Maya Chopra

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari et al. · Human Genetics · 2016 · 155 citations · Full text

Pulmonary Circulation, Vascular Malformation, Pathology +4

Mammalian Target of Rapamycin Inhibitors for Intractable Epilepsy and Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex

Michael Cardamone, Danny Flanagan, David Mowat et al. · The Journal of Pediatrics · 2014 · 150 citations

Tuberous Sclerosis Complex, Glioma, Rapamycin Inhibitors +7

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

Przemysław Szafrański, Avinash V. Dharmadhikari, Erwin Brosens et al. · Genome Research · 2012 · 147 citations · Full text

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Marianne Rohrbach, Anthony Vandersteen, Uluç Yiş et al. · Orphanet Journal of Rare Diseases · 2011 · 105 citations · Full text

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Maya Chopra, Dustin L. Gable, Jamie Love‐Nichols et al. · Annals of Clinical and Translational Neurology · 2022 · 80 citations · Full text