未登录 Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study Loong, Lucy; Tardivo, Agostina; Knaus, Alexej; Hashim, Mona; Pagnamenta, Alistair T.; Alt, Kerstin; Boehrer-Rabel, Helena; Caro-Llopis, Alfonso; Cole, Trevor; Distelmaier, Felix; Edery, Patrick; Ferreira, Carlos R.; Jezela-Stanek, Aleksandra; Kerr, Bronwyn; Kluger, Gerhard; Krawitz, Peter M.; Kuhn, Marius; Lemke, Johannes R.; Lesca, Gaetan; Lynch, Sally Ann; Martinez, Francisco; Maxton, Caroline; Mierzewska, Hanna; Monfort, Sandra; Nicolai, Joost; Orellana, Carmen; Pal, Deb K.; Ploski, Rafal; Quarrell, Oliver W.; Rosello, Monica; Rydzanicz, Malgorzata; Sabir, Ataf; Smigiel, Robert; Stegmann, Alexander P. A.; Stewart, Helen; Stumpel, Constance; Szczepanik, Elzbieta; Tzschach, Andreas; Wolfe, Lynne; Taylor, Jenny C.; Murakami, Yoshiko; Kinoshita, Taroh; Bayat, Allan; Kini, Usha 分享 收藏
Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies Gerrish, Amy; Bowns, Benjamin; Mashayamombe-Wolfgarten, Chipo; Young, Elizabeth; Court, Samantha; Bott, Joshua; McCalla, Maureen; Ramsden, Simon; Parks, Michael; Goudie, David; Carless, Sue; Clokie, Samuel; Cole, Trevor; Allen, Stephanie 分享 收藏
Clinical Service Delivery of Noninvasive Prenatal Diagnosis by Relative Haplotype Dosage for Single-Gene Disorders Young, Elizabeth; Bowns, Benjamin; Gerrish, Amy; Parks, Michael; Court, Samantha; Clokie, Samuel; Mashayamombe-Wolfgarten, Chipo; Hewitt, Julie; Williams, Denise; Cole, Trevor; Allen, Stephanie 分享 收藏
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency Lamb-shaffer综合征的遗传和临床谱的扩大，这是由于SOX5单倍体不足引起的神经发育障碍 Zawerton, Ash; Mignot, Cyril; Sigafoos, Ashley; Blackburn, Patrick R.; Haseeb, Abdul; McWalter, Kirsty; Ichikawa, Shoji; Nava, Caroline; Keren, Boris; Charles, Perrine; Marey, Isabelle; Tabet, Anne-Claude; Levy, Jonathan; Perrin, Laurence; Hartmann, Andreas; Lesca, Gaetan; Schluth-Bolard, Caroline; Monin, Pauline; Dupuis-Girod, Sophie; Guillen Sacoto, Maria J.; Schnur, Rhonda E.; Zhu, Zehua; Poisson, Alice; El Chehadeh, Salima; Alembik, Yves; Bruel, Ange-Line; Lehalle, Daphne; Nambot, Sophie; Moutton, Sebastien; Odent, Sylvie; Jaillard, Sylvie; Dubourg, Christele; Hilhorst-Hofstee, Yvonne; Barbaro-Dieber, Tina; Ortega, Lucia; Bhoj, Elizabeth J.; Masser-Frye, Diane; Bird, Lynne M.; Lindstrom, Kristin; Ramsey, Keri M.; Narayanan, Vinodh; Fassi, Emily; Willing, Marcia; Cole, Trevor; Salter, Claire G.; Akilapa, Rhoda; Vandersteen, Anthony; Canham, Natalie; Rump, Patrick; Gerkes, Erica H.; Klein Wassink-Ruiter, Jolien S.; Bijlsma, Emilia; Hoffer, Mariette J. V.; Vargas, Marcelo; Wojcik, Antonina; Cherik, Florian; Francannet, Christine; Rosenfeld, Jill A.; Machol, Keren; Scott, Daryl A.; Bacino, Carlos A.; Wang, Xia; Clark, Gary D.; Bertoli, Marta; Zwolinski, Simon; Thomas, Rhys H.; Akay, Ela; Chang, Richard C.; Bressi, Rebekah; Sanchez Russo, Rossana; Srour, Myriam; Russell, Laura; Goyette, Anne-Marie E.; Dupuis, Lucie; Mendoza-Londono, Roberto; Karimov, Catherine; Joseph, Maries; Nizon, Mathilde; Cogne, Benjamin; Kuechler, Alma; Piton, Amelie; Klee, Eric W.; Lefebvre, Veronique; Clark, Karl J.; Depienne, Christel 分享 收藏
