Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy von Ravenscroft, Gianina, Miyatake, Satoko, Lehtokari, Vilma-Lotta, Todd, Emily J., Vornanen, Pauliina, Yau, Kyle S., Hayashi, Yukiko K., Miyake, Noriko, Tsurusaki, Yoshinori, Doi, Hiroshi, Saitsu, Hirotomo, Osaka, Hitoshi, Yamashita, Sumimasa, Ohya, Takashi, Sakamoto, Yuko, Koshimizu, Eriko, Imamura, Shintaro, Yamashita, Michiaki, Ogata, Kazuhiro, Shiina, Masaaki, Bryson-Richardson, Robert J., Vaz, Raquel, Ceyhan, Ozge, Brownstein, Catherine A., Swanson, Lindsay C., Monnot, Sophie, Romero, Norma B., Amthor, Helge, Kresoje, Nina, Sivadorai, Padma, Kiraly-Borri, Cathy, Haliloglu, Goknur, Talim, Beril, Orhan, Diclehan, Kale, Gulsev, Charles, Adrian K., Fabian, Victoria A., Davis, Mark R., Lammens, Martin, Sewry, Caroline A., Manzur, Adnan, Muntoni, Francesco, Clarke, Nigel F., North, Kathryn N., Bertini, Enrico, Nevo, Yoram, Willichowski, Ekkhard, Silberg, Inger E., Topaloglu, Haluk, Beggs, Alan H., Allcock, Richard J.N., Nishino, Ichizo, Wallgren-Pettersson, Carina, Matsumoto, Naomichi, Laing, Nigel G.

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Population‐based screening for Lynch syndrome in Western Australia von Schofield, Lyn, Grieu, Fabienne, Amanuel, Benhur, Carrello, Amerigo, Spagnolo, Dominic, Kiraly, Cathy, Pachter, Nicholas, Goldblatt, Jack, Platell, Cameron, Levitt, Michael, Stewart, Colin, Salama, Paul, Ee, Hooi, Raftopoulous, Spiro, Katris, Paul, Threlfall, Tim, Edkins, Edward, Wallace, Marina, Iacopetta, Barry

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The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service von Baynam, Gareth, Pachter, Nicholas, McKenzie, Fiona, Townshend, Sharon, Slee, Jennie, Kiraly-Borri, Cathy, Vasudevan, Anand, Hawkins, Anne, Broley, Stephanie, Schofield, Lyn, Verhoef, Hedwig, Walker, Caroline E, Molster, Caron, Blackwell, Jenefer M, Jamieson, Sarra, Tang, Dave, Lassmann, Timo, Mina, Kym, Beilby, John, Davis, Mark, Laing, Nigel, Murphy, Lesley, Weeramanthri, Tarun, Dawkins, Hugh, Goldblatt, Jack

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A flexible computational pipeline for research analyses of unsolved clinical exome cases von Lassmann, Timo, Francis, Richard W., Weeks, Alexia, Tang, Dave, Jamieson, Sarra E., Broley, Stephanie, Dawkins, Hugh J. S., Dreyer, Lauren, Goldblatt, Jack, Groza, Tudor, Kamien, Benjamin, Kiraly-Borri, Cathy, McKenzie, Fiona, Murphy, Lesley, Pachter, Nicholas, Pathak, Gargi, Poulton, Cathryn, Samanek, Amanda, Skoss, Rachel, Slee, Jennie, Townshend, Sharron, Ward, Michelle, Baynam, Gareth S., Blackwell, Jenefer M.

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Initiating an undiagnosed diseases program in the Western Australian public health system von Baynam, Gareth, Broley, Stephanie, Bauskis, Alicia, Pachter, Nicholas, McKenzie, Fiona, Townshend, Sharron, Slee, Jennie, Kiraly-Borri, Cathy, Vasudevan, Anand, Hawkins, Anne, Schofield, Lyn, Helmholz, Petra, Palmer, Richard, Kung, Stefanie, Walker, Caroline E, Molster, Caron, Lewis, Barry, Mina, Kym, Beilby, John, Pathak, Gargi, Poulton, Cathryn, Groza, Tudor, Zankl, Andreas, Roscioli, Tony, Dinger, Marcel E, Mattick, John S, Gahl, William, Groft, Stephen, Tifft, Cynthia, Taruscio, Domenica, Lasko, Paul, Kosaki, Kenjiro, Wilhelm, Helene, Melegh, Bela, Carapetis, Jonathan, Jana, Sayanta, Chaney, Gervase, Johns, Allison, Owen, Peter Wynn, Daly, Frank, Weeramanthri, Tarun, Dawkins, Hugh, Goldblatt, Jack

