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Kids First X01 Projects
2023 X01 Projects for the Gabriella Miller Kids First Program
Contact PI Name Institution Name Title Anticipated Number of Samples
Joseph G Gleeson University of California, San Diego

Whole Genome Sequencing in Structural Defects of the Neural Tube

1200
Andrew L Hong Emory University Basis of Childhood Kidney Cancers and Birth Defects 1353
Soheil Meshinchi Fred Hutchinson Cancer Research Center Long-Read Sequencing of childhood AML, DS-AML, and TAM 820
Simone Sanna-Cherchi University of Pittsburgh at Pittsburgh Epigenomics of orofacial clefts 1260
John R Shaffer University Of Texas Health Science Center Houston Whole Genome Sequencing Studies Of Multiplex Nonsyndromic Cleft Lip/Palate Families 1465
David Teachey Children's Hosp Of Philadelphia Somatic and Germline Variants in Childhood T-cell acute lymphoblastic leukemia 1185
*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 Name Institution Name Title Anticipated Number of Samples
Aravinda Chakravarti New York University School of Medicine  The genomic architecture of Hirschsprung Disease 2,137
Wendy Chung  Columbia University Health Sciences Genomic Analysis of Esophageal Atresia and Tracheoesophageal Fistulas and Associated Congenital Anoma 300
Joaquin Espinosa* University of Colorado Denver Epigenome analysis in the Human Trisome Project 1,187
Joseph Gleeson University of California, San Diego Whole Genome Sequencing in Structural Defects of the Neural Tube 600
Ingo Helbig Children's Hospital Of Philadelphia The Genetic Basis of Structural Pediatric Epilepsies 2,350
Mary Marazita  University of Pittsburgh Kids First: Genomics of Isolated Cleft Lip 2, 070

Jonathan Rios
University of Texas Southwestern Medical Center GMKF Project on Congenital Clubfoot 407
*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 Name Institution Name Title Anticipated Number of Samples
Jannine De Mars Cody University Of Texas Heath Science Center The Genomic Basis Of Structural Birth Defects Associated With Chromosome 18 Copy Number Changes 150
Sharon Diskin Children's Hosp Of Philadelphia The Genetic Basis Of Treatment Outcomes And Late Effects After High-Risk Neuroblastoma 1475
Bruce Gelb Icahn School Of Medicine At Mount Sinai Expanding Our Understanding Of The Role Of Noncoding Variation Causing Congenital Heart Defects 1500
Ian Krantz Children's Hosp Of Philadelphia Rnaseq In Cornelia De Lange Syndrome, Related Diagnoses And Structural Birth Defects 159
Ariadne Letra University Of Texas Health Science Center Houston Whole Genome Sequencing Studies Of Multiplex Nonsyndromic Cleft Lip/Palate Families 923
Philip J Lupo Baylor College Of Medicine Genetic Overlap Between Anomalies And Cancer In Kids In The Childrens Oncology Group: The COG GOBACK Study 1200
Soheil Meshinchi Fred Hutchinson Cancer Research Center Germline And Somatic Variants In Pediatric AML 1232
Adam Resnick  Children's Hosp Of Philadelphia Germline And Somatic Disease Modifiers Of Pediatric Brain Tumors* 4594
Michael Scheurer Baylor College Of Medicine Genomic Analysis Of Histiocytosis 1100
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 Name Institution Name Title Anticipated Number of Samples
Wendy Chung Columbia University Health Sciences Genomic Analysis of Congenital Diaphragmatic Hernia and Associated Congenital Anomalies 1804

Mary Marazita

University of Pittsburgh

Kids First: Genomics of Orofacial Cleft Birth Defects in Families from Puerto Rico, Central and South America 214
Kathryn Weaver Cincinnati Children's Hospital Medical Center  Genetic diagnoses in a cohort of individuals with valvar pulmonary stenosis 891
2019 X01 Projects for the Gabriella Miller Kids First Program
Contact PI Name Institution Name Title Anticipated Number of Samples
Wendy Chung Columbia University Health Sciences Genomic Analysis of Esophageal Atresia and Tracheoesophageal Fistulas and Associated Congenital Anomalies 525

