PubRank

Reinhard Ullmann

Author PubWeight™ 87.44‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet 2007 5.28
2 Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011 4.85
3 Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet 2006 3.26
4 Mapping translocation breakpoints by next-generation sequencing. Genome Res 2008 2.73
5 Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet 2007 2.54
6 Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet 2007 2.22
7 Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet 2008 2.16
8 A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet 2007 2.13
9 Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain 2008 1.94
10 Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay. Am J Med Genet A 2007 1.80
11 CGHPRO -- a comprehensive data analysis tool for array CGH. BMC Bioinformatics 2005 1.71
12 Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. Am J Hum Genet 2008 1.70
13 Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet 2012 1.64
14 Gene amplification as double minutes or homogeneously staining regions in solid tumors: origin and structure. Genome Res 2010 1.62
15 Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis. Am J Med Genet A 2009 1.55
16 WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet 2010 1.49
17 Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. Am J Med Genet A 2008 1.37
18 Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet 2011 1.35
19 A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. Hum Mutat 2009 1.32
20 Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genet 2010 1.31
21 Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. Eur J Hum Genet 2010 1.29
22 Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. J Med Genet 2007 1.27
23 SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum Genet 2005 1.25
24 Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet 2011 1.24
25 Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. Eur J Hum Genet 2009 1.22
26 A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. Eur J Pediatr 2007 1.22
27 Chromosome deletions in 13q33-34: report of four patients and review of the literature. Am J Med Genet A 2008 1.05
28 Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. Eur J Hum Genet 2006 1.03
29 Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. Hum Mol Genet 2011 1.01
30 Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions. Eur J Hum Genet 2011 1.01
31 Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants? Eur J Med Genet 2007 1.00
32 Atypical goblet cell hyperplasia in congenital cystic adenomatoid malformation as a possible preneoplasia for pulmonary adenocarcinoma in childhood: A genetic analysis. Hum Pathol 2004 0.99
33 Characterization of interstitial Xp duplications in two families by tiling path array CGH. Am J Med Genet A 2008 0.99
34 Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features. Am J Med Genet A 2010 0.98
35 Genomic loss of the putative tumor suppressor gene E2A in human lymphoma. J Exp Med 2011 0.97
36 Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH. Am J Med Genet A 2007 0.94
37 Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. Eur J Hum Genet 2009 0.91
38 Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. Am J Hum Genet 2012 0.91
39 A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2. Am J Med Genet A 2006 0.91
40 Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. Am J Med Genet A 2009 0.90
41 High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. Hum Mutat 2011 0.89
42 Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature. Am J Med Genet A 2009 0.89
43 Chromosomal alterations in low-grade endometrial stromal sarcoma and undifferentiated endometrial sarcoma as detected by comparative genomic hybridization. Gynecol Oncol 2005 0.89
44 Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders. Front Genet 2013 0.88
45 Prognostic relevance of TLX3 (HOX11L2) expression in childhood T-cell acute lymphoblastic leukaemia treated with Berlin-Frankfurt-Münster (BFM) protocols containing early and late re-intensification elements. Br J Haematol 2009 0.88
46 Distinct sequences on 11q13.5 and 11q23-24 are frequently coamplified with MLL in complexly organized 11q amplicons in AML/MDS patients. Genes Chromosomes Cancer 2004 0.86
47 Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption. Genes Chromosomes Cancer 2007 0.86
48 AML/MDS with 11q/MLL amplification show characteristic gene expression signature and interplay of DNA copy number changes. Genes Chromosomes Cancer 2009 0.85
49 Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young. J Clin Endocrinol Metab 2009 0.85
50 Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients. Hum Genet 2013 0.83
51 Allelic loss in a minimal region on chromosome 16q24 is associated with vitreous seeding of retinoblastoma. Cancer Res 2007 0.83
52 A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring. Eur J Hum Genet 2012 0.83
53 A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1. Behav Genet 2010 0.83
54 Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement. Am J Med Genet A 2010 0.82
55 Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development. Eur J Hum Genet 2009 0.81
56 A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia. Eur J Hum Genet 2008 0.80
57 Copy number genome alterations are associated with treatment response and outcome in relapsed childhood ETV6/RUNX1-positive acute lymphoblastic leukemia. Haematologica 2013 0.80
58 Chromosomal aberrations as detected by array comparative genomic hybridization in early low-grade intraepithelial neoplasias of the breast. Histopathology 2011 0.80
59 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. Am J Med Genet A 2010 0.78
60 Christianson syndrome in a patient with an interstitial Xq26.3 deletion. Am J Med Genet A 2011 0.78
61 Breakpoint characterization of the der(19)t(11;19)(q13;p13) in the ovarian cancer cell line SKOV-3. Genes Chromosomes Cancer 2013 0.78
62 Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2011 0.77
63 Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. Am J Med Genet A 2010 0.77
64 Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization. Amyotroph Lateral Scler 2009 0.77
65 Analysis of chromosome-11 aberrations in pulmonary and gastrointestinal carcinoids: an array comparative genomic hybridization-based study. Virchows Arch 2004 0.77
66 500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip. Am J Med Genet A 2011 0.77
67 Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family. Am J Med Genet A 2007 0.77
68 Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome. Am J Med Genet A 2008 0.77
69 11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features. Am J Med Genet A 2010 0.76
70 Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation. Eur J Med Genet 2011 0.76
71 HNF1B abnormality (mature-onset diabetes of the young 5) in children and adolescents: high prevalence in autoantibody-negative type 1 diabetes with kidney defects. Diabetes Care 2008 0.75
72 Positioning of necrotic lobular intraepithelial neoplasias (LIN, grade 3) within the sequence of breast carcinoma progression. Genes Chromosomes Cancer 2010 0.75
73 Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24. Am J Med Genet A 2009 0.75
74 Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. Epilepsia 2008 0.75
75 An integrative approach for analyzing the interplay of genetic and epigenetic changes in tumors. Arch Pathol Lab Med 2008 0.75
76 Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23). Ophthalmic Genet 2008 0.75
77 A cryptic unbalanced translocation resulting in del 13q and dup 15q. Am J Med Genet A 2008 0.75
78 A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures. Eur J Med Genet 2008 0.75