Schiffmann, Raphael

Invited article: an MRI-based approach to the diagnosis of white matter disorders

Schiffmann, R., & van der Knaap, M. S. (2009) · Neurology

Cerebrovascular and genetic disordersHereditary Neurological Disorders

Cited by 553

Diagnosis, prognosis, and treatment of leukodystrophies

van der Knaap, M. S., Schiffmann, R., Mochel, F., & Wolf, N. I. (2019) · The Lancet Neurology

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 175

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Jenkinson, E. M., Rodero, M. P., Kasher, P. R., Uggenti, C., Oojageer, A., Goosey, L. C., Rose, Y., Kershaw, C. J., Urquhart, J. E., Williams, S. G., et al. (2016) · Nature Genetics

Cerebrovascular and genetic disordersGenomics and Rare Diseases

Cited by 148

Whole exome sequencing in patients with white matter abnormalities

Vanderver, A., Simons, C., Helman, G., Crawford, J., Wolf, N. I., Bernard, G., Pizzino, A., Schmidt, J. L., Takanohashi, A., Miller, D., et al. (2016) · Annals of Neurology

Genomics and Rare DiseasesHereditary Neurological Disorders

Cited by 145

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

Guo, L., Bertola, D. R., Takanohashi, A., Saito, A., Segawa, Y., Yokota, T., Ishibashi, S., Nishida, Y., Yamamoto, G. L., Franco, J. F. D. S., et al. (2019) · The American Journal of Human Genetics

Bone Metabolism and DiseasesConnective tissue disorders research

Cited by 133

Update on leukodystrophies: A historical perspective and adapted definition

Kevelam, S., Steenweg, M., Srivastava, S., Helman, G., Naidu, S., Schiffmann, R., Blaser, S., Vanderver, A., Wolf, N., & van der Knaap, M. (2016) · Neuropediatrics

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 112

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

van Berge, L., Hamilton, E. M., Linnankivi, T., Uziel, G., Steenweg, M. E., Isohanni, P., Wolf, N. I., Krageloh-Mann, I., Brautaset, N. J., Andrews, P. I., et al. (2014) · Brain

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 109

GnRH-Deficient Phenotypes in Humans and Mice with Heterozygous Variants in KISS1/Kiss1

Chan, Y.-M., Broder-Fingert, S., Paraschos, S., Lapatto, R., Au, M., Hughes, V., Bianco, S. D. C., Min, L., Plummer, L., Cerrato, F., et al. (2011) · The Journal of Clinical Endocrinology & Metabolism

Hypothalamic control of reproductive hormonesSexual Differentiation and Disorders

Cited by 68

Auditory analysis of xeroderma pigmentosum 1971–2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration

Totonchy, M. B., Tamura, D., Pantell, M. S., Zalewski, C., Bradford, P. T., Merchant, S. N., Nadol, J., Khan, S. G., Schiffmann, R., Pierson, T. M., et al. (2013) · Brain

Hearing, Cochlea, Tinnitus, GeneticsDNA Repair Mechanisms

Cited by 51

Genome sequencing in persistently unsolved white matter disorders

Helman, G., Lajoie, B. R., Crawford, J., Takanohashi, A., Walkiewicz, M., Dolzhenko, E., Gross, A. M., Gainullin, V. G., Bent, S. J., Jenkinson, E. M., et al. (2020) · Annals of Clinical and Translational Neurology

Genomics and Rare DiseasesHereditary Neurological Disorders

Cited by 39