未登录 Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 Nair, Divya; Li, Dong; Erdogan, Hannah; Yoon, Andrew; Harr, Margaret H.; Bergant, Gaber; Peterlin, Borut; Pusenjak, Marusa Skrjanec; Jayakar, Parul; Pfundt, Rolph; Jansen, Sandra; McWalter, Kirsty; Sidhu, Alpa; Saliganan, Sheila; Agolini, Emanuele; Jacob, Arthur; Pasquier, Jennifer; Arash, Rafii; Kahrizi, Kimia; Najmabadi, Hossein; Ropers, Hans-Hilger; Bhoj, Elizabeth J. 分享 收藏
POLRMT mutations impair mitochondrial transcription causing neurological disease Olahova, Monika; Peter, Bradley; Szilagyi, Zsolt; Diaz-Maldonado, Hector; Singh, Meenakshi; Sommerville, Ewen W.; Blakely, Emma L.; Collier, Jack J.; Hoberg, Emily; Stranecky, Viktor; Hartmannova, Hana; Bleyer, Anthony J.; McBride, Kim L.; Bowden, Sasigarn A.; Korandova, Zuzana; Pecinova, Alena; Ropers, Hans-Hilger; Kahrizi, Kimia; Najmabadi, Hossein; Tarnopolsky, Mark A.; Brady, Lauren I.; Weaver, K. Nicole; Prada, Carlos E.; Ounap, Katrin; Wojcik, Monica H.; Pajusalu, Sander; Syeda, Safoora B.; Pais, Lynn; Estrella, Elicia A.; Bruels, Christine C.; Kunkel, Louis M.; Kang, Peter B.; Bonnen, Penelope E.; Mracek, Tomas; Kmoch, Stanislav; Gorman, Grainne S.; Falkenberg, Maria; Gustafsson, Claes M.; Taylor, Robert W. 分享 收藏
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders Mitani, Tadahiro; Punetha, Jaya; Akalin, Ibrahim; Pehlivan, Davut; Dawidziuk, Mateusz; Akdemir, Zeynep Coban; Yilmaz, Sarenur; Aslan, Ezgi; Hunter, Jill V.; Hijazi, Hadia; Grochowski, Christopher M.; Jhangiani, Shalini N.; Karaca, Ender; Fatih, Jawid M.; Iwanowski, Piotr; Gambin, Tomasz; Wlasienko, Pawel; Goszczanska-Ciuchta, Alicja; Bekiesinska-Figatowska, Monika; Hosseini, Masoumeh; Arzhangi, Sanaz; Najmabadi, Hossein; Rosenfeld, Jill A.; Du, Haowei; Marafi, Dana; Blaser, Susan; Teitelbaum, Ronni; Silver, Rachel; Posey, Jennifer E.; Ropers, Hans-Hilger; Gibbs, Richard A.; Wiszniewski, Wojciech; Lupski, James R.; Chitayat, David; Kahrizi, Kimia; Gawlinski, Pawel 分享 收藏
Genetics of intellectual disability in consanguineous families Hu, Hao; Kahrizi, Kimia; Musante, Luciana; Fattahi, Zohreh; Herwig, Ralf; Hosseini, Masoumeh; Oppitz, Cornelia; Abedini, Seyedeh Sedigheh; Suckow, Vanessa; Larti, Farzaneh; Beheshtian, Maryam; Lipkowitz, Bettina; Akhtarkhavari, Tara; Mehvari, Sepideh; Otto, Sabine; Mohseni, Marzieh; Arzhangi, Sanaz; Jamali, Payman; Mojahedi, Faezeh; Taghdiri, Maryam; Papari, Elaheh; Banavandi, Mohammad Javad Soltani; Akbari, Saeide; Tonekaboni, Seyed Hassan; Dehghani, Hossein; Ebrahimpour, Mohammad Reza; Bader, Ingrid; Davarnia, Behzad; Cohen, Monika; Khodaei, Hossein; Albrecht, Beate; Azimi, Sarah; Zirn, Birgit; Bastami, Milad; Wieczorek, Dagmar; Bahrami, Gholamreza; Keleman, Krystyna; Vahid, Leila Nouri; Tzschach, Andreas; Gaertner, Jutta; Gillessen-Kaesbach, Gabriele; Varaghchi, Jamileh Rezazadeh; Timmermann, Bernd; Pourfatemi, Fatemeh; Jankhah, Aria; Chen, Wei; Nikuei, Pooneh; Kalscheuer, Vera M.; Oladnabi, Morteza; Wienker, Thomas F.; Ropers, Hans-Hilger; Najmabadi, Hossein 分享 收藏
