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

Impaired retinoic acid receptor-γ signaling underlies a heritable form of urothelial keratinizing squamous metaplasia

视黄酸受体γ信号传导受损是遗传性尿路上皮角化鳞状化生症的根本原因。

Fukushima, Kaya; Avery, Nicole; Desjardins, Jade; Halliday, Benjamin J; Jenkins, Zandra A; Porteous, Robert; Morgan, Tim; Parthasarathy, Padmini; Lau, Michael; Vincent, Michael W; Liu, Karen J; Twigg, Stephen R F; Robertson, Stephen P

Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications

探索生物纳米光学基因组图谱的尺寸极限,以解析连锁散在染色体重复的替代结构

Pei, Yang; Calpena, Eduardo; Brown, Jill M; Schwessinger, Ron; Platts, Lucy; McGowan, Simon J; Ashraf, Tazeen; Forzano, Francesca; Hurst, Jane A; Jones, Wendy D; Sarkar, Ajoy; Gibbons, Richard J; Twigg, Stephen R F; Wilkie, Andrew O M

BCL11B-related disease: a single phenotypic entity?

BCL11B相关疾病:单一表型实体?

Vedovato-Dos-Santos, J Heather; Tooze, Rebecca S; Sithambaram, Sivagamy; McCann, Emma; Alanay, Yasemin; Dogan, Ozlem A; Kilercik, Meltem; Bingol, Aysen; Ozek, Memet M; Johnson, David; Nellaker, Christoffer; Wilkie, Andrew O M; Twigg, Stephen R F

The power of mouse models in the diagnostic odyssey of patients with rare congenital anomalies

小鼠模型在罕见先天性异常患者诊断历程中的作用

Twigg, Stephen R F; Greene, Nicholas D E; Henderson, Deborah J; Mill, Pleasantine; Liu, Karen J

Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans

短链脱氢酶/还原酶 3 (DHRS3) 缺乏症的鉴定和表征,一种人类视黄酸胚胎病

Hashimoto, Akiko Soneda; Yu, Jianshi; Williams, Christina; Gaudenz, Karin; Varshosaz, Parisa; Zhao, Ruonan; Pilli, Nageswara; Liu, Tian; Russell, Jonathon; Tooze, Rebecca S; Twigg, Stephen R F; Banka, Siddharth; Sweeney, Elizabeth; McGowan, Simon J; Knight, Samantha J L; Taylor, Jenny C; Froukh, Tawfiq Jamal; Palafoll, M Irene Valenzuela; Martínez-Gil, Núria; Costa-Roger, Mar; Villarreal-Molina, Maria Teresa; Lieberman Hernandez, Esther; Abou Jamra, Rami; Gattermann, Felix; Koch-Hogrebe, Margarete; Wieczorek, Dagmar; Trainor, Paul A; Moise, Alexander R; Wilkie, Andrew O M; Kane, Maureen A

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients

通过对八名新患者的鉴定,MEGF8相关卡彭特综合征(CRPT2)的表型得到了完善。

Watts, Laura M; Bertoli, Marta; Attie-Bitach, Tania; Roux, Natalie; Rausell, Antonio; Paschal, Cate R; Zambonin, Jessica L; Curry, Cynthia J; Martin, Blanche; Tooze, Rebecca S; Hawkes, Lara; Kini, Usha; Twigg, Stephen R F; Wilkie, Andrew O M

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome

BTB结构域突变干扰KCTD15寡聚化,导致一种独特的额鼻发育不良综合征。

Miller, Kerry A; Cruz Walma, David A; Pinkas, Daniel M; Tooze, Rebecca S; Bufton, Joshua C; Richardson, William; Manning, Charlotte E; Hunt, Alice E; Cros, Julien; Hartill, Verity; Parker, Michael J; McGowan, Simon J; Twigg, Stephen R F; Chalk, Rod; Staunton, David; Johnson, David; Wilkie, Andrew O M; Bullock, Alex N

Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus

由KCNJ2-KCNJ16基因座复杂结构重排引起的家族性重度骨性II类错颌畸形伴牙龈增生

Maroofian, Reza; Pagnamenta, Alistair T; Navabazam, Alireza; Schwessinger, Ron; Roberts, Hannah E; Lopopolo, Maria; Dehghani, Mohammadreza; Vahidi Mehrjardi, Mohammad Yahya; Haerian, Alireza; Soltanianzadeh, Mojtaba; Noori Kooshki, Mohammad Hadi; Knight, Samantha J L; Miller, Kerry A; McGowan, Simon J; Chatron, Nicolas; Timberlake, Andrew T; Melo, Uirá Souto; Mundlos, Stefan; Buck, David; Twigg, Stephen R F; Taylor, Jenny C; Wilkie, Andrew O M; Calpena, Eduardo

A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.

以光学基因组图谱为基准,比较基于短读长和纳米孔的全基因组测序的结构变异检测。

Pei Yang, Tanguy Melanie, Giess Adam, Dixit Abhijit, Wilson Louise C, Gibbons Richard J, Twigg Stephen R F, Elgar Greg, Wilkie Andrew O M

Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis

重新评估关联性:RUNX2多聚丙氨酸缺失变异体与非综合征性矢状缝和额缝早闭症的评估

Walton, Isaac S; McCann, Emma; Weber, Astrid; Morton, Jenny E V; Noons, Peter; Wilson, Louise C; Ching, Rosanna C; Cilliers, Deirdre; Johnson, David; Phipps, Julie M; Shears, Deborah J; Thomas, Gregory P L; Wall, Steven A; Twigg, Stephen R F; Wilkie, Andrew O M