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癌症

癌基因扩增的神经母细胞瘤和胶质母细胞瘤病例减少了肿瘤驻留适应性免疫受体重组的数量

Authors
Toriana R Dabkowski 1, Mallika Varkhedi 1, Joanna J Song 1, Etienne C Gozlan 1, ...
PubMedID
38085056
Pub. Date
2023
先天性疾病

罕见变异修饰符分析识别了 SEC24D 中与口面部裂亚型相关的变异

Authors
Sarah W Curtis 1, Jenna C Carlson 2 3, Terri H Beaty 4, Jeffrey C Murray 5, Seth...
PubMedID
37676273
Pub. Date
2023
先天性疾病

Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape

Authors
Seppe Goovaerts 1 2, Hanne Hoskens 3 4, Ryan J Eller 5, Noah Herrick 5, Anthony ...
PubMedID
37973980
Pub. Date
2023
先天性疾病

影响肌动蛋白结合域的 PLS3 错义变异导致 X 连锁先天性膈疝和体壁缺陷

Authors
Florence Petit 1, Mauro Longoni 2, Julie Wells 3, Richard S Maser 3, Eric L Boge...
PubMedID
37751738
Pub. Date
2023
癌症

转录免疫基因组分析揭示了儿科神经系统肿瘤的独特免疫簇

Authors
Arash Nabbi # 1, Pengbo Beck # 2 3, Alberto Delaidelli 4 5, Derek A Oldridge 6 7...
PubMedID
37679810
Pub. Date
2023
癌症

使用来自 Gabriella Miller Kids First 数据资源计划的现有儿科癌症数据

Authors
Alexandra Hudson 1, Marcia Fournier 2, James Coulombe 2, Danielle Daee 3...
PubMedID
37788089
Pub. Date
2023
癌症

神经母细胞瘤患者的种系致病变异在 BARD1 中富集并预测较差的生存率

Authors
Jung Kim, 博士, Zalman Vaksman, 博士, Laura E Egolf, 博士, Rebecca Kaufman, 多发性硬化症, J P...
PubMedID
37688579
Pub. Date
2023
先天性疾病

罕见变异修饰符分析识别了 SEC24D 中与口面部裂亚型相关的变异

Authors
Sarah W Curtis, Jenna C Carlson, Terri H Beaty, Jeffrey C Murray, Seth M Weinber...
PubMedID
37676273
Pub. Date
2023
癌症

唐氏综合症相关急性淋巴细胞白血病的基因组景观

Authors
Zhenhua Li, Ti-Cheng Chang, Jacob J Junco, Meenakshi Devidas, Yizhen Li, Wenjian...
PubMedID
37001051
Pub. Date
2023
先天性疾病

人类颅面发育过程中转录组动态的综合分析确定了候选疾病基因

Authors
Tara N Yankee, Sungryong Oh, Emma Wentworth Winchester, Andrea Wilderman, Kelsey...
PubMedID
37532691
Pub. Date
2023
癌症

使用布尔蕴涵网络鉴定神经母细胞瘤分化的新基因特征

Authors
Peter E Zage, Yuchen Huo, Divya Subramonian, Christophe Le Clorennec, Pradipta G...
PubMedID
36680522
Pub. Date
2023
先天性疾病

FOXJ1引起的先天性心脏缺陷

Authors
Maria B Padua 1, Benjamin M Helm 2 3, John R Wells 2, Amanda M Smith 1, Helen M ...
PubMedID
37158461
Pub. Date
2023
先天性疾病

Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting

Authors
Kimberly K Diaz Perez 1, Sarah W Curtis 1, Alba Sanchis-Juan 2, Xuefang Zhao 2, ...
PubMedID
37330696
Pub. Date
2023
癌症

家族性霍奇金淋巴瘤中新的易感编码和非编码变异的发现

Authors
35977101...
PubMedID
35977101
Pub. Date
2023
癌症

多祖先全基因组关联研究 4069 患有神经胶质瘤的儿童可识别 9p21. 3 风险位点

Authors
Jon Foss-Skiftesvik 1 2 3, Shaobo Li 4, Adam Rosenbaum 5, Christian Munch Hagen ...
PubMedID
36810956
Pub. Date
2023
先天性疾病

通过全基因组从头突变分析,优先考虑伴有/不伴有腭裂的非综合征性唇裂所涉及的非编码元件

Authors
Hanna K Zieger 1, Leonie Weinhold 2, Axel Schmidt 1, Manuel Holtgrewe 3, Stefan ...
PubMedID
36589413
Pub. Date
2023
先天性疾病

