network. Human Mutation. 36: 985-8. PMID 26220576 DOI: 10.1002/Humu.22840  0.301
2015 Russell B, Johnston JJ, Biesecker LG, Kramer N, Pickart A, Rhead W, Tan WH, Brownstein CA, Kate Clarkson L, Dobson A, Rosenberg AZ, Schrier Vergano SA, Helm BM, Harrison RE, Graham JM. Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. American Journal of Medical Genetics. Part A. PMID 25921057 DOI: 10.1002/Ajmg.A.37131  0.352
2014 Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, ... ... Brownstein CA, et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of Clinical Investigation. 124: 4693-708. PMID 25250574 DOI: 10.1172/Jci75199  0.335
2014 Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biology. 15: R53. PMID 24667040 DOI: 10.1186/Gb-2014-15-3-R53  0.341
2013 Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, ... ... Brownstein CA, et al. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. American Journal of Human Genetics. 93: 1108-17. PMID 24268659 DOI: 10.1016/J.Ajhg.2013.10.020  0.378
2013 Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. European Journal of Medical Genetics. 56: 678-82. PMID 24176758 DOI: 10.1016/J.Ejmg.2013.09.009  0.354
2013 Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, ... ... Brownstein CA, et al. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. American Journal of Human Genetics. 93: 6-18. PMID 23746549 DOI: 10.1016/J.Ajhg.2013.05.004  0.38
2012 Brownstein C, Fusaro VA, Savage S, Clinton C, Mandl K, Margulies D, Wolf W, Manzi S. Integration of a standardized pharmacogenomic platform for clinical decision support at Boston Children's Hospital Bmc Proceedings. 6. DOI: 10.1186/1753-6561-6-S6-P5  0.312
2010 Brownstein CA, Zhang J, Stillman A, Ellis B, Troiano N, Adams DJ, Gundberg CM, Lifton RP, Carpenter TO. Increased bone volume and correction of HYP mouse hypophosphatemia in the Klotho/HYP mouse. Endocrinology. 151: 492-501. PMID 19952276 DOI: 10.1210/En.2009-0564  0.425
2008 Brownstein CA, Adler F, Nelson-Williams C, Iijima J, Li P, Imura A, Nabeshima Y, Reyes-Mugica M, Carpenter TO, Lifton RP. A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proceedings of the National Academy of Sciences of the United States of America. 105: 3455-60. PMID 18308935 DOI: 10.1073/Pnas.0712361105  0.432
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