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Results for Genetic Mapping

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1 - 10 of 64

Beverly S. Emanuel, PhD
Beverly S. Emanuel Headshot

Dr. Emanuel investigates diseases caused by abnormalities of human chromosome 22. These include the most common microdeletion syndrome, 22q11.2 deletion syndrome, and the most common recurrent constitutional translocation in humans, the t(11;22). Her efforts include discerning the mechanisms involved in generating the deletion and translocation as well as looking for modifiers of the phenotype in individuals with the deletion syndrome.

E-mail:
emanuel [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
Aaron Alexander-Bloch, MD, PhD
Aaron Alexander-Bloch, MD, PhD

Dr. Alexander-Bloch investigates normal brain development and the altered developmental trajectories that lead to mental illness. His multi-disciplinary research integrates brain imaging, genomics and clinical information.

E-mail:
alexanderba [at] chop.edu
Louis R. Ghanem, MD, PhD
Louis R. Ghanem, MD, PhD

Dr. Ghanem investigates the impact of transcriptional gene expression controls and mRNA processing upon the severity and progression of pediatric inflammatory bowel disease.

E-mail:
ghaneml [at] chop.edu

In the News: Novel Genetic Disorder, ‘Peanut Patch,’ Neonatal Outcomes, Seed Grants

Published on
May 12, 2023
in Cornerstone Blog
In the News: Novel Disorder, ‘Peanut Patch,’ Neonatal Outcomes, Seed Grants
Learn about a novel disorder caused by rare genetic variants, the importance of global neonatal outcomes, and more, in this week’s edition of In the News.

In the News: Big Data Analysis, High-risk Neuroblastoma, D3b Supports Tumor Sample Milestone

Published on
Apr 14, 2023
in Cornerstone Blog
In the News
Learn about a technique to analyze large datasets, preclinical results that show safety and efficacy of a drug that could help children with high-risk neuroblastoma, and a milestone in the CORSICA project that seeks to cure rare sinonasal cancers.

In the News: ASCI Membership, STAT Madness, Brain Chart, Single Ventricle Research Fund

Published on
Mar 3, 2023
in Cornerstone Blog
In the News: ASCI Membership, STAT Madness, Brain Chart
In this news roundup, learn about the achievements of CHOP researchers from societal inductions to grant- and grand-prize recipients.

In the News: Foundational Gift, Gates Grant, Community-engaged Research

Published on
Feb 17, 2023
in Cornerstone Blog
In the News: Foundational Gift, Community Partnerships
In this news roundup, learn how CHOP researchers are advancing research for neurological diseases and engaging in community collaborative research.

In The News: Food Allergies, Telemedicine, Parkway Run, Fungal Disease, Sickle Cell Documentary

Published on
Sep 30, 2022
in Cornerstone Blog
In the News
Learn about novel findings and new grants from Children’s Hospital of Philadelphia researchers.

In the News: Mitochondrial Disease, ALL, Type 2 Diabetes, Sleep Apnea

Published on
Sep 16, 2022
in Cornerstone Blog
In the News
This week’s In the News highlights research on mitochondrial disease, acute lymphoblastic leukemia, type 2 diabetes, and sleep apnea.
1 - 10 of 64

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In this section

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  • Principal Investigator / Faculty (4)

Organizations

  • Center for Applied Genomics (11)
  • Department of Biomedical and Health Informatics (9)
  • Department of Pediatrics (7)
  • Center for Autism Research (6)
  • Center for Childhood Cancer Research (6)
  • Center for Injury Research and Prevention (6)
  • Division of Neurology (6)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (6)
  • Center for Spatial and Functional Genomics (5)
  • Department of Pathology and Laboratory Medicine (5)
  • Division of Allergy and Immunology (5)
  • Center for Computational and Genomic Medicine (4)
  • Center for Data-Driven Discovery in Biomedicine (4)
  • Division of Infectious Diseases (4)
  • PolicyLab (4)
  • Division of Hematology (3)
  • Division of Human Genetics (3)
  • Division of Nephrology (3)
  • Mitochondrial Medicine (3)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (3)
  • Bhoj Laboratory (2)
  • Center for Pediatric Heart Valve Disorders (2)
  • Clinical Futures (2)
  • Department of Anesthesiology and Critical Care Medicine (2)
  • Department of Radiology (2)
  • Division of Endocrinology and Diabetes (2)
  • Division of Neonatology (2)
  • Division of Oncology (2)
  • Division of Orthopaedic Surgery (2)
  • Grant Laboratory (2)
  • Lifespan Brain Institute (2)
  • Office of Academic Training and Outreach Programs (2)
  • Song Laboratory (2)
  • Wells Laboratory (2)
  • Anderson Laboratory (1)
  • Bernt Laboratory (1)
  • Blobel Laboratory (1)
  • Brain-Gene-Development Lab (1)
  • Cell and Gene Therapy Collaborative (1)
  • Center for Applied Genomics Laboratory (1)
  • Center for Child Injury Prevention Studies (1)
  • Center for Human Phenomic Science (1)
  • Children’s Oncology Group (1)
  • CHOP Cardiovascular Institute (1)
  • Congenital Hyperinsulinism Research Laboratory (1)
  • Cystic Fibrosis-Related Diabetes Research Program (1)
  • DBHi Bioinformatics (1)
  • Division of Cardiology (1)
  • Division of Emergency Medicine (1)
  • Division of Gastroenterology, Hepatology, and Nutrition (1)
  • Division of General Pediatrics (1)
  • Division of Neuroradiology (1)
  • Division of Neurosurgery (1)
  • Division of Plastic, Reconstructive and Oral Surgery (1)
  • Division of Pulmonary and Sleep Medicine (1)
  • Division of Urology (1)
  • Hill Laboratory (1)
  • Lurie Family Foundations MEG Imaging Center (1)
  • Minds Matter Concussion Program (1)
  • Neonatal Chronic Lung Disease (1)
  • Pediatric Center of Excellence in Nephrology (1)
  • Pennsylvania Pediatric Medical Device Consortium (1)
  • Research in the Department of Child and Adolescent Psychiatry and Behavioral Services (1)
  • Roberts Individualized Medical Genetics Center (1)
  • Romberg Laboratory (1)
  • Single Cell Technology Core (1)
  • Spatial and Functional Genomics Research Affinity Group (1)
  • The Resuscitation Science Center (1)
  • Translational Research Program in Pediatric Orthopaedics (1)

