Year |
Citation |
Score |
2012 |
Bluske KK, Vue TY, Kawakami Y, Taketo MM, Yoshikawa K, Johnson JE, Nakagawa Y. β-Catenin signaling specifies progenitor cell identity in parallel with Shh signaling in the developing mammalian thalamus. Development (Cambridge, England). 139: 2692-702. PMID 22745311 DOI: 10.1242/Dev.072314 |
0.566 |
|
2011 |
Wang L, Bluske KK, Dickel LK, Nakagawa Y. Basal progenitor cells in the embryonic mouse thalamus - their molecular characterization and the role of neurogenins and Pax6. Neural Development. 6: 35. PMID 22077982 DOI: 10.1186/1749-8104-6-35 |
0.67 |
|
2009 |
Bluske KK, Kawakami Y, Koyano-Nakagawa N, Nakagawa Y. Differential activity of Wnt/beta-catenin signaling in the embryonic mouse thalamus. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 238: 3297-309. PMID 19924825 DOI: 10.1002/Dvdy.22167 |
0.686 |
|
2009 |
Vue TY, Bluske K, Alishahi A, Yang LL, Koyano-Nakagawa N, Novitch B, Nakagawa Y. Sonic hedgehog signaling controls thalamic progenitor identity and nuclei specification in mice. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 29: 4484-97. PMID 19357274 DOI: 10.1523/Jneurosci.0656-09.2009 |
0.561 |
|
2009 |
Bluske KK, Nakagawa Y. Role of the homeodomain transcription factor Dbx1 in patterning the developing diencephalon Developmental Biology. 331: 524. DOI: 10.1016/J.Ydbio.2009.05.511 |
0.55 |
|
Low-probability matches (unlikely to be authored by this person) |
2015 |
Gil-Sanz C, Espinosa A, Fregoso SP, Bluske KK, Cunningham CL, Martinez-Garay I, Zeng H, Franco SJ, Müller U. Lineage Tracing Using Cux2-Cre and Cux2-CreERT2 Mice. Neuron. 86: 1091-9. PMID 25996136 DOI: 10.1016/J.Neuron.2015.04.019 |
0.234 |
|
2021 |
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, ... ... Bluske K, et al. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. American Journal of Human Genetics. PMID 33596411 DOI: 10.1016/j.ajhg.2021.01.015 |
0.117 |
|
2018 |
Emrick LT, Rosenfeld JA, Lalani SR, Jain M, Desai NK, Larson A, Kripps K, Vanderver A, Taft RJ, Bluske K, Perry D, Nagakura H, Immken LL, Burrage LC, Bacino CA, et al. Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30568308 DOI: 10.1038/S41436-018-0358-0 |
0.093 |
|
2023 |
Chandrasekhar A, Mroczkowski HJ, Urraca N, Gross A, Bluske K, Thorpe E, Hagelstrom RT, Schonberg SA, Perry DL, Taft RJ, Kesari A. Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes. American Journal of Medical Genetics. Part A. PMID 37929330 DOI: 10.1002/ajmg.a.63462 |
0.089 |
|
2022 |
Riggs ER, Bingaman TI, Barry CA, Behlmann A, Bluske K, Bostwick B, Bright A, Chen CA, Clause AR, Dharmadhikari AV, Ganapathi M, Gonzaga-Jauregui C, Grant AR, Hughes MY, Kim SR, et al. Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 35616647 DOI: 10.1016/j.gim.2022.05.001 |
0.078 |
|
2021 |
Rosano KK, Wegner DJ, Shinawi M, Baldridge D, Bucelli RC, Dahiya S, White FV, Willing MC, McAllister W, Taft RJ, Bluske K, Buchanan A, Cole FS, Wambach JA. Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2). American Journal of Medical Genetics. Part A. PMID 33931933 DOI: 10.1002/ajmg.a.62219 |
0.054 |
|
2023 |
Clause AR, Taylor JP, Rajkumar R, Bluske K, Bennett M, Amendola LM, Bentley DR, Taft RJ, Perry DL, Coffey AJ. Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases. Cell Genomics. 3: 100258. PMID 36819666 DOI: 10.1016/j.xgen.2023.100258 |
0.043 |
|
2022 |
Makay P, Mubungu G, Mupuala A, Bluske K, Brown C, Schmidt SA, Ngole M, Fuanani P, Perry DL, Lukusa P, Devriendt K, Taft RJ, Lumaka A. PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing. American Journal of Medical Genetics. Part A. PMID 35670385 DOI: 10.1002/ajmg.a.62855 |
0.041 |
|
2023 |
McCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D, Harding B, Alves CAPF, Ardissone A, Bai R, de Barcelos IP, Bertini E, Bluske K, Christodoulou J, Clause AR, et al. Expert panel curation of 113 primary mitochondrial disease genes for the Leigh syndrome spectrum. Annals of Neurology. PMID 37255483 DOI: 10.1002/ana.26716 |
0.039 |
|
2018 |
Gross AM, Ajay SS, Rajan V, Brown C, Bluske K, Burns NJ, Chawla A, Coffey AJ, Malhotra A, Scocchia A, Thorpe E, Dzidic N, Hovanes K, Sahoo T, Dolzhenko E, et al. Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30293986 DOI: 10.1038/S41436-018-0295-Y |
0.02 |
|
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