未登录 分享 收藏
分享 收藏
分享 收藏
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission Fasham, James; Huebner, Antje K.; Liebmann, Lutz; Khalaf-Nazzal, Reham; Maroofian, Reza; Kryeziu, Nderim; Wortmann, Saskia B.; Leslie, Joseph S.; Ubeyratna, Nishanka; Mancini, Grazia M. S.; van Slegtenhorst, Marjon; Wilke, Martina; Haack, Tobias B.; Shamseldin, Hanan E.; Gleeson, Joseph G.; Almuhaizea, Mohamed; Dweikat, Imad; Abu-Libdeh, Bassam; Daana, Muhannad; Zaki, Maha S.; Wakeling, Matthew N.; McGavin, Lucy; Turnpenny, Peter D.; Alkuraya, Fowzan S.; Houlden, Henry; Schlattmann, Peter; Kaila, Kai; Crosby, Andrew H.; Baple, Emma L.; Huebner, Christian A. 分享 收藏
Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome Ramond, Francis; Dalgliesh, Caroline; Grimmel, Mona; Wechsberg, Oded; Vetro, Annalisa; Guerrini, Renzo; FitzPatrick, David; Poole, Rebecca L.; Lebrun, Marine; Bayat, Allan; Grasshoff, Ute; Bertrand, Miriam; Witt, Dennis; Turnpenny, Peter D.; Faundes, Victor; Santa Maria, Lorena; Fuentes, Carolina Mendoza; Mabe, Paulina; Hussain, Shaun A.; Mullegama, Sureni V.; Torti, Erin; Oehl-Jaschkowitz, Barbara; Salmon, Lina Basel; Orenstein, Naama; Shahar, Noa Ruhrman; Hagari, Ofir; Bazak, Lily; Hoffjan, Sabine; Prada, Carlos E.; Haack, Tobias; Elliott, David J. 分享 收藏
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder Khalaf-Nazzal, Reham; Fasham, James; Inskeep, Katherine A.; Blizzard, Lauren E.; Leslie, Joseph S.; Wakeling, Matthew N.; Ubeyratna, Nishanka; Mitani, Tadahiro; Griffith, Jennifer L.; Baker, Wisam; Al-Hijawi, Fida'; Keough, Karen C.; Gezdirici, Alper; Pena, Loren; Spaeth, Christine G.; Turnpenny, Peter D.; Walsh, Joseph R.; Ray, Randall; Neilson, Amber; Kouranova, Evguenia; Cui, Xiaoxia; Curiel, David T.; Pehlivan, Davut; Akdemir, Zeynep Coban; Posey, Jennifer E.; Lupski, James R.; Dobyns, William B.; Stottmann, Rolf W.; Crosby, Andrew H.; Baple, Emma L. 分享 收藏
The Phenotypic Continuum of ATP1A3-Related Disorders Vezyroglou, Aikaterini; Akilapa, Rhoda; Barwick, Katy; Koene, Saskia; Brownstein, Catherine A.; Holder-Espinasse, Muriel; Fry, Andrew E.; Nemeth, Andrea H.; Tofaris, George K.; Hay, Eleanor; Hughes, Imelda; Mansour, Sahar; Mordekar, Santosh R.; Splitt, Miranda; Turnpenny, Peter D.; Demetriou, Demetria; Koopmann, Tamara T.; Ruivenkamp, Claudia A. L.; Agrawal, Pankaj B.; Carr, Lucinda; Clowes, Virginia; Ghali, Neeti; Holder, Susan Elizabeth; Radley, Jessica; Male, Alison; Sisodiya, Sanjay M.; Kurian, Manju A.; Cross, J. Helen; Balasubramanian, Meena 分享 收藏
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study Forde, Claire; Burkitt-Wright, Emma; Turnpenny, Peter D.; Haan, Eric; Ealing, John; Mansour, Sahar; Holder, Muriel; Lahiri, Nayana; Dixit, Abhijit; Procter, Annie; Pacot, Laurence; Vidaud, Dominique; Capri, Yline; Gerard, Marion; Dollfus, Helene; Schaefer, Elise; Quelin, Chloe; Sigaudy, Sabine; Busa, Tiffany; Vera, Gabriella; Damaj, Lena; Messiaen, Ludwine; Stevenson, David A.; Davies, Peter; Palmer-Smith, Sheila; Callaway, Alison; Wolkenstein, Pierre; Pasmant, Eric; Upadhyaya, Meena 分享 收藏
