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Kids First Publications

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Cáncer
Desorden congenito
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Cáncer

Neuroblastoma and Glioblastoma Cases With Amplified Oncogenes Have Reduced Numbers of Tumor-Resident Adaptive Immune Receptor Recombinations

Authors
Toriana R Dabkowski 1, Mallika Varkhedi 1, Joanna J Song 1, Etienne C Gozlan 1, ...
PubMedID
38085056
Pub. Date
2023
Desorden congenito

Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes

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

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
Desorden congenito

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

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

Transcriptional immunogenomic analysis reveals distinct immunological clusters in paediatric nervous system tumours

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

Using existing pediatric cancer data from the Gabriella Miller Kids First Data Resource Program

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

Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival

Authors
Jung Kim, Doctor, Zalman Vaksman, Doctor, Laura E Egolf, Doctor, Rebecca Kaufman, EM, J P...
PubMedID
37688579
Pub. Date
2023
Desorden congenito

Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes

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

Genomic landscape of Down syndrome–associated acute lymphoblastic leukemia

Authors
Zhenhua Li, Ti-Cheng Chang, Jacob J Junco, Meenakshi Devidas, Yizhen Li, Wenjian...
PubMedID
37001051
Pub. Date
2023
Desorden congenito

Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes

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

Identification of a novel gene signature for neuroblastoma differentiation using a Boolean implication network

Authors
Peter E Zage, Yuchen Huo, Divya Subramonian, Christophe Le Clorennec, Pradipta G...
PubMedID
36680522
Pub. Date
2023
Desorden congenito

Congenital heart defects caused by FOXJ1

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
Desorden congenito

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
Cáncer

Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma

Authors
35977101...
PubMedID
35977101
Pub. Date
2023
Cáncer

Multi-ancestry genome-wide association study of 4069 children with glioma identifies 9p21. 3 risk locus

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

Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations

Authors
Hanna K Zieger 1, Leonie Weinhold 2, Axel Schmidt 1, Manuel Holtgrewe 3, Stefan ...
PubMedID
36589413
Pub. Date
2023
Desorden congenito

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
Desorden congenito

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
Desorden congenito

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

Authors
Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L Cox, Paul C Le...
PubMedID
36751037
Pub. Date
2023
Desorden congenito

Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts

Authors
Abimbola Oladayo, Lord Jephthah Joojo Gowans, Waheed Awotoye, Azeez Alade, Tamar...
PubMedID
37496383
Pub. Date
2023
Cáncer

Integrative genomic analyses identify lncRNA regulatory networks across pediatric leukemias and solid tumors

Authors
Apexa Modi, Gonzalo Lopez, Karina L Conkrite, Chun Su, Tsz Ching Leung, Sathvik ...
PubMedID
37584517
Pub. Date
2023
Desorden congenito

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
Condición cruzada

Identification of risk variants related to malignant tumors in children with birth defects by whole genome sequencing.

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

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
Desorden congenito

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
Desorden congenito

Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome

Authors
Sarah R Poll, Renan Martin, Elizabeth Wohler, Elizabeth S Partan, Elizabeth Wale...
PubMedID
36480544
Pub. Date
2022
Desorden congenito

Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease

Authors
Sarah J Spendlove, Leroy Bondhus, Gentian Lluri, Jae Hoon Sul, Valerie A Arboled...
PubMedID
35599848
Pub. Date
2022
Desorden congenito

The arginine methyltransferase Carm1 is necessary for heart development

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

Germline predisposition to pediatric Ewing sarcoma is characterized by inherited pathogenic variants in DNA damage repair genes

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

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
Desorden congenito

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
Desorden congenito

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
Cáncer

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
Desorden congenito

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
Cáncer

Systems biology analysis for Ewing sarcoma

Authors
Marianyela Petrizzelli, Jane Merlevede, Andrei Zinovyev...
PubMedID
33326111
Pub. Date
2021
Desorden congenito

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
Condición cruzada

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

Authors
DB Miller, SR Piccolo...
PubMedID
34809557
Pub. Date
2021
Condición cruzada

A survey of compound heterozygous variants in pediatric cancers and structural birth defects

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

Selective modulation of a pan-essential protein as a therapeutic strategy in cancer

Authors
Clare F Malone 1 2 3, Neekesh V Dharia 1 2 3 4, Guillaume Kugener 2, Alexandra B...
PubMedID
33883167
Pub. Date
2021
Desorden congenito

Effective variant filtering and expected candidate variant yield in studies of rare human disease

Authors
Brent S Pedersen 1, Joe M Brown 2, Harriet Dashnow 2, Amelia D Wallace 2, Matt V...
PubMedID
34267211
Pub. Date
2021
Desorden congenito

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
Condición cruzada

A survey of rare epigenetic variation in 23,116 human genomes identifies disease-relevant epivariations and CGG expansions

Authors
Paras Garg 1, Bharati Jadhav 1, Oscar L Rodriguez 1, Nihir Patel 1, Alejandro Ma...
PubMedID
32937144
Pub. Date
2020
Desorden congenito

Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21

Authors
Nandita Mukhopadhyay 1, Madison Bishop 2, Michael Mortillo 3, Pankaj Chopra 2, J...
PubMedID
31848685
Pub. Date
2020
Desorden congenito

Genome-wide enrichment of de novo coding mutations in orofacial cleft trios

Authors
Madison R Bishop 1, Kimberly K Diaz Perez 1, Miranda Sun 2, Samantha Ho 1, Panka...
PubMedID
32574564
Pub. Date
2020
Desorden congenito

Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes

Authors
Lu Qiao # 1 2, Julia Wynn # 1, Lan Yu 1, Rebecca Hernan 1, Xueya Zhou 1 2, Vince...
PubMedID
32719394
Pub. Date
2020
Desorden congenito

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
Desorden congenito

Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias

Authors
Eric L Bogenschutz 1, Zac D Fox 1, Andrew Farrell 1 2, Julia Wynn 3, Barry Moore...
PubMedID
33263113
Pub. Date
2020
Desorden congenito

Elucidation of de novo small insertion/deletion biology with parent‐of‐origin phasing

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

Germline 16p11. 2 microdeletion predisposes to neuroblastoma

Authors
Laura E Egolf 1, Zalman Vaksman 2, Gonzalo Lopez 2, Jo Lynne Rokita 2, Apexa Mod...
PubMedID
31474320
Pub. Date
2019
Desorden congenito

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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