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Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome von Dagar, Vinod, Hutchison, Wendy, Muscat, Andrea, Krishnan, Anita, Hoke, David, Buckle, Ashley, Siswara, Priscillia, Amor, David J, Mann, Jeffrey, Pinner, Jason, Colley, Alison, Wilson, Meredith, Sachdev, Rani, McGillivray, George, Edwards, Matthew, Kirk, Edwin, Collins, Felicity, Jones, Kristi, Taylor, Juliet, Hayes, Ian, Thompson, Elizabeth, Barnett, Christopher, Haan, Eric, Freckmann, Mary-Louise, Turner, Anne, White, Susan, Kamien, Ben, Ma, Alan, Mackenzie, Fiona, Baynam, Gareth, Kiraly-Borri, Cathy, Field, Michael, Dudding-Byth, Tracey, Algar, Elizabeth M

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Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant von Li, Jun, Woods, Susan L., Healey, Sue, Beesley, Jonathan, Chen, Xiaoqing, Lee, Jason S., Sivakumaran, Haran, Wayte, Nicci, Nones, Katia, Waterfall, Joshua J., Pearson, John, Patch, Anne-Marie, Senz, Janine, Ferreira, Manuel A., Kaurah, Pardeep, Mackenzie, Robertson, Heravi-Moussavi, Alireza, Hansford, Samantha, Lannagan, Tamsin R.M., Spurdle, Amanda B., Simpson, Peter T., da Silva, Leonard, Lakhani, Sunil R., Clouston, Andrew D., Bettington, Mark, Grimpen, Florian, Busuttil, Rita A., Di Costanzo, Natasha, Boussioutas, Alex, Jeanjean, Marie, Chong, George, Fabre, Aurélie, Olschwang, Sylviane, Faulkner, Geoffrey J., Bellos, Evangelos, Coin, Lachlan, Rioux, Kevin, Bathe, Oliver F., Wen, Xiaogang, Martin, Hilary C., Neklason, Deborah W., Davis, Sean R., Walker, Robert L., Calzone, Kathleen A., Avital, Itzhak, Heller, Theo, Koh, Christopher, Pineda, Marbin, Rudloff, Udo, Quezado, Martha, Pichurin, Pavel N., Hulick, Peter J., Weissman, Scott M., Newlin, Anna, Rubinstein, Wendy S., Sampson, Jone E., Hamman, Kelly, Goldgar, David, Poplawski, Nicola, Phillips, Kerry, Schofield, Lyn, Armstrong, Jacqueline, Kiraly-Borri, Cathy, Suthers, Graeme K., Huntsman, David G., Foulkes, William D., Carneiro, Fatima, Lindor, Noralane M., Edwards, Stacey L., French, Juliet D., Waddell, Nicola, Meltzer, Paul S., Worthley, Daniel L., Schrader, Kasmintan A., Chenevix-Trench, Georgia

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Atypical nested 22q11.2 duplications between LCR 22B and LCR 22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance von Woodward, Karen J., Stampalia, Julie, Vanyai, Hannah, Rijhumal, Hashika, Potts, Kim, Taylor, Fiona, Peverall, Joanne, Grumball, Tanya, Sivamoorthy, Soruba, Alinejad‐Rokny, Hamid, Wray, John, Whitehouse, Andrew, Nagarajan, Lakshmi, Scurlock, Jacqueline, Afchani, Sabine, Edwards, Matthew, Murch, Ashleigh, Beilby, John, Baynam, Gareth, Kiraly‐Borri, Cathy, McKenzie, Fiona, Heng, Julian I. T.

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Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance von Woodward, Karen J., Stampalia, Julie, Vanyai, Hannah, Rijhumal, Hashika, Potts, Kim, Taylor, Fiona, Peverall, Joanne, Grumball, Tanya, Sivamoorthy, Soruba, Alinejad‐Rokny, Hamid, Wray, John, Whitehouse, Andrew, Nagarajan, Lakshmi, Scurlock, Jacqueline, Afchani, Sabine, Edwards, Matthew, Murch, Ashleigh, Beilby, John, Baynam, Gareth, Kiraly‐Borri, Cathy, McKenzie, Fiona, Heng, Julian I. T.

