PubRank

Hermann-Josef Lüdecke

Author PubWeight™ 21.48‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 RAD21 mutations cause a human cohesinopathy. Am J Hum Genet 2012 1.72
2 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet 2013 1.22
3 Nuclear interaction of the dynein light chain LC8a with the TRPS1 transcription factor suppresses the transcriptional repression activity of TRPS1. Hum Mol Genet 2003 1.17
4 Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal. Eur J Hum Genet 2004 1.16
5 Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet 2005 1.15
6 Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion. Am J Med Genet 2002 1.14
7 A family with autosomal dominant oculo-auriculo-vertebral spectrum. Clin Dysmorphol 2007 1.12
8 The RING finger protein RNF4, a co-regulator of transcription, interacts with the TRPS1 transcription factor. J Biol Chem 2003 0.99
9 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet 2014 0.96
10 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. Hum Genet 2015 0.94
11 Expression of Trps1 during mouse embryonic development. Mech Dev 2002 0.93
12 Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum. Hum Mol Genet 2006 0.92
13 Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. Orphanet J Rare Dis 2013 0.86
14 Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. Am J Med Genet A 2013 0.83
15 Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13). Am J Med Genet A 2008 0.83
16 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. Eur J Med Genet 2013 0.83
17 Left-ventricular non-compaction (LVNC): a clinical feature more often observed in terminal deletion 1p36 than previously expected. Eur J Med Genet 2008 0.82
18 A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. J Med Genet 2013 0.82
19 X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. Orphanet J Rare Dis 2013 0.80
20 SUMOylation modulates transcriptional repression by TRPS1. Biol Chem 2007 0.80
21 Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1. Am J Med Genet A 2010 0.79
22 Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I. Eur J Med Genet 2011 0.77
23 Expression of Trps1 during mouse embryonic development. Gene Expr Patterns 2002 0.77
24 Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation. Ren Fail 2014 0.75
25 A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome. Clin Dysmorphol 2014 0.75