檢索結果 - Kyle Retterer

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  1. 1
    High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders

    High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders 由 Mary Beth Stosser, Amanda Lindy, Elizabeth Butler, Kyle Retterer, Caitlin M. Piccirillo-Stosser, Gabriele Richard, Dianalee McKnight

    出版 2017
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  2. 2
    Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

    Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development 由 Carin Yates, Kristin G. Monaghan, Deborah Copenheaver, Kyle Retterer, Julie Scuffins, Cathlin R. Kucera, Bethany Friedman, Gabriele Richard, Jane Juusola

    出版 2017
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  3. 3
    Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders

    Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders 由 Amanda Lindy, Mary Beth Stosser, Elizabeth Butler, Courtney Downtain‐Pickersgill, Anita Shanmugham, Kyle Retterer, Tracy Brandt, Gabriele Richard, Dianalee McKnight

    出版 2018
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  4. 4
    Uniparental disomy in a population of 32,067 clinical exome trios

    Uniparental disomy in a population of 32,067 clinical exome trios 由 Julie Scuffins, Jennifer Keller‐Ramey, Lindsay Dyer, Ganka Douglas, Rebecca I. Torene, Vladimir G. Gainullin, Jane Juusola, Jeanne Meck, Kyle Retterer

    出版 2021
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  5. 5
    De novo <i>PHIP</i>-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features

    De novo <i>PHIP</i>-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features 由 Emily Webster, Megan T. Cho, Nora Alexander, Sonal Desai, Sakkubai Naidu, Mir Reza Bekheirnia, Andrea M. Lewis, Kyle Retterer, Jane Juusola, Wendy K. Chung

    出版 2016
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  6. 6
    Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders

    Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders 由 Tychele N. Turner, Amy B. Wilfert, Trygve E. Bakken, Raphael Bernier, Micah Pepper, Zhancheng Zhang, Rebecca I. Torene, Kyle Retterer, Evan E. Eichler

    出版 2019
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  7. 7
    De novo mutations in <i>PURA</i> are associated with hypotonia and developmental delay

    De novo mutations in <i>PURA</i> are associated with hypotonia and developmental delay 由 Akemi Tanaka, Renkui Bai, Megan T. Cho, Kwame Anyane‐Yeboa, Priyanka Ahimaz, Ashley Wilson, Fran Kendall, Beverly N. Hay, Timothy J. M. Moss, Monica Nardini, Mislen Bauer, Kyle Retterer, Jane Juusola, Wendy K. Chung

    出版 2015
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  8. 8
    Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort

    Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort 由 Kyle Retterer, Julie Scuffins, Daniel Schmidt, Rachel Lewis, Daniel Pineda‐Alvarez, Amanda Stafford, Lindsay Schmidt, Stephanie Warren, Federica Gibellini, Anastasia Kondakova, A. D. Blair, Sherri J. Bale, Ludmila Matyakhina, Jeanne Meck, Swaroop Aradhya, Eden Haverfield

    出版 2014
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  9. 9
    Mobile element insertion detection in 89,874 clinical exomes

    Mobile element insertion detection in 89,874 clinical exomes 由 Rebecca I. Torene, Kevin Galens, Shuxi Liu, Kevin J. Arvai, Carlos Borroto, Julie Scuffins, Zhancheng Zhang, Bethany Friedman, Hana Sroka, Jennifer Heeley, Erin Beaver, Lorne A. Clarke, Sarah Neil‐Sztramko, Jagdeep S. Walia, Danna Hull, Jane Juusola, Kyle Retterer

    出版 2020
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  10. 10
    De novo <i>POGZ</i> mutations are associated with neurodevelopmental disorders and microcephaly

    De novo <i>POGZ</i> mutations are associated with neurodevelopmental disorders and microcephaly 由 Yizhou Ye, Megan T. Cho, Kyle Retterer, Nora Alexander, Tawfeg Ben‐Omran, Mariam Almureikhi, Ingrid Cristian, Patricia G. Wheeler, Carrie Crain, Dina J. Zand, Veronique Weinstein, Hilary J. Vernon, Rebecca McClellan, Vidya Krishnamurthy, Patrik Vitazka, Francisca Millan, Wendy K. Chung

    出版 2015
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  11. 11
    Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

    Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects 由 Lia Boyle, Mirjam M. C. Wamelink, Gajja S. Salomons, Birthe Roos, Ana Pop, Andrew Dauber, Vivian Hwa, Melissa Andrew, Jessica Douglas, Murray Feingold, Nancy Kramer, Sulagna C. Saitta, Kyle Retterer, Megan T. Cho, Amber Begtrup, Kristin G. Monaghan, Julia Wynn, Wendy K. Chung

    出版 2016
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  12. 12
    Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females

    Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females 由 Jennifer Bain, Megan T. Cho, Aida Telegrafi, Ashley Wilson, Susan Sklower Brooks, Christina Botti, Gordon C. Gowans, Leigh Anne Autullo, Vidya Krishnamurthy, Marcia Willing, Tomi L. Toler, Bruria Ben-Zev, Orly Elpeleg, Yufeng Shen, Kyle Retterer, Kristin G. Monaghan, Wendy K. Chung

    出版 2016
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  13. 13
    Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases

    Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases 由 Rebecca I. Torene, María J. Guillen Sacoto, Francisca Millan, Zhancheng Zhang, Stephen McGee, Matthew T. Oetjens, Elizabeth M. Heise, Karen Chong, Richard Sidlow, Lauren O’Grady, Inderneel Sahai, Christa Lese Martin, David H. Ledbetter, Scott M. Myers, Kevin J. Mitchell, Kyle Retterer

    出版 2023
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  14. 14
    De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

    De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism 由 Linshan Shang, Lindsay B. Henderson, Megan T. Cho, Donald Petrey, Chin-To Fong, Katrina Haude, Natasha Shur, Julie Lundberg, Natalie Hauser, Jason Carmichael, Jeffrey W. Innis, Jane L. Schuette, Yvonne W. Wu, Shailesh Asaikar, Margaret A. Pearson, Leandra Folk, Kyle Retterer, Kristin G. Monaghan, Wendy K. Chung

    出版 2015
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  15. 15
    Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy

    Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy 由 Andrés Moreno-De-Luca, Francisca Millan, Denis R. Pesacreta, Houda Zghal Elloumi, Matthew T. Oetjens, Claire Teigen, Karen E. Wain, Julie Scuffins, Scott M. Myers, Rebecca I. Torene, Vladimir G. Gainullin, Kevin J. Arvai, H. Lester Kirchner, David H. Ledbetter, Kyle Retterer, Christa Lese Martin

    出版 2021
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  16. 16
    Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

    Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features 由 Hallie Steinfeld, Megan T. Cho, Kyle Retterer, Rick Person, G. Bradley Schaefer, Noelle R. Danylchuk, Saleem Malik, Stephanie Burns Wechsler, Patricia G. Wheeler, Koen L.I. van Gassen, Paulien A. Terhal, Virginie J. M. Verhoeven, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Lindsay B. Henderson, Wendy K. Chung

    出版 2016
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  17. 17
    Clinical application of whole-exome sequencing across clinical indications

    Clinical application of whole-exome sequencing across clinical indications 由 Kyle Retterer, Jane Juusola, Megan T. Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G. Monaghan, Dianalee McKnight, Renkui Bai, Sharon F. Suchy, Bethany Friedman, Jackie Tahiliani, Daniel Pineda‐Alvarez, Gabriele Richard, Tracy Brandt, Eden Haverfield, Wendy K. Chung, Sherri J. Bale

    出版 2015
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  18. 18
    De novo missense variants in<i>HECW2</i>are associated with neurodevelopmental delay and hypotonia

    De novo missense variants in<i>HECW2</i>are associated with neurodevelopmental delay and hypotonia 由 Esther R. Berko, Megan T. Cho, Christine M. Eng, Yunru Shao, David A. Sweetser, Jessica L. Waxler, Nathaniel H. Robin, Fallon Brewer, Sandra Donkervoort, Payam Mohassel, Carsten G. Bönnemann, Martin G. Bialer, Christine Moore, Lynne A. Wolfe, Cynthia J. Tifft, Yufeng Shen, Kyle Retterer, Francisca Millan, Wendy K. Chung

    出版 2016
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  19. 19
    Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

    Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss 由 Akemi Tanaka, Megan T. Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Charuta Joshi, Dmitriy Niyazov, Adolfo D. Garnica, Edward S. Gratz, Matthew A. Deardorff, Alisha Wilkins, Xilma R. Ortiz‐González, Katherine D. Mathews, Karin Panzer, Eva H. Brilstra, Koen L.I. van Gassen, Catharina M.L. Volker‐Touw, Ellen van Binsbergen, Nara Sobreira, Ada Hamosh, Dianalee McKnight, Kristin G. Monaghan, Wendy K. Chung

    出版 2015
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  20. 20
    Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

    Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy 由 D T Burns, Sandra Donkervoort, Juliane Müller, Ellen Knierim, Diana Bharucha‐Goebel, Eissa Faqeih, Stephanie Bell, Abdullah Alfaifi, Dorota Monies, Francisca Millan, Kyle Retterer, Sarah Dyack, Sara MacKay, Susanne Morales-Gonzalez, Michele Giunta, Benjamin Munro, Gavin Hudson, Mena Scavina, Laura Baker, Tara Massini, Monkol Lek, Ying Hu, Daniel Ezzo, Fowzan S. Alkuraya, Peter B. Kang, Helen Griffin, A. Reghan Foley, Markus Schuelke, Rita Horváth, Carsten G. Bönnemann

    出版 2018
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