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 |
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 |
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 |
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 |
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 |
800 |
|
Philip Lupo |
Baylor College Of Medicine |
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 |
Contact PI Name | Institution Name | Title | Anticipated Number of Samples | Estimated Release Dates |
---|---|---|---|---|
Simeon Boyd |
University of California Davis |
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 |
Wendy Chung |
Columbia University Health Sciences |
Genomic Analysis of Congenital Diaphragmatic Hernia and Associated Congenital Anomalies |
815 |
Data Available through dbGaP |
Hakon Hakonarson |
Children's Hospital of Philadelphia |
Genetics at the Intersection of Childhood Cancer and Birth Defects |
1788 |
Data Available through dbGaP |
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 |
785 |
TBD | |
Dawn Siegel |
Medical College of Wisconsin |
300 |
Data Available through dbGaP Accession Number:phs001785 |
|
Nara Sobreira |
Johns Hopkins University |
350 |
Data Available through dbGaP |
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 |
2154 |
Data Available through dbGaP Accession Number: phs001436 |
|
Charles Mullighan |
St. Jude Children's Research Hospital |
483 |
Data Available through dbGaP Accession Number: phs001738 |
|
Sharon Plon |
Baylor College of Medicine |
371 |
Data Available through dbGaP Accession Number: phs001878 |
|
Jonathan Rios |
UT Southwestern Medical Center |
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 |
437 |
TBD |
Contact PI Name | Institution Name | Title | Anticipated Number of Samples | Estimated Release Dates |
---|---|---|---|---|
Wendy Chung |
Columbia University Health Sciences |
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: |
Mary Marazita |
University of Pittsburgh |
1242 |
Data Available through dbGaP Accession Number: |
|
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:
|
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: |
Eric Vilain |
University of California Los Angeles |
Genetic Basis of Disorders/Differences of Sex Development (DSD) |
300 |
Data Available through dbGaP Accession Number:
|