Monies, Dorota

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

Alazami, A. M., Patel, N., Shamseldin, H. E., Anazi, S., Al-Dosari, M. S., Alzahrani, F., Hijazi, H., Alshammari, M., Aldahmesh, M. A., Salih, M. A., et al. (2015) · Cell Reports

Genomics and Rare DiseasesHereditary Neurological Disorders

Cited by 465

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

The Meta-Analyses of Glucose- and Insulin-related traits Consortium (MAGIC), Horikoshi, M., Early Growth Genetics (EGG) Consortium, Yaghootkar, H., Mook-Kanamori, D. O., Sovio, U., Taal, H. R., Hennig, B. J., Bradfield, J. P., St Pourcain, B., et al. (2013) · Nature Genetics

Birth, Development, and HealthGenetic Associations and Epidemiology

Cited by 309

Expanding the genetic heterogeneity of intellectual disability

Anazi, S., Maddirevula, S., Salpietro, V., Asi, Y. T., Alsahli, S., Alhashem, A., Shamseldin, H. E., AlZahrani, F., Patel, N., Ibrahim, N., et al. (2017) · Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 160

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

Burns, D. T., Donkervoort, S., Müller, J. S., Knierim, E., Bharucha-Goebel, D., Faqeih, E. A., Bell, S. K., AlFaifi, A. Y., Monies, D., Millan, F., et al. (2018) · The American Journal of Human Genetics

RNA Research and SplicingGenomics and Rare Diseases

Cited by 88

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

Balasubramanian, R., Choi, J.-H., Francescatto, L., Willer, J., Horton, E. R., Asimacopoulos, E. P., Stankovic, K. M., Plummer, L., Buck, C. L., Quinton, R., et al. (2014) · Proceedings of the National Academy of Sciences

Hypothalamic control of reproductive hormonesCongenital Ear and Nasal Anomalies

Cited by 83

The many faces of peroxisomal disorders: Lessons from a large Arab cohort

Alshenaifi, J., Ewida, N., Anazi, S., Shamseldin, H. E., Patel, N., Maddirevula, S., Al‐Sheddi, T., Alomar, R., Alobeid, E., Ibrahim, N., et al. (2019) · Clinical Genetics

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 23