检索结果 - Dianalee McKnight

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  1. 1
    Overlapping <i>DSPP</i> Mutations Cause Dentin Dysplasia and Dentinogenesis Imperfecta

    Overlapping <i>DSPP</i> Mutations Cause Dentin Dysplasia and Dentinogenesis Imperfecta 由 Dianalee McKnight, James P. Simmer, P. Suzanne Hart, Thomas C. Hart, Larry W. Fisher

    出版 2008
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  2. 2
    A novel variant in <i>GABRB2</i> associated with intellectual disability and epilepsy

    A novel variant in <i>GABRB2</i> associated with intellectual disability and epilepsy 由 Siddharth Srivastava, Julie S. Cohen, Jonathan Pevsner, Swaroop Aradhya, Dianalee McKnight, Elizabeth Butler, Michael V. Johnston, Ali Fatemi

    出版 2014
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  3. 3
    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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  4. 4
    A comprehensive analysis of normal variation and disease-causing mutations in the human<i>DSPP</i>gene

    A comprehensive analysis of normal variation and disease-causing mutations in the human<i>DSPP</i>gene 由 Dianalee McKnight, P. Suzanne Hart, Thomas C. Hart, James K. Hartsfield, Anne Wilson, J. Timothy Wright, Larry W. Fisher

    出版 2008
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  5. 5
    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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  6. 6
    A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants

    A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants 由 Javier A. López-Rivera, Eduardo Pérez‐Palma, Joseph D. Symonds, Amanda Lindy, Dianalee McKnight, Costin Leu, Sameer M. Zuberi, Andreas Brunklaus, Rikke S. Møller, Dennis Lal

    出版 2020
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  7. 7
    Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings.

    Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings. 由 Dianalee McKnight, Sara L. Bristow, Rebecca Truty, Ana Morales, Molly Stetler, M. Jody Westbrook, Kristina Robinson, Darlene Riethmaier, Felippe Borlot, Marissa Kellogg, Sean Hwang, Anne T. Berg, Swaroop Aradhya

    出版 2022
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  8. 8
    Multigene Panel Testing in a Large Cohort of Adults With Epilepsy

    Multigene Panel Testing in a Large Cohort of Adults With Epilepsy 由 Dianalee McKnight, Sara L. Bristow, Rebecca Truty, Ana Morales, Molly Stetler, M. Jody Westbrook, Kristina Robinson, Darlene Riethmaier, Felippe Borlot, Marissa Kellogg, Sean Hwang, Anne T. Berg, Swaroop Aradhya

    出版 2021
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  9. 9
    High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

    High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity 由 Carlos G. Vanoye, Reshma R. Desai, Zhigang Ji, Sneha Adusumilli, Nirvani Jairam, Nora F. Ghabra, Nishtha Joshi, Eryn Fitch, Katherine L. Helbig, Dianalee McKnight, Amanda Lindy, Fanggeng Zou, Ingo Helbig, Edward C. Cooper, Alfred L. George

    出版 2022
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  10. 10
    Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

    Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing 由 Elaine Chen, Flavia M. Facio, Kerry Aradhya, Susan Rojahn, Kathryn E. Hatchell, Sienna Aguilar, Karen Ouyang, Sulagna C. Saitta, Andrea K. Hanson-Kwan, Nicole Nakousi‐Capurro, Eriko Takamine, Saumya Shekhar Jamuar, Dianalee McKnight, Britt Johnson, Swaroop Aradhya

    出版 2023
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  11. 11
    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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  12. 12
    De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

    De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy 由 Sahar Esmaeeli Nieh, Maura R.Z. Madou, Minhajuddin Sirajuddin, Brieana Fregeau, Dianalee McKnight, Katrina W. Lexa, Jonathan B. Strober, Christine G. Spaeth, Barbara Hallinan, Nizar Smaoui, John Pappas, Thomas Andrew Burrow, Marie McDonald, Mariam Latibashvili, Esther Leshinsky‐Silver, Dorit Lev, Luba Blumkin, Ronald D. Vale, A. James Barkovich, Elliott H. Sherr

