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

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

基因组测序在诊断中的成功应用:来自临床异质性队列的1007例指标病例

Bertoli-Avella, Aida M; Beetz, Christian; Ameziane, Najim; Rocha, Maria Eugenia; Guatibonza, Pilar; Pereira, Catarina; Calvo, Maria; Herrera-Ordonez, Natalia; Segura-Castel, Monica; Diego-Alvarez, Dan; Zawada, Michal; Kandaswamy, Krishna K; Werber, Martin; Paknia, Omid; Zielske, Susan; Ugrinovski, Dimitar; Warnack, Gitte; Kampe, Kapil; Iurașcu, Marius-Ionuț; Cozma, Claudia; Vogel, Florian; Alhashem, Amal; Hertecant, Jozef; Al-Shamsi, Aisha M; Alswaid, Abdulrahman Faiz; Eyaid, Wafaa; Al Mutairi, Fuad; Alfares, Ahmed; Albalwi, Mohammed A; Alfadhel, Majid; Al-Sannaa, Nouriya Abbas; Reardon, Willie; Alanay, Yasemin; Rolfs, Arndt; Bauer, Peter

Novel clinical and genetic insight into CXorf56-associated intellectual disability.

对 CXorf56 相关智力障碍的全新临床和遗传学见解

Rocha Maria Eugenia, Silveira Tainá Regina Damaceno, Sasaki Erina, Sás Daíse Moreno, Lourenço Charles Marques, Kandaswamy Krishna K, Beetz Christian, Rolfs Arndt, Bauer Peter, Reardon Willie, Bertoli-Avella Aida M

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

阐明欧洲大型人群中亚当斯-奥利弗综合征的遗传结构

Meester, Josephina A N; Sukalo, Maja; Schröder, Kim C; Schanze, Denny; Baynam, Gareth; Borck, Guntram; Bramswig, Nuria C; Duman, Duygu; Gilbert-Dussardier, Brigitte; Holder-Espinasse, Muriel; Itin, Peter; Johnson, Diana S; Joss, Shelagh; Koillinen, Hannele; McKenzie, Fiona; Morton, Jenny; Nelle, Heike; Reardon, Willie; Roll, Claudia; Salih, Mustafa A; Savarirayan, Ravi; Scurr, Ingrid; Splitt, Miranda; Thompson, Elizabeth; Titheradge, Hannah; Travers, Colm P; Van Maldergem, Lionel; Whiteford, Margo; Wieczorek, Dagmar; Vandeweyer, Geert; Trembath, Richard; Van Laer, Lut; Loeys, Bart L; Zenker, Martin; Southgate, Laura; Wuyts, Wim

Further delineation of the KAT6B molecular and phenotypic spectrum

进一步阐明KAT6B的分子和表型谱

Gannon, Tamsin; Perveen, Rahat; Schlecht, Hélene; Ramsden, Simon; Anderson, Beverley; Kerr, Bronwyn; Day, Ruth; Banka, Siddharth; Suri, Mohnish; Berland, Siren; Gabbett, Michael; Ma, Alan; Lyonnet, Stan; Cormier-Daire, Valerie; Yilmaz, Rüstem; Borck, Guntram; Wieczorek, Dagmar; Anderlid, Britt-Marie; Smithson, Sarah; Vogt, Julie; Moore-Barton, Heather; Simsek-Kiper, Pelin Ozlem; Maystadt, Isabelle; Destrée, Anne; Bucher, Jessica; Angle, Brad; Mohammed, Shehla; Wakeling, Emma; Price, Sue; Singer, Amihood; Sznajer, Yves; Toutain, Annick; Haye, Damien; Newbury-Ecob, Ruth; Fradin, Melanie; McGaughran, Julie; Tuysuz, Beyhan; Tein, Mark; Bouman, Katelijne; Dabir, Tabib; Van den Ende, Jenneke; Luk, Ho Ming; Pilz, Daniela T; Eason, Jacqueline; Davies, Sally; Reardon, Willie; Garavelli, Livia; Zuffardi, Orsetta; Devriendt, Koen; Armstrong, Ruth; Johnson, Diana; Doco-Fenzy, Martine; Bijlsma, Emilia; Unger, Sheila; Veenstra-Knol, Hermine E; Kohlhase, Jürgen; Lo, Ivan F M; Smith, Janine; Clayton-Smith, Jill

