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Results for Cornelia de Lange Syndrome

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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
Matthew A. Deardorff , MD, PhD
Photo of Matthew A. Deardorff

Dr. Deardorff’s work integrates patient information with genomics and cell biology to diagnosis and understand rare genetic disease.  His research focuses on disorders caused by dysregulation of chromatin or altered translational regulation, specifically, Cornelia de Lange, Coffin-Siris, Skraban-Deardorff and KBG syndromes.

E-mail:
deardorff [at] chop.edu
Soma Jyonouchi, MD
Soma Jyonouchi

Dr. Jyonouchi, is an attending physician with the Division of Allergy and Immunology and the Center for Cornelia de Lange Syndrome and Related Diagnoses at Children's Hospital of Philadelphia. His research focuses on immunodeficiency in Cornelia de Lange syndrome and other genetic syndromes, and asthma.

E-mail:
jyonouchi [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

In the News: Chromatin Rebuilding, Hemophilia Oral Treatment, Linking CVD and CKD, New Algorithm Detects Genetic Variants

Published on
Dec 13, 2019
in Cornerstone Blog
In the News
Learn about developments in chromatin rebuilding, novel hemophilia treatment, linking heart and kidney disease, and genetic sequencing.

Roberts Individualized Medical Genetics Center Breaking Down Silos to Share Data

Published on
Oct 30, 2019
in Cornerstone Blog
Roberts Individualized Medical Genetics Center’s team
Roberts Individualized Medical Genetics Center’s new large genetic database and portal is now accessible to all CHOP investigators.

Finding Answers: How Genetic Counselors Improve Families’ Lives With Science and Compassion

Published on
Sep 3, 2019
in Cornerstone Blog
Sarah Raible
Genetic counselor Sarah Raible works with families affected by rare diseases to explain complicated results of research testing and share novel discoveries.

Our Most Read Stories of 2018 Celebrate Diversity, Data, and Discovery

Published on
Dec 31, 2018
in Cornerstone Blog
Photo of family watching winter fireworks
We peeked into our data to see which research stories captivated our readers the most in 2018: Here are our top six.

Curious to Confident: Students Bask in Summer Research Experience

Published on
Aug 1, 2018
in Cornerstone Blog
CHOP Rises
A summer of science hosted by the CHOP-RISES program sparked the curiosity of six students from under-resourced high schools.

CHOP Honors Superhuman Abilities of Clinical Research Coordinators

Published on
Nov 1, 2016
in Cornerstone Blog
CRC RE@CH
2016 CRC RE@CH Award winners, Sarah Noon, MS, CGC (left) and Eileen Ford (right)


Not all superheroes wear masks and capes. At Children's Hospital of Philadelphia, clinical research coordinators are the often-unsung superheroes doing important work in plain clothes and in plain sight. A good coordinator makes the process of participating in clinical studies easy and enjoyable for families while capably
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In this section

Filter By

  • Principal Investigator / Faculty (4)

Organizations

  • Roberts Individualized Medical Genetics Center (3)
  • Office of Academic Training and Outreach Programs (2)
  • Center for Applied Genomics (1)
  • Center for Autism Research (1)
  • Center for Childhood Cancer Research (1)
  • Center for Computational and Genomic Medicine (1)
  • Center for Injury Research and Prevention (1)
  • Clinical Research Support Office (1)
  • Department of Pediatrics (1)
  • Division of Hematology (1)
  • Division of Human Genetics (1)
  • Division of Nephrology (1)
  • Intellectual and Developmental Disabilities Research Center (1)
  • Pediatric Center of Excellence in Nephrology (1)
  • PolicyLab (1)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (1)
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