Ali Gharavi

Columbia University Health Sciences

Whole Genome Sequencing in Congenital Anomalies of the Kidney and Urinary Tract

1530 

Joseph Gleeson University of California, San Diego Whole Exome, Genome, and RNA Sequencing in Recessive Structural Brain Defects in Children 1150
Whole Exome and Genome Sequencing in Structural Defects of the Neural Tube 990
Elizabeth Leslie Emory University Genomics of Orofacial Clefts in the Philippines 560
Philip Lupo

Baylor College Of Medicine

Genomic Analysis of Pediatric Rhabdomyosarcoma

1376

Donna Martin University Of Michigan At Ann Arbor Genomic Etiologies of CHARGE Syndrome, Related Conditions and Structural Anomalies 545
Jennifer Poynter University of Minnesota Genetic Susceptibility of Extracranial Germ Cell Tumors 120
David Teachey Children's Hosp Of Philadelphia Comprehensive Genomic Profiling to Improve Prediction of Clinical Outcome for Children with T-cell Acute Lymphoblastic Leukemia 1262
Stephanie Ware Indiana Univ-Purdue Univ At Indianapolis Genomic Analysis of Laterality Birth Defects 760
2018 X01 Projects* for the Gabriella Miller Kids First Program
Contact PI Name Institution Name Title Anticipated Number of Samples
Christina Chambers

University Of California, San Diego

Discovery of Genetic Basis of Fetal Alcohol Spectrum Disorders**

236

Wendy Chung Columbia University Health Sciences Genomic Analysis of Esophageal Atresia and Tracheoesophageal Fistulas and Associated Congenital Anomalies Data Available through dbGaP
Accession Number:phs002161
Beth Drolet Medical College Of Wisconsin Analyzing the Genetic Spectrum of Vascular Anomalies, Overgrowth and Structural Birth Defects 300

Ali Gharavi

Columbia University Health Sciences

Genetics of Structural Defects of the Kidney and Urinary Tract

Data Available through dbGaP
Accession Number:phs002162

Angie Jelin

Johns Hopkins University

Single gene pathogenic variants associated with BEEC (Bladder extrophy, Epispadias, Complex)

425

Ian Krantz

Children's Hospital Of Philadelphia

Genomic Diagnostics in Cornelia de Lange Syndrome, Related Diagnoses and Structural Birth Defects

400

Ching Lau

The Jackson Laboratory

Genetic Predisposition to Intracranial Germ Cell Tumors

800

Philip Lupo

Baylor College Of Medicine

Genomic Analysis of Congenital Heart Defects and Acute Lymphoblastic Leukemia in Children with Down Syndrome***

2816 

Soheil Meshinchi Fred Hutchinson Cancer Research Center Germline and Somatic Variants in Myeloid Malignancies in Children*** 2000
Christine Seidman Harvard Medical School Germline Mutations in CHD 300
Jonathan Seidman Harvard Medical School The Genetics of Microtia in Hispanic Populations Data 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 Name Institution Name Title Anticipated Number of Samples Estimated Release Dates

Simeon Boyd

University of California Davis

Whole genome sequencing of nonsyndromic craniosynostosis

1140

Data Available through dbGaP
Accession Number: phs001806

Azeez Butali

University of Iowa

Whole Genome Sequencing of African and Asian Orofacial Clefts Case-Parent Triads

805

Data Available through dbGaP 
Accession Number:phs001997

Wendy Chung

Columbia University Health Sciences

Genomic Analysis of Congenital Diaphragmatic Hernia and Associated Congenital Anomalies

