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

Detection of mosaic and population-level structural variants with Sniffles2

使用 Sniffles2 检测马赛克和群体水平的结构变异

Moritz Smolka #, Luis F Paulin #, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Claudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck3

Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci

通过迭代模板切换形成的倒置三重重复在基因组紊乱位点产生结构变异多样性

Christopher M Grochowski, Jesse D Bengtsson, Haowei Du, Mira Gandhi, Ming Yin Lun, Michele G Mehaffey, KyungHee Park, Wolfram Höps, Eva Benito, Patrick Hasenfeld, Jan O Korbel, Medhat Mahmoud, Luis F Paulin, Shalini N Jhangiani, James Paul Hwang, Sravya V Bhamidipati, Donna M Muzny, Jawid M Fatih, R

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

MECP2 重复综合征中的结构变异等位基因异质性有助于了解临床严重程度和疾病表达的变化

Davut Pehlivan #, Jesse D Bengtsson #, Sameer S Bajikar #, Christopher M Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J Trostle, Holly K Harris, Bernhard Suter, Sukru Aras, Melissa B Ramocki, Haowei Du, Michele G Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper J Eisfeld

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

外核苷酸酶 ENTPD1 的双等位基因变异导致复杂的神经发育障碍,伴有智力障碍、明显的白质异常和痉挛性截瘫

Daniel G Calame #, Isabella Herman #, Reza Maroofian, Aren E Marshall, Karina Carvalho Donis, Jawid M Fatih, Tadahiro Mitani, Haowei Du, Christopher M Grochowski, Sergio B Sousa, Charul Gijavanekar, Somayeh Bakhtiari, Yoko A Ito, Clarissa Rocca, Jill V Hunter, V Reid Sutton, Lisa T Emrick, Kym M Boy

Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism

Xia-Gibbs 综合征中 AHDC1 缺失的长读测序和表达研究揭示了一种新的遗传调控机制

Varuna Chander, Medhat Mahmoud, Jianhong Hu, Zain Dardas, Christopher M Grochowski, Moez Dawood, Michael M Khayat, He Li, Shoudong Li, Shalini Jhangiani, Viktoriya Korchina, Hua Shen, George Weissenberger, Qingchang Meng, Marie-Claude Gingras, Donna M Muzny, Harsha Doddapaneni, Jennifer E Posey, Jam

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

土耳其人群中神经发育障碍多位点致病变异的患病率较高

Tadahiro Mitani ,Sedat Isikay ,Alper Gezdirici ,Elif Yilmaz Gulec ,Jaya Punetha ,Jawid M Fatih ,Isabella Herman ,Gulsen Akay ,Haowei Du ,Daniel G Calame ,Akif Ayaz ,Tulay Tos ,Gozde Yesil ,Hatip Aydin ,Bilgen Geckinli ,Nursel Elcioglu ,Sukru Candan ,Ozlem Sezer ,Haktan Bagis Erdem ,Davut Gul ,Emine Demiral ,Muhsin Elmas ,Osman Yesilbas ,Betul Kilic ,Serdal Gungor ,Ahmet C Ceylan ,Sevcan Bozdogan ,Ozge Ozalp ,Salih Cicek ,Huseyin Aslan ,Sinem Yalcintepe ,Vehap Topcu ,Yavuz Bayram ,Christopher M Grochowski ,Angad Jolly ,Moez Dawood ,Ruizhi Duan ,Shalini N Jhangiani ,Harsha Doddapaneni ,Jianhong Hu ,Donna M Muzny ,Zeynep Coban Akdemir ,Ender Karaca ,Claudia M B Carvalho ,Richard A Gibbs ,Jennifer E Posey ,James R Lupski ,Davut Pehlivan

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

大量疑似患有多种孟德尔遗传疾病的三人组中外显子组存在低水平亲本体细胞嵌合 SNV

Tomasz Gambin #, Qian Liu #, Justyna A Karolak #, Christopher M Grochowski, Nina G Xie, Lucia R Wu, Yan Helen Yan, Ye Cao, Zeynep H Coban Akdemir, Theresa A Wilson, Shalini N Jhangiani, Ed Chen, Christine M Eng, Donna Muzny, Jennifer E Posey, Yaping Yang, David Y Zhang, Chad Shaw, Pengfei Liu, James

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

沃夫-帕金森-怀特综合征:心房颤动相关基因的新生变异和突变负担证据

Zeynep H Coban-Akdemir, Wu-Lin Charng, Mahshid Azamian, Ingrid S Paine, Jaya Punetha, Christopher M Grochowski, Tomasz Gambin, Santiago O Valdes, Bryan Cannon, Gladys Zapata, Patricia P Hernandez, Shalini Jhangiani, Harsha Doddapaneni, Jianhong Hu, Fatima Boricha, Donna M Muzny, Eric Boerwinkle, Yap

Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions

对父母体细胞嵌合体的拷贝数变异 (CNV) 缺失进行定量评估

Qian Liu, Christopher M Grochowski, Weimin Bi, James R Lupski, Paweł Stankiewicz

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

PLP1拷贝数增加的结构变异体中经常观察到复杂的重排模式和微同源突变特征。

Vahid Bahrambeigi,Xiaofei Song,Karen Sperle,Christine R Beck,Hadia Hijazi,Christopher M Grochowski,Shen Gu,Pavel Seeman,Karen J Woodward,Claudia M B Carvalho,Grace M Hobson,James R Lupski