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Results for Sequencing

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Jill R. Murrell, PhD
Jill R. Murrell

Dr. Murrell specializes in next generation sequencing including clinical exome sequencing and is working to improve test utilization.

E-mail:
murrellj [at] chop.edu
Struan F.A. Grant, PhD
Photo of Struan F.A. Grant

Dr. Grant uses high-throughput genotyping and sequencing technologies, combined with statistical and bioinformatic approaches, to unravel genomic puzzles related to multiple common complex traits.

E-mail:
grants [at] chop.edu
Kai Wang, PhD
Kai Wang

Dr. Wang's research focuses on the development of bioinformatics methods to improve the understanding of the genetic basis of human diseases, and the integration of electronic health records and genomic information to facilitate genomic medicine on scale.

E-mail:
wangk [at] chop.edu
John M. Maris, MD
John M. Maris

Dr. Maris investigates the molecular and genetic mechanisms contributing to the development and progression of neuroblastoma, a common childhood cancer. He also aims to develop new molecular diagnostic tests and less toxic, targeted therapies to treat relapsed or refractory neuroblastoma, including a major effort in immunotherapy discovery and development.

E-mail:
maris [at] chop.edu
Judith R. Kelsen, MD
Judith R. Kelsen

Dr. Kelsen’s research focus is on the genetic, immunologic, and microbiomic causes of very early onset inflammatory bowel disease. Through a multidisciplinary team approach, Dr. Kelsen and her colleagues perform genetic sequencing to identify causative genetic variants in children with VEO-IBD, study the function of these variants, and use this information to improve the clinical outcomes for these children.

E-mail:
kelsen [at] chop.edu
Lan Lin, PhD
Lan Lin

Dr. Lin studies RNA modifications (a.k.a "epitranscriptomics") in human diseases, including cancer. She develops and applies high-throughput sequencing strategies and transcriptome engineering technologies to study the regulation and function of RNA modifications, including A-to-I RNA editing and m6A RNA methylation.

E-mail:
linlan [at] chop.edu
Sharon J. Diskin, PhD
Sharon J. Diskin

Dr. Diskin's research is focused on translational genomics in childhood cancers. Her laboratory seeks to identify the genetic basis of childhood cancers by combining quantitative computational methods with rigorous "wet-lab" experimental approaches. In parallel, she has developed, and is applying, a proteogenomic approach to identify novel immunotherapeutic targets for high-risk and relapsed pediatric malignancies.

E-mail:
diskin [at] chop.edu
Michele Lambert, MD, MSTR
Michele Lambert

Dr. Lambert's research focuses on understanding the mechanisms of inherited and acquired thrombocytopenia in pediatric patients. Using clinical translational methods to link discovery in rare platelet disorders with optimizing next-generation sequencing for clinical practice, she has been involved in the Undiagnosed Disease Network Program and the Frontier Program in Immune Dysregulation, incorporating genetics of platelet disorders and immunohematology.

E-mail:
lambertm [at] chop.edu
Steven Joffe, MD, MPH
Steven Joffe

Dr. Joffe's research addresses three areas. First, he studies leadership in biomedical science, including governance within learning healthcare systems and the role of the principal investigator in multicenter trials. Second, he studies the ethical questions raised by genomic sequencing in medicine and science. Finally, he studies the ethics of human subjects research, including informed consent and clinical research design.

E-mail:
joffes [at] chop.edu
Hakon Hakonarson, MD, PhD
Hakon Hakonarson Headshot

Dr. Hakonarson is director of the Center for Applied Genomics and professor of Pediatrics at the Perelman School of Medicine, University of Pennsylvania. He leads a $40 million commitment from Children’s Hospital of Philadelphia to genomically characterize approximately 100,000 children, an initiative that has gained nationwide attention in the Wall Street Journal, New York Times, Time Magazine, Nature, and Science.

