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Results for Genetics

1 - 10 of 873

Laura Almasy, PhD
Laura Almasy

Dr. Almasy's work involves statistical genetic studies of addiction, autism, schizophrenia, and related quantitative risk factors.

E-mail:
almasyl [at] chop.edu
Elizabeth J.K. Bhoj, MD PhD
Elizabeth J.K. Bhoj

Dr. Bhoj's genetics research aims to discover new human disease genes, their mechanisms, and potential targeted therapies. In addition to ongoing gene discovery efforts, Dr. Bhoj focuses on three novel genes that lead to pediatric neurologic dysfunction: TBC1 domain-containing kinase, Histone 3.3 (H3F3A and H3F3B), and MAP4K4.

E-mail:
bhoje [at] chop.edu
Nancy B. Spinner, PhD
Nancy B. Spinner

Dr. Spinner's research focuses on the etiology and expressivity of pediatric developmental disorders. She uses genomic methods to focus on the multisystem disorder Alagille syndrome and biliary atresia, a likely heterogeneous and poorly understood condition. She is also interested in using genomic tools to continue to improve diagnostic rates for constitutional genetic disorders.

E-mail:
spinner [at] chop.edu
Minjie Luo, PhD, FACMG
Minjie Luo

Dr. Luo’s clinical research involves employing a variety of techniques to evaluate genetic and genomic alterations for integrated diagnosis of both constitutional disorders and cancer, and to understand the mechanisms of genomic changes.

E-mail:
luom [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
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
Douglas C. Wallace, PhD
Douglas C. Wallace

Dr. Wallace is a geneticist and evolutionary biologist who founded the field of mitochondrial medicine 40 years ago. He investigates the role of mitochondria in human evolution, health, and disease.

E-mail:
wallaced1 [at] chop.edu
Elaine H. Zackai, MD
Elaine H. Zackai
E-mail:
zackai [at] chop.edu
Ian D. Krantz, MD
Ian D. Krantz Headshot

Dr. Krantz's lab identifies and characterizes the molecular etiology of syndromic and non-syndromic developmental disorders. He has identified genes for several genetic conditions (Cornelia de Lange Syndrome, CHOPS syndrome, Alagille syndrome, hearing loss) implicating critical molecular pathways in human disorders for the first time. He has been at the forefront of studying the integration of genomics into clinical settings.

E-mail:
krantz [at] chop.edu
Jennifer M. Kalish, MD, PhD
Jennifer M. Kalish

Dr. Kalish's research focuses on understanding the molecular and epigenetic mechanisms that contribute to the predisposition to cancer that is characteristic of pediatric patients with rare imprinted gene disorders, including the overgrowth disorder Beckwith-Wiedemann syndrome (BWS).

E-mail:
kalishj [at] chop.edu
1 - 10 of 873

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In this section

Filter By

  • Principal Investigator / Faculty (92)
  • Researcher / Lab Personnel (4)
  • Research Administration (3)