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Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors von Marques, Pedro, Caimari, Francisca, Hernández-Ramírez, Laura C, Collier, David, Iacovazzo, Donato, Ronaldson, Amy, Magid, Kesson, Lim, Chung Thong, Stals, Karen, Ellard, Sian, Grossman, Ashley B, Korbonits, Márta

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A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign von Baynam, Gareth, Kiraly‐Borri, Cathy, Goldblatt, Jack, Dickinson, Jan E., Jevon, Gareth P., Overkov, Angela

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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly von Braun, Daniela A, Rao, Jia, Mollet, Geraldine, Schapiro, David, Daugeron, Marie-Claire, Tan, Weizhen, Gribouval, Olivier, Boyer, Olivia, Revy, Patrick, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Lawson, Jennifer A, Schanze, Denny, Ashraf, Shazia, Ullmann, Jeremy F P, Hoogstraten, Charlotte A, Boddaert, Nathalie, Collinet, Bruno, Martin, Gaëlle, Liger, Dominique, Lovric, Svjetlana, Furlano, Monica, Guerrera, I Chiara, Sanchez-Ferras, Oraly, Hu, Jennifer F, Boschat, Anne-Claire, Sanquer, Sylvia, Menten, Björn, Vergult, Sarah, De Rocker, Nina, Airik, Merlin, Hermle, Tobias, Shril, Shirlee, Widmeier, Eugen, Gee, Heon Yung, Choi, Won-Il, Sadowski, Carolin E, Pabst, Werner L, Warejko, Jillian K, Daga, Ankana, Basta, Tamara, Matejas, Verena, Scharmann, Karin, Kienast, Sandra D, Behnam, Babak, Beeson, Brendan, Begtrup, Amber, Bruce, Malcolm, Ch'ng, Gaik-Siew, Lin, Shuan-Pei, Chang, Jui-Hsing, Chen, Chao-Huei, Cho, Megan T, Gaffney, Patrick M, Gipson, Patrick E, Hsu, Chyong-Hsin, Kari, Jameela A, Ke, Yu-Yuan, Kiraly-Borri, Cathy, Lai, Wai-ming, Lemyre, Emmanuelle, Littlejohn, Rebecca Okashah, Masri, Amira, Moghtaderi, Mastaneh, Nakamura, Kazuyuki, Ozaltin, Fatih, Praet, Marleen, Prasad, Chitra, Roeder, Elizabeth R, Rump, Patrick, Schnur, Rhonda E, Shiihara, Takashi, Sinha, Manish D, Soliman, Neveen A, Soulami, Kenza, Sweetser, David A, Tsai, Wen-Hui, Tsai, Jeng-Daw, Topaloglu, Rezan, Vester, Udo, Viskochil, David H, Vatanavicharn, Nithiwat, Wierenga, Klaas J, Wolf, Matthias T F, Wong, Sik-Nin, Leidel, Sebastian A, Truglio, Gessica, Dedon, Peter C, Poduri, Annapurna, Mane, Shrikant, Lifton, Richard P, Bouchard, Maxime, Kannu, Peter, Chitayat, David, Magen, Daniella, Callewaert, Bert, van Tilbeurgh, Herman, Zenker, Martin, Antignac, Corinne, Hildebrandt, Friedhelm

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Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers von Hernández-Ramírez, Laura C, Gabrovska, Plamena, Dénes, Judit, Stals, Karen, Trivellin, Giampaolo, Tilley, Daniel, Ferraù, Francesco, Evanson, Jane, Ellard, Sian, Grossman, Ashley B, Roncaroli, Federico, Gadelha, Mônica R, Korbonits, Márta

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Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth von Todd, Emily J, Yau, Kyle S, Ong, Royston, Slee, Jennie, McGillivray, George, Barnett, Christopher P, Haliloglu, Goknur, Talim, Beril, Akcoren, Zuhal, Kariminejad, Ariana, Cairns, Anita, Clarke, Nigel F, Freckmann, Mary-Louise, Romero, Norma B, Williams, Denise, Sewry, Caroline A, Colley, Alison, Ryan, Monique M, Kiraly-Borri, Cathy, Sivadorai, Padma, Allcock, Richard J N, Beeson, David, Maxwell, Susan, Davis, Mark R, Laing, Nigel G, Ravenscroft, Gianina

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Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) — Further extension of the mutational spectrum von Jamsheer, Aleksander, Sowińska-Seidler, Anna, Socha, Magdalena, Stembalska, Agnieszka, Kiraly-Borri, Cathy, Latos-Bieleńska, Anna

