Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity

Role of COL4A1 in Small-Vessel Disease and Hemorrhagic Stroke

Douglas B. Gould, F. Campbell Phalan, Saskia E. van Mil et al. · New England Journal of Medicine · 2006 · 575 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in <i>Col4a1</i> Cause Perinatal Cerebral Hemorrhage and Porencephaly

Douglas B. Gould, F. Campbell Phalan, Guido J. Breedveld et al. · Science · 2005 · 531 citations

Life Sciences, Genetics, Neuroscience +17

<i>COL4A1</i> Mutations and Hereditary Angiopathy, Nephropathy, Aneurysms, and Muscle Cramps

Emmanuelle Plaisier, Olivier Gribouval, Sonia Alamowitch et al. · New England Journal of Medicine · 2007 · 363 citations · Full text

Medicine, Genetics, Molecular Genetics +11

Prediction of Collagen Stability from Amino Acid Sequence

Anton V. Persikov, John A. M. Ramshaw, Barbara Brodsky · Journal of Biological Chemistry · 2005 · 349 citations · Full text

Life Sciences, Biochemistry, Biophysics +14

Novel mutations in three families confirm a major role of <i>COL4A1</i> in hereditary porencephaly

Guido J. Breedveld · Journal of Medical Genetics · 2005 · 180 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16