Bettina E. Mucha

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Bernward Hinkes, Roger C. Wiggins, Rasheed Gbadegesin et al. · Nature Genetics · 2006 · 557 citations

Mendelian Disorder, Genetic Disorder, Genetics +7

Nephrotic Syndrome in the First Year of Life: Two Thirds of Cases Are Caused by Mutations in 4 Genes (<i>NPHS1</i>, <i>NPHS2</i>, <i>WT1</i>, and <i>LAMB2</i>)

Bernward Hinkes, Bettina E. Mucha, Christopher N. Vlangos et al. · PEDIATRICS · 2007 · 432 citations

Patients with Mutations in NPHS2 (Podocin) Do Not Respond to Standard Steroid Treatment of Nephrotic Syndrome

Rainer Ruf, Anne Lichtenberger, Stephanie M. Karle et al. · Journal of the American Society of Nephrology · 2004 · 413 citations · Full text

Genetics, Renal Pathology, Genetic Epidemiology +17

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

K Hasselbacher, Roger C. Wiggins, Verena Matejas et al. · Kidney International · 2006 · 210 citations · Full text

Mendelian Disorder, Genetic Disorder, Animal Science +12

Specific Podocin Mutations Correlate with Age of Onset in Steroid-Resistant Nephrotic Syndrome

Bernward Hinkes, Christopher N. Vlangos, Saskia F. Heeringa et al. · Journal of the American Society of Nephrology · 2008 · 153 citations · Full text