Ohcanbohtosat - Koolen, David A.

Whole exome sequencing of suspected mitochondrial patients in clinical practice Dahkki Wortmann, Saskia B., Koolen, David A., Smeitink, Jan A., van den Heuvel, Lambert, Rodenburg, Richard J.

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Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia Dahkki Morgan, Angela T., Haaften, Leenke van, van Hulst, Karen, Edley, Carol, Mei, Cristina, Tan, Tiong Yang, Amor, David, Fisher, Simon E., Koolen, David A.

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Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome Dahkki Dingemans, Alexander J. M., Stremmelaar, Diante E., van der Donk, Roos, Vissers, Lisenka E. L. M., Koolen, David A., Rump, Patrick, Hehir-Kwa, Jayne Y., de Vries, Bert B. A.

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Variability in dentofacial phenotypes in four families with WNT10A mutations Dahkki Vink, Christian P, Ockeloen, Charlotte W, ten Kate, Sietske, Koolen, David A, Ploos van Amstel, Johannes Kristian, Kuijpers-Jagtman, Anne-Marie, van Heumen, Celeste C, Kleefstra, Tjitske, Carels, Carine E L

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Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism Dahkki Koolen, David A, Dupont, Juliette, de Leeuw, Nicole, Vissers, Lisenka ELM, van den Heuvel, Simone PA, Bradbury, Alyson, Steer, James, de Brouwer, Arjan PM, ten Kate, Leo P, Nillesen, Willy M, de Vries, Bert BA, Parker, Michael J

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Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing Dahkki Itsara, Andy, Vissers, Lisenka E.L.M., Steinberg, Karyn Meltz, Meyer, Kevin J., Zody, Michael C., Koolen, David A., de Ligt, Joep, Cuppen, Edwin, Baker, Carl, Lee, Choli, Graves, Tina A., Wilson, Richard K., Jenkins, Robert B., Veltman, Joris A., Eichler, Evan E.

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Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders Dahkki van der Donk, Roos, Jansen, Sandra, Schuurs-Hoeijmakers, Janneke H. M., Koolen, David A., Goltstein, Lia C. M. J., Hoischen, Alexander, Brunner, Han G., Kemmeren, Patrick, Nellåker, Christoffer, Vissers, Lisenka E. L. M., de Vries, Bert B. A., Hehir-Kwa, Jayne Y.

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Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders Dahkki Linda, Katrin, Lewerissa, Elly I., Verboven, Anouk H. A., Gabriele, Michele, Frega, Monica, Klein Gunnewiek, Teun M., Devilee, Lynn, Ulferts, Edda, Hommersom, Marina, Oudakker, Astrid, Schoenmaker, Chantal, van Bokhoven, Hans, Schubert, Dirk, Testa, Giuseppe, Koolen, David A., de Vries, Bert B.A., Nadif Kasri, Nael

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Neonatal Non-Epileptic Myoclonus is a Prominent Clinical Feature of KCNQ2 Gain-of-Function Variants R201C and R201H Dahkki Mulkey, Sarah B., Ben-Zeev, Bruria, Nicolai, Joost, Carroll, John L., Grønborg, Sabine, Jiang, Yong-hui, Joshi, Nishtha, Kelly, Megan, Koolen, David. A., Mikati, Mohamad A., Park, Kristen, Pearl, Phillip L., Scheffer, Ingrid E., Spillmann, Rebecca C., Taglialatela, Maurizio, Vieker, Silvia, Weckhuysen, Sarah, Cooper, Edward C., Cilio, Maria Roberta

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Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information Dahkki Dingemans, Alexander J. M., Stremmelaar, Diante E., Vissers, Lisenka E. L. M., Jansen, Sandra, Nabais Sá, Maria J., van Remortele, Angela, Jonis, Noraly, Truijen, Kim, van de Ven, Sam, Ewals, Jeroen, Verbruggen, Michel, Koolen, David A., Brunner, Han G., Eichler, Evan E., Gecz, Jozef, de Vries, Bert B. A.

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Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition Dahkki Arbogast, Thomas, Iacono, Giovanni, Chevalier, Claire, Afinowi, Nurudeen O., Houbaert, Xander, van Eede, Matthijs C., Laliberte, Christine, Birling, Marie-Christine, Linda, Katrin, Meziane, Hamid, Selloum, Mohammed, Sorg, Tania, Nadif Kasri, Nael, Koolen, David A., Stunnenberg, Henk G., Henkelman, R. Mark, Kopanitsa, Maksym, Humeau, Yann, De Vries, Bert B. A., Herault, Yann

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Aminoacyl-tRNA synthetase deficiencies in search of common themes Dahkki Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G. J., van Gassen, Koen L. I., Terheggen-Lagro, Suzanne W. J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E. M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H. J., Mulder, Margot F., van Hasselt, Peter M.

