Publications of R. Ullmann
All genres
Journal Article (119)
21.
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 22.
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 23.
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 24.
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 25.
Journal Article
19 (9), pp. 947 - 58 (2011)
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions. Eur J Hum Genet 26.
Journal Article
175 (6), pp. 700 - 7 (2011)
Acute high-dose X-radiation-induced genomic changes in A549 cells. Radiat Res 27.
Journal Article
478 (7367), pp. 57 - 63 (2011)
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 28.
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 29.
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 30.
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 31.
Journal Article
208 (8), pp. 1585 - 93 (2011)
Genomic loss of the putative tumor suppressor gene E2A in human lymphoma. J Exp Med 32.
Journal Article
155A (11), pp. 2771 - 4 (2011)
Christianson syndrome in a patient with an interstitial Xq26.3 deletion. Am J Med Genet A 33.
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 34.
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 35.
Journal Article
Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1. Learning Disabilities, pp. 125 - 133 (2010)
36.
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. 37.
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 38.
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 39.
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 40.
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