Ficicioglu, Can

Structural Variation of Chromosomes in Autism Spectrum Disorder

Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 1,815

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

Chinsky, J. M., Singh, R., Ficicioglu, C., van Karnebeek, C. D. M., Grompe, M., Mitchell, G., Waisbren, S. E., Gucsavas-Calikoglu, M., Wasserstein, M. P., Coakley, K., et al. (2017) · Genetics in Medicine

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 247

A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Guéant, J.-L., Chéry, C., Oussalah, A., Nadaf, J., Coelho, D., Josse, T., Flayac, J., Robert, A., Koscinski, I., Gastin, I., et al. (2018) · Nature Communications

Epigenetics and DNA MethylationMetabolism and Genetic Disorders

Cited by 93

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

Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

Priestley, J. R. C., Adang, L. A., Drewes Williams, S., Lichter-Konecki, U., Menello, C., Engelhardt, N. M., DiPerna, J. C., DiBoscio, B., Ahrens-Nicklas, R. C., Edmondson, A. C., et al. (2022) · International Journal of Neonatal Screening

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 35