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome Weerts, Marjolein J. A.; Lanko, Kristina; Guzman-Vega, Francisco J.; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londono, Kelly J.; Pena-Guerra, Karla A.; van Bever, Yolande; van Paassen, Barbara W.; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M.; Kehoe, Caroline M.; Robinson, Hannah K.; Pang, Lewis; Banu, Selina H.; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Jarvela, Irma; Lauronen, Leena; Maatta, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M.; Ruivenkamp, Claudia A. L.; Barge-Schaapveld, Daniela Q. C. M.; Peeters-Scholte, Cacha M. P. C. D.; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M.; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K.; Lupski, James R.; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J. Lawrence, II; Mirzaa, Ghayda M.; Timms, Andrew E.; Scheck, Joshua; Elting, Mariet W.; Polstra, Abeltje M.; Schenck, Lauren; Ruzhnikov, Maura R. Z.; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C.; Mosher, Theresa Mihalic; Pastore, Matthew T.; McBride, Kim L.; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D.; de Vries, Bert B. A.; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R.; Klemp, Kara C.; Vansenne, Fleur; van Gijn, Marielle E.; Quindipan, Catherine; Deardorff, Matthew A.; Hamm, J. Austin; Putnam, Abbey M.; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A.; Baptista, Julia; Person, Richard E.; Monaghan, Kristin G.; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T.; Barakat, Tahsin Stefan 分享 收藏
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss SPATA5L1中的双等位基因变体导致智力障碍，痉挛性肌张力障碍性脑瘫，癫痫和听力损失 Richard, Elodie M.; Bakhtiari, Somayeh; Marsh, Ashley P. L.; Kaiyrzhanov, Rauan; Wagner, Matias; Shetty, Sheetal; Pagnozzi, Alex; Nordlie, Sandra M.; Guida, Brandon S.; Cornejo, Patricia; Magee, Helen; Liu, James; Norton, Bethany Y.; Webster, Richard, I; Worgan, Lisa; Hakonarson, Hakon; Li, Jiankang; Guo, Yiran; Jain, Mahim; Blesson, Alyssa; Rodan, Lance H.; Abbott, Mary-Alice; Comi, Anne; Cohen, Julie S.; Alhaddad, Bader; Meitinger, Thomas; Lenz, Dominic; Ziegler, Andreas; Kotzaeridou, Urania; Brunet, Theresa; Chassevent, Anna; Smith-Hicks, Constance; Ekstein, Joseph; Weiden, Tzvi; Hahn, Andreas; Zharkinbekova, Nazira; Turnpenny, Peter; Tucci, Arianna; Yelton, Melissa; Horvath, Rita; Gungor, Serdal; Hiz, Semra; Oktay, Yavuz; Lochmuller, Hanns; Zollino, Marcella; ManuelaMorleo; Marangi, Giuseppe; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Amenta, Simona; Husain, Ralf A.; Grossmann, Benita; Rapp, Marion; Steen, Claudia; Marquardt, Iris; Grimmel, Mona; Grasshoff, Ute; Korenke, G. Christoph; Owczarek-Lipska, Marta; Neidhardt, John; Radio, Francesca Clementinac; Mancini, Cecilia; Sepulveda, Dianela Judith Claps; Mc Walter, Kirsty; Begtrup, Amber; Crunk, Amy; Sacoto, Maria J. Guillen; Person, Richard; Schnur, Rhonda E.; Mancardi, Maria