Gabriella Miller 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
Joseph Gleeson	University of California, San Diego	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

Kids First X01 Projects

Kids First X01 Projects