    出版 2015
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  13. 13
    Current knowledge of SLC6A1-related neurodevelopmental disorders

    Current knowledge of SLC6A1-related neurodevelopmental disorders 由 Kimberly Goodspeed, Eduardo Pérez‐Palma, Sumaiya Iqbal, Dominique D. Cooper, Annalisa Scimemi, Katrine M. Johannesen, Arthur Stefanski, Scott Demarest, Katherine L. Helbig, Jing‐Qiong Kang, Frances C. Shaffo, Brandon Prentice, Catherine A. Brownstein, Byungchan Lim, Ingo Helbig, Emily de los Reyes, Dianalee McKnight, Vincenzo Crunelli, Arthur J. Campbell, Rikke S. Møller, Amber Freed, Dennis Lal

    出版 2020
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    Revisão
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  14. 14
    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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  15. 15
    Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

    Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism 由 Hyung‐Goo Kim, Jill A. Rosenfeld, Daryl A. Scott, Gerard Bénédicte, Jonathan D. J. Labonne, Jason Brown, Marianne McGuire, Sonal Mahida, Sakkubai Naidu, Jacqueline Gutierrez, Gaëtan Lesca, Vincent des Portes, Ange-Line Bruel, Arthur Sorlin, Fan Xia, Yline Capri, Eric Muller, Dianalee McKnight, Erin Torti, Franz Rüschendorf, Oliver Hummel, Zeyaul Islam, Prasanna R. Kolatkar, Lawrence C. Layman, Duchwan Ryu, Il‐Keun Kong, Suneeta Madan‐Khetarpal, Cheol‐Hee Kim

    出版 2019
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  16. 16
    Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

    Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 由 Myriam Srour, Fadi F. Hamdan, Dianalee McKnight, Erica E. Davis, Hanna Mandel, Jeremy Schwartzentruber, Brissa Martin, Lysanne Patry, Christina Nassif, Alexandre Dionne‐Laporte, Luis H. Ospina, Emmanuelle Lemyre, Christine Massicotte, Rachel Laframboise, Bruno Maranda, Damian Labuda, Jean‐Claude Décarie, Françoise Rypens, Dorith Goldsher, Catherine Fallet‐Bianco, Jean‐François Soucy, Anne‐Marie Laberge, Catalina Maftei, Kym M. Boycott, Bernard Brais, Renée‐Myriam Boucher, Guy A. Rouleau, Nicholas Katsanis, Jacek Majewski, Orly Elpeleg, Mary K. Kukolich, Stavit A. Shalev, Jacques L. Michaud

    出版 2015
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  17. 17
    The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

    The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations 由 Chun‐An Chen, Daniëlle G.M. Bosch, Megan T. Cho, Jill A. Rosenfeld, Marwan Shinawi, Richard A. Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence E. Walsh, Timothy Moss, Allison Schreiber, Cheri Schoonveld, Kristin G. Monaghan, Frances Elmslie, Ganka Douglas, F. Nienke Boonstra, Francisca Millan, Frans P.M. Cremers, Dianalee McKnight, Gabriele Richard, Jane Juusola, Fran Kendall, Keri Ramsey, Kwame Anyane‐Yeboa, Elfrida Malkin, Wendy K. Chung, Dmitriy Niyazov, Juan M. Pascual, Magdalena Walkiewicz, Vivekanand Veluchamy, Chumei Li, Fuki M. Hisama, Bert B.A. de Vries, Christian P. Schaaf

    出版 2016
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  18. 18
    Spectrum of K<sub>V</sub>2.1 Dysfunction in <i>KCNB1</i>‐Associated Neurodevelopmental Disorders

