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 425
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

141

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 400

*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

TBD

 

Azeez Butali

University of Iowa

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

805

Late 2019

Wendy Chung

Columbia University Health Sciences

Genomic Analysis of Congenital Diaphragmatic Hernia and Associated Congenital Anomalies

815

Mid 2019

Hakon Hakonarson

Children's Hospital of Philadelphia

Genetics at the Intersection of Childhood Cancer and Birth Defects

1788

Late 2019

Daniela Luquetti

University of Washington

Craniofacial Microsomia: Genetic Causes and Pathway Discovery

300

Late 2019

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

TBD

Nara Sobreira

Johns Hopkins University

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

350

TBD

 

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)

Mid  2019

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

Late 2019

Charles Mullighan

St. Jude Children's Research Hospital

Genomic Analysis of Familial Leukemia

483

Late 2019

Sharon Plon

Baylor College of Medicine

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

371

TBD

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

Late 2019

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 November 1, 2019