PubRank

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Author PubWeight™ 24.83‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nat Genet 2000 3.72
2 Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet 2000 2.10
3 Human monoamine oxidase A and B genes map to Xp 11.23 and are deleted in a patient with Norrie disease. Genomics 1989 2.10
4 Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet 1994 1.45
5 Missense rhodopsin mutation in a family with recessive RP. Nat Genet 1994 1.16
6 Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp. Hum Genet 1989 1.13
7 Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families. Genomics 1994 0.99
8 Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet 1994 0.95
9 Comparative measurements of airway resistance. Respiration 1975 0.92
10 Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man. Am J Med Genet 1998 0.91
11 X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22. Hum Genet 1986 0.90
12 Five novel mutations in the L1CAM gene in families with X linked hydrocephalus. J Med Genet 1996 0.89
13 Multipoint linkage analysis in X-linked juvenile retinoschisis. Clin Genet 1993 0.86
14 [Mutations of the frizzled-4 gene. Their impact on medical care of patients with autosomal dominant exudative vitreoretinopathy]. Ophthalmologe 2008 0.81
15 Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait. Am J Med Genet 1997 0.80
16 A Y/5 translocation in a 45,X male with cri du chat syndrome. Hum Genet 1987 0.79
17 Three novel PAX6 mutations in patients with aniridia. Mol Pathol 2003 0.79
18 Missense mutation (R15W) of the connexin32 gene in a family with X chromosomal Charcot-Marie-Tooth neuropathy with only female family members affected. J Neurol Neurosurg Psychiatry 1997 0.79
19 Disseminated cytomegalovirus infection as initial manifestation of hyper-IgM syndrome in a 15-month-old boy. Eur J Pediatr 2000 0.79
20 Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA. Neuroscience 2005 0.79
21 A kinematic analysis of anticipatory coarticulation in the speech of anterior aphasic subjects using electromagnetic articulography. Brain Lang 1990 0.77
22 Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis. Int J Legal Med 2000 0.77
23 A novel splice-site mutation in the CD40L gene in a patient with X-linked hyper-IgM syndrome. Hum Mutat 1996 0.75
24 Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation. Clin Genet 2001 0.75
25 Short stature in a mother and daughter with terminal deletion of Xp22.3. Am J Med Genet 1996 0.75
26 [Inflammatory stage of incontinentia pigmenti (Bloch-Sulzberger syndrome)]. Hautarzt 2006 0.75
27 [Anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine-Syndrom)]. Hautarzt 2006 0.75
28 Hydrops fetalis in three male fetuses of a female with incontinentia pigmenti. Prenat Diagn 2001 0.75
29 Posthumous diagnosis of X-linked retinoschisis using DNA analysis. Ophthalmic Paediatr Genet 1990 0.75
30 Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis. Hum Genet 1997 0.75
31 [Bronchofiberscopic catheter and flexible needle suction biopsies in extraluminal and peripheral lung lesion]. Prax Klin Pneumol 1983 0.75
32 [Hereditary cardiac amyloidosis with transthyretin mutations. A cause of sudden death ]. Herz 2012 0.75
33 New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3. Am J Med Genet 1996 0.75
34 [Indirect genotype analysis as a diagnostic procedure in Marfan syndrome]. Z Kardiol 2000 0.75
35 [An electronic digital spirometer (author's transl)]. Prax Pneumol 1975 0.75