E-mail:
hakonarson [at] chop.edu
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In this section

Filter By

  • Principal Investigator / Faculty (31)
  • Research Administration (2)
  • Researcher / Lab Personnel (1)

Organizations

  • Center for Applied Genomics (39)
  • Department of Pediatrics (25)
  • Department of Biomedical and Health Informatics (19)
  • Center for Childhood Cancer Research (17)
  • Center for Computational and Genomic Medicine (16)
  • Center for Data-Driven Discovery in Biomedicine (15)
  • Department of Pathology and Laboratory Medicine (15)
  • PolicyLab (15)
  • Roberts Individualized Medical Genetics Center (15)
  • Division of Oncology (14)
  • Division of Human Genetics (13)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (12)
  • Division of Infectious Diseases (10)
  • Center for Mitochondrial and Epigenomic Medicine (8)
  • Division of Endocrinology and Diabetes (8)
  • Division of Neurology (8)
  • Mitochondrial Medicine (8)
  • CAG Sequencing Core (7)
  • Center for Autism Research (7)
  • Center for Injury Research and Prevention (7)
  • CHOP Microbiome Center (7)
  • Division of Allergy and Immunology (7)
  • PennCHOP Microbiome Program (7)
  • Center for Spatial and Functional Genomics (6)
  • Division of Hematology (6)
  • Division of Neonatology (6)
  • High Throughput Sequencing Core (6)
  • Clinical Futures (5)
  • Department of Surgery (5)
  • Division of Pulmonary and Sleep Medicine (5)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (5)
  • Children’s Oncology Group (4)
  • Comprehensive Bone Marrow Failure Center (4)
  • Department of Radiology (4)
  • Division of Cancer Pathobiology (4)
  • Division of Gastroenterology, Hepatology, and Nutrition (4)
  • Leukodystrophy Center of Excellence (4)
  • Cancer Immunotherapy (CAR-T) (3)
  • Center for Applied Genomics Laboratory (3)
  • Division of Cardiology (3)
  • Division of Nephrology (3)
  • Institutional Review Board (3)
  • Office of Academic Training and Outreach Programs (3)
  • Spatial and Functional Genomics Research Affinity Group (3)
  • Akizu Laboratory (2)
  • Cell and Gene Therapy Collaborative (2)
  • Center for Pediatric Heart Valve Disorders (2)
  • CHOP High-throughput Sequencing and Analytical Core (2)
  • Division of Emergency Medicine (2)
  • Division of General Pediatrics (2)
  • Division of Neurosurgery (2)
  • Division of Orthopaedic Surgery (2)
  • Division of Plastic, Reconstructive and Oral Surgery (2)
  • Division of Protective Immunity (2)
  • eMERGE (2)
