Ian D. Krantz

Overview

Best Publications

• Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

  David T. Miller;Margaret P. Adam;Margaret P. Adam;Swaroop Aradhya;Leslie G. Biesecker

  3018
  Citations

• Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

  Linheng Li;Ian D. Krantz;Yu Deng;Yu Deng;Anna Genin

  1409
  Citations

• KILLER/DR5 is a DNA damage–inducible p53–regulated death receptor gene

  G. S. Wu;T. F. Burns;E. R. McDonald;W. Jiang

  1405
  Citations

• Mutations in the human Jagged1 gene are responsible for Alagille syndrome

  Takaya Oda;Abdel G. Elkahloun;Brian L. Pike;Kazuki Okajima

  1264
  Citations

• Rare Variants Create Synthetic Genome-Wide Associations

  Samuel P. Dickson;Kai Wang;Ian Krantz;Ian Krantz;Ian Krantz;Hakon Hakonarson;Hakon Hakonarson;Hakon Hakonarson

  1036
  Citations

• Microduplications of 16p11.2 are Associated with Schizophrenia

  Shane E. McCarthy;Vladimir Makarov;George Kirov;Anjene M. Addington

  845
  Citations

• Cornelia de Lange syndrome is caused by mutations in NIPBL , the human homolog of Drosophila melanogaster Nipped-B

  Ian D. Krantz;Jennifer McCallum;Cheryl DeScipio;Maninder Kaur

  829
  Citations

• NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway

  Ryan McDaniell;Daniel M. Warthen;Pedro A. Sanchez-Lara;Athma Pai

  817
  Citations

• Features of alagille syndrome in 92 patients: Frequency and relation to prognosis

  Karan M. Emerick;Elizabeth B. Rand;Elizabeth Goldmuntz;Ian D. Krantz

  666
  Citations

• HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

  Matthew A. Deardorff;Masashige Bando;Ryuichiro Nakato;Erwan Watrin

  655
  Citations

• Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

  Matthew A. Deardorff;Matthew A. Deardorff;Maninder Kaur;Dinah Yaeger;Abhinav Rampuria

  606
  Citations

• Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

  Laura K. Conlin;Brian D. Thiel;Carsten G. Bonnemann;Livija Medne

  488
  Citations

• NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations

  Lynette A. Gillis;Jennifer McCallum;Maninder Kaur;Cheryl DeScipio

  410
  Citations

• Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality.

  Binita M. Kamath;Nancy B. Spinner;Karan M. Emerick;Albert E. Chudley

  375
  Citations

• Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance

  Antonie D. Kline;Ian D. Krantz;Annemarie Sommer;Mark Kliewer

  345
  Citations

• Analysis of Cardiovascular Phenotype and Genotype-Phenotype Correlation in Individuals With a JAG1 Mutation and/or Alagille Syndrome

  Doff B. McElhinney;Ian D. Krantz;Lynn Bason;David A. Piccoli

  337
  Citations

• RAD21 Mutations Cause a Human Cohesinopathy

  Matthew A. Deardorff;Matthew A. Deardorff;Jonathan J. Wilde;Melanie Albrecht;Emma Dickinson

  318
  Citations

• FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

  Kimberly A Aldinger;Ordan J Lehmann;Louanne Hudgins;Victor V Chizhikov

  283
  Citations

• Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

  Jan Halbritter;Albane A. Bizet;Miriam Schmidts;Jonathan D. Porath

  276
  Citations

• Transcriptional dysregulation in NIPBL and cohesin mutant human cells.

  Jinglan Liu;Zhe Zhang;Masashige Bando;Takehiko Itoh

  274
  Citations