Publications
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. Am J Med Genet A 173, 2240-2245 (2017).
A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. Ann N Y Acad Sci 1413, 119-125 (2018).
DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage. Science 349, 742-7 (2015).
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet 94, 734-44 (2014).
Next generation analytic tools for large scale genetic epidemiology studies of complex diseases. Genet Epidemiol 36, 22-35 (2012).
Multiplexed Functional Assessment of Genetic Variants in CARD11. Am J Hum Genet 107, 1029-1043 (2020).
Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome. Clin J Am Soc Nephrol 10, 1011-9 (2015).
Cytogenomic delineation and clinical follow-up of two siblings with an 8.5 Mb 6q24.2-q25.2 deletion inherited from a paternal insertion. Am J Med Genet A 164A, 2378-84 (2014).
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol 89, 828-833 (2021).
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr 171, e173438 (2017).
Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function. Am J Med Genet A 185, 798-805 (2021).
Viral infections in humans and mice with genetic deficiencies of the type I IFN response pathway. Eur J Immunol 51, 1039-1061 (2021).
Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. Am J Med Genet A 164A, 1170-4 (2014).
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. Blood 125, 591-9 (2015).
Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene. J Pediatr Gastroenterol Nutr 65, 384-387 (2017).
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late. Clin Genet 98, 477-485 (2020).
Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families. Mol Syndromol 5, 268-75 (2014).
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med 22, 538-546 (2020).
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol 73, 836-845 (2016).
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron 84, 1226-39 (2014).
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. Circ Cardiovasc Genet 10, (2017).
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Genet Med 20, 1022-1029 (2018).
Genetic regulatory variation in populations informs transcriptome analysis in rare disease. Science 366, 351-356 (2019).
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat 41, 2094-2104 (2020).
Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. J Clin Invest 129, 5568-5583 (2019).
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. Am J Med Genet A 170, 2965-2974 (2016).
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. Hum Mutat 39, 255-265 (2018).
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet 103, 794-807 (2018).
Four Individuals with a Homozygous Mutation in Exon 1f of the Gene and Associated Myasthenic Features. Genes (Basel) 11, (2020).
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients. Neuromuscul Disord 30, 310-314 (2020).
Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa). Am J Med Genet A 185, 990-994 (2021).
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med 23, 881-887 (2021).
Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia. Mol Genet Metab Rep 1, 213-219 (2014).
Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome. Endocrine 51, 236-44 (2016).
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders. Hum Genet 138, 257-269 (2019).
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative. Front Genet 10, 611 (2019).
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis 43, 1333-1348 (2020).
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet 92, 632-6 (2013).
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat 37, 653-60 (2016).
Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1. Am J Med Genet A 173, 2906-2911 (2017).
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients. JIMD Rep 44, 85-92 (2019).
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat 41, 487-501 (2020).
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. Am J Hum Genet 101, 856-865 (2017).
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. Brain 143, 2106-2118 (2020).