日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Conserved sleep disturbances in FOXP1 syndrome originate from developmental dysregulation of peptidergic signaling

FOXP1综合征中保守的睡眠障碍源于肽能信号传导的发育失调。

Coll-Tané, Mireia; Eidhof, Ilse; Han, Jie; Raun, Nicholas; van Renssen, Lara V; Fisher, Simon E; Kayser, Matthew S; Kleefstra, Tjitske; Pillen, Sigrid; Hudac, Caitlin M; Mayneris-Perxachs, Jordi; Klein, Marieke; Koene, Saskia; Castells-Nobau, Anna; Schenck, Annette

Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies

将深度表型定量与下一代表型分析相结合,用于研究192名患有生殖系组织细胞病的个体

Lubin, Emily E; Gonzalez, Elizabeth M; Sangree, Annabel K; Durham, Emily L; Klinkhammer, Hannah; Li, Jing-Mei; Smith, Sarina M; Layo-Carris, Dana E; Clark, Kelly J; Melendez-Perez, Ashley J; Wang, Xiao Min; Angireddy, Rajesh; Weiss, Erin E; Barakat, Tahsin Stefan; Mercier, Sandra; Cogné, Benjamin; Koene, Saskia; Hilhorst-Hofstee, Yvonne; Rydzanicz, Malgorzata; Ploski, Rafal; de Los Ángeles Gómez Cano, María; Palomares-Bralo, María; Arévalo, Tania Barragán; Tan, Tiong Yang; Gallacher, Lyndon; MacFarland, Suzanne P; Ahrens-Nicklas, Rebecca C; Nomakuchi, Tomoki T; Bhoj, Elizabeth J K

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism

关键自噬锚定因子EPG5的突变与神经发育障碍和神经退行性疾病(包括早发性帕金森病)相关。

Dafsari, Hormos Salimi; Deneubourg, Celine; Singh, Kritarth; Maroofian, Reza; Suprenant, Zita; Kho, Ay Lin; Ingham, Neil J; Steel, Karen P; Sheshadri, Preethi; Baur, Franciska; Hentrich, Lea; Gerisch, Birgit; Zamani, Mina; Alves, Cesar; Siddiqui, Ata; Dafsari, Haidar S; Salari, Mehri; Lang, Anthony E; Harris, Michael; Abdelaleem, Alice; Sadeghian, Saeid; Azizimalamiri, Reza; Galehdari, Hamid; Shariati, Gholamreza; Sedaghat, Alireza; Zeighami, Jawaher; Calame, Daniel; Marafi, Dana; Duan, Ruizhi; Boehnke, Adrian; Clark, Gary D; Rosenfeld, Jill A; Mohila, Carrie A; Steel, Dora; Chopra, Saurabh; Sharma, Suvasini; Kohlschmidt, Nicolai; Patzer, Steffi; Saffari, Afshin; Ebrahimi-Fakhari, Darius; Çavdartepe, Büşra Eser; Chang, Irene J; Beckman, Erika; Peters, Renate; Fennell, Andrew Paul; Lo, Bernice; Averdunk, Luisa; Distelmaier, Felix; Baethmann, Martina; Elmslie, Frances; Joost, Kairit; Nampoothiri, Sheela; Yesodharan, Dhanya; Mandel, Hanna; Kimball, Amy; Kline, Antonie D; Mignot, Cyril; Keren, Boris; Laugel, Vincent; Õunap, Katrin; Devadathan, Kalpana; van Berkestijn, Frederique M C; Silwal, Arpana; Koene, Saskia; Verma, Sumit; Karim, Mohammed Yousuf; Boubidi, Chahynez; Aziz, Majid; ElGhazali, Gehad; Mattas, Lauren; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Alavi, Shahryar; Nouri, Nayereh; Noruzinia, Mehrdad; Kavousi, Saeideh; Kamath, Arveen; Jayawant, Sandeep; Saneto, Russell; Haridy, Nourelhoda A; Kart, Pinar Ozkan; Cansu, Ali; Joubert, Madeleine; Beneteau, Claire; Stuurman, Kyra E; Wilke, Martina; Barakat, Tahsin Stefan; Tajsharghi, Homa; Scardamaglia, Annarita; Vallian, Sadeq; Hız, Semra; Shoeibi, Ali; Boostani, Reza; Hashemi, Narges; Babaei, Meisam; Alsaleh, Norah Saleh; Porter, Julie; Attié-Bitach, Tania; Marzin, Pauline; Wicher, Dorota; Gold, Jessica I; Schuler, Elisabeth; Kashgari, Amna; Alanazi, Rakan F; Eyaid, Wafaa; Engelen, Marc; Langeveld, Mirjam; Stüve, Burkhard; Li, Yun; Yigit, Gökhan; Wollnik, Bernd; Monje, Mariana H G; Krainc, Dimitri; Mencacci, Niccolò E; Bakhtiari, Somayeh; Kruer, Michael; Argilli, Emanuela; Sherr, Elliott; Jamshidi, Yalda; Karimiani, Ehsan Ghayoor; Cheung, Yiu Wing Sunny; Karin, Ivan; Zifarelli, Giovanni; Bauer, Peter; Chung, Wendy K; Lupski, James R; Kurian, Manju A; Dötsch, Jörg; von Kleist-Retzow, Jürgen-Christoph; Klopstock, Thomas; Wagner, Matias; Yip, Calvin; Roos, Andreas; Carsetti, Rita; Dionisi-Vici, Carlo; Gautel, Mathias; Duchen, Michael R; Antebi, Adam; Houlden, Henry; Fanto, Manolis; Jungbluth, Heinz