Organizations

  • Center for Applied Genomics (94)
  • Department of Pediatrics (70)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (51)
  • Center for Injury Research and Prevention (50)
  • Center for Autism Research (49)
  • PolicyLab (49)
  • Division of Human Genetics (44)
  • Center for Childhood Cancer Research (41)
  • Division of Neurology (37)
  • Division of Oncology (35)
  • Center for Mitochondrial and Epigenomic Medicine (31)
  • Department of Biomedical and Health Informatics (31)
  • Department of Pathology and Laboratory Medicine (29)
  • Division of Infectious Diseases (23)
  • Division of Endocrinology and Diabetes (22)
  • Mitochondrial Medicine (21)
  • Division of Hematology (20)
  • Center for Pediatric Clinical Effectiveness (19)
  • Division of Allergy and Immunology (19)
  • Office of Academic Training and Outreach Programs (19)
  • Roberts Individualized Medical Genetics Center (18)
  • Center for Computational and Genomic Medicine (16)
  • Center for Data-Driven Discovery in Biomedicine (16)
  • Department of Child and Adolescent Psychiatry and Behavioral Sciences (15)
  • Lifespan Brain Institute (14)
  • Spatial and Functional Genomics Collaborative (14)
  • Department of Anesthesiology and Critical Care Medicine (13)
  • Division of Neonatology (12)
  • Children’s Oncology Group (11)
  • Division of Orthopaedic Surgery (11)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (11)
  • Cancer Immunotherapy (CAR-T) (9)
  • Congenital Hyperinsulinism Research Laboratory (9)
  • Department of Radiology (8)
  • Division of Adolescent Medicine (8)
  • PennCHOP Microbiome Program (8)
  • Comprehensive Bone Marrow Failure Center (7)
  • Division of Emergency Medicine (7)
  • Leukodystrophy Center of Excellence (7)
  • Department of Surgery (6)
  • Division of Cardiology (6)
  • Division of Gastroenterology, Hepatology, and Nutrition (6)
  • Center for Violence Prevention (5)
  • CHOP Microbiome Center (5)
  • Clinical Research Support Office (5)
  • Division of General Pediatrics (5)
  • Division of Pulmonary and Sleep Medicine (5)
  • Intellectual and Developmental Disabilities Research Center (5)
  • Lurie Family Foundations MEG Imaging Center (5)
  • Advancement of Hyperinsulinism Care and Research (4)
  • Akizu Laboratory (4)
  • Cell and Gene Therapy Collaborative (4)
  • Center for Child Injury Prevention Studies (4)
  • Center for Human Phenomic Science (4)
  • Division of Cancer Pathobiology (4)
  • Division of Neurosurgery (4)
  • Division of Plastic and Reconstructive Surgery (4)
  • Division of Rheumatology (4)
  • eMERGE (4)
  • Friedreich’s Ataxia Center of Excellence (4)
  • Minds Matter Concussion Program (4)
  • Rivella Laboratory (4)
  • Sleep Center (4)
  • Song Laboratory (4)
  • Translational Research Program in Pediatric Orthopaedics (4)
  • Almasy Laboratory (3)
  • Bhoj Laboratory (3)
  • Brain-Gene-Development Lab (3)
  • Center for Applied Genomics Laboratory (3)
  • Clinical Vector Core (3)
  • Comprehensive Center for the Cure of Sickle Cell Disease and Other Red Blood Cell Disorders (3)
  • De León-Crutchlow Laboratory (3)
  • Division of Nephrology (3)
  • Division of Ophthalmology (3)
  • Inflammatory Bowel Disease Center (3)
  • Jill and Mark Fishman Center for Lymphatic Disorders (3)
  • Maris Laboratory (3)
  • mHealth Research Affinity Group (3)
  • Office of Faculty Development (3)
  • Research Creative Services (3)
  • Romberg Laboratory (3)
  • Silverman Laboratory (3)
  • Spatial and Functional Genomics Research Affinity Group (3)
  • St. Geme Laboratory (3)
  • Beckwith-Wiedemann Syndrome Program of Excellence (2)
  • Bernt Laboratory (2)
  • Center for Pediatric Airway Disorders (2)
  • Chronic Kidney Disease in Children Study (2)
  • Davidson Laboratory (2)
  • DBHi Bioinformatics (2)
  • Developmental Biology Research Affinity Group (2)
  • Division of Protective Immunity (2)
  • Food Allergy Center (2)
  • Grant Laboratory (2)
  • Heuckeroth Laboratory (2)
  • Hill Laboratory (2)
  • Immune Dysregulation Program (2)
  • Innovation Ecosystem (2)
  • Marks Laboratory (2)
  • Metabolism, Nutrition, and Physical Development Research Affinity Group (2)
  • Mossé Laboratory (2)
  • Pennsylvania Pediatric Medical Device Consortium (2)
  • Research Vector Core (2)
  • Shalem Laboratory (2)
  • Thyroid Center (2)
  • Vanderver Laboratory (2)
  • Wells Laboratory (2)
  • West Philadelphia Asthma Care (2)
  • Wolfson Family Laboratory for Clinical and Biomedical Optics (2)
  • Wyss/Campbell Center for Thoracic Insufficiency Syndrome (2)
  • Ahrens-Nicklas Laboratory (1)
  • Aquatic Zebrafish Core (1)
  • Arcus (1)
  • Bailis Laboratory (1)
  • Blobel Laboratory (1)
  • Bosse Laboratory (1)
  • Center for Pediatric Heart Valve Disorders (1)
  • Center for Single Cell Biology Service Core (1)
  • Clinical In Vivo Gene Therapy (1)
  • Cystic Fibrosis-Related Diabetes Research Program (1)
  • Division of Cell Pathology (1)
  • Division of Developmental and Behavioral Pediatrics (1)
  • Division of Fetal Imaging (1)
  • Division of Neuroradiology (1)
  • Division of Otolaryngology (1)
  • Division of Rehabilitation Medicine (1)
  • Division of Urology (1)
  • Eisch Laboratory (1)
  • Fetal Biology and Therapy Research Affinity Group (1)
  • Feudtner Laboratory (1)
  • Fred and Suzanne Biesecker Pediatric Liver Center (1)
  • Global Health Research Affinity Group (1)
  • Hamilton Laboratory (1)
  • Helbig Laboratory (1)
  • IDDRC Neuroimaging and Neurocircuitry Core (1)
  • Izumi Laboratory (1)
  • Kurre Laboratory (1)
  • Levine Laboratory (1)
  • Lin Laboratory (1)
  • Ma Laboratory for Immune Engineering (1)
  • Margaritis Laboratory (1)
  • Mitochondria Research Affinity Group (1)
  • Neuroscience Research Affinity Group (1)
  • Office of the Ruth M. Colket Chair Pediatric Nursing Science (1)
  • Ortiz-Gonzalez Laboratory (1)
  • Pacifici Laboratory (1)
  • Pediatric Center of Excellence in Nephrology (1)
  • Pediatric Research Consortium (1)
  • Pediatric Research in Office Settings (1)
  • PEDSnet (1)
  • Research Information Services (1)
  • Stress Neurobiology Program (1)
  • The Resuscitation Science Center (1)
  • Thomas-Tikhonenko Laboratory (1)
  • Wallace Laboratory (1)
  • Wolfe Lab (1)

