Rezultaty - Douglas, Ganka

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

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Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes od Sadikovic, Bekim, Wang, Jing, El-Hattab, Ayman, Landsverk, Megan, Douglas, Ganka, Brundage, Ellen K., Craigen, William J., Schmitt, Eric S., Wong, Lee-Jun C.

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Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes od Sadikovic, Bekim, Wang, Jing, El-Hattab, Ayman W., Landsverk, Megan, Douglas, Ganka, Brundage, Ellen K., Craigen, William J., Schmitt, Eric S., Wong, Lee-Jun C.

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Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis od Douglas, Ganka V, Wiszniewska, Joanna, Lipson, Mark H, Witt, David R, McDowell, Taryn, Sifry-Platt, Mara, Hirano, Michio, Craigen, William J, Wong, Lee-Jun C

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Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans od Alfadhel, Majid, Nashabat, Marwan, Qahtani, Hanan Al, Alfares, Ahmed, Mutairi, Fuad Al, Shaalan, Hesham Al, Douglas, Ganka V., Wierenga, Klaas, Juusola, Jane, Alrifai, Muhammad Talal, Arold, Stefan T., Alkuraya, Fowzan, Ali, Qais Abu

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Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team od Douglas, Ganka, Axelrad, Marni E., Brandt, Mary L., Crabtree, Elizabeth, Dietrich, Jennifer E., French, Shannon, Gunn, Sheila, Karaviti, Lefkothea, Lopez, Monica E., Macias, Charles G., McCullough, Laurence B., Suresh, Deepa, Sutton, V. Reid

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

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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 od 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.

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De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment od 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.

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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia od Bhoj, Elizabeth J., Li, Dong, Harr, Margaret, Edvardson, Shimon, Elpeleg, Orly, Chisholm, Elizabeth, Juusola, Jane, Douglas, Ganka, Guillen Sacoto, Maria J., Siquier-Pernet, Karine, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Narravula, Alekhya, Walke, Maria, Horner, Michele B., Day-Salvatore, Debra-Lynn, Jayakar, Parul, Vergano, Samantha A. Schrier, Tarnopolsky, Mark A., Hegde, Madhuri, Colleaux, Laurence, Crino, Peter, Hakonarson, Hakon

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Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness od Slavotinek, Anne, Misceo, Doriana, Htun, Stephanie, Mathisen, Linda, Frengen, Eirik, Foreman, Michelle, Hurtig, Jennifer E, Enyenihi, Liz, Sterrett, Maria C, Leung, Sara W, Schneidman-Duhovny, Dina, Estrada-Veras, Juvianee, Duncan, Jacque L, Haaxma, Charlotte A, Kamsteeg, Erik-Jan, Xia, Vivian, Beleford, Daniah, Si, Yue, Douglas, Ganka, Treidene, Hans Einar, van Hoof, Ambro, Fasken, Milo B, Corbett, Anita H

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De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder od Mattioli, Francesca, Hayot, Gaelle, Drouot, Nathalie, Isidor, Bertrand, Courraud, Jérémie, Hinckelmann, Maria-Victoria, Mau-Them, Frederic Tran, Sellier, Chantal, Goldman, Alica, Telegrafi, Aida, Boughton, Alicia, Gamble, Candace, Moutton, Sebastien, Quartier, Angélique, Jean, Nolwenn, Van Ness, Paul, Grotto, Sarah, Nambot, Sophie, Douglas, Ganka, Si, Yue Cindy, Chelly, Jamel, Shad, Zohra, Kaplan, Elisabeth, Dineen, Richard, Golzio, Christelle, Charlet-Berguerand, Nicolas, Mandel, Jean-Louis, Piton, Amélie

