A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus
Takai, Hiroyuki, Jenkinson, Emma, Kabir, Shaheen, Babul-Hirji, Riyana, Najm-Tehrani, Nasrin, Chitayat, David A, Crow, Yanick J, de Lange, Titia
Published in Genes & development (01.04.2016)
Published in Genes & development (01.04.2016)
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Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
New, Maria I., Abraham, Moolamannil, Gonzalez, Brian, Dumic, Miroslav, Razzaghy-Azar, Maryam, Chitayat, David, Sun, Li, Zaidi, Mone, Wilson, Robert C., Yuen, Tony
Published in Proceedings of the National Academy of Sciences - PNAS (12.02.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (12.02.2013)
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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Crow, Yanick J., Chase, Diana S., Lowenstein Schmidt, Johanna, Szynkiewicz, Marcin, Forte, Gabriella M.A., Gornall, Hannah L., Oojageer, Anthony, Anderson, Beverley, Helman, Guy, Abdel-Salam, Ghada M., Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon-Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul-Hirji, Riyana, Bahi-Buisson, Nadia, Bailey, Kathryn M., Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Geneviève, Bianchi, Marika, Blair, Edward M., Burlina, Alberto B., Luisa Carpanelli, Maria, Castro-Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Sierra Corcoles, Concepcion, Cordeiro, Nuno J.V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., De Goede, Christian G.E.L., De Laet, Corinne, De Waele, Liesbeth M.H., Desguerre, Isabelle, Devriendt, Koenraad, Fazzi, Elisa, Figueiredo, António, Gener, Blanca, Goizet, Cyril, Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Khan, Nasaim, King, Mary D., Kumar, Ram, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, Lim, Ming J., Lin, Jean-Pierre S.-M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., McKee, Shane A., Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez-Enamorado, Noemi, Oades, Patrick J., Ostergaard, John R., Pérez-Dueñas, Belén, Prendiville, Julie S., Rasmussen, Magnhild, Ricci, Federica, Rio, Marlène, Rodriguez, Diana, Roubertie, Agathe, Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stödberg, Tommy I., Straussberg, Rachel, Suri, Mohnish, Tan, Tiong Y., te Water Naude, Johann, Maria Valente, Enza, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, Wallace, Geoffrey B., Wassmer, Evangeline, Webb, Hannah J., Whitehouse, William P., Whitney, Robyn N., Zaki, Maha S., Zuberi, Sameer M., Livingston, John H., Rozenberg, Flore, Vanderver, Adeline, Orcesi, Simona, Rice, Gillian I.
Published in American journal of medical genetics. Part A (01.02.2015)
Published in American journal of medical genetics. Part A (01.02.2015)
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Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother
Koren, Gideon, Cairns, James, Chitayat, David, Gaedigk, Andrea, Leeder, Steven J
Published in The Lancet (British edition) (19.08.2006)
Published in The Lancet (British edition) (19.08.2006)
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Haploinsufficiency of SF3B2 causes craniofacial microsomia
Timberlake, Andrew T., Griffin, Casey, Heike, Carrie L., Hing, Anne V., Cunningham, Michael L., Chitayat, David, Davis, Mark R., Doust, Soghra J., Drake, Amelia F., Duenas-Roque, Milagros M., Goldblatt, Jack, Gustafson, Jonas A., Hurtado-Villa, Paula, Johns, Alexis, Karp, Natalya, Laing, Nigel G., Magee, Leanne, Mullegama, Sureni V., Pachajoa, Harry, Porras-Hurtado, Gloria L., Schnur, Rhonda E., Slee, Jennie, Singer, Steven L., Staffenberg, David A., Timms, Andrew E., Wise, Cheryl A., Zarante, Ignacio, Saint-Jeannet, Jean-Pierre, Luquetti, Daniela V.
