PubRank

T M Strom

Author PubWeight™ 43.95‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet 2000 3.87
2 The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. J Clin Endocrinol Metab 2001 3.55
3 Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23. Kidney Int 2001 3.44
4 An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 1994 2.57
5 Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 1994 2.49
6 A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree. Mol Psychiatry 2001 2.27
7 Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet 2008 2.09
8 Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001 2.06
9 Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). Hum Mol Genet 1997 1.64
10 Identification of coexpressed gene clusters in a comparative analysis of transcriptome and proteome in mouse tissues. Proc Natl Acad Sci U S A 2005 1.28
11 Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing. Leukemia 2011 1.20
12 Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. Genome Res 1997 1.19
13 Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. Neurology 2006 1.06
14 A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures. Neurology 2009 1.05
15 Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. Mol Genet Metab 2001 1.02
16 A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. Mol Endocrinol 1997 1.02
17 Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse. Eur J Hum Genet 1998 0.98
18 Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene. Gene 2000 0.90
19 Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene. Hum Mol Genet 1998 0.88
20 A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 1998 0.84
21 Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. Clin Genet 1998 0.80
22 X-linked congenital adrenal hypoplasia: new mutations and long-term follow-up in three patients. Clin Endocrinol (Oxf) 2000 0.79
23 A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. Neurogenetics 2008 0.79
24 Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes. Neurogenetics 2006 0.78
25 Allelic imbalance at intragenic markers of Tbx18 is a hallmark of murine osteosarcoma. Carcinogenesis 2003 0.78
26 Estrone and estradiol concentrations in human ovaries, testes, and adrenals during the first two years of life. J Clin Endocrinol Metab 1987 0.78
27 Loss of renal phosphate wasting in a child with autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation. Horm Res 2001 0.77
28 Combination of high-performance liquid chromatography and radioimmunoassay for the measurement of urodilatin and alpha-hANP in the urine of healthy males. Life Sci 1991 0.77
29 Platelet receptors for atrial natriuretic peptide in man. Life Sci 1987 0.77
30 Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. Clin Genet 2014 0.77
31 Remarkable long-term prognosis and excellent growth in kidney-transplant children under cyclosporine monotherapy. Transplant Proc 1991 0.77
32 Effects of a bolus dose of atrial natriuretic factor in young and elderly volunteers. Eur J Clin Invest 1989 0.76
33 [29-year-old patient with gynecomastia and small testis]. Internist (Berl) 1999 0.75
34 Plasma atrial natriuretic peptide levels in children with cardiac diseases: correlation with cGMP levels and haemodynamic parameters. Horm Res 1987 0.75
35 [OP.LB01.12] CACNA1H MUTATIONS ARE ASSOCIATED WITH YOUNG ONSET AND FAMILIAL FORMS OF PRIMARY ALDOSTERONISM. J Hypertens 2016 0.75
36 Influence of diurnal rhythm, posture and right atrial size on plasma atrial natriuretic peptide levels. Z Kardiol 1988 0.75
37 Isolation and fine mapping of (CA)n repeats from the Xp11.23 and Xp11.4 region. Hum Mol Genet 1994 0.75