Search Results - "Gibson, Kristin McDonald"

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing by Mandelker, Diana, Schmidt, Ryan J., Ankala, Arunkanth, McDonald Gibson, Kristin, Bowser, Mark, Sharma, Himanshu, Duffy, Elizabeth, Hegde, Madhuri, Santani, Avni, Lebo, Matthew, Funke, Birgit

“…Next-generation sequencing (NGS) is now routinely used to interrogate large sets of genes in a diagnostic setting. Regions of high sequence homology continue…”
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Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data by Gibson, Kristin McDonald, Nesbitt, Addie, Cao, Kajia, Yu, Zhenming, Denenberg, Elizabeth, DeChene, Elizabeth, Guan, Qiaoning, Bhoj, Elizabeth, Zhou, Xiangdong, Zhang, Bo, Wu, Chao, Dubbs, Holly, Wilkens, Alisha, Medne, Livija, Bedoukian, Emma, White, Peter S, Pennington, Jeffrey, Lou, Minjie, Conlin, Laura, Monos, Dimitri, Sarmady, Mahdi, Marsh, Eric, Zackai, Elaine, Spinner, Nancy, Krantz, Ian, Deardorff, Matt, Santani, Avni

“…Purpose The objective of this study was to assess the ability of our laboratory’s exome-sequencing test to detect known and novel sequence variants and…”
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Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? by Murrell, Jill R, Nesbitt, Addie May I, Baker, Samuel W, Pechter, Kieran B, Balciuniene, Jorune, Zhao, Xiaonan, Denenberg, Elizabeth H, DeChene, Elizabeth T, Wu, Chao, Jayaraman, Pushkala, Cao, Kajia, Gonzalez, Michael, Devoto, Marcella, Testori, Alessandro, Monos, John D, Dulik, Matthew C, Conlin, Laura K, Luo, Minjie, McDonald Gibson, Kristin, Guan, Qiaoning, Sarmady, Mahdi, Bhoj, Elizabeth, Helbig, Ingo, Zackai, Elaine H, Bedoukian, Emma C, Wilkens, Alisha, Tarpinian, Jennifer, Izumi, Kosuke, Skraban, Cara M, Deardorff, Matthew A, Medne, Livija, Krantz, Ian D, Krock, Bryan L, Santani, Avni B

“…Clinical exome sequencing (CES) aids in the diagnosis of rare genetic disorders. Herein, we report the molecular diagnostic yield and spectrum of genetic…”
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Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders by Nesbitt, Addie, Bhoj, Elizabeth J., McDonald Gibson, Kristin, Yu, Zhenming, Denenberg, Elizabeth, Sarmady, Mahdi, Tischler, Tanya, Cao, Kajia, Dubbs, Holly, Zackai, Elaine H., Santani, Avni

“…The SOX5 haploinsufficiency syndrome is characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct…”
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Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data by Gibson, Kristin McDonald, Nesbitt, Addie, Cao, Kajia, Yu, Zhenming, Denenberg, Elizabeth, DeChene, Elizabeth, Guan, Qiaoning, Bhoj, Elizabeth, Zhou, Xiangdong, Zhang, Bo, Wu, Chao, Dubbs, Holly, Wilkens, Alisha, Medne, Livija, Bedoukian, Emma, White, Peter S, Pennington, Jeffrey, Luo, Minjie, Conlin, Laura, Monos, Dimitri, Sarmady, Mahdi, Marsh, Eric, Zackai, Elaine, Spinner, Nancy, Krantz, Ian, Deardorff, Matt, Santani, Avni

“…In the published version of this article, the name of the 18th author was misspelled as Minjie Lou. The correct name is Minjie Luo. The authors regret the…”
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Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data by Gibson, Kristin McDonald, Nesbitt, Addie, Cao, Kajia, Yu, Zhenming, Denenberg, Elizabeth, DeChene, Elizabeth, Guan, Qiaoning, Bhoj, Elizabeth, Zhou, Xiangdong, Zhang, Bo, Wu, Chao, Dubbs, Holly, Wilkens, Alisha, Medne, Livija, Bedoukian, Emma, White, Peter S, Pennington, Jeffrey, Lou, Minjie, Conlin, Laura, Monos, Dimitri, Sarmady, Mahdi, Marsh, Eric, Zackai, Elaine, Spinner, Nancy, Krantz, Ian, Deardorff, Matt, Santani, Avni

“…In the published version of this article, the degree of author Bo Zhang was incorrectly listed as PhD. The correct degree is BS…”
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Molecular Diagnostic Outcomes from 700 Cases by Murrell, Jill R., Nesbitt, Addie May I., Baker, Samuel W., Pechter, Kieran B., Balciuniene, Jorune, Zhao, Xiaonan, Denenberg, Elizabeth H., DeChene, Elizabeth T., Wu, Chao, Jayaraman, Pushkala, Cao, Kajia, Gonzalez, Michael, Devoto, Marcella, Testori, Alessandro, Monos, John D., Dulik, Matthew C., Conlin, Laura K., Luo, Minjie, McDonald Gibson, Kristin, Guan, Qiaoning, Sarmady, Mahdi, Bhoj, Elizabeth, Helbig, Ingo, Zackai, Elaine H., Bedoukian, Emma C., Wilkens, Alisha, Tarpinian, Jennifer, Izumi, Kosuke, Skraban, Cara M., Deardorff, Matthew A., Medne, Livija, Krantz, Ian D., Krock, Bryan L., Santani, Avni B.

“…Clinical exome sequencing (CES) aids in the diagnosis of rare genetic disorders. Herein, we report the molecular diagnostic yield and spectrum of genetic…”
Get full text