Published in Nature communications (03.08.2021)
Published in Nature communications (03.08.2021)
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Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development
Cappello, Silvia, Gray, Mary J, Badouel, Caroline, Lange, Simona, Einsiedler, Melanie, Srour, Myriam, Chitayat, David, Hamdan, Fadi F, Jenkins, Zandra A, Morgan, Tim, Preitner, Nadia, Uster, Tami, Thomas, Jackie, Shannon, Patrick, Morrison, Victoria, Di Donato, Nataliya, Van Maldergem, Lionel, Neuhann, Teresa, Newbury-Ecob, Ruth, Swinkells, Marielle, Terhal, Paulien, Wilson, Louise C, Zwijnenburg, Petra J G, Sutherland-Smith, Andrew J, Black, Michael A, Markie, David, Michaud, Jacques L, Simpson, Michael A, Mansour, Sahar, McNeill, Helen, Götz, Magdalena, Robertson, Stephen P
Published in Nature genetics (01.11.2013)
Published in Nature genetics (01.11.2013)
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DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes
Choufani, Sanaa, Gibson, William T., Turinsky, Andrei L., Chung, Brian H.Y., Wang, Tianren, Garg, Kopal, Vitriolo, Alessandro, Cohen, Ana S.A., Cyrus, Sharri, Goodman, Sarah, Chater-Diehl, Eric, Brzezinski, Jack, Brudno, Michael, Ming, Luk Ho, White, Susan M., Lynch, Sally Ann, Clericuzio, Carol, Temple, I. Karen, Flinter, Frances, McConnell, Vivienne, Cushing, Tom, Bird, Lynne M., Splitt, Miranda, Kerr, Bronwyn, Scherer, Stephen W., Machado, Jerry, Imagawa, Eri, Okamoto, Nobuhiko, Matsumoto, Naomichi, Testa, Guiseppe, Iascone, Maria, Tenconi, Romano, Caluseriu, Oana, Mendoza-Londono, Roberto, Chitayat, David, Cytrynbaum, Cheryl, Tatton-Brown, Katrina, Weksberg, Rosanna
Published in American journal of human genetics (07.05.2020)
Published in American journal of human genetics (07.05.2020)
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Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation
Kato, Mitsuhiro, Yamagata, Takanori, Kubota, Masaya, Arai, Hiroshi, Yamashita, Sumimasa, Nakagawa, Taku, FujII, Takanari, Sugai, Kenji, Imai, Kaoru, Uster, Tami, Chitayat, David, Weiss, Shelly, Kashii, Hirofumi, Kusano, Ryosuke, Matsumoto, Ayumi, Nakamura, Kazuyuki, Oyazato, Yoshinobu, Maeno, Mari, Nishiyama, Kiyomi, Kodera, Hirofumi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saito, Kayoko, Hayasaka, Kiyoshi, Matsumoto, Naomichi, Saitsu, Hirotomo
Published in Epilepsia (Copenhagen) (01.07.2013)
Published in Epilepsia (Copenhagen) (01.07.2013)
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Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, Christian R., Noor, Abdul, Vincent, John B., Lionel, Anath C., Feuk, Lars, Skaug, Jennifer, Shago, Mary, Moessner, Rainald, Pinto, Dalila, Ren, Yan, Thiruvahindrapduram, Bhooma, Fiebig, Andreas, Schreiber, Stefan, Friedman, Jan, Ketelaars, Cees E.J., Vos, Yvonne J., Ficicioglu, Can, Kirkpatrick, Susan, Nicolson, Rob, Sloman, Leon, Summers, Anne, Gibbons, Clare A., Teebi, Ahmad, Chitayat, David, Weksberg, Rosanna, Thompson, Ann, Vardy, Cathy, Crosbie, Vicki, Luscombe, Sandra, Baatjes, Rebecca, Zwaigenbaum, Lonnie, Roberts, Wendy, Fernandez, Bridget, Szatmari, Peter, Scherer, Stephen W.
Published in American journal of human genetics (01.02.2008)
Published in American journal of human genetics (01.02.2008)
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Mapping the cellular origin and early evolution of leukemia in Down syndrome
Wagenblast, Elvin, Araújo, Joana, Gan, Olga I, Cutting, Sarah K, Murison, Alex, Krivdova, Gabriela, Azkanaz, Maria, McLeod, Jessica L, Smith, Sabrina A, Gratton, Blaise A, Marhon, Sajid A, Gabra, Martino, Medeiros, Jessie J F, Manteghi, Sanaz, Chen, Jian, Chan-Seng-Yue, Michelle, Garcia-Prat, Laura, Salmena, Leonardo, De Carvalho, Daniel D, Abelson, Sagi, Abdelhaleem, Mohamed, Chong, Karen, Roifman, Maian, Shannon, Patrick, Wang, Jean C Y, Hitzler, Johann K, Chitayat, David, Dick, John E, Lechman, Eric R
Published in Science (American Association for the Advancement of Science) (09.07.2021)
Published in Science (American Association for the Advancement of Science) (09.07.2021)
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CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy
Barbé, Lise, Lanni, Stella, López-Castel, Arturo, Franck, Silvie, Spits, Claudia, Keymolen, Kathelijn, Seneca, Sara, Tomé, Stephanie, Miron, Ioana, Letourneau, Julie, Liang, Minggao, Choufani, Sanaa, Weksberg, Rosanna, Wilson, Michael D., Sedlacek, Zdenek, Gagnon, Cynthia, Musova, Zuzana, Chitayat, David, Shannon, Patrick, Mathieu, Jean, Sermon, Karen, Pearson, Christopher E.
Published in American journal of human genetics (02.03.2017)
Published in American journal of human genetics (02.03.2017)
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Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
Boissel, Sarah, Fallet-Bianco, Catherine, Chitayat, David, Kremer, Valérie, Nassif, Christina, Rypens, Françoise, Delrue, Marie-Ange, Dal Soglio, Dorothée, Oligny, Luc L., Patey, Natalie, Flori, Elisabeth, Cloutier, Mireille, Dyment, David, Campeau, Philippe, Karalis, Aspasia, Nizard, Sonia, Fraser, William D., Audibert, François, Lemyre, Emmanuelle, Rouleau, Guy A., Hamdan, Fadi F., Kibar, Zoha, Michaud, Jacques L.
