Ian D. Krantz

About

Ian D. Krantz, M.D., is an Emeritus Professor and the Chief of Pediatrics (Human Genetics) at the Children's Hospital of Philadelphia. He is also a faculty member at the Perelman School of Medicine at the University of Pennsylvania. Dr. Krantz directs the Roberts Individualized Medical Genetics Center at CHOP, which facilitates genomic diagnostics across the enterprise and leverages clinical and genomic information for research. His clinical interests focus on dysmorphology and pediatric genetic disorders, with multispecialty clinics for conditions such as Alagille syndrome, Cornelia de Lange syndrome (CdLS), Pallister-Killian syndrome (PKS), CHOPS syndrome, and related diagnoses. He has established an endowed Center for Cornelia de Lange Syndrome and Related Diagnoses to improve care and advance research toward therapeutics. His research lab concentrates on elucidating the molecular causes of syndromic and non-syndromic human developmental disorders and birth defects, with major projects on the genome-wide implications of alterations in the cohesin complex, effects on gene expression in syndromes like CdLS and PKS, and identifying genomic contributors to congenital conditions such as diaphragmatic hernias and esophageal atresia. Dr. Krantz's work also involves studying the integration of genomic technologies into pediatric practice and establishing best practice guidelines.

Research topics

• Genetics
• Medicine
• Internal medicine
• Biology
• Pathology
• Pediatrics
• Psychology
• Intensive care medicine
• Emergency medicine

Selected publications

• International electronic health record-derived COVID-19 clinical course profiles: the 4CE consortium

  npj Digital Medicine · 2020-08-19 · 214 citations

  articleOpen access

  We leveraged the largely untapped resource of electronic health record data to address critical clinical and epidemiological questions about Coronavirus Disease 2019 (COVID-19). To do this, we formed an international consortium (4CE) of 96 hospitals across five countries (www.covidclinical.net). Contributors utilized the Informatics for Integrating Biology and the Bedside (i2b2) or Observational Medical Outcomes Partnership (OMOP) platforms to map to a common data model. The group focused on tem…

  PublisherOA PDFDOI

• Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

  JAMA Pediatrics · 2021-09-27 · 171 citations

  articleOpen access

  Importance: Whole-genome sequencing (WGS) shows promise as a first-line genetic test for acutely ill infants, but widespread adoption and implementation requires evidence of an effect on clinical management. Objective: To determine the effect of WGS on clinical management in a racially and ethnically diverse and geographically distributed population of acutely ill infants in the US. Design, Setting, and Participants: This randomized, time-delayed clinical trial enrolled participants from Septemb…

  PublisherOA PDFDOI

• Evolving phenotypes of non-hospitalized patients that indicate long COVID

  BMC Medicine · 2021 · 151 citations

  BACKGROUND: For some SARS-CoV-2 survivors, recovery from the acute phase of the infection has been grueling with lingering effects. Many of the symptoms characterized as the post-acute sequelae of COVID-19 (PASC) could have multiple causes or are similarly seen in non-COVID patients. Accurate identification of PASC phenotypes will be important to guide future research and help the healthcare system focus its efforts and resources on adequately controlled age- and gender-specific sequelae of a CO…

  DOI

• Long-term kidney function recovery and mortality after COVID-19-associated acute kidney injury: an international multi-centre observational cohort study

  EClinicalMedicine · 2022 · 79 citations

  Background: While acute kidney injury (AKI) is a common complication in COVID-19, data on post-AKI kidney function recovery and the clinical factors associated with poor kidney function recovery is lacking. Methods: A retrospective multi-centre observational cohort study comprising 12,891 hospitalized patients aged 18 years or older with a diagnosis of SARS-CoV-2 infection confirmed by polymerase chain reaction from 1 January 2020 to 10 September 2020, and with at least one serum creatinine valu…

  DOI

• Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

  Genetics in Medicine · 2022 · 49 citations

  PublisherOA PDFDOI

Recent grants

• NIH Grant R21HD050538

  NIH · $425k · 2011

• Medical Genetics Research Training Grant

  NIH · $8.9M · 1997–2027

• NIH Grant R01HD039323

  NIH · $1.3M · 2007

Frequent coauthors

• Nancy B. Spinner

  Children's Hospital of Philadelphia

  273 shared

• Matthew A. Deardorff

  California University of Pennsylvania

  179 shared

• David A. Piccoli

  113 shared

• Maninder Kaur

  99 shared

• Laird G. Jackson

  Drexel University

  84 shared

• Laura K. Conlin

  University of Pennsylvania

  80 shared

• Kosuke Izumi

  75 shared

• Dinah Clark

  70 shared

Labs

• Krantz Lab at the Children's Hospital of PhiladelphiaPI

Education

• M.D., Medicine

  Tel Aviv University Sackler Faculty of Medicine

  1991

Similar researchers at University of Pennsylvania

• John Q. Trojanowskih-296
• Craig B. Thompsonh-277
• Daniel J Raderh-236