815

Data Available through dbGaP 
Accession Number: phs001110

Hakon Hakonarson

Children's Hospital of Philadelphia

Genetics at the Intersection of Childhood Cancer and Birth Defects

1788

Data Available through dbGaP
Accession Number:phs001846

Daniela Luquetti

University of Washington

Craniofacial Microsomia: Genetic Causes and Pathway Discovery

300

Data Available through dbGaP
Accession Number:phs002130

Joshua Schiffman

University of Utah

Expanded Ewing sarcoma cohort for tumor genomics and association with DNA repair deficiencies, clinical presentation, and outcome

785

TBD

Dawn Siegel

Medical College of Wisconsin

Genomic analysis of a cohort with infantile hemangiomas associated with multi-organ structural birth defects

300

Data Available through dbGaP
Accession Number:phs001785

Nara Sobreira

Johns Hopkins University

Genome-wide Sequencing to Identify the Genes Responsible for Enchondromatoses and Related Malignant Tumors

350

Data Available through dbGaP
Accession Number: phs001987

2016 X01 Projects for the Gabriella Miller Kids First Program
Contact PI Name Institution Name Title Anticipated Number of Samples Estimated Release Dates

Wendy Chung

Columbia University Health Sciences

Genomic Analysis of Congenital Diaphragmatic Hernia and Associated Congenital Anomalies

942 + 15 (long read pilot)

Data Available through dbGaP

Accession Number: phs001110

Mary Marazita

University of Pittsburgh at Pittsburgh

Kids First: Genomics of Orofacial Cleft Birth Defects in Latin American Families

831 + 15 (long read pilot)

Data Available through dbGaP

Accession Number: phs001420

John Maris

Children's hospital of Philadelphia

Genetic Basis of Neuroblastoma initiation and progression

2154

Data Available through dbGaP

Accession Number: phs001436

Charles Mullighan

St. Jude Children's Research Hospital

Genomic Analysis of Familial Leukemia

483

Data Available through dbGaP

Accession Number: phs001738

Sharon Plon

Baylor College of Medicine

Identifying Novel Cancer Susceptibility Mutations from Unselected Childhood Cancer Patient and Parent Trios

371

Data Available through dbGaP

Accession Number: phs001878 

Jonathan Rios

UT Southwestern Medical Center

Genomics of Orthopaedic Disease Program

300

Data Available through dbGaP

Accession Number: phs001410

Christine Seidman

Harvard Medical School

Discovery of De Novo and Inherited Mutations that Cause Prevalent Birth Defects

1275

Data Available through dbGaP
Accession Number:phs001138

Jun Shen

Brigham and Women's Hospital

Hear-n-Seq: Sequencing Kids First for Hearing

437

TBD
2015 X01 Projects for the Gabriella Miller Kids First Program
Contact PI Name Institution Name Title Anticipated Number of Samples Estimated Release Dates

Wendy Chung

Columbia University Health Sciences

Genomic Analysis of Congenital Diaphragmatic Hernia

600

Data Available through dbGaP

Accession Number: phs001110

Elizabeth Engle

Children's Hospital Corporation

BCH Structural Birth Defects Collaboration: Syndromic cranial dysinnervation disorders

900

Data Available through dbGaP

Accession Number:

phs001247

Mary Marazita

University of Pittsburgh

Genomic Studies of Orofacial Cleft Birth Defects

1242

Data Available through dbGaP

Accession Number:

phs001168

Kenan Onel

The University of Chicago

An Integrated Clinical and Genomic Analysis of Treatment Failure in Pediatric Osteosarcoma

400

Data Available through dbGaP

Accession Number: phs001714

Joshua Schiffman

University of Utah

Genetic Contribution to Ewing Sarcoma in 330 parent-Offspring Trios

1112

Data Available through dbGaP

Accession Number:

phs001228

 

Christine Seidman

President and Fellows of Harvard College

Discovery of the Genetic Basis of Structural Heart and Other Birth Defects

900

Data Available through dbGap

Accession Number:

phs001138

Eric Vilain

University of California Los Angeles

Genetic Basis of Disorders/Differences of Sex Development (DSD)

300

Data Available through dbGaP

Accession Number:

phs001178

 

This page last reviewed on September 19, 2023