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List of works by Erik G Puffenberger

A Novel Mutation of LAMB2 in a Multigenerational Mennonite Family Reveals a New Phenotypic Variant of Pierson Syndrome

scientific article published on January 13, 2011

A homozygous missense mutation inHERC2associated with global developmental delay and autism spectrum disorder

scientific article published on December 1, 2012

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

scientific article published on 01 February 1998

Erythrocyte pyruvate kinase deficiency in an old‐order Amish cohort: Longitudinal risk and disease management

scientific article published on August 3, 2011

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

scientific article published on January 17, 2012

Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation

scientific article

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

scientific article published on March 14, 2011

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy

scientific article

Intellectual disability associated with a homozygous missense mutation in THOC6

scientific article

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

scientific article published on July 25, 1991

Molecular Genetic Analysis in Autosomal Dominant Keratoconus

article

Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa

scientific article published on 12 November 2010

One Community’s Effort to Control Genetic Disease

scientific article published on May 17, 2012

PCR-based detection of polymorphicDdel andKpnl sites in intron 5 of the adenylate kinase (AK1) gene

scientific article published on March 11, 1991

Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx

scientific article published on July 12, 2011

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

scientific article published on February 11, 2013

Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history

scientific article published in PLoS ONE