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BOD1 Is Required for Cognitive Function in Humans and Drosophila Esmaeeli-Nieh, Sahar; Fenckova, Michaela; Porter, Iain M.; Motazacker, M. Mahdi; Nijhof, Bonnie; Castells-Nobau, Anna; Asztalos, Zoltan; Weissmann, Robert; Behjati, Farkhondeh; Tzschach, Andreas; Felbor, Ute; Scherthan, Harry; Sayfati, Seyed Morteza; Ropers, H. Hilger.; Kahrizi, Kimia; Najmabadi, Hossein; Swedlow, Jason R.; Schenck, Annette; Kuss, Andreas W. 分享 收藏
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration Iqbal, Zafar; Puettmann, Lucia; Musante, Luciana; Razzaq, Attia; Zahoor, Muhammad Yasir; Hu, Hao; Wienker, Thomas F.; Garshasbi, Masoud; Fattahi, Zohreh; Gilissen, Christian; Vissers, Lisenka E. L. M.; de Brouwer, Arjan P. M.; Veltman, Joris A.; Pfundt, Rolph; Najmabadi, Hossein; Ropers, Hans-Hilger; Riazuddin, Sheikh; Kahrizi, Kimia; van Bokhoven, Hans 分享 收藏
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Redefining the MED13L syndrome 重新定义MED13L综合征 Adegbola, Abidemi; Musante, Luciana; Callewaert, Bert; Maciel, Patricia; Hu, Hao; Isidor, Bertrand; Picker-Minh, Sylvie; Le Caignec, Cedric; Delle Chiaie, Barbara; Vanakker, Olivier; Menten, Bjorn; Dheedene, Annelies; Bockaert, Nele; Roelens, Filip; Decaestecker, Karin; Silva, Joao; Soares, Gabriela; Lopes, Fatima; Najmabadi, Hossein; Kahrizi, Kimia; Cox, Gerald F.; Angus, Steven P.; Staropoli, John F.; Fischer, Ute; Suckow, Vanessa; Bartsch, Oliver; Chess, Andrew; Ropers, Hans-Hilger; Wienker, Thomas F.; Hubner, Christoph; Kaindl, Angela M.; Kalscheuer, Vera M. 分享 收藏
Mendelian and polygenic inheritance of intelligence: A common set of causal genes? Using next-generation sequencing to examine the effects of 168 intellectual disability genes on normal-range intelligence Franic, Sanja; Dolan, Conor V.; Broxholme, John; Hu, Hao; Zemojtel, Tomasz; Davies, Garreth E.; Nelson, Kelly A.; Ehli, Erik A.; Pool, Rene; Hottenga, Jouke-Jan; Ropers, H. -Hilger; Boomsma, Dorret I. 分享 收藏
Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait Franic, Sanja; Groen-Blokhuis, Maria M.; Dolan, Conor V.; Kattenberg, Mathijs V.; Pool, Rene; Xiao, Xiangjun; Scheet, Paul A.; Ehli, Erik A.; Davies, Gareth E.; van der Sluis, Sophie; Abdellaoui, Abdel; Hansell, Narelle K.; Martin, Nicholas G.; Hudziak, James J.; van Beijsterveldt, Catherina E. M.; Swagerman, Suzanne C.; Pol, Hilleke E. Hulshoff; de Geus, Eco J. C.; Bartels, Meike; Ropers, H. Hilger; Hottenga, Jouke-Jan; Boomsma, Dorret I. 分享 收藏
A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability (vol 23, pg 331, 2015) Larti, Farzaneh; Kahrizi, Kimia; Musante, Luciana; Hu, Hao; Papari, Elahe; Fattahi, Zohreh; Bazazzadegan, Niloofar; Liu, Zhe; Banan, Mehdi; Garshasbi, Masoud; Wienker, Thomas F.; Ropers, H. Hilger; Galjart, Niels; Najmabadi, Hossein 分享 收藏
