Ohcanbohtosat - Retterer, Kyle

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  1. 1
    The tale of two genes: from next-generation sequencing to phenotype

    The tale of two genes: from next-generation sequencing to phenotype Dahkki Rohanizadegan, Mersedeh, Siddharath, Aishwarya, Retterer, Kyle, Hung, Christina, Bodamer, Olaf

    Almmustuhtton 2020
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  2. 2
    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 Dahkki Stosser, Mary Beth, Lindy, Amanda S, Butler, Elizabeth, Retterer, Kyle, Piccirillo-Stosser, Caitlin M, Richard, Gabriele, McKnight, Dianalee A

    Almmustuhtton 2018
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  3. 3
    Uniparental disomy in a population of 32,067 clinical exome trios

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

    Almmustuhtton 2021
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  4. 4
    De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features

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

    Almmustuhtton 2016
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  5. 5
    Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders

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

    Almmustuhtton 2019
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  6. 6
    Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls

    Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls Dahkki Arvai, Kevin J., Roberts, Maegan E., Torene, Rebecca I., Susswein, Lisa R., Marshall, Megan L., Zhang, Zhancheng, Carter, Natalie J., Yackowski, Lauren, Rinella, Erica S., Klein, Rachel T., Hruska, Kathleen S., Retterer, Kyle

    Almmustuhtton 2019
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  7. 7
    De novo mutations in PURA are associated with hypotonia and developmental delay

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

    Almmustuhtton 2015
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  8. 8
    Mobile element insertion detection in 89,874 clinical exomes

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

    Almmustuhtton 2020
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  9. 9
    De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features

    De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features Dahkki Tanaka, Akemi J., Cho, Megan T., Retterer, Kyle, Jones, Julie R., Nowak, Catherine, Douglas, Jessica, Jiang, Yong-Hui, McConkie-Rosell, Allyn, Schaefer, G. Bradley, Kaylor, Julie, Rahman, Omar A., Telegrafi, Aida, Friedman, Bethany, Douglas, Ganka, Monaghan, Kristin G., Chung, Wendy K.

    Almmustuhtton 2016
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  10. 10
    De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

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

    Almmustuhtton 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 Dahkki Boyle, Lia, Wamelink, Mirjam M.C., Salomons, Gajja S., Roos, Birthe, Pop, Ana, Dauber, Andrew, Hwa, Vivian, Andrew, Melissa, Douglas, Jessica, Feingold, Murray, Kramer, Nancy, Saitta, Sulagna, Retterer, Kyle, Cho, Megan T., Begtrup, Amber, Monaghan, Kristin G., Wynn, Julia, Chung, Wendy K.

    Almmustuhtton 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 Dahkki Bain, Jennifer M., Cho, Megan T., Telegrafi, Aida, Wilson, Ashley, Brooks, Susan, Botti, Christina, Gowans, Gordon, Autullo, Leigh Anne, Krishnamurthy, Vidya, Willing, Marcia C., Toler, Tomi L., Ben-Zev, Bruria, Elpeleg, Orly, Shen, Yufeng, Retterer, Kyle, Monaghan, Kristin G., Chung, Wendy K.

    Almmustuhtton 2016
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  13. 13
    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 Dahkki Shang, Linshan, Henderson, Lindsay B., Cho, Megan T., Petrey, Donald S., Fong, Chin-To, Haude, Katrina M., Shur, Natasha, Lundberg, Julie, Hauser, Natalie, Carmichael, Jason, Innis, Jeffrey, Schuette, Jane, Wu, Yvonne W., Asaikar, Shailesh, Pearson, Margaret, Folk, Leandra, Retterer, Kyle, Monaghan, Kristin G., Chung, Wendy K.

    Almmustuhtton 2015
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  14. 14
    Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy

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

    Almmustuhtton 2021
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  15. 15
    De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia

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

    Almmustuhtton 2016
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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 Dahkki Steinfeld, Hallie, Cho, Megan T., Retterer, Kyle, Person, Rick, Schaefer, G. Bradley, Danylchuk, Noelle, Malik, Saleem, Wechsler, Stephanie Burns, Wheeler, Patricia G., van Gassen, Koen L.I., Terhal, P.A., Verhoeven, Virginie J.M., van Slegtenhorst, Marjon A., Monaghan, Kristin G., Henderson, Lindsay B., Chung, Wendy K.

    Almmustuhtton 2016
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  17. 17
    De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

    De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay Dahkki Yang, Hui, Douglas, Ganka, Monaghan, Kristin G., Retterer, Kyle, Cho, Megan T., Escobar, Luis F., Tucker, Megan E., Stoler, Joan, Rodan, Lance H., Stein, Diane, Marks, Warren, Enns, Gregory M., Platt, Julia, Cox, Rachel, Wheeler, Patricia G., Crain, Carrie, Calhoun, Amy, Tryon, Rebecca, Richard, Gabriele, Vitazka, Patrik, Chung, Wendy K.

    Almmustuhtton 2015
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  18. 18
    De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

    De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism Dahkki Tanaka, Akemi J., Cho, Megan T., Willaert, Rebecca, Retterer, Kyle, Zarate, Yuri A., Bosanko, Katie, Stefans, Vikki, Oishi, Kimihiko, Williamson, Amy, Wilson, Golder N., Basinger, Alice, Barbaro-Dieber, Tina, Ortega, Lucia, Sorrentino, Susanna, Gabriel, Melissa K., Anderson, Ilse J., Sacoto, Maria J. Guillen, Schnur, Rhonda E., Chung, Wendy K.

    Almmustuhtton 2017
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  19. 19
    De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

    De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment Dahkki Okur, Volkan, Cho, Megan T., van Wijk, Richard, van Oirschot, Brigitte, Picker, Jonathan, Coury, Stephanie A., Grange, Dorothy, Manwaring, Linda, Krantz, Ian, Muraresku, Colleen Clark, Hulick, Peter J., May, Holley, Pierce, Eric, Place, Emily, Bujakowska, Kinga, Telegrafi, Aida, Douglas, Ganka, Monaghan, Kristin G., Begtrup, Amber, Wilson, Ashley, Retterer, Kyle, Anyane-Yeboa, Kwame, Chung, Wendy K.

    Almmustuhtton 2019
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  20. 20
    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 Dahkki Tanaka, Akemi J., Cho, Megan T., Millan, Francisca, Juusola, Jane, Retterer, Kyle, Joshi, Charuta, Niyazov, Dmitriy, Garnica, Adolfo, Gratz, Edward, Deardorff, Matthew, Wilkins, Alisha, Ortiz-Gonzalez, Xilma, Mathews, Katherine, Panzer, Karin, Brilstra, Eva, van Gassen, Koen L.I., Volker-Touw, Catharina M.L., van Binsbergen, Ellen, Sobreira, Nara, Hamosh, Ada, McKnight, Dianalee, Monaghan, Kristin G., Chung, Wendy K.

    Almmustuhtton 2015
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