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

Fathers' and Mothers' support needs and support experiences after rapid genome sequencing

快速基因组测序后父母的支持需求和支持经验

Dolling, Helen; Rowitch, Sophie; Bromham, Malachy; Archer, Stephanie; O'Curry, Sara; Rowitch, David H; Raymond, F Lucy; Hughes, Claire; Baker, Kate

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum

先天性肌钙蛋白病:疾病谱中最严重阶段的全面特征描述

Coppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S; Griffin, Kaitlyn R; Jones, Kristi J; Vilain, Catheline N; Kadhim, Hazim; Bryen, Samantha J; Faiz, Fathimath; Waddell, Leigh B; Evesson, Frances J; Bakshi, Madhura; Pinner, Jason R; Charlton, Amanda; Brammah, Susan; Graf, Nicole S; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C; Illingworth, Marjorie A; Thomas, Neil H; Ellard, Sian; Mazanti, Ingrid; Park, Soo-Mi; French, Courtney E; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J; Splitt, Miranda P; Moldovan, Corina; de Silva, Deepthi C; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T; Laing, Nigel G; Raymond, F Lucy; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Manzur, Adnan; Corley, Susan M; Ravenscroft, Gianina; Wilkins, Marc R; Cowley, Mark J; Pinese, Mark; Phadke, Rahul; Davis, Mark R; Muntoni, Francesco; Oates, Emily C

Post-ictal Psychosis: clinical case presentation and literature review

发作后精神病:临床病例介绍及文献综述

Cif, Laura; Demailly, Diane; Lin, Jean-Pierre; Barwick, Katy E; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W; Applegate, Carolyn D; Isfahani, Sanaz Attaripour; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A; Baple, Emma L; Bhatia, Kailash P; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; d'Hardemare, Vincent; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E; Farrelly, Ellyn; Fitzpatrick, David R; Fearon, Conor; Fieg, Elizabeth L; Fogel, Brent L; Forman, Eva B; Fox, Rachel G; Gahl, William A; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J; Hamosh, Ada; Hully, Marie; Jansen, Sandra; Jeong, Suh Young; Krier, Joel B; Krystal, Sidney; Kumar, Kishore R; Laurencin, Chloé; Lee, Hane; Lesca, Gaetan; François, Laurence Lion; Lynch, Timothy; Mahant, Neil; Martinez-Agosto, Julian A; Milesi, Christophe; Mills, Kelly A; Mondain, Michel; Morales-Briceno, Hugo; Ostergaard, John R; Pal, Swasti; Pallais, Juan C; Pavillard, Frédérique; Perrigault, Pierre-Francois; Petersen, Andrea K; Polo, Gustavo; Poulen, Gaetan; Rinne, Tuula; Roujeau, Thomas; Rogers, Caleb; Roubertie, Agathe; Sahagian, Michelle; Schaefer, Elise; Selim, Laila; Selway, Richard; Sharma, Nutan; Signer, Rebecca; Soldatos, Ariane G; Stevenson, David A; Stewart, Fiona; Tchan, Michel; Verma, Ishwar C; de Vries, Bert B A; Wilson, Jenny L; Wong, Derek A; Zaitoun, Raghda; Zhen, Dolly; Znaczko, Anna; Dale, Russell C; de Gusmão, Claudio M; Friedman, Jennifer; Fung, Victor S C; King, Mary D; Mohammad, Shekeeb S; Rohena, Luis; Waugh, Jeff L; Toro, Camilo; Raymond, F Lucy; Topf, Maya; Coubes, Philippe; Gorman, Kathleen M; Kurian, Manju A; Ramalheira, F; Vasconcelos, M D C; Andrade, M; Pereira, M

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships

ClinGen综合征疾病基因注释专家组:评估111个基因-疾病关系的临床有效性

Broeren, Eleanor C; Gitau, Vanessa N; Byrne, Alicia B; Ajuyah, Pamela; Balzotti, Marie B; Berg, Jonathan S; Bluske, Krista; Bowen, B Monica; Brown, Matthew P; Buchanan, Amanda; Burns, Brendan T; Burns, Nicole J; Chandrasekhar, Anjana; Chawla, Aditi; Chong, Jessica X; Chopra, Maya; Clause, Amanda R; DiStefano, Marina T; DiTroia, Stephanie; Elnagheeb, Marwa A; Girod, Amanda N; Goel, Himanshu; Golden-Grant, Katie L; Ha, Thuong; Hamosh, Ada; Huang, Jennifer M; Hughes, Madeline Y; Jamuar, Saumya S; Kam, Sylvia; Kesari, Akanchha; Koh, Ai Ling; Lassiter, Rhonda N T; Leigh, Sarah E; Lemire, Gabrielle; Lim, Jiin Ying; Malhotra, Alka; McCurry, Hannah R; Milewski, Becky; Moosa, Shahida; Murray, Stephen A; Owens, Emma H; Palmer, Elizabeth E; Palus, Brooke C; Patel, Mayher J; Rajkumar, Revathi; Ratliff, Julie C; Raymond, F Lucy; Della Ripa Rodrigues Assis, Bruno; Sajan, Samin A; Schlachetzki, Zinayida; Schmidt, Sarah A; Stark, Zornitza; Strom, Samuel P; Taylor, Julie P; Thaxton, Courtney; Thrush, Devon L; Toro, Sabrina; Tshering, Kezang C; Vasilevsky, Nicole A; Wayburn, Bess; Webb, Ryan F; O'Donnell-Luria, Anne; Coffey, Alison J

