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

Exploring the principles of logotherapy in genetic counseling: Enhancing decision-making, adaptation, and justice

探索意义疗法在遗传咨询中的应用:提升决策能力、适应能力和公正性

Chanouha, Nour; Chassevent, Anna; Macnamara, Ellen F; Schaa, Kendra; Thoeny, Renata; Tansey, Janeta

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

BCL11A 智力发育障碍:临床谱系及基因型-表型相关性定义

Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M; Bouman, Arjan; Bruel, Ange-Line; Busk, Øyvind Løvold; Campeau, Philippe M; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J; Earl, Dawn L; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B A; Guillemot, Francois; Dobyns, William B; Viskochil, David; Dias, Cristina

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

EZH1基因的功能获得性变异和功能丧失性变异会破坏神经发生,并导致显性和隐性神经发育障碍。

Carolina Gracia-Diaz,Yijing Zhou,Qian Yang #,Reza Maroofian #,Paula Espana-Bonilla #,Chul-Hwan Lee,Shuo Zhang,Natàlia Padilla,Raquel Fueyo,Elisa A Waxman,Sunyimeng Lei,Garrett Otrimski,Dong Li,Sarah E Sheppard,Paul Mark,Margaret H Harr,Hakon Hakonarson,Lance Rodan ,Adam Jackson ,Pradeep Vasudevan,Corrina Powel,Shehla Mohammed,Sateesh Maddirevula,Hamad Alzaidan,Eissa A Faqeih,Stephanie Efthymiou,Valentina Turchetti,Fatima Rahman , Shazia Maqbool , Vincenzo Salpietro,Shahnaz H Ibrahim , Gabriella di Rosa , Henry Houlden,Maha Nasser Alharbi , Nouriya Abbas Al-Sannaa , Peter Bauer , Giovanni Zifarelli , Conchi Estaras , Anna C E Hurst , Michelle L Thompson , Anna Chassevent , Constance L Smith-Hicks  ,Xavier de la Cruz  ,Alexander M Holtz,Houda Zghal Elloumi , M J Hajianpour , Claudine Rieubland , Dominique Braun , Siddharth Banka    ; Genomic England Research Consortium; Deborah L French,Elizabeth A Heller,Murielle Saade,Hongjun Song,Guo-Li Ming,Fowzan S Alkuraya  ,Pankaj B Agrawal  ,Danny Reinberg , Elizabeth J Bhoj,Marian A Martínez-Balbás,Naiara Akizu

mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion

mTORC1 功能分析揭示 SZT2 功能丧失变异和创始框内缺失

Jeffrey D Calhoun, Miriam C Aziz, Hannah C Happ, Jonathan Gunti, Colleen Gleason, Najma Mohamed, Kristy Zeng, Meredith Hiller, Emily Bryant, Divakar S Mithal, Irena Bellinski, Lisa Kinsley, Mona Grimmel, Eva M C Schwaibold, Constance Smith-Hicks, Anna Chassevent, Marcello Scala, Andrea Accogli, Anna

The different clinical facets of SYN1-related neurodevelopmental disorders

SYN1相关神经发育障碍的不同临床表现

Parenti, Ilaria; Leitão, Elsa; Kuechler, Alma; Villard, Laurent; Goizet, Cyril; Courdier, Cécile; Bayat, Allan; Rossi, Alessandra; Julia, Sophie; Bruel, Ange-Line; Tran Mau-Them, Frédéric; Nambot, Sophie; Lehalle, Daphné; Willems, Marjolaine; Lespinasse, James; Ghoumid, Jamal; Caumes, Roseline; Smol, Thomas; El Chehadeh, Salima; Schaefer, Elise; Abi-Warde, Marie-Thérèse; Keren, Boris; Afenjar, Alexandra; Tabet, Anne-Claude; Levy, Jonathan; Maruani, Anna; Aledo-Serrano, Ángel; Garming, Waltraud; Milleret-Pignot, Clara; Chassevent, Anna; Koopmans, Marije; Verbeek, Nienke E; Person, Richard; Belles, Rebecca; Bellus, Gary; Salbert, Bonnie A; Kaiser, Frank J; Mazzola, Laure; Convers, Philippe; Perrin, Laurine; Piton, Amélie; Wiegand, Gert; Accogli, Andrea; Brancati, Francesco; Benfenati, Fabio; Chatron, Nicolas; Lewis-Smith, David; Thomas, Rhys H; Zara, Federico; Striano, Pasquale; Lesca, Gaetan; Depienne, Christel

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

SPATA5L1基因的双等位基因变异会导致智力障碍、痉挛性肌张力障碍性脑瘫、癫痫和听力丧失。

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; Morleo, Manuela; 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 Clementina; Mancini, Cecilia; Claps Sepulveda, Dianela Judith; McWalter, Kirsty; Begtrup, Amber; Crunk, Amy; Guillen Sacoto, Maria J; 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; MacLennan, 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; Rad, Aboulfazl; Vona, Barbara; Jin, Sheng Chih; Haack, Tobias B; Makowski, Christine; Hirsch, Yoel; Riazuddin, Saima; Kruer, Michael C

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

PPP2R1A 相关神经发育障碍的广泛表型谱与生化功能障碍的程度相关

Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frédéric Laumonnier, Annick Toutain, Frédérique Bonnet-Brilhault, Yana Hoorne, Shelagh Joss, Anna K Chassevent, Constance Smith-Hicks, Bart Loeys, Pascal Joset, Katharina Steindl, Anita Rauch, Sarju G Mehta, Wendy K Chung, Koenraad Devriendt, Susan E Hol

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

SHANK1 基因的截短变体与一系列神经发育障碍有关

Halie J May #, Jaehoon Jeong #, Anya Revah-Politi, Julie S Cohen, Anna Chassevent, Julia Baptista, Evan H Baugh, Louise Bier, Armand Bottani, Maria Teresa Carminho A Rodrigues, Charles Conlon, Joel Fluss, Michel Guipponi, Chong Ae Kim, Naomichi Matsumoto, Richard Person, Michelle Primiano, Julia Ran

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

TAOK1 与神经发育障碍有关,对神经元成熟和皮质发育至关重要

Geeske M van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Natasha E Shur, Kristin Barañano, Sonal Mahida, Anna Chassevent, Allison Schreiber, Angelika L Erwin, Karen W Gripp, Fatima Rehman, Saskia Brulleman, Róisín McCormack, Gwynna de Geus, Louisa Kalsner, Arthu

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

KIF21B 驱动蛋白基因突变通过失衡的典型运动活动导致神经发育障碍

Laure Asselin, José Rivera Alvarez #, Solveig Heide #, Camille S Bonnet #, Peggy Tilly, Hélène Vitet, Chantal Weber, Carlos A Bacino, Kristin Baranaño, Anna Chassevent, Amy Dameron, Laurence Faivre, Neil A Hanchard, Sonal Mahida, Kirsty McWalter, Cyril Mignot, Caroline Nava, Agnès Rastetter, Haley S