Gropman, Andrea

Diagnosis and management of mitochondrial disease: a consensus statement from the mitochondrial medicine society

Parikh, S., Goldstein, A., Koenig, M. K., Scaglia, F., Enns, G. M., Saneto, R., Anselm, I., Cohen, B. H., Falk, M. J., Greene, C., et al. (2015) · Genetics in Medicine

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 607

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Talkowski, M. E., Rosenfeld, J. A., Blumenthal, I., Pillalamarri, V., Chiang, C., Heilbut, A., Ernst, C., Hanscom, C., Rossin, E., Lindgren, A. M., et al. (2012) · Cell

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 577

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Redin, C., Brand, H., Collins, R. L., Kammin, T., Mitchell, E., Hodge, J. C., Hanscom, C., Pillalamarri, V., Seabra, C. M., Abbott, M.-A., et al. (2017) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 334

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

Gahl, W. A., Markello, T. C., Toro, C., Fajardo, K. F., Sincan, M., Gill, F., Carlson-Donohoe, H., Gropman, A., Pierson, T. M., Golas, G., et al. (2012) · Genetics in Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 291

New developments in Smith-Magenis syndrome (del 17p11.2)

Gropman, A. L., Elsea, S., Duncan, W. C., & Smith, A. C. (2007) · Current Opinion in Neurology

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 75

Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome

Lee, R. W. Y., Conley, S. K., Gropman, A., Porter, F. D., & Baker, E. H. (2013) · American Journal of Medical Genetics Part A

Fetal and Pediatric Neurological DisordersMetabolism and Genetic Disorders

Cited by 54

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

Muir, A. M., Gardner, J. F., van Jaarsveld, R. H., de Lange, I. M., van der Smagt, J. J., Wilson, G. N., Dubbs, H., Goldberg, E. M., Zitano, L., Bupp, C., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 35