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

ClinGen综合征疾病基因注释专家组:评估111个基因-疾病关系的临床有效性

Broeren, Eleanor; Gitau, Vanessa; Byrne, Alicia; Ajuyah, Pamela; Balzotti, Marie; Berg, Jonathan; Bluske, Krista; Bowen, B Monica; Brown, Matthew P; Buchanan, Amanda; Burns, Brendan; Burns, Nicole J; Chandrasekhar, Anjana; Chawla, Aditi; Chong, Jessica; Chopra, Maya; Clause, Amanda; DiStefano, Marina; DiTroia, Stephanie; Elnagheeb, Marwa; Girod, Amanda; Goel, Himanshu; Golden-Grant, Katie; Ha, Thuong; Hamosh, Ada; Huang, Jennifer; Hughes, Madeline; Jamuar, Saumya; Kam, Sylvia; Kesari, Akanchha; Koh, Ai Ling; Lassiter, Rhonda; Leigh, Sarah; Lemire, Gabrielle; Lim, Jiin Ying; Malhotra, Alka; McCurry, Hannah; Milewski, Becky; Moosa, Shahida; Murray, Stephen; Owens, Emma; Palmer, Emma; Palus, Brooke; Patel, Mayher; Rajkumar, Revathi; Ratliff, Julie; Raymond, F Lucy; Assis, Bruno Della Ripa Rodrigues; Sajan, Samin; Schlachetzki, Zinayida; Schmidt, Sarah; Stark, Zornitza; Strom, Samuel; Taylor, Julie; Thaxton, Courtney; Thrush, Devon; Toro, Sabrina; Tshering, Kezang; Vasilevsky, Nicole; Wayburn, Bess; Webb, Ryan; O'Donnell-Luria, Anne; Coffey, Alison J

Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy

BRAT1脑病新生儿的临床和神经生理表型

Carapancea, Evelina; Cornet, Marie-Coralie; Milh, Mathieu; De Cosmo, Lucrezia; Huang, Eric J; Granata, Tiziana; Striano, Pasquale; Ceulemans, Berten; Stein, Anja; Morris-Rosendahl, Deborah; Conti, Greta; Mitra, Nipa; Raymond, F Lucy; Rowitch, David H; Solazzi, Roberta; Vercellino, Fabiana; De Liso, Paola; D'Onofrio, Gianluca; Boniver, Clementina; Danhaive, Olivier; Carkeek, Katherine; Salpietro, Vincenzo; Weckhuysen, Sarah; Fedrigo, Marny; Angelini, Annalisa; Castellotti, Barbara; Lederer, Damien; Benoit, Valerie; Raviglione, Federico; Guerrini, Renzo; Dilena, Robertino; Cilio, Maria Roberta

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

对465个患有神经发育障碍的家庭进行基因组测序和全面的罕见变异分析

Sanchis-Juan, Alba; Megy, Karyn; Stephens, Jonathan; Armirola Ricaurte, Camila; Dewhurst, Eleanor; Low, Kayyi; French, Courtney E; Grozeva, Detelina; Stirrups, Kathleen; Erwood, Marie; McTague, Amy; Penkett, Christopher J; Shamardina, Olga; Tuna, Salih; Daugherty, Louise C; Gleadall, Nicholas; Duarte, Sofia T; Hedrera-Fernández, Antonio; Vogt, Julie; Ambegaonkar, Gautam; Chitre, Manali; Josifova, Dragana; Kurian, Manju A; Parker, Alasdair; Rankin, Julia; Reid, Evan; Wakeling, Emma; Wassmer, Evangeline; Woods, C Geoffrey; Raymond, F Lucy; Carss, Keren J

Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach

利用机器学习方法识别与智力障碍相关的基因组疾病的神经发育和精神病学特征

Donnelly, Nicholas; Cunningham, Adam; Salas, Sergio Marco; Bracher-Smith, Matthew; Chawner, Samuel; Stochl, Jan; Ford, Tamsin; Raymond, F Lucy; Escott-Price, Valentina; van den Bree, Marianne B M

Mapping the Constrained Coding Regions in the Human Genome to Their Corresponding Proteins

将人类基因组中的受限编码区与其对应的蛋白质进行映射

Hasenahuer, Marcia A; Sanchis-Juan, Alba; Laskowski, Roman A; Baker, James A; Stephenson, James D; Orengo, Christine A; Raymond, F Lucy; Thornton, Janet M

Mental health impact of autism on families of children with intellectual and developmental disabilities of genetic origin

自闭症对患有遗传性智力及发育障碍儿童家庭的心理健康影响

Wolstencroft, Jeanne; Srinivasan, Ramya; Hall, Jeremy; van den Bree, Marianne B M; Owen, Michael J; Raymond, F Lucy; Skuse, David