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness Hu, Hao; Matter, Michelle L.; Issa-Jahns, Lina; Jijiwa, Mayumi; Kraemer, Nadine; Musante, Luciana; de la Vega, Michelle; Ninnemann, Olaf; Schindler, Detlev; Damatova, Natalia; Eirich, Katharina; Sifringer, Marco; Schroetter, Sandra; Eickholt, Britta J.; van den Heuvel, Lambert; Casamina, Chanel; Stoltenburg-Didinger, Gisela; Ropers, Hans-Hilger; Wienker, Thomas F.; Huebner, Christoph; Kaindl, Angela M. 分享 收藏
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Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia Minocherhomji, Sheroy; Hansen, Claus; Kim, Hyung-Goo; Mang, Yuan; Bak, Mads; Guldberg, Per; Papadopoulos, Nickolas; Eiberg, Hans; Doh, Gerald Dayebga; Mollgard, Kjeld; Hertz, Jens Michael; Nielsen, Jorgen E.; Ropers, Hans-Hilger; Tumer, Zeynep; Tommerup, Niels; Kalscheuer, Vera M.; Silahtaroglu, Asli 分享 收藏
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum Thorwarth, Anne; Schnittert-Huebener, Sarah; Schrumpf, Pamela; Mueller, Ines; Jyrch, Sabine; Dame, Christof; Biebermann, Heike; Kleinau, Gunnar; Katchanov, Juri; Schuelke, Markus; Ebert, Grit; Steininger, Anne; Boennemann, Carsten; Brockmann, Knut; Christen, Hans-Juergen; Crock, Patricia; deZegher, Francis; Griese, Matthias; Hewitt, Jacqueline; Ivarsson, Sten; Huebner, Christoph; Kapelari, Klaus; Plecko, Barbara; Rating, Dietz; Stoeva, Iva; Ropers, Hans-Hilger; Grueters, Annette; Ullmann, Reinhard; Krude, Heiko 分享 收藏
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A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability Larti, Farzaneh; Kahrizi, Kimia; Musante, Luciana; Hu, Hao; Papari, Elahe; Fattahi, Zohreh; Bazazzadegan, Niloofar; Liu, Zhe; Banan, Mehdi; Garshasbi, Masoud; Wienker, Thomas F.; Ropers, H. Hilger; Galjart, Niels; Najmabadi, Hossein 分享 收藏
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ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity Hirata, Hiromi; Nanda, Indrajit; van Riesen, Anne; McMichael, Gai; Hu, Hao; Hambrock, Melanie; Papon, Marie-Amelie; Fischer, Ute; Marouillat, Sylviane; Ding, Can; Alirol, Servane; Bienek, Melanie; Preisler-Adams, Sabine; Grimme, Astrid; Seelow, Dominik; Webster, Richard; Haan, Eric; MacLennan, Alastair; Stenzel, Werner; Yap, Tzu Ying; Gardner, Alison; Lam Son Nguyen; Shaw, Marie; Lebrun, Nicolas; Haas, Stefan A.; Kress, Wolfram; Haaf, Thomas; Schellenberger, Elke; Chelly, Jamel; Viot, Geraldine; Shaffer, Lisa G.; Rosenfeld, Jill A.; Kramer, Nancy; Falk, Rena; El-Khechen, Dima; Escobar, Luis F.; Hennekam, Raoul; Wieacker, Peter; Huebner, Christoph; Ropers, Hans-Hilger; Gecz, Jozef; Schuelke, Markus; Laumonnier, Frederic; Kalscheuer, Vera M. 分享 收藏
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