Publications

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Author [ Title(Desc)] Year
Filters: Author is Agrawal, Pankaj B  [Clear All Filters]
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A
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).
C
Morton, S. U. et al. Congenital Heart Defects Due to Missense Variants. Circ Genom Precis Med 13, e002843 (2020).
D
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).
E
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).
G
Wojcik, M. H., Reimers, R., Poorvu, T. & Agrawal, P. B. Genetic diagnosis in the fetus. J Perinatol 40, 997-1006 (2020).
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).
H
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).
I
Wojcik, M. H. et al. Infant mortality: the contribution of genetic disorders. J Perinatol 39, 1611-1619 (2019).
N
Qualls, A. E. et al. Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. Muscle Nerve 59, 357-362 (2019).
P
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).
U
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