Kristin Baranano

Assistant Professor

20082019
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Fingerprint Dive into the research topics where Kristin Baranano is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 5 Similar Profiles
Leukoencephalopathies Medicine & Life Sciences
Mutation Medicine & Life Sciences
Cerebral Small Vessel Diseases Medicine & Life Sciences
Muscle Hypotonia Medicine & Life Sciences
Exome Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Seizures Medicine & Life Sciences
Demyelinating Diseases Medicine & Life Sciences

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Research Output 2008 2019

Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018

Kline, A. D., Krantz, I. D., Bando, M., Shirahige, K., Chea, S., Sakata, T., Rao, S., Dorsett, D., Singh, V. P., Gerton, J. L., Horsfield, J. A., Calof, A. L., Katz, O., Grados, M., Raible, S., Baranano, K., Lyon, G., Musio, A., Carrico, C. S., Clemens, D. K. & 6 others, Caudill, P., Massa, V., McGill, B. E., Dommestrup, A., O'Connor, J. T. & Haaland, R. E., Jun 1 2019, In : American Journal of Medical Genetics, Part A. 179, 6, p. 1080-1090 11 p.

Research output: Contribution to journalArticle

De Lange Syndrome
Mutation
Microcephaly
Ethics Committees
Baltimore

Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1

Mu, W., Tochen, L., Bertsch, C., Singer, H. & Baranano, K., May 1 2019, In : BMJ case reports. 12, 5, e228782.

Research output: Contribution to journalArticle

Chromosome Deletion
Dystonia
Movement Disorders
Brain
Microarray Analysis

Ataxia

Baranano, K., Jan 1 2018, The 5-Minute Pediatric Consult, 8th Edition. Wolters Kluwer Health, p. 78-79 2 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Ataxia

Monogenic disorders that mimic the phenotype of Rett syndrome

Srivastava, S., Desai, S., Cohen, J., Smith-Hicks, C. L., Baranano, K., Fatemi, A. & Naidu, S., Jan 10 2018, (Accepted/In press) In : Neurogenetics. p. 1-7 7 p.

Research output: Contribution to journalArticle

Rett Syndrome
Methyl-CpG-Binding Protein 2
Phenotype
Exome
Hand

Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Jenkinson, E. M., Rodero, M. P., Kasher, P. R., Uggenti, C., Oojageer, A., Goosey, L. C., Rose, Y., Kershaw, C. J., Urquhart, J. E., Williams, S. G., Bhaskar, S. S., O'Sullivan, J., Baerlocher, G. M., Haubitz, M., Aubert, G., Baranano, K., Barnicoat, A. J., Battini, R., Berger, A., Blair, E. M. & 46 others, Brunstrom-Hernandez, J. E., Buckard, J. A., Cassiman, D. M., Caumes, R., Cordelli, D. M., De Waele, L. M., Fay, A. J., Ferreira, P., Fletcher, N. A., Fryer, A. E., Goel, H., Hemingway, C. A., Henneke, M., Hughes, I., Jefferson, R. J., Kumar, R., Lagae, L., Landrieu, P. G., Lourenço, C. M., Malpas, T. J., Mehta, S. G., Metz, I., Naidu, S., Õunap, K., Panzer, A., Prabhakar, P., Quaghebeur, G., Schiffmann, R., Sherr, E. H., Sinnathuray, K. R., Soh, C., Stewart, H. S., Stone, J., Van Esch, H., Van Mol, C. E. G., Vanderver, A., Wakeling, E. L., Whitney, A., Pavitt, G. D., Griffiths-Jones, S., Rice, G. I., Revy, P., van der Knaap, M. S., Livingston, J. H., O'Keefe, R. T. & Crow, Y. J., Jan 31 2017, In : Nature genetics. 49, 2, 1 p.

Research output: Contribution to journalComment/debate

Open Access
Cerebral Small Vessel Diseases
Leukoencephalopathies
Cysts
Mutation
corrigendum