Publications

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2021
Dyment, D. A. et al. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A 185, 119-133 (2021).
D'Gama, A. M. et al. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. Am J Med Genet A 185, 203-207 (2021).
2020
Morton, S. U. et al. Congenital Heart Defects Due to Missense Variants. Circ Genom Precis Med 13, e002843 (2020).
Mao, D. et al. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet 106, 570-583 (2020).
Wojcik, M. H. & Agrawal, P. B. Deciphering congenital anomalies for the next generation. Cold Spring Harb Mol Case Stud 6, (2020).
Wojcik, M. H., Reimers, R., Poorvu, T. & Agrawal, P. B. Genetic diagnosis in the fetus. J Perinatol 40, 997-1006 (2020).
Beam, K., Wojcik, M. H., Agrawal, P. B., Smithers, C. & Estroff, J. Prenatal Diagnosis of a Ventral Abdominal Wall Defect. Neoreviews 21, e286-e292 (2020).
2019
Wojcik, M. H. et al. Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome. J Pediatr 213, 235-240 (2019).
Wojcik, M. H. et al. Infant mortality: the contribution of genetic disorders. J Perinatol 39, 1611-1619 (2019).
Qualls, A. E. et al. Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. Muscle Nerve 59, 357-362 (2019).
Schmitz-Abe, K. et al. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet (2019). doi:10.1038/s41431-019-0401-x
2017
Edvardson, S. et al. Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. Am J Hum Genet 101, 267-273 (2017).