  • Grant Laboratory (2)
  • Inflammatory Bowel Disease Center (2)
  • Jill and Mark Fishman Center for Lymphatic Disorders (2)
  • Lifespan Brain Institute (2)
  • Lurie Family Foundations MEG Imaging Center (2)
  • Minds Matter Concussion Program (2)
  • Research in the Department of Child and Adolescent Psychiatry and Behavioral Services (2)
  • Silverman Laboratory (2)
  • Thomas-Tikhonenko Laboratory (2)
  • Vanderver Laboratory (2)
  • Wells Laboratory (2)
  • Advancement of Hyperinsulinism Care and Research (1)
  • Anderson Laboratory (1)
  • Aquatic Zebrafish Core (1)
  • Bailis Laboratory (1)
  • Bhoj Laboratory (1)
  • Biorepository Resource Center (1)
  • Blobel Laboratory (1)
  • Bosse Laboratory (1)
  • Brain-Gene-Development Lab (1)
  • Center for Pediatric Airway Disorders (1)
  • Center for Single Cell Biology (1)
  • Center for Violence Prevention (1)
  • Choi Laboratory (1)
  • CHOP-Penn Proteomics Core (1)
  • CHOP Cardiovascular Institute (1)
  • Chou Laboratory (1)
  • Clinical Vector Core (1)
  • Comprehensive Center for the Cure of Sickle Cell Disease and Other Red Blood Cell Disorders (1)
  • Computational Epigenetics (1)
  • Congenital Hyperinsulinism Research Laboratory (1)
  • DBHi Bioinformatics (1)
  • Department of Anesthesiology and Critical Care Medicine (1)
  • Division of Adolescent Medicine (1)
  • Division of Developmental and Behavioral Pediatrics (1)
  • Division of Ophthalmology (1)
  • Division of Otolaryngology (1)
  • Division of Urology (1)
  • Feudtner Laboratory (1)
  • Food Allergy Center (1)
  • Fred and Suzanne Biesecker Pediatric Liver Center (1)
  • Friedreich’s Ataxia Center of Excellence (1)
  • Goldberg Laboratory (1)
  • Human Pluripotent Stem Cell Core (1)
  • John Laboratory (1)
  • Jolley Laboratory (1)
  • Krantz Laboratory (1)
  • Lefebvre Laboratory (1)
  • Lin Laboratory (1)
  • Maris Laboratory (1)
  • Marks Laboratory (1)
  • mHealth Research Affinity Group (1)
  • Mir Laboratory (1)
  • Mitochondria Research Affinity Group (1)
  • Mossé Laboratory (1)
  • Novel Therapeutics for Bleeding Disorders (1)
  • Pediatric Center of Excellence in Nephrology (1)
  • PEDSnet (1)
  • Radiology Clinical Research Core (1)
  • RIS Application Services (1)
  • Rivella Laboratory (1)
  • Romberg Laboratory (1)
  • Single Cell Technology Core (1)
  • Spinner Laboratory (1)
  • Tasian Laboratory (1)
  • Translational Research Program in Pediatric Orthopaedics (1)
  • Vaccine and Treatment Evaluation Unit (1)
  • Wallace Laboratory (1)
  • Xing Laboratory (1)

