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

Stochasticity in genetics and gene regulation

遗传学和基因调控中的随机性

van Heyningen, Veronica

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia

短读长全基因组测序可识别出大多数先前无法解释的无虹膜症患者的致病变异。

Hall, Hildegard Nikki; Parry, David; Halachev, Mihail; Williamson, Kathleen A; Donnelly, Kevin; Campos Parada, Jose; Bhatia, Shipra; Joseph, Jeffrey; Holden, Simon; Prescott, Trine E; Bitoun, Pierre; Kirk, Edwin P; Newbury-Ecob, Ruth; Lachlan, Katherine; Bernar, Juan; van Heyningen, Veronica; FitzPatrick, David R; Meynert, Alison

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability

在经过严格筛选的X连锁智力障碍患者队列中,鉴定并构建可能致病的顺式调控变异的功能模型

Bengani, Hemant; Grozeva, Detelina; Moyon, Lambert; Bhatia, Shipra; Louros, Susana R; Hope, Jilly; Jackson, Adam; Prendergast, James G; Owen, Liusaidh J; Naville, Magali; Rainger, Jacqueline; Grimes, Graeme; Halachev, Mihail; Murphy, Laura C; Spasic-Boskovic, Olivera; van Heyningen, Veronica; Kind, Peter; Abbott, Catherine M; Osterweil, Emily; Raymond, F Lucy; Roest Crollius, Hugues; FitzPatrick, David R

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction

复发性杂合PAX6错义变异通过对DNA-蛋白质相互作用的可预测影响,导致严重的双侧小眼畸形。

Williamson, Kathleen A; Hall, H Nikki; Owen, Liusaidh J; Livesey, Benjamin J; Hanson, Isabel M; Adams, G G W; Bodek, Simon; Calvas, Patrick; Castle, Bruce; Clarke, Michael; Deng, Alexander T; Edery, Patrick; Fisher, Richard; Gillessen-Kaesbach, Gabriele; Heon, Elise; Hurst, Jane; Josifova, Dragana; Lorenz, Birgit; McKee, Shane; Meire, Francoise; Moore, Anthony T; Parker, Michael; Reiff, Charlotte M; Self, Jay; Tobias, Edward S; Verheij, Joke B G M; Willems, Marjolaine; Williams, Denise; van Heyningen, Veronica; Marsh, Joseph A; FitzPatrick, David R

Genome sequencing-the dawn of a game-changing era

基因组测序——一个变革时代的曙光

van Heyningen, Veronica

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

ACTG1基因中反复出现的新生突变会导致孤立性眼部缺损。

Rainger, Joe; Williamson, Kathleen A; Soares, Dinesh C; Truch, Julia; Kurian, Dominic; Gillessen-Kaesbach, Gabriele; Seawright, Anne; Prendergast, James; Halachev, Mihail; Wheeler, Ann; McTeir, Lynn; Gill, Andrew C; van Heyningen, Veronica; Davey, Megan G; FitzPatrick, David R

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

ITPR1基因中特定类型的新生突变会导致吉莱斯皮综合征,并有证据表明其具有显性负效应。

McEntagart, Meriel; Williamson, Kathleen A; Rainger, Jacqueline K; Wheeler, Ann; Seawright, Anne; De Baere, Elfride; Verdin, Hannah; Bergendahl, L Therese; Quigley, Alan; Rainger, Joe; Dixit, Abhijit; Sarkar, Ajoy; López Laso, Eduardo; Sanchez-Carpintero, Rocio; Barrio, Jesus; Bitoun, Pierre; Prescott, Trine; Riise, Ruth; McKee, Shane; Cook, Jackie; McKie, Lisa; Ceulemans, Berten; Meire, Françoise; Temple, I Karen; Prieur, Fabienne; Williams, Jonathan; Clouston, Penny; Németh, Andrea H; Banka, Siddharth; Bengani, Hemant; Handley, Mark; Freyer, Elisabeth; Ross, Allyson; van Heyningen, Veronica; Marsh, Joseph A; Elmslie, Frances; FitzPatrick, David R

Clinical utility gene card for: Aniridia

无虹膜症的临床实用基因卡

Richardson, Rose; Hingorani, Melanie; Van Heyningen, Veronica; Gregory-Evans, Cheryl; Moosajee, Mariya

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

MAB21L2基因的单等位基因和双等位基因突变会导致一系列严重的眼部畸形。

Rainger, Joe; Pehlivan, Davut; Johansson, Stefan; Bengani, Hemant; Sanchez-Pulido, Luis; Williamson, Kathleen A; Ture, Mehmet; Barker, Heather; Rosendahl, Karen; Spranger, Jürgen; Horn, Denise; Meynert, Alison; Floyd, James A B; Prescott, Trine; Anderson, Carl A; Rainger, Jacqueline K; Karaca, Ender; Gonzaga-Jauregui, Claudia; Jhangiani, Shalini; Muzny, Donna M; Seawright, Anne; Soares, Dinesh C; Kharbanda, Mira; Murday, Victoria; Finch, Andrew; Gibbs, Richard A; van Heyningen, Veronica; Taylor, Martin S; Yakut, Tahsin; Knappskog, Per M; Hurles, Matthew E; Ponting, Chris P; Lupski, James R; Houge, Gunnar; FitzPatrick, David R

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

鉴定出位于 SOX9 上游远端且在 Pierre Robin 序列中被破坏的新型颅面调控结构域

Gordon, Christopher T; Attanasio, Catia; Bhatia, Shipra; Benko, Sabina; Ansari, Morad; Tan, Tiong Y; Munnich, Arnold; Pennacchio, Len A; Abadie, Véronique; Temple, I Karen; Goldenberg, Alice; van Heyningen, Veronica; Amiel, Jeanne; FitzPatrick, David; Kleinjan, Dirk A; Visel, Axel; Lyonnet, Stanislas