分享 收藏
Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling Lippincott, Margaret F.; Leon, Silvia; Chan, Yee-Ming; Fergani, Chrysanthi; Talbi, Rajae; Farooqi, I. Sadaf; Jones, Christopher M.; Arlt, Wiebke; Stewart, Susan E.; Cole, Trevor R.; Terasawa, Ei; Hall, Janet E.; Shaw, Natalie D.; Navarro, Victor M.; Seminara, Stephanie Beth 分享 收藏
Identification of new Wilms tumour predisposition genes: an exome sequencing study Mahamdallie, Shazia; Yost, Shawn; Poyastro-Pearson, Emma; Holt, Esty; Zachariou, Anna; Seal, Sheila; Elliott, Anna; Clarke, Matthew; Warren-Perry, Margaret; Hanks, Sandra; Anderson, John; Bomken, Simon; Cole, Trevor; Farah, Roula; Furtwaengler, Rhoikos; Glaser, Adam; Grundy, Richard; Hayden, James; Lowis, Steve; Millot, Frederic; Nicholson, James; Ronghe, Milind; Skeen, Jane; Williams, Denise; Yeomanson, Daniel; Ruark, Elise; Rahman, Nazneen 分享 收藏
Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour Gerrish, Amy; Stone, Edward; Clokie, Samuel; Ainsworth, John R.; Jenkinson, Helen; McCalla, Maureen; Hitchcott, Carol; Colmenero, Isabel; Allen, Stephanie; Parulekar, Manoj; Cole, Trevor 分享 收藏
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing Sanchis-Juan, Alba; Stephens, Jonathan; French, Courtney E.; Gleadall, Nicholas; Megy, Karyn; Penkett, Christopher; Shamardina, Olga; Stirrups, Kathleen; Delon, Isabelle; Dewhurst, Eleanor; Dolling, Helen; Erwood, Marie; Grozeva, Detelina; Stefanucci, Luca; Arno, Gavin; Webster, Andrew R.; Cole, Trevor; Austin, Topun; Branco, Ricardo Garcia; Ouwehand, Willem H.; Raymond, F. Lucy; Carss, Keren J. 分享 收藏
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome Pathak, Sagar J.; Mueller, James L.; Okamoto, Kevin; Das, Barun; Hertecant, Jozef; Greenhalgh, Lynn; Cole, Trevor; Pinsk, Vered; Yerushalmi, Baruch; Gurkan, Odul E.; Yourshaw, Michael; Hernandez, Erick; Oesterreicher, Sandy; Naik, Sandhia; Sanderson, Ian R.; Axelsson, Irene; Agardh, Daniel; Boland, C. Richard; Martin, Martin G.; Putnam, Christopher D.; Sivagnanam, Mamata 分享 收藏
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes Whitworth, James; Smith, Philip S.; Martin, Jose-Ezequiel; West, Hannah; Luchetti, Andrea; Rodger, Faye; Clark, Graeme; Carss, Keren; Stephens, Jonathan; Stirrups, Kathleen; Penkett, Chris; Mapeta, Rutendo; Ashford, Sofie; Megy, Karyn; Shakeel, Hassan; Ahmed, Munaza; Adlard, Julian; Barwell, Julian; Brewer, Carole; Casey, Ruth T.; Armstrong, Ruth; Cole, Trevor; Evans, Dafydd Gareth; Fostira, Florentia; Greenhalgh, Lynn; Hanson, Helen; Henderson, Alex; Hoffman, Jonathan; Izatt, Louise; Kumar, Ajith; Kwong, Ava; Lalloo, Fiona; Ong, Kai Ren; Paterson, Joan; Park, Soo-Mi; Chen-Shtoyerman, Rakefet; Searle, Claire; Side, Lucy; Skytte, Anne-Bine; Snape, Katie; Woodward, Emma R.; Tischkowitz, Marc D.; Maher, Eamonn R. 分享 收藏
