未登录 De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome De Novo and Inherited Variants in DDX39B Cause a Novel Neurodevelopmental Syndrome Booth, Kevin T. A.; Jangam, Sharayu, V; Chui, Martin M. C.; Treat, Kayla; Graziani, Lorenzo; Soldano, Alessia; Ruan, Yao; Hui, Jeffrey Wan-Hei; White, Kerry; Christensen, Celanie K.; Lynnes, Ty; Yamamoto, Shinya; Kanca, Oguz; Tsang, Mandy H. Y.; Lynch, Sally A.; Mullegama, Sureni, V; Baptista, Julia; Iancu, Daniela; Joss, Shelagh K.; Wong, Sandra Y. Y.; Mak, Christopher C. Y.; Kwong, Anna K. Y.; Bellen, Hugo J.; Conboy, Erin; Sanges, Remo; Leung, Anskar Yu-Hung; Wangler, Michael F.; Chung, Brian H. Y.; Vetrini, Francesco 分享 收藏
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays Ganapathi, Mythily; Matsuoka, Leticia S.; March, Michael; Li, Dong; Brokamp, Elly; Benito-Sanz, Sara; White, Susan M.; Lachlan, Katherine; Ahimaz, Priyanka; Sewda, Anshuman; Bastarache, Lisa; Thomas-Wilson, Amanda; Stole, Joan M.; Bramswig, Nuria C.; Baptista, Julia; Stals, Karen; Demurger, Florence; Cogne, Benjamin; Isidor, Bertrand; Bedeschi, Maria Francesca; Peron, Angela; Amiel, Jeanne; Zackai, Elaine; Schacht, John P.; Iglesias, Alejandro D.; Morton, Jenny; Schmetz, Ariane; Seidel, Veronica; Lucia, Stephanie; Baskin, Stephanie M.; Thiffault, Isabelle; Cogan, Joy D.; Gordon, Christopher T.; Chung, Wendy K.; Bowdin, Sarah; Bhoj, Elizabeth 分享 收藏
Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency 与早发性卵巢功能不全相关的致病性遗传变异的外显率 Shekari, Saleh; Stankovic, Stasa; Gardner, Eugene J.; Hawkes, Gareth; Kentistou, Katherine A.; Beaumont, Robin N.; Morseburg, Alexander; Wood, Andrew R.; Prague, Julia K.; Mishra, Gita D.; Day, Felix R.; Baptista, Julia; Wright, Caroline F.; Weedon, Michael N.; Hoffmann, Eva R.; Ruth, Katherine S.; Ong, Ken K.; Perry, John R. B.; Murray, Anna 分享 收藏
Antifungal activity and genomic characterization of the biocontrol agent Bacillus velezensis CMRP 4489 Baptista, Julia Pezarini; Teixeira, Gustavo Manoel; Abreu de Jesus, Maria Luiza; Berte, Rosiana; Higashi, Allan; Mosela, Mirela; da Silva, Daniel Vieira; de Oliveira, Joao Paulo; Sanches, Danilo Sipoli; Brancher, Jacques Duilio; Balbi-Pena, Maria Isabel; Pereira, Ulisses de Padua; de Oliveira, Admilton Goncalves 分享 收藏
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Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria Ververi, Athina; Zagaglia, Sara; Menzies, Lara; Baptista, Julia; Caswell, Richard; Baulac, Stephanie; Ellard, Sian; Lynch, Sally; Jacques, Thomas S.; Chawla, Maninder Singh; Heier, Martin; Kulseth, Mari Ann; Mero, Inger-Lise; Vatevik, Anne Katrine; Kraoua, Ichraf; Ben Rhouma, Hanene; Ben Younes, Thouraya; Miladi, Zouhour; Turki, Ilhem Ben Youssef; Jones, Wendy D.; Clement, Emma; Eltze, Christin; Mankad, Kshitij; Merve, Ashirwad; Parker, Jennifer; Hoskins, Bethan; Pressler, Ronit; Sudhakar, Sniya; DeVile, Catherine; Homfray, Tessa; Kaliakatsos, Marios; Ponnudas, Prabhakar (Prab); Robinson, Robert; Keim, Sara Margrete Boen; Habibi, Imen; Reymond, Alexandre; Sisodiya, Sanjay M.; Hurst, Jane A. 分享 收藏
