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

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

利用基因组测序扩大新生儿筛查范围,以便及早发现可干预的疾病

Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise M; Suchy, Sharon F; Begtrup, Amber; Langley, Katherine G; Hernan, Rebecca; Amendola, Laura M; Boyd, Brenna M; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian L; Coffey, Alison J; Devaney, Joseph M; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsay L; Gyimah, Awura; Hahn, Sihoun; Hofherr, Sean; Hruska, Kathleen S; Hu, Zhanzhi; Jeanne, Médéric; Jin, Guanjun; Johnson, D Aaron; Kavus, Haluk; Leibel, Rudolph L; Lobritto, Steven J; McGee, Stephen; Milner, Joshua D; McWalter, Kirsty; Monaghan, Kristin G; Orange, Jordan S; Pimentel Soler, Nicole; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shah, Ankur; Shapiro, Natasha; Sicko, Robert J; Silver, Eric S; Strom, Samuel; Torene, Rebecca I; Williams, Olatundun; Ustach, Vincent D; Wynn, Julia; Taft, Ryan J; Kruszka, Paul; Caggana, Michele; Chung, Wendy K

Employment status among cancer survivors in a Late Effects Clinic in Denmark

丹麦癌症晚期效应诊所癌症幸存者的就业状况

Skovgaards, Annette Sicko; Mattsson, Thea Otto; Tolstrup, Lærke Kjær

Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits

SEM1-DLX5-DLX6 (7q21.3) 基因座中的调控元件参与冠状非综合征性颅缝早闭和骨密度相关性状的遗传控制。

Nicoletti, Paola; Zafer, Samreen; Matok, Lital; Irron, Inbar; Patrick, Meidva; Haklai, Rotem; Evangelista, John Erol; Marino, Giacomo B; Ma'ayan, Avi; Sewda, Anshuman; Holmes, Greg; Britton, Sierra R; Lee, Won Jun; Wu, Meng; Ru, Ying; Arnaud, Eric; Botto, Lorenzo; Brody, Lawrence C; Byren, Jo C; Caggana, Michele; Carmichael, Suzan L; Cilliers, Deirdre; Conway, Kristin; Crawford, Karen; Cuellar, Araceli; Di Rocco, Federico; Engel, Michael; Fearon, Jeffrey; Feldkamp, Marcia L; Finnell, Richard; Fisher, Sarah; Freudlsperger, Christian; Garcia-Fructuoso, Gemma; Hagge, Rhinda; Heuzé, Yann; Harshbarger, Raymond J; Hobbs, Charlotte; Howley, Meredith; Jenkins, Mary M; Johnson, David; Justice, Cristina M; Kane, Alex; Kay, Denise; Gosain, Arun Kumar; Langlois, Peter; Legal-Mallet, Laurence; Lin, Angela E; Mills, James L; Morton, Jenny E V; Noons, Peter; Olshan, Andrew; Persing, John; Phipps, Julie M; Redett, Richard; Reefhuis, Jennita; Rizk, Elias; Samson, Thomas D; Shaw, Gary M; Sicko, Robert; Smith, Nataliya; Staffenberg, David; Stoler, Joan; Sweeney, Elizabeth; Taub, Peter J; Timberlake, Andrew T; Topczewska, Jolanta; Wall, Steven A; Wilson, Alexander F; Wilson, Louise C; Boyadjiev, Simeon A; Wilkie, Andrew O M; Richtsmeier, Joan T; Jabs, Ethylin Wang; Romitti, Paul A; Karasik, David; Birnbaum, Ramon Y; Peter, Inga

Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls

RPPH1 实时定量 PCR 对照检测结合位点中的稀有变异导致拷贝数调用错误

Robert J Sicko, Paul A Romitti, Marilyn L Browne, Lawrence C Brody, Colleen F Stevens, James L Mills, Michele Caggana, Denise M Kay

Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening

囊性纤维化新生儿筛查定制化二代测序检测方法的验证

Sicko, Robert J; Stevens, Colleen F; Hughes, Erin E; Leisner, Melissa; Ling, Helen; Saavedra-Matiz, Carlos A; Caggana, Michele; Kay, Denise M

Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children

膀胱外翻患儿-父母三人组的外显子组测序:26 名儿童的发现

Georgia Pitsava, Marcia L Feldkamp, Nathan Pankratz, John Lane, Denise M Kay, Kristin M Conway, Gary M Shaw, Jennita Reefhuis, Mary M Jenkins, Lynn M Almli, Andrew F Olshan, Faith Pangilinan, Lawrence C Brody, Robert J Sicko, Charlotte A Hobbs, Mike Bamshad, Daniel McGoldrick, Deborah A Nickerson, R

Copy-number variants and candidate gene mutations in isolated split hand/foot malformation

孤立性裂手/裂足畸形中的拷贝数变异和候选基因突变

Carter, Tonia C; Sicko, Robert J; Kay, Denise M; Browne, Marilyn L; Romitti, Paul A; Edmunds, Zoё L; Liu, Aiyi; Fan, Ruzong; Druschel, Charlotte M; Caggana, Michele; Brody, Lawrence C; Mills, James L

Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome

一项基于人群的低发育性右心综合征研究中的罕见拷贝数变异

Dimopoulos, Aggeliki; Sicko, Robert J; Kay, Denise M; Rigler, Shannon L; Druschel, Charlotte M; Caggana, Michele; Browne, Marilyn L; Fan, Ruzong; Romitti, Paul A; Brody, Lawrence C; Mills, James L

Rare copy number variants implicated in posterior urethral valves

罕见拷贝数变异与后尿道瓣膜有关

Boghossian, Nansi S; Sicko, Robert J; Kay, Denise M; Rigler, Shannon L; Caggana, Michele; Tsai, Michael Y; Yeung, Edwina H; Pankratz, Nathan; Cole, Benjamin R; Druschel, Charlotte M; Romitti, Paul A; Browne, Marilyn L; Fan, Ruzong; Liu, Aiyi; Brody, Lawrence C; Mills, James L

Novel copy-number variants in a population-based investigation of classic heterotaxy

基于人群的经典异位症研究中发现的新型拷贝数变异

Rigler, Shannon L; Kay, Denise M; Sicko, Robert J; Fan, Ruzong; Liu, Aiyi; Caggana, Michele; Browne, Marilyn L; Druschel, Charlotte M; Romitti, Paul A; Brody, Lawrence C; Mills, James L