Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype
Koenighofer, M., Hung, C. Y., McCauley, J. L., Dallman, J., Back, E. J., Mihalek, I., Gripp, K. W., Sol-Church, K., Rusconi, P., Zhang, Z., Shi, G-X., Andres, D. A., Bodamer, O. A.
Published in Clinical genetics (01.03.2016)
Published in Clinical genetics (01.03.2016)
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Journal Article
Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder
Morlet, T., Robbins, KM, Stabley, D., Holbrook, J., Sol-Church, K., O'Reilly, RC
Published in Otolaryngology case reports (01.11.2021)
Published in Otolaryngology case reports (01.11.2021)
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Journal Article
High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density
Zhang, H, Sol-Church, K, Rydbeck, H, Stabley, D, Spotila, L. D, Devoto, M
Published in Osteoporosis international (01.02.2009)
Published in Osteoporosis international (01.02.2009)
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Journal Article
Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk
Turner, Adam W., Hu, Shengen Shawn, Mosquera, Jose Verdezoto, Ma, Wei Feng, Hodonsky, Chani J., Wong, Doris, Auguste, Gaëlle, Song, Yipei, Sol-Church, Katia, Farber, Emily, Kundu, Soumya, Kundaje, Anshul, Lopez, Nicolas G., Ma, Lijiang, Ghosh, Saikat Kumar B., Onengut-Gumuscu, Suna, Ashley, Euan A., Quertermous, Thomas, Finn, Aloke V., Leeper, Nicholas J., Kovacic, Jason C., Björkegren, Johan L. M., Zang, Chongzhi, Miller, Clint L.
Published in Nature genetics (01.06.2022)
Published in Nature genetics (01.06.2022)
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Journal Article
Evolution of Placental Proteases
Mason, R. W., Stabley, D. L., Picerno, G. N., Frenck, J., Xing, S., Bertenshaw, G. P., Sol-Church, K.
Published in Biological chemistry (01.07.2002)
Published in Biological chemistry (01.07.2002)
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Journal Article
Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk (vol 54, pg 804, 2022)
Turner, AW, Hu, SS, Mosquera, JV, Ma, WF, Hodonsky, CJ, Wong, D, Auguste, G, Song, Y, Sol-Church, K, Farber, E
Published in NATURE GENETICS (01.08.2022)
Published in NATURE GENETICS (01.08.2022)
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Publication
Author Correction: Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk
Turner, Adam W., Hu, Shengen Shawn, Mosquera, Jose Verdezoto, Ma, Wei Feng, Hodonsky, Chani J., Wong, Doris, Auguste, Gaëlle, Song, Yipei, Sol-Church, Katia, Farber, Emily, Kundu, Soumya, Kundaje, Anshul, Lopez, Nicolas G., Ma, Lijiang, Ghosh, Saikat Kumar B., Onengut-Gumuscu, Suna, Ashley, Euan A., Quertermous, Thomas, Finn, Aloke V., Leeper, Nicholas J., Kovacic, Jason C., Björkegren, Johan L. M., Zang, Chongzhi, Miller, Clint L.
Published in Nature genetics (01.08.2022)
Published in Nature genetics (01.08.2022)
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Journal Article
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome
Gripp, Karen W., Robbins, Katherine M., Sobreira, Nara L., Witmer, P. Dane, Bird, Lynne M., Avela, Kristiina, Makitie, Outi, Alves, Daniela, Hogue, Jacob S., Zackai, Elaine H., Doheny, Kimberly F., Stabley, Deborah L., Sol-Church, Katia
Published in American journal of medical genetics. Part A (01.02.2015)
Published in American journal of medical genetics. Part A (01.02.2015)
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Journal Article
HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation
Gripp, Karen W., Lin, Angela E., Stabley, Deborah L., Nicholson, Linda, Scott Jr, Charles I., Doyle, Daniel, Aoki, Yoko, Matsubara, Yoichi, Zackai, Elaine H., Lapunzina, Pablo, Gonzalez-Meneses, Antonio, Holbrook, Jennifer, Agresta, Cynthia A., Gonzalez, Iris L., Sol-Church, Katia
Published in American journal of medical genetics. Part A (01.01.2006)
Published in American journal of medical genetics. Part A (01.01.2006)
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Journal Article
An Integrative Approach for Interpretation of Clinical NGS Genomic Variant Data
Stabley, D. L., Chen, C., Huang, H., Robbins, K., Polson, S., Sol-Church, K., Wu, C., Crowgey, E. L.
Published in Journal of biomolecular techniques (01.05.2014)
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Published in Journal of biomolecular techniques (01.05.2014)
Journal Article
Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory
Schwartz, David D., Katzenstein, Jennifer M., Hopkins, Elisabeth, Stabley, Deborah L., Sol-Church, Katia, Gripp, Karen W., Axelrad, Marni E.
Published in American journal of medical genetics. Part A (01.09.2013)
Published in American journal of medical genetics. Part A (01.09.2013)
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Journal Article
High resolution linkage and linkage disequilibrium analyses of chromosome lp36 SNPs identify new positional candidate genes for low bone mineral density
ZHANG, H, SOL-CHURCH, K, RYDBECK, H, STABLEY, D, SPOTILA, L. D, DEVOTO, M
Published in Osteoporosis international (2009)
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Published in Osteoporosis international (2009)
Journal Article
Expanding the SH0C2 Mutation Associated Phenotype of Noonan Syndrome With Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis
Gripp, K W, Zand, D J, Demmer, L, Anderson, CE, Dobyns, W B, Zackai, E H, Denenberg, E, Jenny, K, Stabley, D L, Sol-Church, K
Published in American journal of medical genetics. Part A (01.10.2013)
Published in American journal of medical genetics. Part A (01.10.2013)
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Journal Article
NERLSCD: A Model for Regional Networking of Life Sciences Core Directors
Detwiler, M., Thannhauser, T., Hunter, T., Adams, P.S., Bobin, S.A., Sol-Church, K., Spatrick, P., Perkins, S., Grills, G.S.
Published in Journal of biomolecular techniques (01.10.2011)
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Published in Journal of biomolecular techniques (01.10.2011)
Journal Article
Digital Gene Expression of miRNA in Osteosarcoma Xenografts: Finding Biological Relevance in miRNA High Throughput Sequencing Data
Stabley, D.L., Kamara, D., Holbrook, J., Sol-Church, K., Kolb, E.A., McCahan, S.M.
Published in Journal of biomolecular techniques (01.09.2010)
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Published in Journal of biomolecular techniques (01.09.2010)
Journal Article
NERLSCD: A Model for Regional Networking of Life Sciences Core Directors
Detwiler, M., Thannhauser, T., Hunter, T., Adams, P.S., Bobin, S.A., Sol-Church, K., Perkins, S., Grills, G.S.
Published in Journal of biomolecular techniques (01.09.2010)
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Published in Journal of biomolecular techniques (01.09.2010)
Journal Article
Nucleic Acid Research Group (NARG) 2009-2010 Study : Optimal Priming Strategies for cDNA Synthesis in Real-Time RT-qPCR
Hunter, T.C., Knudtson, K.L., Nadella, V., Sol-Church, K., Taylor, W.L., Tighe, S., Yueng, A.T., Chittur, S.
Published in Journal of biomolecular techniques (01.09.2010)
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Published in Journal of biomolecular techniques (01.09.2010)
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