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement Kaiyrzhanov, Rauan; Mohammed, Sami E. M.; Maroofian, Reza; Husain, Ralf A.; Catania, Alessia; Torraco, Alessandra; Alahmad, Ahmad; Dutra-Clarke, Marina; Gronborg, Sabine; Sudarsanam, Annapurna; Vogt, Julie; Arrigoni, Filippo; Baptista, Julia; Haider, Shahzad; Feichtinger, Rene G.; Bernardi, Paolo; Zulian, Alessandra; Gusic, Mirjana; Efthymiou, Stephanie; Bai, Renkui; Bibi, Farah; Horga, Alejandro; Martinez-Agosto, Julian A.; Lam, Amanda; Manole, Andreea; Rodriguez, Diego-Perez; Durigon, Romina; Pyle, Angela; Albash, Buthaina; Dionisi-Vici, Carlo; Murphy, David; Martinelli, Diego; Bugiardini, Enrico; Allis, Katrina; Lamperti, Costanza; Reipert, Siegfried; Risom, Lotte; Laugwitz, Lucia; Di Nottia, Michela; McFarland, Robert; Vilarinho, Laura; Hanna, Michael; Prokisch, Holger; Mayr, Johannes A.; Bertini, Enrico Silvio; Ghezzi, Daniele; Ostergaard, Elsebet; Wortmann, Saskia B.; Carrozzo, Rosalba; Haack, Tobias B.; Taylor, Robert W.; Spinazzola, Antonella; Nowikovsky, Karin; Houlden, Henry 分享 收藏
Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2-extending the phenotype SMA-LED2-extending表型儿童的白内障，视网膜电图异常和视觉诱发电位 Oliwa, Agata; Joseph, Shuko; Millar, Eoghan; Horrocks, Iain; Penman, Dawn; Baptista, Julia; Cullup, Thomas; Constantinou, Panayiotis; Heuchan, Anne-Marie; Hamilton, Ruth; Longman, Cheryl 分享 收藏
Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms Nolden, Kelsey A.; Egner, John M.; Collier, Jack J.; Russell, Oliver M.; Alston, Charlotte L.; Harwig, Megan C.; Widlansky, Michael E.; Sasorith, Souphatta; Barbosa, Ines A.; Douglas, Andrew Gl; Baptista, Julia; Walker, Mark; Donnelly, Deirdre E.; Morris, Andrew A.; Tan, Hui Jeen; Kurian, Manju A.; Gorman, Kathleen; Mordekar, Santosh; Deshpande, Charu; Samanta, Rajib; McFarland, Robert; Hill, R. Blake; Taylor, Robert W.; Olahova, Monika 分享 收藏
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans Bouasker, Samir; Patel, Nisha; Greenlees, Rebecca; Wellesley, Diana; Taie, Lucas Fares; Almontashiri, Naif A.; Baptista, Julia; Alghamdi, Malak Ali; Boissel, Sarah; Martinovic, Jelena; Prokudin, Ivan; Holden, Samantha; Mudhar, Hardeep-Singh; Riley, Lisa G.; Nassif, Christina; Attie-Bitach, Tania; Miguet, Marguerite; Delous, Marion; Ernest, Sylvain; Plaisancie, Julie; Calvas, Patrick; Rozet, Jean-Michel; Khan, Arif O.; Hamdan, Fadi F.; Jamieson, Robyn, V; Alkuraya, Fowzan S.; Michaud, Jacques L.; Chassaing, Nicolas 分享 收藏
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking Duclaux-Loras, Remi; Lebreton, Corinne; Berthelet, Jeremy; Charbit-Henrion, Fabienne; Nicolle, Ophelie; de Courtils, Celine Revenu; Waich, Stephanie; Valovka, Taras; Khiat, Anis; Rabant, Marion; Racine, Caroline; Guerrera, Ida Chiara; Baptista, Julia; Mahe, Maxime M.; Hess, Michael W.; Durel, Beatrice; Lefort, Nathalie; Banal, Celine; Parisot, Melanie; Talbotec, Cecile; Lacaille, Florence; Ecochard-Dugelay, Emmanuelle; Demir, Arzu Meltem; Vogel, Georg F.; Faivre, Laurence; Rodrigues, Astor; Fowler, Darren; Janecke, Andreas R.; Mueller, Thomas; Huber, Lukas A.; Rodrigues-Lima, Fernando; Ruemmele, Frank M.; Uhlig, Holm H.; Bene, Filippo Del; Michaux, Gregoire; Cerf-Bensussan, Nadine; Parlato, Marianna 分享 收藏
