PubRank

Peter Wieacker

Author PubWeight™ 47.22‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012 8.42
2 Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet 2004 1.78
3 Novel associations in disorders of sex development: findings from the I-DSD Registry. J Clin Endocrinol Metab 2013 1.76
4 Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. PLoS One 2011 1.75
5 Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome. Fertil Steril 2010 1.44
6 Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet 2008 1.40
7 WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. Am J Hum Genet 2009 1.23
8 Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Hum Mutat 2008 1.18
9 Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). Hum Mutat 2005 1.17
10 Gastrointestinal stromal tumors of the vermiform appendix: clinicopathologic, immunohistochemical, and molecular study of 2 cases with literature review. Hum Pathol 2008 1.03
11 Epithelioid gastric stromal tumours of the antrum in young females with the Carney triad: a report of three new cases with mutational analysis and comparative genomic hybridization. Oncol Rep 2007 1.01
12 Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic. Eur J Hum Genet 2007 1.00
13 p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. Ann Neurol 2005 0.96
14 BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure. Am J Obstet Gynecol 2007 0.94
15 The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function. BMC Med Genet 2010 0.93
16 Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele. Prenat Diagn 2012 0.93
17 Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development. Eur J Endocrinol 2012 0.89
18 Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males. Eur J Hum Genet 2013 0.89
19 Establishment and characterization of the permanent human cell line C3842 derived from a secondary chondrosarcoma in Ollier's disease. Virchows Arch 2005 0.87
20 Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal. Sex Dev 2010 0.87
21 Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p. Am J Med Genet A 2006 0.87
22 Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer. Hum Mol Genet 2012 0.86
23 ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Am J Hum Genet 2013 0.85
24 Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2. Neurogenetics 2003 0.85
25 High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11). Genes Chromosomes Cancer 2006 0.83
26 Ultrastructural characterization of mouse embryonic stem cell-derived oocytes and granulosa cells. Stem Cells Dev 2011 0.82
27 Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome. Eur J Endocrinol 2009 0.82
28 Further insights into the role of the annexin A5 M2 haplotype as recurrent pregnancy loss factor, assessing timing of miscarriage and partner risk. Fertil Steril 2013 0.82
29 Dispermic chimerism identified during blood group determination and HLA typing. Transfusion 2006 0.82
30 Complete molecular remission in a patient with Philadelphia-chromosome positive acute myeloid leukemia after conventional therapy and imatinib. Haematologica 2004 0.81
31 Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3). Sex Dev 2015 0.81
32 Novel and recurrent mutations in patients with androgen insensitivity syndromes. Horm Res 2005 0.81
33 Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family. Prenat Diagn 2008 0.80
34 Gastrointestinal stromal tumor presenting as a rectovaginal mass. Clinicopathologic and molecular-genetic characterization of a rare tumor with a literature review. Hum Pathol 2011 0.80
35 Mosaicism for an unbalanced Y;21 translocation in an infertile man: a case report. J Assist Reprod Genet 2013 0.79
36 The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. Am J Med Genet A 2007 0.79
37 Genotype/phenotype analysis in a patient with pure and complete trisomy 12p. Am J Med Genet A 2004 0.79
38 Gain of androgen receptor gene copies in primary prostate cancer due to X chromosome polysomy. Prostate 2004 0.78
39 Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome. Prenat Diagn 2004 0.78
40 Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb. Muscle Nerve 2002 0.77
41 A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation. Neurogenetics 2005 0.77
42 Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC. Eur J Pediatr 2006 0.76
43 The retinol acid receptor B gene is hypermethylated in patients with familial partial lipodystrophy. J Mol Endocrinol 2007 0.76
44 Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7). Appl Clin Genet 2008 0.75
45 Further delineation of Wittwer syndrome and refinement of the mapping region. Am J Med Genet A 2003 0.75
46 Pseudotrisomy 13: clinical findings and genetic implications. Fetal Diagn Ther 2005 0.75
47 Jumping translocation of 1q in a BCR/ABL-positive acute lymphoblastic leukemia. Cancer Genet Cytogenet 2005 0.75
48 Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization. Sex Dev 2017 0.75
49 New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria. Sex Dev 2017 0.75
50 Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs. J Steroid Biochem Mol Biol 2006 0.75
51 Novel chromosomal aberrations in a recurrent malignant meningioma. Cancer Genet Cytogenet 2007 0.75