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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila od Straub, Jonas, Konrad, Enrico D.H., Grüner, Johanna, Toutain, Annick, Bok, Levinus A., Cho, Megan T., Crawford, Heather P., Dubbs, Holly, Douglas, Ganka, Jobling, Rebekah, Johnson, Diana, Krock, Bryan, Mikati, Mohamad A., Nesbitt, Addie, Nicolai, Joost, Phillips, Meredith, Poduri, Annapurna, Ortiz-Gonzalez, Xilma R., Powis, Zöe, Santani, Avni, Smith, Lacey, Stegmann, Alexander P.A., Stumpel, Constance, Vreeburg, Maaike, Fliedner, Anna, Gregor, Anne, Sticht, Heinrich, Zweier, Christiane

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SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes od Kim, Jung-Hyun, Park, Eun Young, Chitayat, David, Stachura, David L., Schaper, Jörg, Lindstrom, Kristin, Jewett, Tamison, Wieczorek, Dagmar, Draaisma, Jos M., Sinnema, Margje, Hoeberigs, Christianne, Hempel, Maja, Bachman, Kristine K., Seeley, Andrea H., Stone, Joshua K., Kong, Hyun Kyung, Vukadin, Lana, Richard, Alexander, Shinde, Deepali N., McWalter, Kirsty, Si, Yue Cindy, Douglas, Ganka, Lim, Ssang-Taek Steve, Vissers, Lisenka E.L.M., Lemaire, Mathieu, Ahn, Eun-Young Erin

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NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease od Martin, Paige B., Kigoshi-Tansho, Yu, Sher, Roger B., Ravenscroft, Gianina, Stauffer, Jennifer E., Kumar, Rajesh, Yonashiro, Ryo, Müller, Tina, Griffith, Christopher, Allen, William, Pehlivan, Davut, Haral, Tamar, Zenker, Martin, Howting, Denise, Schanze, Denny, Faqeih, Eissa A., Almontashiri, Naif A. M., Maroofian, Reza, Houlden, Henry, Mazaheri, Neda, Galehdari, Hamid, Douglas, Ganka, Posey, Jennifer E., Ryan, Monique, Lupski, James R., Laing, Nigel G., Joazeiro, Claudio A. P., Cox, Gregory A.

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Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease od Martin, Paige B., Kigoshi-Tansho, Yu, Sher, Roger B., Ravenscroft, Gianina, Stauffer, Jennifer E., Kumar, Rajesh, Yonashiro, Ryo, Müller, Tina, Griffith, Christopher, Allen, William, Pehlivan, Davut, Harel, Tamar, Zenker, Martin, Howting, Denise, Schanze, Denny, Faqeih, Eissa A., Almontashiri, Naif A. M., Maroofian, Reza, Houlden, Henry, Mazaheri, Neda, Galehdari, Hamid, Douglas, Ganka, Posey, Jennifer E., Ryan, Monique, Lupski, James R., Laing, Nigel G., Joazeiro, Claudio A. P., Cox, Gregory A.

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Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy od Flex, Elisabetta, Niceta, Marcello, Cecchetti, Serena, Thiffault, Isabelle, Au, Margaret G., Capuano, Alessandro, Piermarini, Emanuela, Ivanova, Anna A., Francis, Joshua W., Chillemi, Giovanni, Chandramouli, Balasubramanian, Carpentieri, Giovanna, Haaxma, Charlotte A., Ciolfi, Andrea, Pizzi, Simone, Douglas, Ganka V., Levine, Kara, Sferra, Antonella, Dentici, Maria Lisa, Pfundt, Rolph R., Le Pichon, Jean-Baptiste, Farrow, Emily, Baas, Frank, Piemonte, Fiorella, Dallapiccola, Bruno, Graham, John M., Saunders, Carol J., Bertini, Enrico, Kahn, Richard A., Koolen, David A., Tartaglia, Marco

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TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants od Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.

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Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants od Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.

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WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features od Skraban, Cara M., Wells, Constance F., Markose, Preetha, Cho, Megan T., Nesbitt, Addie I., Au, P.Y. Billie, Begtrup, Amber, Bernat, John A., Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P.M., Denenberg, Elizabeth H., Douglas, Ganka, Gibson, Kristin M., Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M., Owens, Martina M., Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L.S., Verbeek, Nienke E., Walsh, Laurence E., Warner, Taylor C., Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B., Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A.

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