In this section

Filter By

  • Principal Investigator / Faculty (31)
  • Research Administration (2)
  • Researcher / Lab Personnel (1)

Organizations

  • Center for Applied Genomics (39)
  • Department of Pediatrics (25)
  • Department of Biomedical and Health Informatics (19)
  • Center for Childhood Cancer Research (17)
  • Center for Computational and Genomic Medicine (16)
  • Center for Data-Driven Discovery in Biomedicine (15)
  • Department of Pathology and Laboratory Medicine (15)
  • PolicyLab (15)
  • Roberts Individualized Medical Genetics Center (15)
  • Division of Oncology (14)
  • Division of Human Genetics (13)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (12)
  • Division of Infectious Diseases (10)
  • Center for Mitochondrial and Epigenomic Medicine (8)
  • Division of Endocrinology and Diabetes (8)
  • Division of Neurology (8)
  • Mitochondrial Medicine (8)
  • CAG Sequencing Core (7)
  • Center for Autism Research (7)
  • Center for Injury Research and Prevention (7)
  • CHOP Microbiome Center (7)
  • Division of Allergy and Immunology (7)
  • PennCHOP Microbiome Program (7)
  • Center for Spatial and Functional Genomics (6)
  • Division of Hematology (6)
  • Division of Neonatology (6)
  • High Throughput Sequencing Core (6)
  • Clinical Futures (5)
  • Department of Surgery (5)
  • Division of Pulmonary and Sleep Medicine (5)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (5)
  • Children’s Oncology Group (4)
  • Comprehensive Bone Marrow Failure Center (4)
  • Department of Radiology (4)
  • Division of Cancer Pathobiology (4)
  • Division of Gastroenterology, Hepatology, and Nutrition (4)
  • Leukodystrophy Center of Excellence (4)
  • Cancer Immunotherapy (CAR-T) (3)
  • Center for Applied Genomics Laboratory (3)
  • Division of Cardiology (3)
  • Division of Nephrology (3)
  • Institutional Review Board (3)
  • Office of Academic Training and Outreach Programs (3)
  • Spatial and Functional Genomics Research Affinity Group (3)
  • Akizu Laboratory (2)
  • Cell and Gene Therapy Collaborative (2)
  • Center for Pediatric Heart Valve Disorders (2)
  • CHOP High-throughput Sequencing and Analytical Core (2)
  • Division of Emergency Medicine (2)
  • Division of General Pediatrics (2)
  • Division of Neurosurgery (2)
  • Division of Orthopaedic Surgery (2)
  • Division of Plastic, Reconstructive and Oral Surgery (2)
  • Division of Protective Immunity (2)
  • eMERGE (2)
  • Grant Laboratory (2)
  • Inflammatory Bowel Disease Center (2)
  • Jill and Mark Fishman Center for Lymphatic Disorders (2)
  • Lifespan Brain Institute (2)
  • Lurie Family Foundations MEG Imaging Center (2)
  • Minds Matter Concussion Program (2)
  • Research in the Department of Child and Adolescent Psychiatry and Behavioral Services (2)
  • Silverman Laboratory (2)
  • Thomas-Tikhonenko Laboratory (2)
  • Vanderver Laboratory (2)
  • Wells Laboratory (2)
  • Advancement of Hyperinsulinism Care and Research (1)
  • Anderson Laboratory (1)
  • Aquatic Zebrafish Core (1)
  • Bailis Laboratory (1)
  • Bhoj Laboratory (1)
  • Biorepository Resource Center (1)
  • Blobel Laboratory (1)
  • Bosse Laboratory (1)
  • Brain-Gene-Development Lab (1)
  • Center for Pediatric Airway Disorders (1)
  • Center for Single Cell Biology (1)
  • Center for Violence Prevention (1)
  • Choi Laboratory (1)
  • CHOP-Penn Proteomics Core (1)
  • CHOP Cardiovascular Institute (1)
  • Chou Laboratory (1)
  • Clinical Vector Core (1)
  • Comprehensive Center for the Cure of Sickle Cell Disease and Other Red Blood Cell Disorders (1)
  • Computational Epigenetics (1)
  • Congenital Hyperinsulinism Research Laboratory (1)
  • DBHi Bioinformatics (1)
  • Department of Anesthesiology and Critical Care Medicine (1)
  • Division of Adolescent Medicine (1)
  • Division of Developmental and Behavioral Pediatrics (1)
  • Division of Ophthalmology (1)
  • Division of Otolaryngology (1)
  • Division of Urology (1)
  • Feudtner Laboratory (1)
  • Food Allergy Center (1)
  • Fred and Suzanne Biesecker Pediatric Liver Center (1)
  • Friedreich’s Ataxia Center of Excellence (1)
  • Goldberg Laboratory (1)
  • Human Pluripotent Stem Cell Core (1)
  • John Laboratory (1)
  • Jolley Laboratory (1)
  • Krantz Laboratory (1)
  • Lefebvre Laboratory (1)
  • Lin Laboratory (1)
  • Maris Laboratory (1)
  • Marks Laboratory (1)
  • mHealth Research Affinity Group (1)
  • Mir Laboratory (1)
  • Mitochondria Research Affinity Group (1)
  • Mossé Laboratory (1)
  • Novel Therapeutics for Bleeding Disorders (1)
  • Pediatric Center of Excellence in Nephrology (1)
  • PEDSnet (1)
  • Radiology Clinical Research Core (1)
  • RIS Application Services (1)
  • Rivella Laboratory (1)
  • Romberg Laboratory (1)
  • Single Cell Technology Core (1)
  • Spinner Laboratory (1)
  • Tasian Laboratory (1)
  • Translational Research Program in Pediatric Orthopaedics (1)
  • Vaccine and Treatment Evaluation Unit (1)
  • Wallace Laboratory (1)
  • Xing Laboratory (1)
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