Julie Steffann

Segregation at three loci explains familial and population risk in Hirschsprung disease

Stacey Gabriel, Rémi Salomon, Anna Pelet et al. · Nature Genetics · 2002 · 275 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +11

Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system

Sophie Monnot, Nadine Gigarel, David C. Samuels et al. · Human Mutation · 2010 · 115 citations · Full text

Genetic Testing, Dna, Cytogenetics +22

Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures

Jeanne Amiel, Yolanda Espinosa‐Parrilla, Julie Steffann et al. · The American Journal of Human Genetics · 2001 · 110 citations · Full text

Smadip1 Truncating Mutations, Developmental Biology, Mendelian Disorder +10

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

Anne-Sophie Lèbre, Marlène Rio, L. Faivre d'Arcier et al. · Journal of Medical Genetics · 2010 · 96 citations · Full text

Insight into<i>IKBKG</i>/<i>NEMO</i>Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

Matilde Immacolata Conte, Alessandra Pescatore, Mariateresa Paciolla et al. · Human Mutation · 2013 · 86 citations

New Mutations, Genetics, Genomic Mechanism +17