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De novo variants in MPP5 cause global developmental delay and behavioral changes Dahkki Sterling, Noelle, Duncan, Anna R, Park, Raehee, Koolen, David A, Shi, Jiahai, Cho, Seo-Hee, Benke, Paul J, Grant, Patricia E, Genetti, Casie A, VanNoy, Grace E, Juusola, Jane, McWalter, Kirsty, Parboosingh, Jillian S, Lamont, Ryan E, Bernier, Francois P, Smith, Christopher, Harris, David J, Stegmann, Alexander P A, Innes, A Micheil, Kim, Seonhee, Agrawal, Pankaj B

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Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes Dahkki Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G. J., van Gassen, Koen L. I., Terheggen-Lagro, Suzanne W. J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E. M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H. J., Mulder, Margot F., van Hasselt, Peter M.

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Diagnostic Genome Profiling in Mental Retardation Dahkki de Vries, Bert B. A., Pfundt, Rolph, Leisink, Martijn, Koolen, David A., Vissers, Lisenka E. L. M., Janssen, Irene M., Reijmersdal, Simon van, Nillesen, Willy M., Huys, Erik H. L. P. G., Leeuw, Nicole de, Smeets, Dominique, Sistermans, Erik A., Feuth, Ton, van Ravenswaaij-Arts, Conny M. A., van Kessel, Ad Geurts, Schoenmakers, Eric F. P. M., Brunner, Han G., Veltman, Joris A.

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DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome Dahkki Verberne, Eline A., van der Laan, Liselot, Haghshenas, Sadegheh, Rooney, Kathleen, Levy, Michael A., Alders, Mariëlle, Maas, Saskia M., Jansen, Sandra, Lieden, Agne, Anderlid, Britt-Marie, Rafael-Croes, Louise, Campeau, Philippe M., Chaudhry, Ayeshah, Koolen, David A., Pfundt, Rolph, Hurst, Anna C. E., Tran-Mau-Them, Frederic, Bruel, Ange-Line, Lambert, Laetitia, Isidor, Bertrand, Mannens, Marcel M. A. M., Sadikovic, Bekim, Henneman, Peter, van Haelst, Mieke M.

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Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior Dahkki de Brouwer, Arjan P.M., Abou Jamra, Rami, Körtel, Nadine, Soyris, Clara, Polla, Daniel L., Safra, Modi, Zisso, Avia, Powell, Christopher A., Rebelo-Guiomar, Pedro, Dinges, Nadja, Morin, Violeta, Stock, Michael, Hussain, Mureed, Shahzad, Mohsin, Riazuddin, Saima, Ahmed, Zubair M., Pfundt, Rolph, Schwarz, Franziska, de Boer, Lonneke, Reis, André, Grozeva, Detilina, Raymond, F. Lucy, Riazuddin, Sheikh, Koolen, David A., Minczuk, Michal, Roignant, Jean-Yves, van Bokhoven, Hans, Schwartz, Schraga

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RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis Dahkki Shintaku, Jonathan, Pernice, Wolfgang M., Eyaid, Wafaa, GC, Jeevan B., Brown, Zuben P., Juanola-Falgarona, Marti, Torres-Torronteras, Javier, Sommerville, Ewen W., Hellebrekers, Debby M.E.I., Blakely, Emma L., Donaldson, Alan, van de Laar, Ingrid, Leu, Cheng-Shiun, Marti, Ramon, Frank, Joachim, Tanji, Kurenai, Koolen, David A., Rodenburg, Richard J., Chinnery, Patrick F., Smeets, H.J.M., Gorman, Gráinne S., Bonnen, Penelope E., Taylor, Robert W., Hirano, Michio

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Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy Dahkki 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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Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy Dahkki McMillan, Hugh J., Telegrafi, Aida, Singleton, Amanda, Cho, Megan T., Lelli, Daniel, Lynn, Francis C., Griffin, Julie, Asamoah, Alexander, Rinne, Tuula, Erasmus, Corrie E., Koolen, David A., Haaxma, Charlotte A., Keren, Boris, Doummar, Diane, Mignot, Cyril, Thompson, Islay, Velsher, Lea, Dehghani, Mohammadreza, Vahidi Mehrjardi, Mohammad Yahya, Maroofian, Reza, Tchan, Michel, Simons, Cas, Christodoulou, John, Martín-Hernández, Elena, Guillen Sacoto, Maria J., Henderson, Lindsay B., McLaughlin, Heather, Molday, Laurie L., Molday, Robert S., Yoon, Grace

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