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation Coolen, Marion; Altin, Nami; Rajamani, Karthyayani; Pereira, Eva; Siquier-Pernet, Karine; Lombardi, Emilia Puig; Moreno, Nadjeda; Barcia, Giulia; Yvert, Marianne; Laquerriere, Annie; Pouliet, Aurore; Nitschke, Patrick; Boddaert, Nathalie; Rausell, Antonio; Razavi, Ferechte; Afenjar, Alexandra; de Villemeur, Thierry Billette; Al-Maawali, Almundher; Al-Thihli, Khalid; Baptista, Julia; Beleza-Meireles, Ana; Garel, Catherine; Legendre, Marine; Gelot, Antoinette; Burglen, Lydie; Moutton, Sebastien; Cantagrel, Vincent 分享 收藏
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder Broly, Martin; Polevoda, Bogdan, V; Awayda, Kamel M.; Tong, Ning; Lentini, Jenna; Besnard, Thomas; Deb, Wallid; O'Rourke, Declan; Baptista, Julia; Ellard, Sian; Almannai, Mohammed; Hashem, Mais; Abdulwahab, Ferdous; Shamseldin, Hanan; Al-Tala, Saeed; Alkuraya, Fowzan S.; Leon, Alberta; van Loon, Rosa L. E.; Ferlini, Alessandra; Sanchini, Mariabeatrice; Bigoni, Stefania; Ciorba, Andrea; van Bokhoven, Hans; Iqbal, Zafar; Al-Maawali, Almundher; Al-Murshedi, Fathiya; Ganesh, Anuradha; Al-Mamari, Watfa; Lim, Sze Chern; Pais, Lynn S.; Brown, Natasha; Riazuddin, Saima; Bezieau, Stephane; Fu, Dragony; Isidor, Bertrand; Cogne, Benjamin; O'Connell, Mitchell R. 分享 收藏
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De novo missense variants in DDX39B cause a novel syndrome characterized by neurodevelopmental delay, short stature and congenital hypotonia Treat, Kayla; Jangam, Sharayu; Yamamoto, Shinya; White, Kerry; Kanca, Oguz; Christensen, Celanie; Lynch, Sally; Baptista, Julia; Tsang, Mandy H. Y.; Jay, Kristy; Chung, Brian H. Y.; Yuen, Liz Y. P.; Chui, Martin M. C.; Bellen, Hugo; Wangler, Michael; Conboy, Erin; Vetrini, Francesco 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
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
L1CAM variants cause two distinct imaging phenotypes on fetal MRI Accogli, Andrea; Goergen, Stacy; Izzo, Giana; Mankad, Kshitij; Haratz, Karina Krajden; Parazzini, Cecilia; Fahey, Michael; Menzies, Lara; Baptista, Julia; Carpineta, Lucia; Tortora, Domenico; Fulcheri, Ezio; Vellone, Valerio Gaetano; Paladini, Dario; Spaccini, Luigina; Toto, Valentina; Trayers, Claire; Ben Sira, Liat; Reches, Adi; Malinger, Gustavo; Salpietro, Vincenzo; De Marco, Patrizia; Srour, Myriam; Zara, Federico; Capra, Valeria; Rossi, Andrea; Severino, Mariasavina 分享 收藏
Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology Hegarty, Robert; Gibson, Philippa; Sambrotta, Melissa; Strautnieks, Sandra; Foskett, Pierre; Ellard, Sian; Baptista, Julia; Lillis, Suzanne; Bansal, Sanjay; Vara, Roshni; Dhawan, Anil; Grammatikopoulos, Tassos; Thompson, Richard J. 分享 收藏
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