Further delineation of Malan syndrome Priolo, Manuela; Schanze, Denny; Tatton-Brown, Katrin; Mulder, Paul A.; Tenorio, Jair; Kooblall, Kreepa; Hernandez Acero, Ines; Alkuraya, Fowzan S.; Arias, Pedro; Bernardini, Laura; Bijlsma, Emilia K.; Cole, Trevor; Coubes, Christine; Dapia, Irene; Davies, Sally; Di Donato, Nataliya; Elcioglu, Nursel H.; Fahrner, Jill A.; Foster, Alison; Garcia Gonzalez, Noelia; Huber, Ilka; Iascone, Maria; Kaiser, Ann-Sophie; Kamath, Arveen; Liebelt, Jan; Lynch, Sally Ann; Maas, Saskia M.; Mammi, Corrado; Mathijssen, Inge B.; McKee, Shane; Menke, Leonie A.; Mirzaa, Ghayda M.; Montgomery, Tara; Neubauer, Dorothee; Neumann, Thomas E.; Pintomalli, Letizia; Pisanti, Maria Antonietta; Plomp, Astrid S.; Price, Sue; Salter, Claire; Santos-Simarro, Fernando; Sarda, Pierre; Segovia, Mabel; Shaw-Smith, Charles; Smithson, Sarah; Suri, Mohnish; Maria Valdez, Rita; Van Haeringen, Arie; Van Hagen, Johanna M.; Zollino, Marcela; Lapunzina, Pablo; Thakker, Rajesh V.; Zenker, Martin; Hennekam, Raoul C. 分享 收藏
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD Andrews, Katrina A.; Ascher, David B.; Pires, Douglas Eduardo Valente; Barnes, Daniel R.; Vialard, Lindsey; Casey, Ruth T.; Bradshaw, Nicola; Adlard, Julian; Aylwin, Simon; Brennan, Paul; Brewer, Carole; Cole, Trevor; Cook, Jackie A.; Davidson, Rosemarie; Donaldson, Alan; Fryer, Alan; Greenhalgh, Lynn; Hodgson, Shirley V.; Irving, Richard; Lalloo, Fiona; McConachie, Michelle; McConnell, Vivienne P. M.; Morrison, Patrick J.; Murday, Victoria; Park, Soo-Mi; Simpson, Helen L.; Snape, Katie; Stewart, Susan; Tomkins, Susan E.; Wallis, Yvonne; Izatt, Louise; Goudie, David; Lindsay, Robert S.; Perry, Colin G.; Woodward, Emma R.; Antoniou, Antonis C.; Maher, Eamonn R. 分享 收藏
Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement Brioude, Frederic; Kalish, Jennifer M.; Mussa, Alessandro; Foster, Alison C.; Bliek, Jet; Ferrero, Giovanni Battista; Boonen, Susanne E.; Cole, Trevor; Baker, Robert; Bertoletti, Monica; Cocchi, Guido; Coze, Carole; De Pellegrin, Maurizio; Hussain, Khalid; Ibrahim, Abdulla; Kilby, Mark D.; Krajewska-Walasek, Malgorzata; Kratz, Christian P.; Ladusans, Edmund J.; Lapunzina, Pablo; Le Bouc, Yves; Maas, Saskia M.; Macdonald, Fiona; Ounap, Katrin; Peruzzi, Licia; Rossignol, Sylvie; Russo, Silvia; Shipster, Caroleen; Skorka, Agata; Tatton-Brown, Katrina; Tenorio, Jair; Tortora, Chiara; Gronskov, Karen; Netchine, Irene; Hennekam, Raoul C.; Prawitt, Dirk; Tumer, Zeynep; Eggermann, Thomas; Mackay, Deborah J. G.; Riccio, Andrea; Maher, Eamonn R. 分享 收藏
