Publications
PhaseME: Automatic rapid assessment of phasing quality and phasing improvement. Gigascience 9, (2020).
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet 105, 689-705 (2019).
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. Am J Hum Genet 98, 1249-1255 (2016).
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A 173, 733-739 (2017).
Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest 130, 5272-5286 (2020).
Biallelic mutations in IRF8 impair human NK cell maturation and function. J Clin Invest 127, 306-320 (2017).
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum Genet 135, 1399-1409 (2016).