Margherita; Kreuder, Florian; Striano, Pasquale; Zara, Federico; Chung, Wendy K.; Marks, Warren A.; van Eyk, Clare L.; Webber, Dani L.; Corbett, Mark A.; Harper, Kelly; Berry, Jesia G.; Mac Lennan, Alastair H.; Gecz, Jozef; Tartaglia, Marco; Salpietro, Vincenzo; Christodoulou, John; Kaslin, Jan; Padilla-Lopez, Sergio; Bilguvar, Kaya; Munchau, Alexander; Ahmed, Zubair M.; Hufnagel, Robert B.; Fahey, Michael C.; Maroofian, Reza; Houlden, Henry; Sticht, Heinrich; Mane, Shrikant M.; LRad, Aboulfaz; Vona, Barbara; Jin, Sheng Chih; Haack, Tobias B.; Makowski, Christine; Hirsch, Yoel; Riazuddin, Saima; Kruer, Michael C. 分享 收藏
PTPN4 germline variants result in aberrant neurodevelopment and growth Chmielewska, Joanna J.; Burkardt, Deepika; Granadillo, Jorge Luis; Slaugh, Rachel; Morgan, Shamile; Rotenberg, Joshua; Keren, Boris; Mignot, Cyril; Escobar, Luis; Turnpenny, Peter; Zuteck, Melissa; Seaver, Laurie H.; Ploski, Rafal; Dziembowska, Magdalena; Wynshaw-Boris, Anthony; Adegbola, Abidemi 分享 收藏
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior RFX家族转录因子的破坏会导致自闭症，注意力缺陷/多动障碍，智力障碍和行为失调 Harris, Holly K.; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S.; Soucy, Aubrie; Genetti, Casie A.; Suslovitch, Victoria; Rodan, Lance H.; Tiller, George E.; Lesca, Gaetan; Gripp, Karen W.; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D.; Turnpenny, Peter D.; Simon, Marleen E. H.; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; van Binsbergen, Ellen; Pfundt, Rolph; Gardeitchik, Thatjana; de Vries, Bert B. A.; Immken, LaDonna L.; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L.; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Julian L., Jr.; Fannemel, Madeleine; Posey, Jennifer E.; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R.; Larsen, Martin J.; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K.; Walsh, Laurence E.; Aldinger, Kimberly A.; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P.; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Kury, Sebastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, Andre; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Guiseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B.; Cohen, Lilian L.; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B.; Beggs, Alan H.; Yu, Timothy W. 分享 收藏
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency Lin, Siying; Fasham, James; Al-Hijawi, Fida'; Qutob, Nouar; Gunning, Adam; Leslie, Joseph S.; McGavin, Lucy; Ubeyratna, Nishanka; Baker, Wisam; Zeid, Ramez; Turnpenny, Peter D.; Crosby, Andrew H.; Baple, Emma L.; Khalaf-Nazzal, Reham 分享 收藏