    Spectrum of K<sub>V</sub>2.1 Dysfunction in <i>KCNB1</i>‐Associated Neurodevelopmental Disorders 由 Seok Kyu Kang, Carlos G. Vanoye, Sunita N. Misra, Dennis M. Echevarria-Cooper, Jeffrey D. Calhoun, John B. O’Connor, Katarina L. Fabre, Dianalee McKnight, Laurie Demmer, Paula Goldenberg, Lauren Grote, Isabelle Thiffault, Carol Saunders, Kevin A. Strauss, Ali Torkamani, Jasper van der Smagt, Koen L.I. van Gassen, Robert P. Carson, Jullianne Diaz, Eyby Leon, Joseph E. Jacher, Mark C. Hannibal, Jessica Litwin, Neil Friedman, Allison Schreiber, Bryan Lynch, Annapurna Poduri, Eric D. Marsh, Ethan M. Goldberg, J Gordon Millichap, Alfred L. George, Jennifer A. Kearney

    出版 2019
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  19. 19
    <i>KCTD7</i> deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect

    <i>KCTD7</i> deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect 由 Kyle Metz, Xinchen Teng, Isabelle Coppens, Heather M. Lamb, Bart Wagner, Jill A. Rosenfeld, Xianghui Chen, Yu Zhang, Hee Jong Kim, Michael E. Meadow, Tim Sen Wang, Edda Haberlandt, Glenn Anderson, Esther Leshinsky‐Silver, Weimin Bi, Thomas C. Markello, Marsha Pratt, Nawal Makhseed, Adolfo D. Garnica, Noelle R. Danylchuk, Thomas Andrew Burrow, Parul Jayakar, Dianalee McKnight, Satish Agadi, Hatha Gbedawo, Christine M. Stanley, Michael Alber, Isabelle Prehl, Katrina Peariso, Min Ong, Santosh Mordekar, Michael Parker, Daniel Crooks, Pankaj B. Agrawal, Gerard T. Berry, Tobias Loddenkemper, Yaping Yang, Gustavo Maegawa, Abdel Aouacheria, Janet Markle, James A. Wohlschlegel, Adam L. Hartman, J. Marie Hardwick

    出版 2018
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  20. 20
    SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

    SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals 由 Bobby G. Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A. Bacino, Rita Barone, Lorenzo D. Botto, Jennifer Burton, Colleen M. Carlston, Brian Hon‐Yin Chung, Julie S. Cohen, David Coman, Katrina M. Dipple, Naghmeh Dorrani, William B. Dobyns, Abdallah F. Elias, Leon G. Epstein, William A. Gahl, Domenico Garozzo, Trine Bjørg Hammer, Jaclyn Haven, Delphine Héron, Matthew Herzog, George Hoganson, Jesse M. Hunter, Mahim Jain, Jane Juusola, Shenela Lakhani, Hane Lee, Joy Lee, Cathryn M. Lewis, Nicola Longo, Charles Marques Lourenço, Christopher Chun Yu Mak, Dianalee McKnight, Bryce A. Mendelsohn, Cyril Mignot, Ghayda Mirzaa, Wendy G. Mitchell, Hiltrud Muhle, Stanley F. Nelson, Mariusz Olczak, Christina G.S. Palmer, Arthur Partikian, Marc C. Patterson, Tyler Mark Pierson, Shane C. Quinonez, Brigid M. Regan, M. Elizabeth Ross, María J. Guillen Sacoto, Fernando Scaglia, Ingrid E. Scheffer, Devorah Segal, Nilika S. Singhal, Pasquale Striano, Luisa Sturiale, Joseph D. Symonds, Sha Tang, Éric Vilain, Mary Willis, Lynne A. Wolfe, Hui Yang, Shoji Yano, Zöe Powis, Sharon F. Suchy, Jill A. Rosenfeld, Andrew C. Edmondson, Stephanie Grünewald, Hudson H. Freeze

    出版 2019
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