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

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

HDAC8功能缺失突变会导致一系列表型,包括类似科内莉亚·德·兰格综合征的特征、眼距过宽、囟门增大以及X连锁遗传。

Kaiser, Frank J; Ansari, Morad; Braunholz, Diana; Concepción Gil-Rodríguez, María; Decroos, Christophe; Wilde, Jonathan J; Fincher, Christopher T; Kaur, Maninder; Bando, Masashige; Amor, David J; Atwal, Paldeep S; Bahlo, Melanie; Bowman, Christine M; Bradley, Jacquelyn J; Brunner, Han G; Clark, Dinah; Del Campo, Miguel; Di Donato, Nataliya; Diakumis, Peter; Dubbs, Holly; Dyment, David A; Eckhold, Juliane; Ernst, Sarah; Ferreira, Jose C; Francey, Lauren J; Gehlken, Ulrike; Guillén-Navarro, Encarna; Gyftodimou, Yolanda; Hall, Bryan D; Hennekam, Raoul; Hudgins, Louanne; Hullings, Melanie; Hunter, Jennifer M; Yntema, Helger; Innes, A Micheil; Kline, Antonie D; Krumina, Zita; Lee, Hane; Leppig, Kathleen; Lynch, Sally Ann; Mallozzi, Mark B; Mannini, Linda; McKee, Shane; Mehta, Sarju G; Micule, Ieva; Mohammed, Shehla; Moran, Ellen; Mortier, Geert R; Moser, Joe-Ann S; Noon, Sarah E; Nozaki, Naohito; Nunes, Luis; Pappas, John G; Penney, Lynette S; Pérez-Aytés, Antonio; Petersen, Michael B; Puisac, Beatriz; Revencu, Nicole; Roeder, Elizabeth; Saitta, Sulagna; Scheuerle, Angela E; Schindeler, Karen L; Siu, Victoria M; Stark, Zornitza; Strom, Samuel P; Thiese, Heidi; Vater, Inga; Willems, Patrick; Williamson, Kathleen; Wilson, Louise C; Hakonarson, Hakon; Quintero-Rivera, Fabiola; Wierzba, Jolanta; Musio, Antonio; Gillessen-Kaesbach, Gabriele; Ramos, Feliciano J; Jackson, Laird G; Shirahige, Katsuhiko; Pié, Juan; Christianson, David W; Krantz, Ian D; Fitzpatrick, David R; Deardorff, Matthew A

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation

科内莉亚·德·兰格综合征中的NIPBL重排:复制机制和基因型-表型相关性的证据

Pehlivan, Davut; Hullings, Melanie; Carvalho, Claudia M B; Gonzaga-Jauregui, Claudia G; Loy, Elizabeth; Jackson, Laird G; Krantz, Ian D; Deardorff, Matthew A; Lupski, James R

The incidence of thrombocytopenia in children with Cornelia de Lange syndrome

科内莉亚·德·兰格综合征患儿血小板减少症的发生率

Lambert, Michele P; Jackson, Laird G; Clark, Dinah; Kaur, Mani; Krantz, Ian D; Deardorff, Matthew A

Prenatal diagnosis of fetal aneuploidies: post-genomic developments

胎儿非整倍体的产前诊断:基因组学之后的发展

Hahn, Sinuhe; Jackson, Laird G; Zimmermann, Bernhard G

Transcriptional dysregulation in NIPBL and cohesin mutant human cells

NIPBL 和黏连蛋白突变人类细胞中的转录失调

Jinglan Liu, Zhe Zhang, Masashige Bando, Takehiko Itoh, Matthew A Deardorff, Dinah Clark, Maninder Kaur, Stephany Tandy, Tatsuro Kondoh, Eric Rappaport, Nancy B Spinner, Hugo Vega, Laird G Jackson, Katsuhiko Shirahige, Ian D Krantz

SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome

X连锁Cornelia de Lange综合征患儿SMC1A的表达及致病机制

Jinglan Liu, Rachel Feldman, Zhe Zhang, Matthew A Deardorff, Eden V Haverfield, Maninder Kaur, Jennifer R Li, Dinah Clark, Antonie D Kline, Darrel J Waggoner, Soma Das, Laird G Jackson, Ian D Krantz

The DNA sequence and analysis of human chromosome 13

人类13号染色体的DNA序列及分析

Dunham, A; Matthews, L H; Burton, J; Ashurst, J L; Howe, K L; Ashcroft, K J; Beare, D M; Burford, D C; Hunt, S E; Griffiths-Jones, S; Jones, M C; Keenan, S J; Oliver, K; Scott, C E; Ainscough, R; Almeida, J P; Ambrose, K D; Andrews, D T; Ashwell, R I S; Babbage, A K; Bagguley, C L; Bailey, J; Bannerjee, R; Barlow, K F; Bates, K; Beasley, H; Bird, C P; Bray-Allen, S; Brown, A J; Brown, J Y; Burrill, W; Carder, C; Carter, N P; Chapman, J C; Clamp, M E; Clark, S Y; Clarke, G; Clee, C M; Clegg, S C M; Cobley, V; Collins, J E; Corby, N; Coville, G J; Deloukas, P; Dhami, P; Dunham, I; Dunn, M; Earthrowl, M E; Ellington, A G; Faulkner, L; Frankish, A G; Frankland, J; French, L; Garner, P; Garnett, J; Gilbert, J G R; Gilson, C J; Ghori, J; Grafham, D V; Gribble, S M; Griffiths, C; Hall, R E; Hammond, S; Harley, J L; Hart, E A; Heath, P D; Howden, P J; Huckle, E J; Hunt, P J; Hunt, A R; Johnson, C; Johnson, D; Kay, M; Kimberley, A M; King, A; Laird, G K; Langford, C J; Lawlor, S; Leongamornlert, D A; Lloyd, D M; Lloyd, C; Loveland, J E; Lovell, J; Martin, S; Mashreghi-Mohammadi, M; McLaren, S J; McMurray, A; Milne, S; Moore, M J F; Nickerson, T; Palmer, S A; Pearce, A V; Peck, A I; Pelan, S; Phillimore, B; Porter, K M; Rice, C M; Searle, S; Sehra, H K; Shownkeen, R; Skuce, C D; Smith, M; Steward, C A; Sycamore, N; Tester, J; Thomas, D W; Tracey, A; Tromans, A; Tubby, B; Wall, M; Wallis, J M; West, A P; Whitehead, S L; Willey, D L; Wilming, L; Wray, P W; Wright, M W; Young, L; Coulson, A; Durbin, R; Hubbard, T; Sulston, J E; Beck, S; Bentley, D R; Rogers, J; Ross, M T

Extreme repeated mating as a counter-adaptation to sexual conflict?

极端的重复交配是应对性冲突的一种反适应机制吗?

Laird, G; Gwynne, D T; Andrade, M C B

Agarose soy casein digest medium for replacement of blood agar for potency determinations of live Pasteurella vaccines

琼脂糖大豆酪蛋白消化培养基可替代血琼脂用于活巴氏杆菌疫苗效力测定

Rebers, P A; Christianson, G G; Laird, G A; Symanowski, J