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

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

人类表型本体论项目:通过表型数据连接分子生物学和疾病

Köhler, Sebastian; Doelken, Sandra C; Mungall, Christopher J; Bauer, Sebastian; Firth, Helen V; Bailleul-Forestier, Isabelle; Black, Graeme C M; Brown, Danielle L; Brudno, Michael; Campbell, Jennifer; FitzPatrick, David R; Eppig, Janan T; Jackson, Andrew P; Freson, Kathleen; Girdea, Marta; Helbig, Ingo; Hurst, Jane A; Jähn, Johanna; Jackson, Laird G; Kelly, Anne M; Ledbetter, David H; Mansour, Sahar; Martin, Christa L; Moss, Celia; Mumford, Andrew; Ouwehand, Willem H; Park, Soo-Mi; Riggs, Erin Rooney; Scott, Richard H; Sisodiya, Sanjay; Van Vooren, Steven; Wapner, Ronald J; Wilkie, Andrew O M; Wright, Caroline F; Vulto-van Silfhout, Anneke T; de Leeuw, Nicole; de Vries, Bert B A; Washingthon, Nicole L; Smith, Cynthia L; Westerfield, Monte; Schofield, Paul; Ruef, Barbara J; Gkoutos, Georgios V; Haendel, Melissa; Smedley, Damian; Lewis, Suzanna E; Robinson, Peter N

Clinical interpretation of CNVs with cross-species phenotype data

利用跨物种表型数据对CNV进行临床解读

Köhler, Sebastian; Schoeneberg, Uwe; Czeschik, Johanna Christina; Doelken, Sandra C; Hehir-Kwa, Jayne Y; Ibn-Salem, Jonas; Mungall, Christopher J; Smedley, Damian; Haendel, Melissa A; Robinson, Peter N

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

DYNC1I1基因座上具有调控活性的外显子缺失与裂手/裂足畸形相关:对134个无关家族进行阵列CGH筛查

Tayebi, Naeimeh; Jamsheer, Aleksander; Flöttmann, Ricarda; Sowinska-Seidler, Anna; Doelken, Sandra C; Oehl-Jaschkowitz, Barbara; Hülsemann, Wiebke; Habenicht, Rolf; Klopocki, Eva; Mundlos, Stefan; Spielmann, Malte

Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.

与肢体畸形相关的 HOXD13 突变的基因组结合谱发生了明显的全球性变化

Ibrahim Daniel M, Hansen Peter, Rödelsperger Christian, Stiege Asita C, Doelken Sandra C, Horn Denise, Jäger Marten, Janetzki Catrin, Krawitz Peter, Leschik Gundula, Wagner Florian, Scheuer Till, Schmidt-von Kegler Mareen, Seemann Petra, Timmermann Bernd, Robinson Peter N, Mundlos Stefan, Hecht Jochen

Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project

为人类表型组计划做准备:2012 年人类变异组计划论坛

Oetting, William S; Robinson, Peter N; Greenblatt, Marc S; Cotton, Richard G; Beck, Tim; Carey, John C; Doelken, Sandra C; Girdea, Marta; Groza, Tudor; Hamilton, Carol M; Hamosh, Ada; Kerner, Berit; MacArthur, Jacqueline A L; Maglott, Donna R; Mons, Barend; Rehm, Heidi L; Schofield, Paul N; Searle, Beverly A; Smedley, Damian; Smith, Cynthia L; Bernstein, Inge Thomsen; Zankl, Andreas; Zhao, Eric Y

GREMLIN2 and atrial fibrillation

GREMLIN2 与心房颤动

Doelken, Sandra C; Köhler, Sebastian; Mungall, Christopher J; Gkoutos, Georgios V; Ruef, Barbara J; Smith, Cynthia; Smedley, Damian; Bauer, Sebastian; Klopocki, Eva; Schofield, Paul N; Westerfield, Monte; Robinson, Peter N; Lewis, Suzanna E

Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research

构建和提供跨物种表型本体及其基因注释以用于生物医学研究

Köhler, Sebastian; Doelken, Sandra C; Ruef, Barbara J; Bauer, Sebastian; Washington, Nicole; Westerfield, Monte; Gkoutos, George; Schofield, Paul; Smedley, Damian; Lewis, Suzanna E; Robinson, Peter N; Mungall, Christopher J

MouseFinder: Candidate disease genes from mouse phenotype data

MouseFinder:基于小鼠表型数据的候选疾病基因

Chen, Chao-Kung; Mungall, Christopher J; Gkoutos, Georgios V; Doelken, Sandra C; Köhler, Sebastian; Ruef, Barbara J; Smith, Cynthia; Westerfield, Monte; Robinson, Peter N; Lewis, Suzanna E; Schofield, Paul N; Smedley, Damian

Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.

对所谓 NOGGIN 突变 G92E 的功能分析否定了其致病相关性

Zimmer Julia, Doelken Sandra C, Horn Denise, Groppe Jay C, Shore Eileen M, Kaplan Frederick S, Seemann Petra