Damaging variants in FOXI3 cause microtia and craniofacial microsomia

Authors
Daniel Quiat 1, Andrew T Timberlake 2, Justin J Curran 3, Michael L Cunningham 4...
PubMedID
36260083
Pub. Date
2023
先天性疾病

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Authors
Alan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, Wai-Man Chan, Elke de Bo...
PubMedID
37386251
Pub. Date
2023
先天性疾病

AMOTL1 的突变热点定义了一种新的口颌面裂综合征, 心脏异常, 和高大的身材

Authors
Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L Cox, Paul C Le...
PubMedID
36751037
Pub. Date
2023
先天性疾病

临床上可操作的次要发现 130 来自撒哈拉以南非洲家庭的非综合征性口颌裂三合会

Authors
阿宾博拉·奥拉达约, Lord Jephthah Joojo Gowans, Waheed Awotoye, 阿齐兹·阿拉德, Tamar...
PubMedID
37496383
Pub. Date
2023
癌症

整合基因组分析确定儿童白血病和实体瘤的 lncRNA 调控网络

Authors
Apexa Modi, Gonzalo Lopez, Karina L Conkrite, Chun Su, Tsz Ching Leung, Sathvik ...
PubMedID
37584517
Pub. Date
2023
先天性疾病

Genome-wide evaluation of the effect of short tandem repeat variation on local DNA methylation

Authors
Alejandro Martin-Trujillo, Paras Garg, Nihir Patel, Bharati Jadhav, Andrew J Sha...
PubMedID
36577521
Pub. Date
2023
交叉条件

全基因组测序鉴定出生缺陷儿童恶性肿瘤相关风险变异.

Authors
Yichuan Liu, Hui-Qi Qu, Xiao Chang, Frank D Mentch, Haijun Qiu, Kenny Nguyen, Xi...
PubMedID
36384586
Pub. Date
2022
癌症

Cytosine base editing enables quadruple-edited allogeneic CART cells for T-ALL.

Authors
Caroline Diorio Ryan Murray, Mark Naniong, Luis Barrera, Adam Camblin, John Chu...
PubMedID
35560156
Pub. Date
2022
先天性疾病

Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate

Authors
Waheed Awotoye, Peter A Mossey, Jacqueline B Hetmanski, Lord J J Gowans, Mekonen...
PubMedID
35817949
Pub. Date
2022
先天性疾病

Ollier 病和 Maffucci 综合征患者 HIF-1 通路的破坏

Authors
Sarah R Poll, 雷南·马丁, Elizabeth Wohler, Elizabeth S Partan, Elizabeth Wale...
PubMedID
36480544
Pub. Date
2022
先天性疾病

内表型的多基因风险评分确定遗传背景对先天性心脏病的影响

Authors
Sarah J Spendlove, Leroy Bondhus, Gentian Lluri, Jae Hoon Sul, Valerie A Arboled...
PubMedID
35599848
Pub. Date
2022
先天性疾病

精氨酸甲基转移酶 Carm1 对于心脏发育是必需的

Authors
Sophie Jamet, Seungshin Ha, Tzu-Hua Ho, Scott Houghtaling, Andrew Timms, Kai Yu,...
PubMedID
35736367
Pub. Date
2022
癌症

儿童尤文肉瘤的种系易感性以 DNA 损伤修复基因的遗传性致病变异为特征

Authors
Riaz Gillani, Sabrina Y Camp, Seunghun Ha, Jill K Jones, Hoyin Chu, Schuyler O'B...
PubMedID
35512711
Pub. Date
2022
先天性疾病

Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk

Authors
Jon A L Willcox 1, Joshua T Geiger 2, Sarah U Morton 3, David McKean 1, Daniel Q...
PubMedID
35397206
Pub. Date
2022
先天性疾病

Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas

Authors
Guojie Zhong 1 2, Priyanka Ahimaz 3, Nicole A Edwards 4, Jacob J Hagen 1 3, Chri...
PubMedID
35519826
Pub. Date
2022
先天性疾病

An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations

Authors
Daniel Quiat 1 2 3, Seong Won Kim 3, Qi Zhang 3, Sarah U Morton 2 3 4, Alexandre...
PubMedID
35584116
Pub. Date
2022
癌症

Immunogenomic determinants of tumor microenvironment correlate with superior survival in high-risk neuroblastoma

Authors
Riyue Bao 1 2, Stefani Spranger 3 4, Kyle Hernandez 5 6, Yuanyuan Zha 6, Peter P...
PubMedID
34272305
Pub. Date
2021
先天性疾病

Pervasive cis effects of variation in copy number of large tandem repeats on local DNA methylation and gene expression

