Erik G. Puffenberger

Overview

Best Publications

• Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

  Harry C. Dietz;Carry R. Cutting;Reed E. Pyeritz;Cheryl L. Maslen

  2347
  Citations

• A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease

  Erik G. Puffenberger;Kiminori Hosoda;Sarah S. Washington;Kazuwa Nakao

  1089
  Citations

• Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2

  Kevin A. Strauss;Erik G. Puffenberger;Matthew J. Huentelman;Steven Gottlieb

  709
  Citations

• Type I glutaric aciduria, part 1: Natural history of 77 patients

  Kevin A. Strauss;Erik G. Puffenberger;Donna L. Robinson;D. Holmes Morton

  416
  Citations

• Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

  Victoria E. H. Carlton;Baruch Z. Harris;Erik G. Puffenberger;A. K. Batta

  405
  Citations

• Diagnosis and Treatment of Maple Syrup Disease: A Study of 36 Patients

  D. Holmes Morton;Kevin A. Strauss;Donna L. Robinson;Erik G. Puffenberger

  373
  Citations

• Genetic mapping and exome sequencing identify variants associated with five novel diseases.

  Erik G. Puffenberger;Erik G. Puffenberger;Robert N. Jinks;Carrie Sougnez;Kristian Cibulskis

  358
  Citations

• Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

  Minerva M. Carrasquillo;Andrew S. McCallion;Erik G. Puffenberger;Carl S. Kashuk

  320
  Citations

• Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.

  Erik G.Puffenberger;Erick R.Kauffman;Stacey Bolk;Tara C.Matise

  294
  Citations

• Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

  Misha Angrist;Stacey Bolk;Bonnie Thiel;Erik G. Puffenberger

  288
  Citations

• Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

  Huiling He;Sandya Liyanarachchi;Keiko Akagi;Rebecca Nagy

  267
  Citations

• Classical maple syrup urine disease and brain development: Principles of management and formula design

  Kevin A. Strauss;Kevin A. Strauss;Kevin A. Strauss;Bridget Wardley;Donna Robinson;Christine Hendrickson

  229
  Citations

• Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

  Kym M. Boycott;Chandree L. Beaulieu;Kristin D. Kernohan;Ola H. Gebril

  218
  Citations

• Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease

  Naomi J. Lohr;Jean P. Molleston;Kevin A. Strauss;Kevin A. Strauss;Kevin A. Strauss;Wilfredo Torres-Martinez

  215
  Citations

• Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.

  Harry C. Dietz;Reed E. Pyeritz;Erik G. Puffenberger;Raymond J. Kendzior

  200
  Citations

• A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10

  Misha Angrist;Erick Kauffman;Susan A. Slaugenhaupt;Susan A. Slaugenhaupt;Tara Cox Matise

  196
  Citations

• Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease.

  Kevin A. Strauss;Donna L. Robinson;Hendrik J. Vreman;Erik G. Puffenberger

  181
  Citations

• Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function

  Erik G. Puffenberger;Diane Hu-Lince;Jennifer M. Parod;David W. Craig

  177
  Citations

• Allele Frequency Distributions in Pooled DNA Samples: Applications to Mapping Complex Disease Genes

  Sarah H. Shaw;Minerva M. Carrasquillo;Carl Kashuk;Erik G. Puffenberger

  170
  Citations

• Identification of disease causing loci using an array-based genotyping approach on pooled DNA.

  David W Craig;Matthew J Huentelman;Diane Hu-Lince;Victoria L Zismann

  81
  Citations