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability Hamilton, Mark J.; Caswell, Richard C.; Canham, Natalie; Cole, Trevor; Firth, Helen V.; Foulds, Nicola; Heimdal, Ketil; Hobson, Emma; Houge, Gunnar; Joss, Shelagh; Kumar, Dhavendra; Lampe, Anne Katrin; Maystadt, Isabelle; McKay, Victoria; Metcalfe, Kay; Newbury-Ecob, Ruth; Park, Soo-Mi; Robert, Leema; Rustad, Cecilie F.; Wakeling, Emma; Wilkie, Andrew O. M.; Twigg, Stephen R. F.; Suri, Mohnish 分享 收藏
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism 编码 β-klotho的KLB在先天性低促性腺激素性性腺功能减退症患者中发生突变 Xu, Cheng; Messina, Andrea; Somm, Emmanuel; Miraoui, Hichem; Kinnunen, Tarja; Acierno, James, Jr.; Niederlander, Nicolas J.; Bouilly, Justine; Dwyer, Andrew A.; Sidis, Yisrael; Cassatella, Daniele; Sykiotis, Gerasimos P.; Quinton, Richard; De Geyter, Christian; Dirlewanger, Mirjam; Schwitzgebel, Valerie; Cole, Trevor R.; Toogood, Andrew A.; Kirk, Jeremy M. W.; Plummer, Lacey; Albrecht, Urs; Crowley, William F., Jr.; Mohammadi, Moosa; Tena-Sempere, Manuel; Prevot, Vincent; Pitteloud, Nelly 分享 收藏
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability 表观遗传调控基因突变是智力障碍过度生长的主要原因 Tatton-Brown, Katrina; Loveday, Chey; Yost, Shawn; Clarke, Matthew; Ramsay, Emma; Zachariou, Anna; Elliott, Anna; Wylie, Harriet; Ardissone, Anna; Rittinger, Olaf; Stewart, Fiona; Temple, I. Karen; Cole, Trevor; Mahamdallie, Shazia; Seal, Sheila; Ruark, Elise; Rahman, Nazneen 分享 收藏
Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect Webb, Emma A.; Balasubramanian, Meena; Fratzl-Zelman, Nadja; Cabral, Wayne A.; Titheradge, Hannah; Alsaedi, Atif; Saraff, Vrinda; Vogt, Julie; Cole, Trevor; Stewart, Susan; Crabtree, Nicola J.; Sargent, Brandi M.; Gamsjaeger, Sonja; Paschalis, Eleftherios P.; Roschger, Paul; Klaushofer, Klaus; Shaw, Nick J.; Marini, Joan C.; Hogler, Wolfgang 分享 收藏
Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage Parks, Michael; Court, Samantha; Bowns, Benjamin; Cleary, Siobhan; Clokie, Samuel; Hewitt, Julie; Williams, Denise; Cole, Trevor; MacDonald, Fiona; Griffiths, Mike; Allen, Stephanie 分享 收藏
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression Smith, Joel; Read, Martin L.; Hoffman, Jon; Brown, Rachel; Bradshaw, Beth; Campbell, Christopher; Cole, Trevor; Navas, Johanna Dieguez; Eatock, Fiona; Gundara, Justin S.; Lian, Eric; Mcmullan, Dom; Morgan, Neil V.; Mulligan, Lois; Morrison, Patrick J.; Robledo, Mercedes; Simpson, Michael A.; Smith, Vicki E.; Stewart, Sue; Trembath, Richard C.; Sidhu, Stan; Togneri, Fiona S.; Wake, Naomi C.; Wallis, Yvonne; Watkinson, John C.; Maher, Eamonn R.; McCabe, Christopher J.; Woodward, Emma R. 分享 收藏
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
分享.png){kind=icon}
收藏
未登录.png){kind=icon}