Published in Genetics in medicine (01.07.2018)
Published in Genetics in medicine (01.07.2018)
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Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
Hughes, Joel J., Alkhunaizi, Ebba, Kruszka, Paul, Pyle, Louise C., Grange, Dorothy K., Berger, Seth I., Payne, Katelyn K., Masser-Frye, Diane, Hu, Tommy, Christie, Michelle R., Clegg, Nancy J., Everson, Joshua L., Martinez, Ariel F., Walsh, Laurence E., Bedoukian, Emma, Jones, Marilyn C., Harris, Catharine Jean, Riedhammer, Korbinian M., Choukair, Daniela, Fechner, Patricia Y., Rutter, Meilan M., Hufnagel, Sophia B., Roifman, Maian, Kletter, Gad B., Delot, Emmanuele, Vilain, Eric, Lipinski, Robert J., Vezina, Chad M., Muenke, Maximilian, Chitayat, David
Published in American journal of human genetics (02.01.2020)
Published in American journal of human genetics (02.01.2020)
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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
Wan, Jijun, Yourshaw, Michael, Mamsa, Hafsa, Rudnik-Schöneborn, Sabine, Menezes, Manoj P, Hong, Ji Eun, Leong, Derek W, Senderek, Jan, Salman, Michael S, Chitayat, David, Seeman, Pavel, von Moers, Arpad, Graul-Neumann, Luitgard, Kornberg, Andrew J, Castro-Gago, Manuel, Sobrido, María-Jesús, Sanefuji, Masafumi, Shieh, Perry B, Salamon, Noriko, Kim, Ronald C, Vinters, Harry V, Chen, Zugen, Zerres, Klaus, Ryan, Monique M, Nelson, Stanley F, Jen, Joanna C
Published in Nature genetics (01.06.2012)
Published in Nature genetics (01.06.2012)
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Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae
Guo, Lin, Choufani, Sanaa, Ferreira, Jose, Smith, Adam, Chitayat, David, Shuman, Cheryl, Uxa, Ruchita, Keating, Sarah, Kingdom, John, Weksberg, Rosanna
Published in Developmental biology (01.08.2008)
Published in Developmental biology (01.08.2008)
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Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues
LOPEZ CASTEL, Arturo, NAKAMORI, Masayuki, TOME, Stephanie, CHITAYAT, David, GOURDON, Geneviève, THORNTON, Charles A, PEARSON, Christopher E
Published in Human molecular genetics (01.01.2011)
Published in Human molecular genetics (01.01.2011)
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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
Bonthron, David T, Goizet, Cyril, Déry, Catherine, Woods, C Geoffrey, Ali, Manir, Weschke, Bernhard, Jackson, Andrew P, Voit, Thomas, King, Mary D, Baumann, Clarisse, Till, Marianne, Quarrell, Oliver W, Crow, Yanick J, Cau, Daniel, Lacombe, Didier, Lyall, Hermione, Lanzi, Giovanni, Stephenson, John B P, Griffith, Elen, Garner, Anna, Parmar, Rekha, Lebon, Pierre, McKeown, Carole, Rogers, R Curtis, Hayward, Bruce E, Babul-Hirji, Riyana, Bertini, Enrico, Martínez-Frías, María Luisa, Monier, Anne, Leitch, Andrea, Rittey, Christopher D, Semple, Colin, Aicardi, Jean, Chitayat, David, Tolmie, John L, Ponting, Chris P, Baxter, Peter, Tacke, Uta, Mathieu, Michèle, Sanchis, Amparo, Tomlin, Pam, Oade, Yvette, Klepper, Joerg, Fazzi, Elisa, Chandler, Kate E
Published in Nature genetics (01.08.2006)
Published in Nature genetics (01.08.2006)
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The molecular and phenotypic spectrum of IQSEC2‐related epilepsy
Zerem, Ayelet, Haginoya, Kazuhiro, Lev, Dorit, Blumkin, Lubov, Kivity, Sara, Linder, Ilan, Shoubridge, Cheryl, Palmer, Elizabeth Emma, Field, Michael, Boyle, Jackie, Chitayat, David, Gaillard, William D., Kossoff, Eric H., Willems, Marjolaine, Geneviève, David, Tran‐Mau‐Them, Frederic, Epstein, Orna, Heyman, Eli, Dugan, Sarah, Masurel‐Paulet, Alice, Piton, Ame'lie, Kleefstra, Tjitske, Pfundt, Rolph, Sato, Ryo, Tzschach, Andreas, Matsumoto, Naomichi, Saitsu, Hirotomo, Leshinsky‐Silver, Esther, Lerman‐Sagie, Tally
Published in Epilepsia (Copenhagen) (01.11.2016)
Published in Epilepsia (Copenhagen) (01.11.2016)
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