In this section

Filter By

  • Principal Investigator / Faculty (92)
  • Researcher / Lab Personnel (4)
  • Research Administration (3)

Organizations

  • Center for Applied Genomics (94)
  • Department of Pediatrics (70)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (51)
  • Center for Injury Research and Prevention (50)
  • Center for Autism Research (49)
  • PolicyLab (49)
  • Division of Human Genetics (44)
  • Center for Childhood Cancer Research (41)
  • Division of Neurology (37)
  • Division of Oncology (35)
  • Center for Mitochondrial and Epigenomic Medicine (31)
  • Department of Biomedical and Health Informatics (31)
  • Department of Pathology and Laboratory Medicine (29)
  • Division of Infectious Diseases (23)
  • Division of Endocrinology and Diabetes (22)
  • Mitochondrial Medicine (21)
  • Division of Hematology (20)
  • Center for Pediatric Clinical Effectiveness (19)
  • Division of Allergy and Immunology (19)
  • Office of Academic Training and Outreach Programs (19)
  • Roberts Individualized Medical Genetics Center (18)
  • Center for Computational and Genomic Medicine (16)
  • Center for Data-Driven Discovery in Biomedicine (16)
  • Department of Child and Adolescent Psychiatry and Behavioral Sciences (15)
  • Lifespan Brain Institute (14)
  • Spatial and Functional Genomics Collaborative (14)
  • Department of Anesthesiology and Critical Care Medicine (13)
  • Division of Neonatology (12)
  • Children’s Oncology Group (11)
  • Division of Orthopaedic Surgery (11)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (11)
  • Cancer Immunotherapy (CAR-T) (9)
  • Congenital Hyperinsulinism Research Laboratory (9)
  • Department of Radiology (8)
  • Division of Adolescent Medicine (8)
  • PennCHOP Microbiome Program (8)
  • Comprehensive Bone Marrow Failure Center (7)
  • Division of Emergency Medicine (7)
  • Leukodystrophy Center of Excellence (7)
  • Department of Surgery (6)
  • Division of Cardiology (6)
  • Division of Gastroenterology, Hepatology, and Nutrition (6)
  • Center for Violence Prevention (5)
  • CHOP Microbiome Center (5)
  • Clinical Research Support Office (5)
  • Division of General Pediatrics (5)
  • Division of Pulmonary and Sleep Medicine (5)
  • Intellectual and Developmental Disabilities Research Center (5)
  • Lurie Family Foundations MEG Imaging Center (5)
  • Advancement of Hyperinsulinism Care and Research (4)
  • Akizu Laboratory (4)
  • Cell and Gene Therapy Collaborative (4)
  • Center for Child Injury Prevention Studies (4)
  • Center for Human Phenomic Science (4)
  • Division of Cancer Pathobiology (4)
  • Division of Neurosurgery (4)
  • Division of Plastic and Reconstructive Surgery (4)
  • Division of Rheumatology (4)
  • eMERGE (4)
  • Friedreich’s Ataxia Center of Excellence (4)
  • Minds Matter Concussion Program (4)
  • Rivella Laboratory (4)
  • Sleep Center (4)
  • Song Laboratory (4)
  • Translational Research Program in Pediatric Orthopaedics (4)
  • Almasy Laboratory (3)
  • Bhoj Laboratory (3)
  • Brain-Gene-Development Lab (3)
  • Center for Applied Genomics Laboratory (3)
  • Clinical Vector Core (3)
  • Comprehensive Center for the Cure of Sickle Cell Disease and Other Red Blood Cell Disorders (3)
