Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. Br J Ophthalmol 103, 390-397 (2019).
CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris. J Am Acad Dermatol 79, 487-494 (2018).
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int 93, 204-213 (2018).
Gene-based segregation method for identifying rare variants in family-based sequencing studies. Genet Epidemiol 41, 309-319 (2017).
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. Nat Genet 48, 457-65 (2016).
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med 18, 443-51 (2016).
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. J Clin Invest 125, 1703-7 (2015).
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med 371, 2363-74 (2014).
Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med 15, 45-54 (2013).
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proc Natl Acad Sci U S A 110, 3489-94 (2013).
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet 93, 197-210 (2013).