Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders
Kong, Sek Won, Collins, Christin D, Shimizu-Motohashi, Yuko, Holm, Ingrid A, Campbell, Malcolm G, Lee, In-Hee, Brewster, Stephanie J, Hanson, Ellen, Harris, Heather K, Lowe, Kathryn R, Saada, Adrianna, Mora, Andrea, Madison, Kimberly, Hundley, Rachel, Egan, Jessica, McCarthy, Jillian, Eran, Ally, Galdzicki, Michal, Rappaport, Leonard, Kunkel, Louis M, Kohane, Isaac S
Published in PloS one (05.12.2012)
Published in PloS one (05.12.2012)
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Journal Article
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach
Harrison, Steven M., Dolinksy, Jill S., Chen, Wenjie, Collins, Christin D., Das, Soma, Deignan, Joshua L., Garber, Kathryn B., Garcia, John, Jarinova, Olga, Knight Johnson, Amy E., Koskenvuo, Juha W., Lee, Hane, Mao, Rong, Mar‐Heyming, Rebecca, McFaddin, Andrew S., Moyer, Krista, Nagan, Narasimhan, Rentas, Stefan, Santani, Avni B., Seppälä, Eija H., Shirts, Brian H., Tidwell, Timothy, Topper, Scott, Vincent, Lisa M., Vinette, Kathy, Rehm, Heidi L.
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Journal Article
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features
Sanchez, Rossana L, Yan, Jiong, Richards, Sarah, Mierau, Gary, Wartchow, Eric P, Collins, Christin D, Shankar, Suma P
Published in American journal of ophthalmology case reports (01.12.2016)
Published in American journal of ophthalmology case reports (01.12.2016)
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Journal Article
The role of clinical response to treatment in determining pathogenicity of genomic variants
Shen, Joseph J., Wortmann, Saskia B., de Boer, Lonneke, Kluijtmans, Leo A. J., Huigen, Marleen C. D. G., Koch, Johannes, Ross, Stephanie, Collins, Christin D., van der Lee, Robin, van Karnebeek, Clara D. M., Hegde, Madhuri R.
Published in Genetics in medicine (01.03.2021)
Published in Genetics in medicine (01.03.2021)
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Journal Article
Response to Biesecker et al
Shen, Joseph J., Wortmann, Saskia B., Kluijtmans, Leo A. J., Collins, Christin D., van der Lee, Robin, van Karnebeek, Clara D. M., Hegde, Madhuri R.
Published in Genetics in medicine (01.04.2021)
Published in Genetics in medicine (01.04.2021)
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Journal Article
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
Riggs, Erin R., Nelson, Tristan, Merz, Andrew, Ackley, Todd, Bunke, Brian, Collins, Christin D., Collinson, Morag N., Fan, Yao‐Shan, Goodenberger, McKinsey L., Golden, Denae M., Haglund‐Hazy, Linda, Krgovic, Danijela, Lamb, Allen N., Lewis, Zoe, Li, Guang, Liu, Yajuan, Meck, Jeanne, Neufeld‐Kaiser, Whitney, Runke, Cassandra K., Sanmann, Jennifer N., Stavropoulos, Dimitri J., Strong, Emma, Su, Meng, Tayeh, Marwan K., Kokalj Vokac, Nadja, Thorland, Erik C., Andersen, Erica, Martin, Christa L.
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Journal Article
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features
Tonduti, Davide, Vanderver, Adeline, Berardinelli, Angela, Schmidt, Johanna L, Collins, Christin D, Novara, Francesca, Genni, Antonia Di, Mita, Alda, Triulzi, Fabio, Brunstrom-Hernandez, Janice E, Zuffardi, Orsetta, Balottin, Umberto, Orcesi, Simona
Published in Journal of child neurology (01.06.2013)
Published in Journal of child neurology (01.06.2013)
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Journal Article
P389: Real-world evidence demonstrating why genome sequencing should be recommended as the first-tier genetic test
Guo, Fen, Liu, Ruby, Pan, Yinghong, Collins, Christin D., Bean, Lora, Reddy Nallamilli, Babi Ramesh, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Chin, Ephrem, da Silva, Cristina, Mathur, Abhinav, Ma, Zeqiang, Balciuniene, Jorune, Hegde, Madhuri
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis
Kong, Sek Won, Sahin, Mustafa, Collins, Christin D, Wertz, Mary H, Campbell, Malcolm G, Leech, Jarrett D, Krueger, Dilja, Bear, Mark F, Kunkel, Louis M, Kohane, Isaac S
Published in Molecular autism (24.02.2014)
Published in Molecular autism (24.02.2014)
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Journal Article
Gene expression associated with interferon alfa antiviral activity in an HCV replicon cell line
Zhu, Haizhen, Zhao, Hongshan, Collins, Christin D., Eckenrode, Sarah E., Run, Qingguo, McIndoe, Richard A., Crawford, James M., Nelson, David R., She, Jin-Xiong, Liu, Chen
Published in Hepatology (Baltimore, Md.) (01.05.2003)
Published in Hepatology (Baltimore, Md.) (01.05.2003)
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Journal Article
Molecular Pathways Altered by Insulin B9-23 Immunization
ECKENRODE, SARAH E., RUAN, QING-GUO, COLLINS, CHRISTIN D., YANG, PING, MCINDOE, RICHARD A., MUIR, ANDREW, SHE, JIN-XIONG
Published in Annals of the New York Academy of Sciences (01.12.2004)
Published in Annals of the New York Academy of Sciences (01.12.2004)
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Journal Article
Genome and exome analysis for detection of coding and non-coding sequencing and copy number variants in disorders of sexual development
Behlmann, Andrea, Reddy Nallamilli, Babi Ramesh, Collins, Christin D., Stansberry, Leah, Hegde, Madhuri
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
eP394 - Genome and exome analysis for detection of coding and non-coding sequencing and copy number variants in disorders of sexual development
Behlmann, Andrea, Reddy Nallamilli, Babi Ramesh, Collins, Christin D., Stansberry, Leah, Hegde, Madhuri
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features
Sanchez, Rossana L, Yan, Jiong, Richards, Sarah, Mierau, Gary, Wartchow, Eric P, Collins, Christin D, Shankar, Suma P
Published in American journal of ophthalmology case reports (01.12.2016)
Published in American journal of ophthalmology case reports (01.12.2016)
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