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

A Phenotypic Paradigm for Cerebral Palsy Genetics

脑瘫遗传学的表型范式

Arterbery, Adam S; Gargano, Michael A; Bagley, Anita; Sundaramurthi, Jagadish Chandrabose; Rekerle, Lauren; Ordaz-Robles, Thania; Danis, Daniel; Graefe, Adam Sl; Arenas-Díaz, Ana L; Bauer, Jeremy P; Blau, Hannah; Carmody, Leigh; Carroll, Kristen L; Davis, Janice; Giampietro, Philip F; Gustafson, Anxhela Gjyshi; Hernandez, Monserat; Jacobsen, Julius Ob; Lemhouse, Paige; Millet, David; Mukherjee, Shubhra; Nairne, Patrick; Nice, Emily; Plotkin, Talia; Powell, Kenneth; Raney, Ellen M; Shingle, Mallory; Smedley, Damian; Smith, Peter A; Soliman, Demiana A; Westberry, David E; Davids, Jon R; Robinson, Peter N

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library

对5412名罕见病患者进行基于血液的RNA测序,在国家基因组研究图书馆中发现了新的候选诊断。

Lord, Jenny; Pagnamenta, Alistair T; Vestito, Letizia; Walker, Susan; Oquendo, Carolina Jaramillo; McGuigan, Anthony Ef; Ho, Alexander; Odhams, Christopher; Jacobsen, Julius Ob; Mehta, Sarju; Reid, Evan; O'Driscoll, Mary; Watson, Christopher M; Crinnion, Laura A; Robinson, Rachel L; Musgrave, Hannah; Martin, Richard J; James, Terena P; Ross, Mark T; Kyritsi, Marianna; Carnielli, Leonardo; Walker, Nicholas; Vucenovic, Dunja; Maheswari, Uma; Baralle, Francisco E; Taylor, Jenny C; Ellingford, Jamie M; Kasperaviciute, Dalia; Hoa, Lily; Elgar, Greg; Brown, Matthew A; Smedley, Damian; Baralle, Diana