Ullmann, Reinhard

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., et al. (2011) · Nature

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 965

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

Kirov, G., Gumus, D., Chen, W., Norton, N., Georgieva, L., Sari, M., O'Donovan, M. C., Erdogan, F., Owen, M. J., Ropers, H.-H., et al. (2007) · Human Molecular Genetics

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 377

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Klopocki, E., Schulze, H., Strauß, G., Ott, C.-E., Hall, J., Trotier, F., Fleischhauer, S., Greenhalgh, L., Newbury-Ecob, R. A., Neumann, L. M., et al. (2007) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesCongenital limb and hand anomalies

Cited by 360

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

Kim, H.-G., Ahn, J.-W., Kurth, I., Ullmann, R., Kim, H.-T., Kulharya, A., Ha, K.-S., Itokawa, Y., Meliciani, I., Wenzel, W., et al. (2010) · The American Journal of Human Genetics

Hypothalamic control of reproductive hormonesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 195

Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree

Lesch, K.-P., Selch, S., Renner, T. J., Jacob, C., Nguyen, T. T., Hahn, T., Romanos, M., Walitza, S., Shoichet, S., Dempfle, A., et al. (2011) · Molecular Psychiatry

Genomic variations and chromosomal abnormalitiesAttention Deficit Hyperactivity Disorder

Cited by 167

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

Møller, R. S., Kübart, S., Hoeltzenbein, M., Heye, B., Vogel, I., Hansen, C. P., Menzel, C., Ullmann, R., Tommerup, N., Ropers, H.-H., et al. (2008) · The American Journal of Human Genetics

Down syndrome and intellectual disability researchGenomic variations and chromosomal abnormalities

Cited by 163

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Gregor, A., Albrecht, B., Bader, I., Bijlsma, E. K., Ekici, A. B., Engels, H., Hackmann, K., Horn, D., Hoyer, J., Klapecki, J., et al. (2011) · BMC Medical Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 121

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

Thorwarth, A., Schnittert-Hübener, S., Schrumpf, P., Müller, I., Jyrch, S., Dame, C., Biebermann, H., Kleinau, G., Katchanov, J., Schuelke, M., et al. (2014) · Journal of Medical Genetics

Genomics and Rare DiseasesDevelopmental Biology and Gene Regulation

Cited by 115

Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

Sehested, L. T., Møller, R. S., Bache, I., Andersen, N. B., Ullmann, R., Tommerup, N., & Tümer, Z. (2010) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 41

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia

Gilling, M., Lauritsen, M. B., Møller, M., Henriksen, K. F., Vicente, A., Oliveira, G., Cintin, C., Eiberg, H., Andersen, P. S., Mors, O., et al. (2008) · European Journal of Human Genetics

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 18