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X01 Projects

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2023 X01 Projects for the Gabriella Miller Kids First Program
Contact PI NameInstitution NameTitleAnticipated Number of Samples
Joseph G GleesonUniversity of California, San DiegoWhole Genome Sequencing in Structural Defects of the Neural Tube1200
Andrew L HongEmory UniversityBasis of Childhood Kidney Cancers and Birth Defects1353
Eric Chien-Wei LiaoChildren's Hospital of PennsylvaniaGenomic, somatic, transcriptional and epigenetic profiling of non-syndromic and syndromic craniosynostosis576
Soheil MeshinchiFred Hutchinson Cancer Research CenterLong-Read Sequencing of childhood AML, DS-AML, and TAM820
Simone Sanna-CherchiColumbia University Health SciencesLarge-scale Sequencing Studies in Congenital Anomalies of the Kidney and Urinary Tract (X01 HD114139-01)1260
John R ShafferUniversity of Pittsburgh at PittsburghEpigenomics of Orofacial Clefts (X01 HD114124-01)1465
David TeacheyChildren's Hosp Of PhiladelphiaSomatic and Germline Variants in Childhood T-cell acute lymphoblastic leukemia1185
*Sequencing of this project is supported by the NIH Childhood Cancer Data initiative and and the data will be shared through the NCI Cancer Data Service
2022 X01 Projects for the Gabriella Miller Kids First Program
Contact PI NameInstitution NameTitleAnticipated Number of Samples
Aravinda ChakravartiNew York University School of Medicine The genomic architecture of Hirschsprung Disease2,137
Wendy Chung Columbia University Health SciencesGenomic Analysis of Esophageal Atresia and Tracheoesophageal Fistulas and Associated Congenital Anoma300
Joaquin Espinosa*University of Colorado DenverEpigenome analysis in the Human Trisome Project1,187
Joseph GleesonUniversity of California, San DiegoWhole Genome Sequencing in Structural Defects of the Neural Tube600
Ingo HelbigChildren's Hospital Of PhiladelphiaThe Genetic Basis of Structural Pediatric Epilepsies2,350
Mary Marazita University of PittsburghKids First: Genomics of Isolated Cleft Lip2, 070

Jonathan Rios
University of Texas Southwestern Medical CenterGMKF Project on Congenital Clubfoot407
*Sequencing of this project is supported by the Investigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project
2021 X01 Projects for the Gabriella Miller Kids First Program
Contact PI NameInstitution NameTitleAnticipated Number of Samples
Jannine De Mars CodyUniversity Of Texas Heath Science CenterThe Genomic Basis Of Structural Birth Defects Associated With Chromosome 18 Copy Number Changes150
Sharon DiskinChildren's Hosp Of PhiladelphiaThe Genetic Basis Of Treatment Outcomes And Late Effects After High-Risk Neuroblastoma1475
Bruce GelbIcahn School Of Medicine At Mount SinaiExpanding Our Understanding Of The Role Of Noncoding Variation Causing Congenital Heart Defects1500
Ian KrantzChildren's Hosp Of PhiladelphiaRnaseq In Cornelia De Lange Syndrome, Related Diagnoses And Structural Birth Defects159
Ariadne LetraUniversity Of Texas Health Science Center HoustonWhole Genome Sequencing Studies Of Multiplex Nonsyndromic Cleft Lip/Palate Families923
Philip J LupoBaylor College Of MedicineGenetic Overlap Between Anomalies And Cancer In Kids In The Childrens Oncology Group: The COG GOBACK Study1200
Soheil MeshinchiFred Hutchinson Cancer Research CenterGermline And Somatic Variants In Pediatric AML1232
Adam Resnick Children's Hosp Of PhiladelphiaGermline And Somatic Disease Modifiers Of Pediatric Brain Tumors*4594
Michael ScheurerBaylor College Of MedicineGenomic Analysis Of Histiocytosis1100
Adam Shlien
 
