PubRank

Ken McElreavey

Author PubWeight™ 59.30‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 2006 9.99
2 Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor. Am J Hum Genet 2004 3.05
3 Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability. Am J Med Genet A 2005 2.01
4 Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med 2009 1.88
5 Promoter variation in the DC-SIGN-encoding gene CD209 is associated with tuberculosis. PLoS Med 2006 1.42
6 Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am J Hum Genet 2010 1.35
7 Y-chromosome analysis in Egypt suggests a genetic regional continuity in Northeastern Africa. Hum Biol 2002 1.31
8 Mutations of the GREAT gene cause cryptorchidism. Hum Mol Genet 2002 1.27
9 Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature. J Pediatr Endocrinol Metab 2005 1.24
10 Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes. Am J Hum Genet 2006 1.23
11 An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia. J Clin Endocrinol Metab 2004 1.19
12 The Y chromosome and male fertility and infertility. Int J Androl 2003 1.17
13 Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort. Acta Derm Venereol 2007 1.06
14 Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination. Genomics 2002 0.99
15 Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts. PLoS One 2009 0.98
16 Clinical, biological and genetic analysis of anorchia in 26 boys. PLoS One 2011 0.96
17 AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men. Asian J Androl 2007 0.95
18 GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure. Fertil Steril 2006 0.92
19 Loss-of-function mutation in GATA4 causes anomalies of human testicular development. Proc Natl Acad Sci U S A 2011 0.92
20 A deletion of a novel heat shock gene on the Y chromosome associated with azoospermia. Mol Hum Reprod 2005 0.92
21 Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. PLoS One 2011 0.91
22 Paternal age over 40 years: the "amber light" in the reproductive life of men? J Androl 2003 0.91
23 Association of spermatogenic failure with the b2/b3 partial AZFc deletion. PLoS One 2012 0.89
24 Y-chromosome AZFc structural architecture and relationship to male fertility. Fertil Steril 2008 0.87
25 Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls. PLoS One 2010 0.87
26 Effects of transmission of Y chromosome AZFc deletions. Lancet 2002 0.86
27 SRY gene expression in the ovotestes of XX true hermaphrodites. J Urol 2002 0.85
28 Association of the MTHFR A1298C variant with unexplained severe male infertility. PLoS One 2012 0.85
29 Novel mutations involving the INSL3 gene associated with cryptorchidism. J Urol 2007 0.84
30 Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. Fertil Steril 2009 0.84
31 [NR5A1 and ovarian failure]. Med Sci (Paris) 2009 0.83
32 Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome. Fertil Steril 2009 0.81
33 Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys. PLoS One 2013 0.81
34 Consanguinity and disorders of sex development. Hum Hered 2014 0.81
35 Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis. Sex Dev 2016 0.81
36 Inhibin B: a marker for the functional state of the seminiferous epithelium in patients with azoospermia factor C microdeletions. J Clin Endocrinol Metab 2002 0.80
37 46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred. Am J Med Genet A 2003 0.80
38 No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population. Horm Res 2008 0.79
39 Y-chromosomal STR haplotypes in Berber and Arabic-speaking populations from Morocco. Forensic Sci Int 2004 0.79
40 A cost-effective screening test for detecting AZF microdeletions on the human Y chromosome. Genet Test 2002 0.78
41 Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1. Am J Hum Genet 2007 0.78
42 Transcriptional diversity of DMRT1 (dsx- and mab3-related transcription factor 1) in human testis. Cell Res 2006 0.78
43 Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development. Adv Exp Med Biol 2011 0.78
44 The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews. Fam Cancer 2005 0.78
45 Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development. J Clin Endocrinol Metab 2007 0.78
46 Report of fertility in woman with predominantly 46,XY karyotype in family with multiple disorders of sexual development: review of prismatic case. Mt Sinai J Med 2008 0.77
47 Partial microdeletions in the Y-chromosome AZFc region are not a significant risk factor for spermatogenic impairment in Tunisian infertile men. Genet Test Mol Biomarkers 2012 0.77
48 Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome. Reprod Biomed Online 2012 0.76
49 First study of microdeletions in the Y chromosome of Algerian infertile men with idiopathic oligo- or azoospermia. Urol Int 2013 0.76
50 Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations. PLoS One 2012 0.76
51 Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele. J Med Genet 2012 0.75
52 Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center. Eur J Pediatr 2014 0.75
53 Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome. Sex Dev 2017 0.75
54 Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development. Sex Dev 2016 0.75
55 Molecular characterization of a bovine Y-specific DNA sequence conserved in taurine and zebu breeds. DNA Seq 2006 0.75
56 Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development. Sex Dev 2016 0.75
57 Next generation sequencing for disorders of sex development. Endocr Dev 2014 0.75
58 Specific aspects of consanguinity: some examples from the Tunisian population. Hum Hered 2014 0.75