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Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly von Braun, Daniela A., Rao, Jia, Mollet, Geraldine, Schapiro, David, Daugeron, Marie-Claire, Tan, Weizhen, Gribouval, Olivier, Boyer, Olivia, Revy, Patrick, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Lawson, Jennifer A., Schanze, Denny, Ashraf, Shazia, Boddaert, Nathalie, Collinet, Bruno, Martin, Gaëlle, Liger, Dominique, Lovric, Svjetlana, Furlano, Monica, Guerrera, I. Chiara, Sanchez-Ferras, Oraly, Menten, Björn, Vergult, Sarah, De Rocker, Nina, Airik, Merlin, Hermle, Tobias, Shril, Shirlee, Widmeier, Eugen, Gee, Heon Yung, Choi, Won-Il, Sadowski, Carolin E., Pabst, Werner L., Warejko, Jillian, Daga, Ankana, LeBerre, Tamara Basta, Matejas, Verena, Behnam, Babak, Beeson, Brendan, Begtrup, Amber, Bruce, Malcolm, Ch'ng, Gaik-Siew, Lin, Shuan-Pei, Chang, Jui-Hsing, Chen, Chao-Huei, Cho, Megan T., Gipson, Patrick E., Hsu, Chyong-Hsin, Kari, Jameela A., Ke, Yu-Yuan, Kiraly-Borri, Cathy, Lai, Wai-ming, Lemyre, Emmanuelle, Littlejohn, Rebecca Okasha, Masri, Amira, Moghtaderi, Mastaneh, Nakamura, Kazuyuki, Praet, Marleen, Prasad, Chitra, Prytula, Agnieszka, Roeder, Elizabeth, Rump, Patrick, Schnur, Rhonda E., Shiihara, Takashi, Sinha, Manish, Soliman, Neveen A, Soulami, Kenza, Sweetser, David A., Tsai, Wen-Hui, Tsai, Jeng-Daw, Vester, Udo, Viskochil, David H., Vatanavicharn, Nithiwat, Waxler, Jessica L., Wolf, Matthias T.F., Wong, Sik-Nin, Poduri, Annapurna, Truglio, Gessica, Mane, Shrikant, Lifton, Richard P., Bouchard, Maxime, Kannu, Peter, Chitayat, David, Magen, Daniella, Calleweart, Bert, van Tilbeurgh, Herman, Zenker, Martin, Antignac, Corinne, Hildebrandt, Friedhelm

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AB002. The rare and undiagnosed diseases diagnostic service von Baynam, Gareth, Pachter, Nicholas, McKenzie, Fiona, Townshend, Sharon, Slee, Jennie, Kiraly-Borri, Cathy, Vasudevan, Anand, Hawkins, Anne, Broley, Stephanie, Schofield, Lyn, Graham, Caroline, Mina, Kym, Beilby, John, Davis, Mark, Weeramanthri, Tarun, Dawkins, Hugh, Goldblatt, Jack

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Analysis of genes encoding laminin beta 2 and related proteins in patients with Galloway-Mowat syndrome von Dietrich, Andreas, Matejas, Verena, Bitzan, Martin, Hashmi, Seema, Kiraly-Borri, Cathy, Lin, Shuan-Pei, Mildenberger, Eva, Hoppe, Bernd, Palm, Lars, Shiihara, Takashi, Steiss, Jens-Oliver, Tsai, Jeng-Daw, Vester, Udo, Weber, Stefanie, Wuehl, Elke, Zepf, Kristina, Zenker, Martin

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Analysis of genes encoding laminin β2 and related proteins in patients with Galloway–Mowat syndrome von Dietrich, Andreas, Matejas, Verena, Bitzan, Martin, Hashmi, Seema, Kiraly-Borri, Cathy, Lin, Shuan-Pei, Mildenberger, Eva, Hoppe, Bernd, Palm, Lars, Shiihara, Takashi, Steiss, Jens-Oliver, Tsai, Jeng-Daw, Vester, Udo, Weber, Stefanie, Wühl, Elke, Zepf, Kristina, Zenker, Martin

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Additional file 2: of Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome von Dagar, Vinod, Hutchison, Wendy, Muscat, Andrea, Krishnan, Anita, Hoke, David, Buckle, Ashley, Siswara, Priscillia, Amor, David, Mann, Jeffrey, Pinner, Jason, Colley, Alison, Wilson, Meredith, Sachdev, Rani, McGillivray, George, Edwards, Matthew, Kirk, Edwin, Collins, Felicity, Jones, Kristi, Taylor, Juliet, Hayes, Ian, Thompson, Elizabeth, Barnett, Christopher, Haan, Eric, Freckmann, Mary-Louise, Turner, Anne, White, Susan, Kamien, Ben, Ma, Alan, Mackenzie, Fiona, Baynam, Gareth, Kiraly-Borri, Cathy, Field, Michael, Dudding-Byth, Tracey, Algar, Elizabeth

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