Authors
Paras Garg 1, Alejandro Martin-Trujillo 1, Oscar L Rodriguez 1, Scott J Gies 1, ...
PubMedID
33794196
Pub. Date
2021
癌症

尤文肉瘤的系统生物学分析

Authors
Marianyela Petrizzelli, Jane Merlevede, Andrei Zinovyev...
PubMedID
33326111
Pub. Date
2021
先天性疾病

Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene

Authors
Lu Qiao 1, Le Xu 2, Lan Yu 3, Julia Wynn 3, Rebecca Hernan 3, Xueya Zhou 1, Chri...
PubMedID
34547244
Pub. Date
2021
交叉条件

trioPhaser: using Mendelian inheritance logic to improve genomic phasing of trios

Authors
DB Miller, SR Piccolo...
PubMedID
34809557
Pub. Date
2021
交叉条件

儿科癌症和结构性出生缺陷复合杂合变异的调查

Authors
Dustin B Miller, Stephen R Piccolo...
PubMedID
33828584
Pub. Date
2021
癌症

选择性调节泛必需蛋白作为癌症治疗策略

Authors
Clare F Malone 1 2 3, Neekesh V Dharia 1 2 3 4, Guillaume Kugener 2, Alexandra B...
PubMedID
33883167
Pub. Date
2021
先天性疾病

人类罕见疾病研究中的有效变异过滤和预期候选变异产量

Authors
Brent S Pedersen 1, Joe M Brown 2, Harriet Dashnow 2, Amelia D Wallace 2, Matt V...
PubMedID
34267211
Pub. Date
2021
先天性疾病

Haploinsufficiency of SF3B2 causes craniofacial microsomia

Authors
Andrew T Timberlake 1, Casey Griffin 2, Carrie L Heike 3 4, Anne V Hing 3 4, Mic...
PubMedID
34344887
Pub. Date
2021
交叉条件

罕见表观遗传变异的调查 23,116 人类基因组识别与疾病相关的表观变异和 CGG 扩展

Authors
Paras Garg 1, Bharati Jadhav 1, Oscar L Rodriguez 1, Nihir Patel 1, Alejandro Ma...
PubMedID
32937144
Pub. Date
2020
先天性疾病

加布里埃拉·米勒儿童第一儿科研究联盟对口面裂三人组进行全基因组测序,确定了染色体上的一个新基因座 21

Authors
Nandita Mukhopadhyay 1, Madison Bishop 2, Michael Mortillo 3, Pankaj Chopra 2, J...
PubMedID
31848685
Pub. Date
2020
先天性疾病

口面裂三人组中从头编码突变的全基因组富集

Authors
Madison R Bishop 1, Kimberly K Diaz Perez 1, Miranda Sun 2, Samantha Ho 1, Panka...
PubMedID
32574564
Pub. Date
2020
先天性疾病

先天性膈疝患者可能具有破坏性的新发变异与较差的临床结果相关

Authors
Lu Qiao # 1 2, Julia Wynn # 1, Lan Yu 1, Rebecca Hernan 1, Xueya Zhou 1 2, Vince...
PubMedID
32719394
Pub. Date
2020
先天性疾病

Genomic analyses implicate noncoding de novo variants in congenital heart disease

Authors
Felix Richter # 1, Sarah U Morton # 2 3, Seong Won Kim # 4, Alexander Kitaygorod...
PubMedID
32601476
Pub. Date
2020
先天性疾病

对多个先证者组织和父母血液的深度全基因组测序揭示了先天性膈疝的复杂遗传病因

Authors
Eric L Bogenschutz 1, Zac D Fox 1, Andrew Farrell 1 2, Julia Wynn 3, Barry Moore...
PubMedID
33263113
Pub. Date
2020
先天性疾病

利用亲本定相阐明从头小插入/缺失生物学

Authors
Allison H Seiden 1, Felix Richter 2, Nihir Patel 1, Oscar L Rodriguez 1 2 3, Gin...
PubMedID
31898844
Pub. Date
2020
癌症

种系 16p11. 2 微缺失易患神经母细胞瘤

Authors
Laura E Egolf 1, Zalman Vaksman 2, Gonzalo Lopez 2, Jo Lynne Rokita 2, Apexa Mod...
PubMedID
31474320
Pub. Date
2019
先天性疾病

ORE identifies extreme expression effects enriched for rare variants

Authors
F Richter 1, G E Hoffman 2 3, K B Manheimer 4, N Patel 5, A J Sharp 3 5, D McKea...
PubMedID
30903145
Pub. Date
2019
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