The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency

携带生殖系CHEK2缺陷个体的乳腺癌和非乳腺癌的基因组图谱

Hinić, Snežana; van der Post, Rachel S; Vreede, Lilian; Schuurs-Hoeijmakers, Janneke; Koene, Saskia; Jansen, Erik A M; Bervoets-Metge, Franziska; Mensenkamp, Arjen R; Hoogerbrugge, Nicoline; Ligtenberg, Marjolijn J L; de Voer, Richarda M

Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context

在标准患者护理背景下,对患有神经发育障碍的儿童的全外显子组测序 (WES) 数据进行重新分析

van Slobbe, Michelle; van Haeringen, Arie; Vissers, Lisenka E L M; Bijlsma, Emilia K; Rutten, Julie W; Suerink, Manon; Nibbeling, Esther A R; Ruivenkamp, Claudia A L; Koene, Saskia

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

TRIP12 变异个体的神经发育和面部表型

Aerden, Mio; Denommé-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gérard, Bénédicte; Mazel, Benoît; Philippe, Christophe; Pinson, Lucile; Prouteau, Clément; Putoux, Audrey; Tran Mau-Them, Frédéric; Viora-Dupont, Éléonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amélie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortüm, Fanny; Lisfeld, Jasmin; Debray, François-Guillaume; Bramswig, Nuria C; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; López-González, Vanesa; Kibaek, Maria; Tørring, Pernille M; Renieri, Alessandra; Bruno, Lucia Pia; Õunap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands

荷兰对唇裂、牙槽裂和/或腭裂(非综合征型)患者进行诊断性基因组检测

Wurfbain, Lisca Florence; Cox, Inge Lucia; van Dooren, Maria Francisca; Lachmeijer, Augusta Maria Antonia; Verhoeven, Virginie Johanna Maria; van Hagen, Johanna Maria; Heijligers, Malou; Klein Wassink-Ruiter, Jolien Sietske; Koene, Saskia; Maas, Saskia Mariska; Veenstra-Knol, Hermine Elisabeth; Ploos van Amstel, Johannes Kristian; Massink, Maarten Pieter Gerrit; Mink van der Molen, Aebele Barber; van den Boogaard, Marie-José Henriette

DNMT3A overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults

DNMT3A过度生长综合征与儿童和青少年造血系统恶性肿瘤的发生有关

Ferris, Margaret A; Smith, Amanda M; Heath, Sharon E; Duncavage, Eric J; Oberley, Matthew; Freyer, David; Wynn, Robert; Douzgou, Sofia; Maris, John M; Reilly, Anne F; Wu, Melinda D; Choo, Florence; Fiets, Roel B; Koene, Saskia; Spencer, David H; Miller, Christopher A; Shinawi, Marwan; Ley, Timothy J

The Phenotypic Continuum of ATP1A3-Related Disorders

ATP1A3相关疾病的表型连续谱

Vezyroglou, Aikaterini; Akilapa, Rhoda; Barwick, Katy; Koene, Saskia; Brownstein, Catherine A; Holder-Espinasse, Muriel; Fry, Andrew E; Németh, 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

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

多个组蛋白H4基因中反复出现的新生错义突变是神经发育综合征的根本原因。

Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Beleza Meireles, Ana; 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