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Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1 Sallo, Ferenc B.; Dysli, Chantal; Holzer, Franz Josef; Ranza, Emmanuelle; Guipponi, Michel; Antonarakis, Stylianos E.; Munier, Francis L.; Bird, Alan C.; Schorderet, Daniel F.; Rossillion, Beatrice; Vaclavik, Veronika 分享 收藏
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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs 分享 收藏
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders May, Halie J.; Jeong, Jaehoon; Revah-Politi, Anya; Cohen, Julie S.; Chassevent, Anna; Baptista, Julia; Baugh, Evan H.; Bier, Louise; Bottani, Armand; Carminho A. Rodrigues, Maria Teresa; Conlon, Charles; Fluss, Joel; Guipponi, Michel; Kim, Chong Ae; Matsumoto, Naomichi; Person, Richard; Primiano, Michelle; Rankin, Julia; Shinawi, Marwan; Smith-Hicks, Constance; Telegrafi, Aida; Toy, Samantha; Uchiyama, Yuri; Aggarwal, Vimla; Goldstein, David B.; Roche, Katherine W.; Anyane-Yeboa, Kwame 分享 收藏
A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family Guipponi, Michel; Masclaux, Frederic; Sloan-Bena, Frederique; Di Sanza, Corinne; Ozbek, Namik; Peyvandi, Flora; Menegatti, Marzia; Casini, Alessandro; Malbora, Baris; Neerman-Arbez, Marguerite 分享 收藏
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients Laurent, Sacha; Gehrig, Corinne; Nouspikel, Thierry; Amr, Sami S.; Oza, Andrea; Murphy, Elissa; Vannier, Anne; Bena, Frederique Sloan; Carminho-Rodrigues, Maria Teresa; Blouin, Jean-Louis; Cao Van, Helene; Abramowicz, Marc; Paoloni-Giacobino, Ariane; Guipponi, Michel 分享 收藏
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Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance Stamoulis, Georgios; Garieri, Marco; Makrythanasis, Periklis; Letourneau, Audrey; Guipponi, Michel; Panousis, Nikolaos; Sloan-Bena, Frederique; Falconnet, Emilie; Ribaux, Pascale; Borel, Christelle; Santoni, Federico; Antonarakis, Stylianos E. 分享 收藏
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Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts Ansar, Muhammad; Chung, Hyung-lok; Taylor, Rachel L.; Nazir, Aamir; Imtiaz, Samina; Sarwar, Muhammad T.; Manousopoulou, Alkistis; Makrythanasis, Periklis; Saeed, Sondas; Falconnet, Emilie; Guipponi, Michel; Pournaras, Constantin J.; Ansari, Maqsood A.; Ranza, Emmanuelle; Santoni, Federico A.; Ahmed, Jawad; Shah, Inayat; Gul, Khitab; Black, Graeme C. M.; Bellen, Hugo J.; Antonarakis, Stylianos E. 分享 收藏
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay LINGO1中的双等位基因变体与常染色体隐性智力障碍，小头畸形，言语和运动延迟有关 Ansar, Muhammad; Riazuddin, Saima; Sarwar, Muhammad Tahir; Makrythanasis, Periklis; Paracha, Sohail Aziz; Iqbal, Zafar; Khan, Jamshed; Assir, Muhammad Zaman; Hussain, Mureed; Razzaq, Attia; Polla, Daniel Lopo; Taj, Abid Sohail; Holmgren, Asbjorn; Batool, Naila; Misceo, Doriana; Iwaszkiewicz, Justyna; de Brouwer, Arjan P. M.; Guipponi, Michel; Hanquinet, Sylviane; Zoete, Vincent; Santoni, Federico A.; Frengen, Eirik; Ahmed, Jawad; Riazuddin, Sheikh; van Bokhoven, Hans; Antonarakis, Stylianos E. 分享 收藏
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 Ansar, Muhammad; Chung, Hyunglok; Waryah, Yar M.; Makrythanasis, Periklis; Falconnet, Emilie; Rao, Ali Raza; Guipponi, Michel; Narsani, Ashok K.; Fingerhut, Ralph; Santoni, Federico A.; Ranza, Emmanuelle; Waryah, Ali M.; Bellen, Hugo J.; Antonarakis, Stylianos E. 分享 收藏
Biallelic variants in KIF14 cause intellectual disability with microcephaly Makrythanasis, Periklis; Maroofian, Reza; Stray-Pedersen, Asbjorg; Musaev, Damir; Zaki, Maha S.; Mahmoud, Iman G.; Selim, Laila; Elbadawy, Amera; Jhangiani, Shalini N.; Akdemir, Zeynep H. Coban; Gambin, Tomasz; Sorte, Hanne S.; Heiberg, Arvid; McEvoy-Venneri, Jennifer; James, Kiely N.; Stanley, Valentina; Belandres, Denice; Guipponi, Michel; Santoni, Federico A.; Ahangari, Najmeh; Tara, Fatemeh; Doosti, Mohammad; Iwaszkiewicz, Justyna; Zoete, Vincent; Backe, Paul Hoff; Hamamy, Hanan; Gleeson, Joseph G.; Lupski, James R.; Karimiani, Ehsan Ghayoor; Antonarakis, Stylianos E. 分享 收藏
Meta-analysis of CYP2C19 association with efficacy and side effects of citalopram and escitalopram Fabbri, C.; Tansey, K.; Perlis, R.; Hauser, J.; Henigsberg, N.; Maier, W.; Mors, O.; Placentino, A.; Rietschel, M.; Souery, D.; Breen, G.; Curtis, C.; Sang-Hyuk, L.; Newhouse, S.; Patel, H.; Guipponi, M.; Perroud, N.; Bondolfi, G.; O'Donovan, M.; Lewis, G.; Biernacka, J.; Weinshilboum, R.; Farmer, A.; Aitchison, K.; Craig, I.; McGuffin, P.; Uher, R.; Lewis, C. 分享 收藏
No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients Guipponi, M.; Santoni, F.; Schneider, M.; Gehrig, C.; Bustillo, X. B.; Kates, W. R.; Morrow, B.; Armando, M.; Vicari, S.; Sloan-Bena, F.; Gagnebin, M.; Shashi, V.; Hooper, S. R.; Eliez, S.; Antonarakis, S. E. 分享 收藏
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 Olcese, Chiara; Patel, Mitali P.; Shoemark, Amelia; Kiviluoto, Santeri; Legendre, Marie; Williams, Hywel J.; Vaughan, Cara K.; Hayward, Jane; Goldenberg, Alice; Emes, Richard D.; Munye, Mustafa M.; Dyer, Laura; Cahill, Thomas; Bevillard, Jeremy; Gehrig, Corinne; Guipponi, Michel; Chantot, Sandra; Duquesnoy, Philippe; Thomas, Lucie; Jeanson, Ludovic; Copin, Bruno; Tamalet, Aline; Thauvin-Robinet, Christel; Papon, Jean-Francois; Garin, Antoine; Pin, Isabelle; Vera, Gabriella; Aurora, Paul; Fassad, Mahmoud R.; Jenkins, Lucy; Boustred, Christopher; Cullup, Thomas; Dixon, Mellisa; Onoufriadis, Alexandros; Bush, Andrew; Chung, Eddie M. K.; Antonarakis, Stylianos E.; Loebinger, Michael R.; Wilson, Robert; Armengot, Miguel; Escudier, Estelle; Hogg, Claire; Amselem, Serge; Sun, Zhaoxia; Bartoloni, Lucia; Blouin, Jean-Louis; Mitchison, Hannah M. 分享 收藏
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