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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet 104, 213-228 (2019).
Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity. Clin Genet 96, 366-370 (2019).
Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clin Epigenetics 11, 60 (2019).
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet 135, 569-586 (2016).
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet 95, 173-82 (2014).