In this section

Filter By

  • Principal Investigator / Faculty (4)

Organizations

  • Center for Applied Genomics (11)
  • Department of Biomedical and Health Informatics (9)
  • Department of Pediatrics (7)
  • Center for Autism Research (6)
  • Center for Childhood Cancer Research (6)
  • Center for Injury Research and Prevention (6)
  • Division of Neurology (6)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (6)
  • Center for Spatial and Functional Genomics (5)
  • Department of Pathology and Laboratory Medicine (5)
  • Division of Allergy and Immunology (5)
  • Center for Computational and Genomic Medicine (4)
  • Center for Data-Driven Discovery in Biomedicine (4)
  • Division of Infectious Diseases (4)
  • PolicyLab (4)
  • Division of Hematology (3)
  • Division of Human Genetics (3)
  • Division of Nephrology (3)
  • Mitochondrial Medicine (3)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (3)
  • Bhoj Laboratory (2)
  • Center for Pediatric Heart Valve Disorders (2)
  • Clinical Futures (2)
  • Department of Anesthesiology and Critical Care Medicine (2)
  • Department of Radiology (2)
  • Division of Endocrinology and Diabetes (2)
  • Division of Neonatology (2)
  • Division of Oncology (2)
  • Division of Orthopaedic Surgery (2)
  • Grant Laboratory (2)
  • Lifespan Brain Institute (2)
  • Office of Academic Training and Outreach Programs (2)
  • Song Laboratory (2)
  • Wells Laboratory (2)
  • Anderson Laboratory (1)
  • Bernt Laboratory (1)
  • Blobel Laboratory (1)
  • Brain-Gene-Development Lab (1)
  • Cell and Gene Therapy Collaborative (1)
  • Center for Applied Genomics Laboratory (1)
  • Center for Child Injury Prevention Studies (1)
  • Center for Human Phenomic Science (1)
  • Children’s Oncology Group (1)
  • CHOP Cardiovascular Institute (1)
  • Congenital Hyperinsulinism Research Laboratory (1)
  • Cystic Fibrosis-Related Diabetes Research Program (1)
  • DBHi Bioinformatics (1)
  • Division of Cardiology (1)
  • Division of Emergency Medicine (1)
  • Division of Gastroenterology, Hepatology, and Nutrition (1)
  • Division of General Pediatrics (1)
  • Division of Neuroradiology (1)
  • Division of Neurosurgery (1)
  • Division of Plastic, Reconstructive and Oral Surgery (1)
  • Division of Pulmonary and Sleep Medicine (1)
  • Division of Urology (1)
  • Hill Laboratory (1)
  • Lurie Family Foundations MEG Imaging Center (1)
  • Minds Matter Concussion Program (1)
  • Neonatal Chronic Lung Disease (1)
  • Pediatric Center of Excellence in Nephrology (1)
  • Pennsylvania Pediatric Medical Device Consortium (1)
  • Research in the Department of Child and Adolescent Psychiatry and Behavioral Services (1)
  • Roberts Individualized Medical Genetics Center (1)
  • Romberg Laboratory (1)
  • Single Cell Technology Core (1)
  • Spatial and Functional Genomics Research Affinity Group (1)
  • The Resuscitation Science Center (1)
  • Translational Research Program in Pediatric Orthopaedics (1)
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