Publications of R. Ullmann
All genres
Journal Article (119)
Journal Article
19 (1), pp. 115 - 7 (2011)
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. Eur J Hum Genet
Journal Article
32 (12), pp. 1427 - 35 (2011)
High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. Hum Mutat
Journal Article
129 (2), pp. 141 - 8 (2011)
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genet
Journal Article
16 (5), pp. 491 - 503 (2011)
Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree. Mol Psychiatry
Journal Article
19 (9), pp. 947 - 58 (2011)
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions. Eur J Hum Genet
Journal Article
175 (6), pp. 700 - 7 (2011)
Acute high-dose X-radiation-induced genomic changes in A549 cells. Radiat Res
Journal Article
478 (7367), pp. 57 - 63 (2011)
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature
Journal Article
89 (1), pp. 176 - 82 (2011)
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet
Journal Article
20 (13), pp. 2585 - 90 (2011)
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. Hum Mol Genet
Journal Article
59 (3), pp. 549 - 55 (2011)
Chromosomal aberrations as detected by array comparative genomic hybridization in early low-grade intraepithelial neoplasias of the breast. Histopathology
Journal Article
208 (8), pp. 1585 - 93 (2011)
Genomic loss of the putative tumor suppressor gene E2A in human lymphoma. J Exp Med
Journal Article
155A (11), pp. 2771 - 4 (2011)
Christianson syndrome in a patient with an interstitial Xq26.3 deletion. Am J Med Genet A
Journal Article
129 (2), pp. 141 - 148 (2010)
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 nvel loci and several mutation hotspots. Human Genetics
Journal Article
87 (4), pp. 465 - 479 (2010)
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. American Society of Human Genetics
Journal Article
Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1. Learning Disabilities, pp. 125 - 133 (2010)
Journal Article
152A (10), pp. 2651 - 2655 (2010)
11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features. American Journal of Medical Genetics. Part A.
Journal Article
19, pp. 115 - 117 (2010)
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. European Journal of Human Genetics
Journal Article
20 (9), pp. 1198 - 1206 (2010)
Gene amplification as double minutes or homogeneously staining regions in solid tumors: Origin and structure. Genome Research
Journal Article
95 (7), pp. 3446 - 3452 (2010)
Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. The Journal of Clinical Endocrinology & Metabolism
Journal Article
152A (7), pp. 1724 - 1729 (2010)
Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome. American Journal of Medical Genetics Part A