Publications
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum Genet. 2016 ;135(12):1399-1409.
. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 ;97(6):904-13.
. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 ;108(9):1710-1724.
. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015 ;47(6):654-60.
. Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome. Am J Med Genet A. 2020 ;182(12):2919-2925.
. Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet. 2018 ;26(8):1121-1131.
. A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. Am J Med Genet A. 2018 ;176(9):1897-1909.
. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet. 2019 ;104(2):213-228.
. Cerebral visual impairment and intellectual disability caused by PGAP1 variants. Eur J Hum Genet. 2015 ;23(12):1689-93.
. Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genet Med. 2022 ;24(4):784-797.
. CAV3 mutation in a patient with transient hyperCKemia and myalgia. Neurol Neurochir Pol. 2016 ;50(6):468-473.
. . Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 ;104(3):422-438.
. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 ;92(2):304-321.
. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain. 2022 ;145(3):909-924.
. Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet. 2018 ;26(3):330-339.
. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 ;105(5):1005-1015.
. Biallelic Pathogenic Variants in Associated With Congenital Myopathy. Neurol Genet. 2021 ;7(3):e589.
. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet. 2016 ;98(1):202-9.
. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 ;99(4):886-893.
. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. J Inherit Metab Dis. 2023 ;46(6):1195-1205.
. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy. Genet Med. 2021 ;23(12):2455-2460.
. Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy. Brain. 2020 ;143(10):e83.
. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol. 2020 ;7(5):610-627.
. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023 ;191(3):794-804.
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