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

Dysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasia.

基质金属蛋白酶在胶状骨发育不良中导致细胞迁移失调

Morales Alejo A, Camarena Vladimir, Peart LéShon, Smithson Sarah, Shaw Lindsay, Webber Lucy, Negron Jose M, Sola Juan E, Brady Ann-Christina, Walz Katherina, Wang Gaofeng, Tekin Mustafa

A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia

隐匿性 CBFB 缺失-倒位扩展了与锁骨颅骨发育不良相关的变异突变谱

Pagnamenta, Alistair T; Hashim, Mona; Kennedy, Joanna; Lawton, Beth; Offiah, Amaka C; Taylor, Jenny C; Smithson, Sarah F

Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in CTBP1 Identified via Whole Genome Sequencing

通过全基因组测序鉴定出的CTBP1基因杂合新生错义变异导致肌张力低下、共济失调、发育迟缓和牙釉质缺陷综合征(HADDTS)。

Silvia Beatriz Sanchez Marco; Pardington, Emily; Monaghan, Marie; Spaull, Robert; Fadilah, Ala; Kurian, Kathreena; Vijayakumar, Kayal; Smithson, Sarah; Majumdar, Anirban

Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction

先天性拇外翻可见于进行性骨化性纤维发育不良和BMPR1B相关性发育不良:一个重要的区别

Shirodkar, Diksha; Smithson, Sarah Francesca; Keen, Richard; Lester, Tracy; Banos-Pinero, Benito; Burren, Christine Pamela

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders

对患有严重发育障碍的儿童进行基因诊断后的大规模结果评估

Copeland, Harriet; Low, Karen J; Wynn, Sarah L; Ahmed, Ayesha; Arthur, Victoria; Balasubramanian, Meena; Bennett, Katya; Berg, Jonathan; Bertoli, Marta; Bryson, Lisa; Bucknall, Catrin; Campbell, Jamie; Chandler, Kate; Chauhan, Jaynee; Clarkson, Amy; Coles, Rachel; Conti, Hector; Costello, Philandra; Coupar, Tessa; Craig, Amy; Dean, John; Dillon, Amy; Dixit, Abhijit; Drew, Kathryn; Eason, Jacqueline; Forzano, Francesca; Foulds, Nicola; Gardham, Alice; Ghali, Neeti; Green, Andrew; Hanna, William; Harrison, Rachel; Hegarty, Mairead; Higgs, Jenny; Holder, Muriel; Irving, Rachel; Jain, Vani; Johnson, Katie; Jolley, Rachel; Jones, Wendy D; Jones, Gabriela; Joss, Shelagh; Kalinauskiene, Ruta; Kanani, Farah; Kavanagh, Karl; Khan, Mahmudur; Khan, Naz; Kivuva, Emma; Lahiri, Nayana; Lakhani, Neeta; Lampe, Anne; Lynch, Sally Ann; Mansour, Sahar; Marsden, Alice; Massey, Hannah; McKee, Shane; Mohammed, Shehla; Naik, Swati; Nesarajah, Mithushanaa; Newbury-Ecob, Ruth; Osborne, Fiona; Parker, Michael J; Patterson, Jenny; Pottinger, Caroline; Prapa, Matina; Prescott, Katrina; Quinn, Shauna; Radley, Jessica A; Robart, Sarah; Ross, Alison; Rosti, Giulia; Sansbury, Francis H; Sarkar, Ajoy; Searle, Claire; Shannon, Nora; Shears, Debbie; Smithson, Sarah; Stewart, Helen; Suri, Mohnish; Tadros, Shereen; Theobald, Rachel; Thomas, Rhian; Tsoulaki, Olga; Vasudevan, Pradeep; Rodriguez, Maribel Verdesoto; Vittery, Emma; Whyte, Sinead; Woods, Emily; Wright, Thomas; Zocche, David; Firth, Helen V; Wright, Caroline F

Scope of professional roles for genetic counsellors and clinical geneticists in the United Kingdom : Position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society

英国遗传咨询师和临床遗传学家的专业角色范围:代表遗传护士和咨询师协会以及临床遗传学会的立场

Middleton, Anna; Taverner, Nicola; Houghton, Catherine; Smithson, Sarah; Balasubramanian, Meena; Elmslie, Frances

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

由于倒位破坏了 GLI3 和 FBN1,诊断历程的结论

Pagnamenta, Alistair T; Yu, Jing; Evans, Julie; Twiss, Philip; Offiah, Amaka C; Wafik, Mohamed; Mehta, Sarju G; Javaid, Mohammed K; Smithson, Sarah F; Taylor, Jenny C

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum

POU3F3相关疾病:定义表型并扩展分子谱

Rossi, Alessandra; Blok, Lot Snijders; Neuser, Sonja; Klöckner, Chiara; Platzer, Konrad; Faivre, Laurence Olivier; Weigand, Heike; Dentici, Maria L; Tartaglia, Marco; Niceta, Marcello; Alfieri, Paolo; Srivastava, Siddharth; Coulter, David; Smith, Lacey; Vinorum, Kristin; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Torun, Deniz; Arslan, Mutluay; Lauridsen, Mathilde F; Murch, Oliver; Irving, Rachel; Lynch, Sally A; Mehta, Sarju G; Carmichael, Jenny; Zonneveld-Huijssoon, Evelien; de Vries, Bert; Kleefstra, Tjitske; Johannesen, Katrine M; Westphall, Ian T; Hughes, Susan S; Smithson, Sarah; Evans, Julie; Dudding-Byth, Tracy; Simon, Marleen; van Binsbergen, Ellen; Herkert, Johanna C; Beunders, Gea; Oppermann, Henry; Bakal, Mert; Møller, Rikke S; Rubboli, Guido; Bayat, Allan

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

对剪接变异体进行系统分析,在“十万基因组计划”中发现了新的诊断结果。

Blakes, Alexander J M; Wai, Htoo A; Davies, Ian; Moledina, Hassan E; Ruiz, April; Thomas, Tessy; Bunyan, David; Thomas, N Simon; Burren, Christine P; Greenhalgh, Lynn; Lees, Melissa; Pichini, Amanda; Smithson, Sarah F; Taylor Tavares, Ana Lisa; O'Donovan, Peter; Douglas, Andrew G L; Whiffin, Nicola; Baralle, Diana; Lord, Jenny

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