De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability von Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Parker, Michael J., Archer, Hayley, Firth, Helen V., Park, Soo-Mi, Canham, Natalie, Holder, Susan E., Wilson, Meredith, Hackett, Anna, Field, Michael, Floyd, James A.B., Hurles, Matthew, Raymond, F. Lucy

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BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription von Dias, Cristina, Estruch, Sara B., Graham, Sarah A., McRae, Jeremy, Sawiak, Stephen J., Hurst, Jane A., Joss, Shelagh K., Holder, Susan E., Morton, Jenny E.V., Turner, Claire, Thevenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui F., Lee, Song-Choon, Faivre, Laurence, Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew E., Fisher, Simon E., Logan, Darren W.

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Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation von Krawitz, Peter M., Murakami, Yoshiko, Hecht, Jochen, Krüger, Ulrike, Holder, Susan E., Mortier, Geert R., Delle Chiaie, Barbara, De Baere, Elfride, Thompson, Miles D., Roscioli, Tony, Kielbasa, Szymon, Kinoshita, Taroh, Mundlos, Stefan, Robinson, Peter N., Horn, Denise

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De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome von Simpson, Michael A., Deshpande, Charu, Dafou, Dimitra, Vissers, Lisenka E.L.M., Woollard, Wesley J., Holder, Susan E., Gillessen-Kaesbach, Gabriele, Derks, Ronny, White, Susan M., Cohen-Snuijf, Ruthy, Kant, Sarina G., Hoefsloot, Lies H., Reardon, Willie, Brunner, Han G., Bongers, Ernie M.H.F., Trembath, Richard C.

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Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression von Zweier, Markus, Gregor, Anne, Zweier, Christiane, Engels, Hartmut, Sticht, Heinrich, Wohlleber, Eva, Bijlsma, Emilia K, Holder, Susan E, Zenker, Martin, Rossier, Eva, Grasshoff, Ute, Johnson, Diana S, Robertson, Lisa, Firth, Helen V, Ekici, Arif B, Reis, André, Rauch, Anita

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De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism von Zawerton, Ash, Yao, Baojin, Yeager, J. Paige, Pippucci, Tommaso, Haseeb, Abdul, Smith, Joshua D., Wischmann, Lisa, Kühl, Susanne J., Dean, John C.S., Pilz, Daniela T., Holder, Susan E., McNeill, Alisdair, Graziano, Claudio, Lefebvre, Véronique

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Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families von Jain, Vani, Foo, Seow Hoong, Chooi, Stephen, Moss, Celia, Goodwin, Richard, Berland, Siren, Clarke, Angus J, Davies, Sally J, Corrin, Sian, Murch, Oliver, Doyle, Samantha, Graham, Gail E, Greenhalgh, Lynn, Holder, Susan E, Johnson, Diana, Kumar, Ajith, Ladda, Roger L, Sell, Susan, Begtrup, Amber, Lynch, Sally A, McCann, Emma, Østern, Rune, Pottinger, Caroline, Splitt, Miranda, Fry, Andrew E

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A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism von de Smith, Adam J., Purmann, Carolin, Walters, Robin G., Ellis, Richard J., Holder, Susan E., Van Haelst, Mieke M., Brady, Angela F., Fairbrother, Una L., Dattani, Mehul, Keogh, Julia M., Henning, Elana, Yeo, Giles S.H., O'Rahilly, Stephen, Froguel, Philippe, Farooqi, I. Sadaf, Blakemore, Alexandra I.F.

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De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism von Zawerton, Ash, Yao, Baojin, Yeager, J. Paige, Pippucci, Tommaso, Haseeb, Abdul, Smith, Joshua D., Wischmann, Lisa, Kühl, Susanne J., Dean, John C.S., Pilz, Daniela T., Holder, Susan E., McNeill, Alisdair, Graziano, Claudio, Lefebvre, Véronique

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CCDC88A mutations cause PEHO-like syndrome in humans and mouse von Nahorski, Michael S, Asai, Masato, Wakeling, Emma, Parker, Alasdair, Asai, Naoya, Canham, Natalie, Holder, Susan E, Chen, Ya-Chun, Dyer, Joshua, Brady, Angela F, Takahashi, Masahide, Woods, C Geoffrey

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Digenic inheritance of mutations in FOXC1 and PITX2 : Correlating transcription factor function and axenfeld-rieger disease severity von Kelberman, Daniel, Islam, Lily, Holder, Susan E., Jacques, Thomas S., Calvas, Patrick, Hennekam, Raoul C., Nischal, Ken K., Sowden, Jane C.

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A late presentation of Loeys–Dietz syndrome: joint hypermobility is not always benign von Mehta, Puja, Holder, Susan E., Fisher, Benjamin, Vincent, Tonia L.