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females SPEN单倍功能不全导致神经发育障碍重叠近端1p36缺失综合征，并伴有女性X染色体的表观特征 Radio, Francesca Clementina; Pang, Kaifang; Ciolfi, Andrea; Levy, Michael A.; Hernandez-Garcia, Andres; Pedace, Lucia; Pantaleoni, Francesca; Liu, Zhandong; de Boer, Elke; Jackson, Adam; Bruselles, Alessandro; McConkey, Haley; Stellacci, Emilia; Lo Cicero, Stefania; Motta, Marialetizia; Carrozzo, Rosalba; Dentici, Maria Lisa; McWalter, Kirsty; Desai, Megha; Monaghan, Kristin G.; Telegrafi, Aida; Philippe, Christophe; Vitobello, Antonio; Au, Margaret; Grand, Katheryn; Sanchez-Lara, Pedro A.; Baez, Joanne; Lindstrom, Kristin; Kulch, Peggy; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Roadhouse, Chelsea; MacKenzie, Jennifer J.; Monteleone, Berrin; Saunders, Carol J.; Cuevas, July K. Jean; Cross, Laura; Zhou, Dihong; Hartley, Taila; Sawyer, Sarah L.; Monteiro, Fabiola Paoli; Secches, Tania Vertemati; Kok, Fernando; Schultz-Rogers, Laura E.; Macke, Erica L.; Morava, Eva; Klee, Eric W.; Kemppainen, Jennifer; Iascone, Maria; Selicorni, Angelo; Tenconi, Romano; Amor, David J.; Pais, Lynn; Gallacher, Lyndon; Turnpenny, Peter D.; Stals, Karen; Ellard, Sian; Cabet, Sara; Lesca, Gaetan; Pascal, Joset; Steindl, Katharina; Ravid, Sarit; Weiss, Karin; Castle, Alison M. R.; Carter, Melissa T.; Kalsner, Louisa; de Vries, Bert B. A.; van Bon, Bregje W.; Wevers, Marijke R.; Pfundt, Rolph; Stegmann, Alexander P. A.; Kerr, Bronwyn; Kingston, Helen M.; Chandler, Kate E.; Sheehan, Willow; Elias, Abdallah F.; Shinde, Deepali N.; Towne, Meghan C.; Robin, Nathaniel H.; Goodloe, Dana; Vanderver, Adeline; Sherbini, Omar; Bluske, Krista; Hagelstrom, R. Tanner; Zanus, Caterina; Faletra, Flavio; Musante, Luciana; Kurtz-Nelson, Evangeline C.; Earl, Rachel K.; Anderlid, Britt-Marie; Morin, Gilles; van Slegtenhorst, Marjon; Diderich, Karin E. M.; Brooks, Alice S.; Gribnau, Joost; Boers, Ruben G.; Finestra, Teresa Robert; Carter, Lauren B.; Rauch, Anita; Gasparini, Paolo; Boycott, Kym M.; Barakat, Tahsin Stefan; Graham, John M., Jr.; Faivre, Laurence; Banka, Siddharth; Wang, Tianyun; Eichler, Evan E.; Priolo, Manuela; Dallapiccola, Bruno; Vissers, Lisenka E. L. M.; Sadikovic, Bekim; Scott, Daryl A.; Holder, Jimmy Lloyd, Jr.; Tartaglia, Marco 分享 收藏
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders Barbosa, Sonia; Greville-Heygate, Stephanie; Bonnet, Maxime; Godwin, Annie; Fagotto-Kaufmann, Christine; Kajava, Andrey, V; Laouteouet, Damien; Mawby, Rebecca; Wai, Htoo Aung; Dingemans, Alexander J. M.; Hehir-Kwa, Jayne; Willems, Marjorlaine; Capri, Yline; Mehta, Sarju G.; Cox, Helen; Goudie, David; Vansenne, Fleur; Turnpenny, Peter; Vincent, Marie; Cogne, Benjamin; Lesca, Gaetan; Hertecant, Jozef; Rodriguez, Diana; Keren, Boris; Burglen, Lydie; Gerard, Marion; Putoux, Audrey; Cantagrel, Vincent; Siquier-Pernet, Karine; Rio, Marlene; Banka, Siddharth; Sarkar, Ajoy; Steeves, Marcie; Parker, Michael; Clement, Emma; Moutton, Sebastien; Mau-Them, Frederic Tran; Piton, Amelie; de Vries, Bert B. A.; Guille, Matthew; Debant, Anne; Schmidt, Susanne; Baralle, Diana 分享 收藏
