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

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

一项针对通过外显子组测序检测到的致病基因中嵌合型单核苷酸变异的临床调查

Ye Cao,Mari J Tokita,Edward S Chen,Rajarshi Ghosh,Tiansheng Chen,Yanming Feng,Elizabeth Gorman,Federica Gibellini,Patricia A Ward,Alicia Braxton,Xia Wang,Linyan Meng,Rui Xiao,Weimin Bi,Fan Xia,Christine M Eng,Yaping Yang,Tomasz Gambin,Chad Shaw,Pengfei Liu,Pawel Stankiewicz

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

轻微的PUM1基因突变与成人发病型共济失调有关,而单倍体不足则会导致发育迟缓和癫痫发作。

Vincenzo A Gennarino ,Elizabeth E Palmer ,Laura M McDonell ,Li Wang ,Carolyn J Adamski ,Amanda Koire ,Lauren See ,Chun-An Chen ,Christian P Schaaf ,Jill A Rosenfeld ,Jessica A Panzer ,Ute Moog ,Shuang Hao ,Ann Bye ,Edwin P Kirk ,Pawel Stankiewicz ,Amy M Breman ,Arran McBride ,Tejaswi Kandula ,Holly A Dubbs ,Rebecca Macintosh ,Michael Cardamone ,Ying Zhu ,Kevin Ying ,Kerith-Rae Dias ,Megan T Cho ,Lindsay B Henderson ,Berivan Baskin ,Paula Morris ,Jiang Tao ,Mark J Cowley ,Marcel E Dinger ,Tony Roscioli ,Oana Caluseriu ,Oksana Suchowersky ,Rani K Sachdev ,Olivier Lichtarge ,Jianrong Tang ,Kym M Boycott ,J Lloyd Holder Jr ,Huda Y Zoghbi

Fas/FasL pathway and cytokines in keratinocytes in atopic dermatitis - Manipulation by the electromagnetic field

特应性皮炎角质形成细胞中的Fas/FasL通路和细胞因子——电磁场调控

Szymanski, Lukasz; Cios, Aleksandra; Lewicki, Sławomir; Szymanski, Pawel; Stankiewicz, Wanda

Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing

通过全外显子组测序鉴定圆锥角膜 5q31.1-q35.3 易感位点的 SKP1、PROB1 和 IL17B 基因变异

Justyna A Karolak, Tomasz Gambin, Jose A Pitarque, Andrea Molinari, Shalini Jhangiani, Pawel Stankiewicz, James R Lupski, Marzena Gajecka1

Assessing structural variation in a personal genome-towards a human reference diploid genome

评估个人基因组的结构变异——迈向人类参考二倍体基因组

Adam C English ,William J Salerno ,Oliver A Hampton ,Claudia Gonzaga-Jauregui ,Shruthi Ambreth ,Deborah I Ritter ,Christine R Beck ,Caleb F Davis ,Mahmoud Dahdouli ,Singer Ma ,Andrew Carroll ,Narayanan Veeraraghavan ,Jeremy Bruestle ,Becky Drees ,Alex Hastie ,Ernest T Lam ,Simon White ,Pamela Mishra ,Min Wang ,Yi Han ,Feng Zhang ,Pawel Stankiewicz ,David A Wheeler ,Jeffrey G Reid ,Donna M Muzny ,Jeffrey Rogers ,Aniko Sabo ,Kim C Worley ,James R Lupski ,Eric Boerwinkle ,Richard A Gibbs

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

SPAST富含Alu序列的基因组结构使其易患多种功能不同的疾病相关CNV等位基因。

Philip M Boone ,Bo Yuan ,Ian M Campbell ,Jennifer C Scull ,Marjorie A Withers ,Brett C Baggett ,Christine R Beck ,Christine J Shaw ,Pawel Stankiewicz ,Paolo Moretti ,Wendy E Goodwin ,Nichole Hein ,John K Fink ,Moon-Woo Seong ,Soo Hyun Seo ,Sung Sup Park ,Izabela D Karbassi ,Sat Dev Batish ,Andrés Ordóñez-Ugalde ,Beatriz Quintáns ,María-Jesús Sobrido ,Susanne Stemmler ,James R Lupski

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

Xp22.31处的拷贝数增加包括复杂的重复重排和反复发生的三重复。

Pengfei Liu ,Ayelet Erez, Sandesh C Sreenath Nagamani, Weimin Bi, Claudia M B Carvalho, Alexandra D Simmons, Joanna Wiszniewska, Ping Fang, Patricia A Eng, M Lance Cooper, V Reid Sutton, Elizabeth R Roeder, John B Bodensteiner, Mauricio R Delgado, Siddharth K Prakash, John W Belmont, Pawel Stankiewicz, Jonathan S Berg, Marwan Shinawi, Ankita Patel, Sau Wai Cheung, James R Lupski

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

利用阵列比较基因组杂交(array CGH)技术检测自闭症家族基因组中外显子拷贝数变异,发现TMLHE基因存在一个新的缺失。

Patricia B S Celestino-Soper ,Chad A Shaw, Stephan J Sanders, Jian Li, Michael T Murtha, A Gulhan Ercan-Sencicek, Lea Davis, Susanne Thomson, Tomasz Gambin, A Craig Chinault, Zhishuo Ou, Jennifer R German, Aleksandar Milosavljevic, James S Sutcliffe, Edwin H Cook Jr, Pawel Stankiewicz, Matthew W State, Arthur L Beaudet

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia

15q25.2 区域的复发性微缺失与先天性膈疝、认知缺陷以及可能的 Diamond-Blackfan 贫血风险增加相关。

Margaret J Wat ,Victoria B Enciso, Wojciech Wiszniewski, Trevor Resnick, Patricia Bader, Elizabeth R Roeder, Debra Freedenberg, Chester Brown, Pawel Stankiewicz, Sau-Wai Cheung, Daryl A Scott

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

复发性16p11.2相互重排与全面发育迟缓、行为问题、畸形、癫痫和头围异常有关

Marwan Shinawi ,Pengfei Liu, Sung-Hae L Kang, Joseph Shen, John W Belmont, Daryl A Scott, Frank J Probst, William J Craigen, Brett H Graham, Amber Pursley, Gary Clark, Jennifer Lee, Monica Proud, Amber Stocco, Diana L Rodriguez, Beth A Kozel, Steven Sparagana, Elizabeth R Roeder, Susan G McGrew, Thaddeus W Kurczynski, Leslie J Allison, Stephen Amato, Sarah Savage, Ankita Patel, Pawel Stankiewicz, Arthur L Beaudet, Sau Wai Cheung, James R Lupski