Hospital For Sick Chldrn (Toronto)Discovering The Timing And Origins Of Bone And Soft Tissue Cancers*685
*Sequencing of this project is supported by the NIH Childhood Cancer Data initiative and and the data will be shared through the NCI Cancer Data Service
2020 X01 Projects for the Gabriella Miller Kids First Program
Contact PI NameInstitution NameTitleAnticipated Number of Samples
Wendy ChungColumbia University Health SciencesGenomic Analysis of Congenital Diaphragmatic Hernia and Associated Congenital Anomalies1804
Mary MarazitaUniversity of PittsburghKids First: Genomics of Orofacial Cleft Birth Defects in Families from Puerto Rico, Central and South America214
Kathryn WeaverCincinnati Children's Hospital Medical Center Genetic diagnoses in a cohort of individuals with valvar pulmonary stenosis891
2019 X01 Projects for the Gabriella Miller Kids First Program
2018 X01 Projects* for the Gabriella Miller Kids First Program
Contact PI NameInstitution NameTitleAnticipated Number of Samples
Christina ChambersUniversity Of California, San DiegoDiscovery of Genetic Basis of Fetal Alcohol Spectrum Disorders**236
Wendy ChungColumbia University Health SciencesGenomic Analysis of Esophageal Atresia and Tracheoesophageal Fistulas and Associated Congenital AnomaliesData Available through dbGaP
Accession Number:phs002161
Beth DroletMedical College Of WisconsinAnalyzing the Genetic Spectrum of Vascular Anomalies, Overgrowth and Structural Birth Defects300
Ali GharaviColumbia University Health SciencesGenetics of Structural Defects of the Kidney and Urinary TractData Available through dbGaP
Accession Number:phs002162
Angie JelinJohns Hopkins UniversitySingle gene pathogenic variants associated with BEEC (Bladder extrophy, Epispadias, Complex)425
Ian KrantzChildren's Hospital Of PhiladelphiaGenomic Diagnostics in Cornelia de Lange Syndrome, Related Diagnoses and Structural Birth Defects400
Ching LauThe Jackson LaboratoryGenetic Predisposition to Intracranial Germ Cell Tumors800
Philip LupoBaylor College Of MedicineGenomic Analysis of Congenital Heart Defects and Acute Lymphoblastic Leukemia in Children with Down Syndrome***2816 
Soheil MeshinchiFred Hutchinson Cancer Research CenterGermline and Somatic Variants in Myeloid Malignancies in Children***2000
Christine SeidmanHarvard Medical SchoolGermline Mutations in CHD300
Jonathan SeidmanHarvard Medical SchoolThe Genetics of Microtia in Hispanic PopulationsData Available through dbGaP
Accession Number:phs002172
*All projects are pending sequencing completion
**Sequencing of this project is partially supported by the National Institute on Alcohol Abuse and Alcoholism (NIAAA)
***Sequencing of this project is partially supported by the Investigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project
2017 X01 Projects for the Gabriella Miller Kids First Program
Contact PI NameInstitution NameTitleAnticipated Number of SamplesEstimated Release Dates
Simeon BoydUniversity of California DavisWhole genome sequencing of nonsyndromic craniosynostosis1140Data Available through dbGaP
Accession Number: phs001806
Azeez ButaliUniversity of IowaWhole Genome Sequencing of African and Asian Orofacial Clefts Case-Parent Triads805Data Available through dbGaP 
Accession Number:phs001997
Wendy ChungColumbia University Health SciencesGenomic Analysis of Congenital Diaphragmatic Hernia and Associated Congenital Anomalies815Data Available through dbGaP 
Accession Number: phs001110
Hakon HakonarsonChildren's Hospital of PhiladelphiaGenetics at the Intersection of Childhood Cancer and Birth Defects1788Data Available through dbGaP
Accession Number:phs001846
Daniela LuquettiUniversity of WashingtonCraniofacial Microsomia: Genetic Causes and Pathway Discovery300Data Available through dbGaP
Accession Number:phs002130
Joshua SchiffmanUniversity of UtahExpanded Ewing sarcoma cohort for tumor genomics and association with DNA repair deficiencies, clinical presentation, and outcome785TBD
Dawn SiegelMedical College of WisconsinGenomic analysis of a cohort with infantile hemangiomas associated with multi-organ structural birth defects300Data Available through dbGaP
Accession Number:phs001785
Nara SobreiraJohns Hopkins UniversityGenome-wide Sequencing to Identify the Genes Responsible for Enchondromatoses and Related Malignant Tumors350Data Available through dbGaP
Accession Number: phs001987
2016 X01 Projects for the Gabriella Miller Kids First Program
Contact PI NameInstitution NameTitleAnticipated Number of SamplesEstimated Release Dates
Wendy ChungColumbia University Health SciencesGenomic Analysis of Congenital Diaphragmatic Hernia and Associated Congenital Anomalies942 + 15 (long read pilot)