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis (vol 17, pg 189, 2019) Weiss, Karin; Lazar, Hayley P.; Kurolap, Alina; Martinez, Ariel F.; Paperna, Tamar; Cohen, Lior; Smeland, Marie F.; Whalen, Sandra; Heide, Solveig; Keren, Boris; Terhal, Pauline; Irving, Melita; Takaku, Motoki; Roberts, John D.; Petrovich, Robert M.; Vergano, Samantha A. Schrier; Kenney, Amy; Hove, Hanne; DeChene, Elizabeth; Quinonez, Shane C.; Colin, Estelle; Ziegler, Alban; Rumple, Melissa; Jain, Mahim; Monteil, Danielle; Roeder, Elizabeth R.; Nugent, Kimberly; van Haeringen, Arie; Gambello, Michael; Santani, Avni; Medne, Livija; Krock, Bryan; Skraban, Cara M.; Zackai, Elaine H.; Dubbs, Holly A.; Smol, Thomas; Ghoumid, Jamal; Parker, Michael J.; Wright, Michael; Turnpenny, Peter; Clayton-Smith, Jill; Metcalfe, Kay; Kurumizaka, Hitoshi; Gelb, Bruce D.; Feldman, Hagit Baris; Campeau, Philippe M.; Muenke, Maximilian; Wade, Paul A.; Lachlan, Katherine 分享 收藏
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis Weiss, Karin; Lazar, Hayley P.; Kurolap, Alina; Martinez, Ariel F.; Paperna, Tamar; Cohen, Lior; Smeland, Marie F.; Whalen, Sandra; Heide, Solveig; Keren, Boris; Terhal, Pauline; Irving, Melita; Takaku, Motoki; Roberts, John D.; Petrovich, Robert M.; Vergano, Samantha A. Schrier; Kenney, Amy; Hove, Hanne; DeChene, Elizabeth; Quinonez, Shane C.; Colin, Estelle; Ziegler, Alban; Rumple, Melissa; Jain, Mahim; Monteil, Danielle; Roeder, Elizabeth R.; Nugent, Kimberly; Van Haeringen, Arie; Gambello, Michael; Santani, Avni; Medne, Livija; Krock, Bryan; Skraban, Cara M.; Zackai, Elaine H.; Dubbs, Holly A.; Smol, Thomas; Ghoumid, Jamal; Parker, Michael J.; Wright, Michael; Turnpenny, Peter; Clayton-Smith, Jill; Metcalfe, Kay; Kurumizaka, Hitoshi; Gelb, Bruce D.; Feldman, Hagit Baris; Campeau, Philippe M.; Muenke, Maximilian; Wade, Paul A.; Lachlan, Katherine 分享 收藏
Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability Clayton-Smith, Jill; Bromley, Rebecca; Dean, John; Journel, Hubert; Odent, Sylvie; Wood, Amanda; Williams, Janet; Cuthbert, Verna; Hackett, Latha; Aslam, Neelo; Malm, Heli; James, Gregory; Westbom, Lena; Day, Ruth; Ladusans, Edmund; Jackson, Adam; Bruce, Iain; Walker, Robert; Sidhu, Sangeet; Dyer, Catrina; Ashworth, Jane; Hindley, Daniel; Diaz, Gemma Arca; Rawson, Myfanwy; Turnpenny, Peter 分享 收藏
27 years of prenatal diagnosis for Huntington disease in the United Kingdom Pina-Aguilar, Raul E.; Simpson, Sheila A.; Alshatti, Abdulrahman; Clarke, Angus; Craufurd, David; Dorkins, Huw; Doye, Karen; Lahiri, Nayana; Lashwood, Alison; Lynch, Colleen; Miller, Claire; Morton, Sally; O'Driscoll, Mary; Quarrell, Oliver W.; Rae, Daniela; Strong, Mark; Tomlinson, Charlotte; Turnpenny, Peter; Miedzybrodzka, Zosia 分享 收藏
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features (vol 103, pg 786, 2018) Turnpenny, Peter D.; Wright, Michael J.; Sloman, Melissa; Caswell, Richard; van Essen, Anthony J.; Gerkes, Erica; Pfundt, Rolph; White, Susan M.; Shaul-Lotan, Nava; Carpenter, Lori; Schaefer, G. Bradley; Fryer, Alan; Innes, A. Micheil; Forbes, Kirsten P.; Chung, Wendy K.; McLaughlin, Heather; Henderson, Lindsay B.; Roberts, Amy E.; Heath, Karen E.; Paumard-Hernandez, Beatriz; Gener, Blanca; Fawcett, Katherine A.; Gjergja-Juraski, Romana; Pilz, Daniela T.; Fry, Andrew E. 分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}