FBN1 contributing to familial congenital diaphragmatic hernia

FBN1 基因与家族性先天性膈疝有关

Beck, Tyler F; Campeau, Philippe M; Jhangiani, Shalini N; Gambin, Tomasz; Li, Alexander H; Abo-Zahrah, Reem; Jordan, Valerie K; Hernandez-Garcia, Andres; Wiszniewski, Wojciech K; Muzny, Donna; Gibbs, Richard A; Boerwinkle, Eric; Lupski, James R; Lee, Brendan; Reardon, Willie; Scott, Daryl A

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

耳面综合征和食管闭锁、智力障碍和颧骨异常——扩展与 EFTUD2 突变相关的表型

Voigt, Claudia; Mégarbané, André; Neveling, Kornelia; Czeschik, Johanna Christina; Albrecht, Beate; Callewaert, Bert; von Deimling, Florian; Hehr, Andreas; Falkenberg Smeland, Marie; König, Rainer; Kuechler, Alma; Marcelis, Carlo; Puiu, Maria; Reardon, Willie; Riise Stensland, Hilde Monica Frostad; Schweiger, Bernd; Steehouwer, Marloes; Teller, Christopher; Martin, Marcel; Rahmann, Sven; Hehr, Ute; Brunner, Han G; Lüdecke, Hermann-Josef; Wieczorek, Dagmar

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

编码组蛋白乙酰转移酶 KAT6B 的基因发生新生突变会导致生殖器髌骨综合征。

Simpson, Michael A; Deshpande, Charu; Dafou, Dimitra; Vissers, Lisenka E L M; Woollard, Wesley J; Holder, Susan E; Gillessen-Kaesbach, Gabriele; Derks, Ronny; White, Susan M; Cohen-Snuijf, Ruthy; Kant, Sarina G; Hoefsloot, Lies H; Reardon, Willie; Brunner, Han G; Bongers, Ernie M H F; Trembath, Richard C

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

亲代插入平衡易位是发育异常患者中表观新生拷贝数变异的重要原因。

Nowakowska, Beata A; de Leeuw, Nicole; Ruivenkamp, Claudia Al; Sikkema-Raddatz, Birgit; Crolla, John A; Thoelen, Reinhilde; Koopmans, Marije; den Hollander, Nicolette; van Haeringen, Arie; van der Kevie-Kersemaekers, Anne-Marie; Pfundt, Rolph; Mieloo, Hanneke; van Essen, Ton; de Vries, Bert B A; Green, Andrew; Reardon, Willie; Fryns, Jean-Pierre; Vermeesch, Joris R

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

ARHGAP31(一种Cdc42/Rac1 GTP酶调节因子)的功能获得性突变会导致综合征性皮肤发育不全和肢体畸形。

Southgate, Laura; Machado, Rajiv D; Snape, Katie M; Primeau, Martin; Dafou, Dimitra; Ruddy, Deborah M; Branney, Peter A; Fisher, Malcolm; Lee, Grace J; Simpson, Michael A; He, Yi; Bradshaw, Teisha Y; Blaumeiser, Bettina; Winship, William S; Reardon, Willie; Maher, Eamonn R; FitzPatrick, David R; Wuyts, Wim; Zenker, Martin; Lamarche-Vane, Nathalie; Trembath, Richard C

Mutations in HPSE2 cause urofacial syndrome

HPSE2基因突变会导致尿面部综合征

Daly, Sarah B; Urquhart, Jill E; Hilton, Emma; McKenzie, Edward A; Kammerer, Richard A; Lewis, Malcolm; Kerr, Bronwyn; Stuart, Helen; Donnai, Dian; Long, David A; Burgu, Berk; Aydogdu, Ozgu; Derbent, Murat; Garcia-Minaur, Sixto; Reardon, Willie; Gener, Blanca; Shalev, Stavit; Smith, Rupert; Woolf, Adrian S; Black, Graeme C; Newman, William G