Anselm, Irina

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

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Miller, D. T., Shen, Y., Weiss, L. A., Korn, J., Anselm, I., Bridgemohan, C., Cox, G. F., Dickinson, H., Gentile, J., Harris, D. J., et al. (2009) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 427

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

van de Kamp, J. M., Betsalel, O. T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grünewald, S., Anselm, I., Azzouz, H., Bratkovic, D., de Brouwer, A., Hamel, B., et al. (2013) · Journal of Medical Genetics

Metabolism and Genetic DisordersGenetics and Neurodevelopmental Disorders

Cited by 164

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders

Farmer, C. A., Kaat, A. J., Thurm, A., Anselm, I., Akshoomoff, N., Bennett, A., Berry, L., Bruchey, A., Barshop, B. A., Berry-Kravis, E., et al. (2020) · American Journal on Intellectual and Developmental Disabilities

Psychometric Methodologies and TestingAutism Spectrum Disorder Research

Cited by 62

Genotype–phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

van de Kamp, J. M., Errami, A., Howidi, M., Anselm, I., Winter, S., Phalin‐Roque, J., Osaka, H., van Dooren, S. J. M., Mancini, G. M., Steinberg, S. J., et al. (2015) · Clinical Genetics

Metabolism and Genetic DisordersGenetics and Neurodevelopmental Disorders

Cited by 33