  • De León-Crutchlow Laboratory (3)
  • Division of Nephrology (3)
  • Division of Ophthalmology (3)
  • Inflammatory Bowel Disease Center (3)
  • Jill and Mark Fishman Center for Lymphatic Disorders (3)
  • Maris Laboratory (3)
  • mHealth Research Affinity Group (3)
  • Office of Faculty Development (3)
  • Research Creative Services (3)
  • Romberg Laboratory (3)
  • Silverman Laboratory (3)
  • Spatial and Functional Genomics Research Affinity Group (3)
  • St. Geme Laboratory (3)
  • Beckwith-Wiedemann Syndrome Program of Excellence (2)
  • Bernt Laboratory (2)
  • Center for Pediatric Airway Disorders (2)
  • Chronic Kidney Disease in Children Study (2)
  • Davidson Laboratory (2)
  • DBHi Bioinformatics (2)
  • Developmental Biology Research Affinity Group (2)
  • Division of Protective Immunity (2)
  • Food Allergy Center (2)
  • Grant Laboratory (2)
  • Heuckeroth Laboratory (2)
  • Hill Laboratory (2)
  • Immune Dysregulation Program (2)
  • Innovation Ecosystem (2)
  • Marks Laboratory (2)
  • Metabolism, Nutrition, and Physical Development Research Affinity Group (2)
  • Mossé Laboratory (2)
  • Pennsylvania Pediatric Medical Device Consortium (2)
  • Research Vector Core (2)
  • Shalem Laboratory (2)
  • Thyroid Center (2)
  • Vanderver Laboratory (2)
  • Wells Laboratory (2)
  • West Philadelphia Asthma Care (2)
  • Wolfson Family Laboratory for Clinical and Biomedical Optics (2)
  • Wyss/Campbell Center for Thoracic Insufficiency Syndrome (2)
  • Ahrens-Nicklas Laboratory (1)
  • Aquatic Zebrafish Core (1)
  • Arcus (1)
  • Bailis Laboratory (1)
  • Blobel Laboratory (1)
  • Bosse Laboratory (1)
  • Center for Pediatric Heart Valve Disorders (1)
  • Center for Single Cell Biology Service Core (1)
  • Clinical In Vivo Gene Therapy (1)
  • Cystic Fibrosis-Related Diabetes Research Program (1)
  • Division of Cell Pathology (1)
  • Division of Developmental and Behavioral Pediatrics (1)
  • Division of Fetal Imaging (1)
  • Division of Neuroradiology (1)
  • Division of Otolaryngology (1)
  • Division of Rehabilitation Medicine (1)
  • Division of Urology (1)
  • Eisch Laboratory (1)
  • Fetal Biology and Therapy Research Affinity Group (1)
  • Feudtner Laboratory (1)
  • Fred and Suzanne Biesecker Pediatric Liver Center (1)
  • Global Health Research Affinity Group (1)
  • Hamilton Laboratory (1)
  • Helbig Laboratory (1)
  • IDDRC Neuroimaging and Neurocircuitry Core (1)
  • Izumi Laboratory (1)
  • Kurre Laboratory (1)
  • Levine Laboratory (1)
  • Lin Laboratory (1)
  • Ma Laboratory for Immune Engineering (1)
  • Margaritis Laboratory (1)
  • Mitochondria Research Affinity Group (1)
  • Neuroscience Research Affinity Group (1)
  • Office of the Ruth M. Colket Chair Pediatric Nursing Science (1)
  • Ortiz-Gonzalez Laboratory (1)
  • Pacifici Laboratory (1)
  • Pediatric Center of Excellence in Nephrology (1)
  • Pediatric Research Consortium (1)
  • Pediatric Research in Office Settings (1)
  • PEDSnet (1)
  • Research Information Services (1)
  • Stress Neurobiology Program (1)
  • The Resuscitation Science Center (1)
  • Thomas-Tikhonenko Laboratory (1)
  • Wallace Laboratory (1)
  • Wolfe Lab (1)
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