PubRank

Jürgen Kohlhase

Author PubWeight™ 64.24‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 2010 3.82
2 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum 2010 2.50
3 Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients. Hum Mutat 2009 1.85
4 Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet 2012 1.57
5 Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. J Invest Dermatol 2006 1.39
6 Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat 2011 1.36
7 Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. Hum Mol Genet 2003 1.25
8 Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet 2011 1.24
9 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
10 Array CGH in molecular diagnosis of mental retardation - A study of 150 Finnish patients. Am J Med Genet A 2010 1.12
11 Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. Am J Hum Genet 2009 1.11
12 Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene. J Invest Dermatol 2006 1.10
13 Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation. Am J Med Genet A 2010 1.09
14 Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome. Eur J Hum Genet 2007 1.06
15 SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. Hum Mutat 2005 1.05
16 Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. J Clin Endocrinol Metab 2007 1.02
17 Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat 2007 1.01
18 Sall1, sall2, and sall4 are required for neural tube closure in mice. Am J Pathol 2008 0.99
19 Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nat Genet 2008 0.98
20 Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. Hum Mutat 2006 0.97
21 Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. J Med Genet 2011 0.94
22 Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. Genet Med 2007 0.94
23 Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. Hum Mutat 2006 0.93
24 CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance. Hum Genet 2014 0.93
25 Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum Mol Genet 2011 0.92
26 RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Am J Hum Genet 2009 0.92
27 Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein. BMC Med Genet 2008 0.92
28 Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation. Hum Mutat 2011 0.91
29 The effect of tau genotype on clinical features in FTDP-17. Parkinsonism Relat Disord 2005 0.91
30 Synergistic cooperation of Sall4 and Cyclin D1 in transcriptional repression. Biochem Biophys Res Commun 2007 0.90
31 Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes. Am J Med Genet A 2006 0.88
32 The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. J Med Genet 2013 0.87
33 An emerging 1q21.1 deletion-associated neurodevelopmental phenotype. J Child Neurol 2011 0.87
34 Epidermolysis bullosa simplex ogna revisited. J Invest Dermatol 2012 0.87
35 A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome. J Dermatol Sci 2008 0.87
36 Sall4 isoforms act during proximal-distal and anterior-posterior axis formation in the mouse embryo. Genesis 2008 0.87
37 SALL4 is directly activated by TCF/LEF in the canonical Wnt signaling pathway. Biochem Biophys Res Commun 2006 0.86
38 A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features. Eur J Med Genet 2012 0.85
39 Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay. Hum Mutat 2007 0.85
40 Intracerebral hemorrhage in a young man. CMAJ 2010 0.84
41 Tetra-amelia and lung hypo/aplasia syndrome: new case report and review. Am J Med Genet A 2008 0.83
42 Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. Hum Mol Genet 2012 0.83
43 Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. J Invest Dermatol 2010 0.83
44 A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome. Hum Genet 2006 0.83
45 Type 1 segmental Galli-Galli disease resulting from a previously unreported keratin 5 mutation. J Invest Dermatol 2012 0.82
46 Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother? Am J Med Genet A 2007 0.82
47 Mutation of SALL2 causes recessive ocular coloboma in humans and mice. Hum Mol Genet 2014 0.81
48 Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex. J Invest Dermatol 2006 0.81
49 Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1. Biochem Biophys Res Commun 2002 0.81
50 Defining the heterochromatin localization and repression domains of SALL1. Biochim Biophys Acta 2006 0.79
51 Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1. Am J Med Genet A 2010 0.79
52 SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect. Am J Med Genet A 2006 0.79
53 Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. Am J Med Genet A 2004 0.79
54 Spongiform encephalopathy in siblings with no evidence of protease-resistant prion protein or a mutation in the prion protein gene. J Neurol 2013 0.78
55 Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene. Acta Derm Venereol 2006 0.77
56 Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon? Am J Med Genet A 2007 0.77
57 Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient. Am J Med Genet A 2006 0.76
58 Pilomatricomas in Rubinstein-Taybi syndrome. J Dtsch Dermatol Ges 2015 0.76
59 Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers. Am J Med Genet A 2009 0.76
60 Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome. JIMD Rep 2013 0.76
61 Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins. Am J Med Genet A 2008 0.76
62 Five patients with novel overlapping interstitial deletions in 8q22.2q22.3. Am J Med Genet A 2011 0.76
63 Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients. J Neurol 2009 0.76
64 A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. Am J Med Genet A 2006 0.76
65 Somatic mosaicism and variable expression of Townes-Brocks syndrome. Am J Med Genet 2002 0.75
66 Extensive postzygotic mosaicism for a novel keratin 10 mutation in epidermolytic ichthyosis. Acta Derm Venereol 2014 0.75
67 Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations. Eur J Dermatol 2011 0.75
68 A novel mutation of the arylsulfatase A gene in late-onset metachromatic leukodystrophy. J Clin Psychiatry 2009 0.75
69 Absent optic chiasm presenting with horizontal nystagmus. J Pediatr Ophthalmol Strabismus 2010 0.75
70 Hoffman syndrome: New patients, new insights. Am J Med Genet A 2010 0.75
71 Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia. Clin Dysmorphol 2005 0.75
72 A family with Duane anomaly and distal limb abnormalities: a further family with the arthrogryposis-ophthalmoplegia syndrome. Am J Med Genet A 2005 0.75
73 Stüve-Wiedemann syndrome in a neonate. Pediatr Int 2015 0.75