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Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis von Smith, Miriam J., Kulkarni, Anjana, Rustad, Cecilie, Bowers, Naomi L., Wallace, Andrew J., Holder, Susan E., Heiberg, Arvid, Ramsden, Richard T., Evans, D. Gareth

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Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by... von Vandersteen, Anthony M., Lund, Allan M., Ferguson, David J.P., Sawle, Philip, Pollitt, Rebecca C., Holder, Susan E., Wakeling, Emma, Moat, Neil, Pope, F. Michael

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Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems von de Smith, Adam J., van Haelst, Mieke M., Ellis, Richard J., Holder, Susan E., Payne, Stewart J., Hashim, Sugera K., Froguel, Philippe, Blakemore, Alexandra I.F.

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De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay von YING YUE, GROSSMANN, Baerbel, HOLDER, Susan E, HAAF, Thomas

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Adams–Oliver Syndrome with Widespread CMTC and Fatal Pulmonary Vascular Disease von Dadzie, Ophelia Entsir, Tyszczuk, Lidia, Holder, Susan E., Teixeira, Fernanda, Charakida, Aikaterina, Scarisbrick, Julia, Chu, Anthony

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Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report von Wakeling, Emma L, Dattani, Mehul T, Bloch-Zupan, A, Winter, Robin M, Holder, Susan E

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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism von Ansari, Morad, Poke, Gemma, Ferry, Quentin, Williamson, Kathleen, Aldridge, Roland, Meynert, Alison M, Bengani, Hemant, Chan, Cheng Yee, Kayserili, Hülya, Avci, Şahin, Hennekam, Raoul C M, Lampe, Anne K, Redeker, Egbert, Homfray, Tessa, Ross, Alison, Falkenberg Smeland, Marie, Mansour, Sahar, Parker, Michael J, Cook, Jacqueline A, Splitt, Miranda, Fisher, Richard B, Fryer, Alan, Magee, Alex C, Wilkie, Andrew, Barnicoat, Angela, Brady, Angela F, Cooper, Nicola S, Mercer, Catherine, Deshpande, Charu, Bennett, Christopher P, Pilz, Daniela T, Ruddy, Deborah, Cilliers, Deirdre, Johnson, Diana S, Josifova, Dragana, Rosser, Elisabeth, Thompson, Elizabeth M, Wakeling, Emma, Kinning, Esther, Stewart, Fiona, Flinter, Frances, Girisha, Katta M, Cox, Helen, Firth, Helen V, Kingston, Helen, Wee, Jamie S, Hurst, Jane A, Clayton-Smith, Jill, Tolmie, John, Vogt, Julie, Tatton–Brown, Katrina, Chandler, Kate, Prescott, Katrina, Wilson, Louise, Behnam, Mahdiyeh, McEntagart, Meriel, Davidson, Rosemarie, Lynch, Sally-Ann, Sisodiya, Sanjay, Mehta, Sarju G, McKee, Shane A, Mohammed, Shehla, Holden, Simon, Park, Soo-Mi, Holder, Susan E, Harrison, Victoria, McConnell, Vivienne, Lam, Wayne K, Green, Andrew J, Donnai, Dian, Bitner-Glindzicz, Maria, Donnelly, Deirdre E, Nellåker, Christoffer, Taylor, Martin S, FitzPatrick, David R

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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction von Lenaerts, Lisa, Reynhout, Sara, Verbinnen, Iris, Laumonnier, Frédéric, Toutain, Annick, Bonnet-Brilhault, Frédérique, Hoorne, Yana, Joss, Shelagh, Chassevent, Anna K., Smith-Hicks, Constance, Loeys, Bart, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mehta, Sarju G., Chung, Wendy K., Devriendt, Koenraad, Holder, Susan E., Jewett, Tamison, Baldwin, Lauren M., Wilson, William G., Towner, Shelley, Srivastava, Siddharth, Johnson, Hannah F., Daumer-Haas, Cornelia, Baethmann, Martina, Ruiz, Anna, Gabau, Elisabeth, Jain, Vani, Varghese, Vinod, Al-Beshri, Ali, Fulton, Stephen, Wechsberg, Oded, Orenstein, Naama, Prescott, Katrina, Childs, Anne-Marie, Faivre, Laurence, Moutton, Sébastien, Sullivan, Jennifer A., Shashi, Vandana, Koudijs, Suzanne M., Heijligers, Malou, Kivuva, Emma, McTague, Amy, Male, Alison, van Ierland, Yvette, Plecko, Barbara, Maystadt, Isabelle, Hamid, Rizwan, Hannig, Vickie L., Houge, Gunnar, Janssens, Veerle

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