Data Available through dbGaP

Accession Number: phs001110

Mary MarazitaUniversity of Pittsburgh at PittsburghKids First: Genomics of Orofacial Cleft Birth Defects in Latin American Families831 + 15 (long read pilot)

Data Available through dbGaP

Accession Number: phs001420

John MarisChildren's hospital of PhiladelphiaGenetic Basis of Neuroblastoma initiation and progression2154

Data Available through dbGaP

Accession Number: phs001436

Charles MullighanSt. Jude Children's Research HospitalGenomic Analysis of Familial Leukemia483

Data Available through dbGaP

Accession Number: phs001738

Sharon PlonBaylor College of MedicineIdentifying Novel Cancer Susceptibility Mutations from Unselected Childhood Cancer Patient and Parent Trios371

Data Available through dbGaP

Accession Number: phs001878 

Jonathan RiosUT Southwestern Medical CenterGenomics of Orthopaedic Disease Program300

Data Available through dbGaP

Accession Number: phs001410

Christine SeidmanHarvard Medical SchoolDiscovery of De Novo and Inherited Mutations that Cause Prevalent Birth Defects1275Data Available through dbGaP
Accession Number:phs001138
Jun ShenBrigham and Women's HospitalHear-n-Seq: Sequencing Kids First for Hearing437TBD
2015 X01 Projects for the Gabriella Miller Kids First Program
Contact PI NameInstitution NameTitleAnticipated Number of SamplesEstimated Release Dates
Wendy ChungColumbia University Health SciencesGenomic Analysis of Congenital Diaphragmatic Hernia600

Data Available through dbGaP

Accession Number: phs001110

Elizabeth EngleChildren's Hospital CorporationBCH Structural Birth Defects Collaboration: Syndromic cranial dysinnervation disorders900

Data Available through dbGaP

Accession Number:

phs001247

Mary MarazitaUniversity of PittsburghGenomic Studies of Orofacial Cleft Birth Defects1242

Data Available through dbGaP

Accession Number:

phs001168

Kenan OnelThe University of ChicagoAn Integrated Clinical and Genomic Analysis of Treatment Failure in Pediatric Osteosarcoma400

Data Available through dbGaP

Accession Number: phs001714

Joshua SchiffmanUniversity of UtahGenetic Contribution to Ewing Sarcoma in 330 parent-Offspring Trios1112

Data Available through dbGaP

Accession Number:

phs001228

 

Christine SeidmanPresident and Fellows of Harvard CollegeDiscovery of the Genetic Basis of Structural Heart and Other Birth Defects900

Data Available through dbGap

Accession Number:

phs001138

Eric VilainUniversity of California Los AngelesGenetic Basis of Disorders/Differences of Sex Development (DSD)300

Data Available through dbGaP

Accession Number:

phs001178

 

This page last reviewed on March 14, 2024