Published in Am J Hum Genet on October 08, 2010
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Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet (2006) 9.99
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Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. J Invest Dermatol (2013) 2.74
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In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene. Am J Hum Genet (2003) 2.21
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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
Sampling and Definitions of Placental Lesions: Amsterdam Placental Workshop Group Consensus Statement. Arch Pathol Lab Med (2016) 1.96
Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med (2009) 1.88
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The antifungal vaccine derived from the recombinant N terminus of Als3p protects mice against the bacterium Staphylococcus aureus. Infect Immun (2008) 1.77
Draft genome of the kiwifruit Actinidia chinensis. Nat Commun (2013) 1.72
Ketoconazole in Cushing's disease: is it worth a try? J Clin Endocrinol Metab (2014) 1.72
Influence of sickle cell disease and treatment with hydroxyurea on sperm parameters and fertility of human males. Haematologica (2008) 1.71
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An acetylation/deacetylation-SUMOylation switch through a phylogenetically conserved psiKXEP motif in the tumor suppressor HIC1 regulates transcriptional repression activity. Mol Cell Biol (2007) 1.69
Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab (2002) 1.68
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KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet (2011) 1.62
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet (2012) 1.61
ERG is a megakaryocytic oncogene. Cancer Res (2009) 1.57
Postmortem cardiovascular magnetic resonance imaging in fetuses and children: a masked comparison study with conventional autopsy. Circulation (2014) 1.56
Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development. J Invest Dermatol (2012) 1.56
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Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience. J Clin Endocrinol Metab (2006) 1.53
Mutations in the p53 tumor suppressor gene and early onset breast cancer. Cancer Biol Ther (2002) 1.52
Assessment of ischemia-modified albumin levels for emergency room diagnosis of acute coronary syndrome. Int J Cardiol (2010) 1.49
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. Am J Hum Genet (2012) 1.48
Protein disulfide isomerase inhibitors constitute a new class of antithrombotic agents. J Clin Invest (2012) 1.45
Self-inactivating gammaretroviral vectors for gene therapy of X-linked severe combined immunodeficiency. Mol Ther (2008) 1.44
SAP gene transfer restores cellular and humoral immune function in a murine model of X-linked lymphoproliferative disease. Blood (2012) 1.44
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Dense B cell infiltrates in paediatric renal transplant biopsies are predictive of allograft loss. Pediatr Transplant (2008) 1.43
Long noncoding RNAs in development and disease of the central nervous system. Trends Genet (2013) 1.42
DNA origami as a carrier for circumvention of drug resistance. J Am Chem Soc (2012) 1.42
miR-135a Suppresses Calcification in Senescent VSMCs by Regulating KLF4/STAT3 Pathway. Curr Vasc Pharmacol (2016) 1.42
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Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure. Eur J Endocrinol (2006) 1.36
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat (2008) 1.35
Hierarchical modeling for rare event detection and cell subset alignment across flow cytometry samples. PLoS Comput Biol (2013) 1.35
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. J Clin Endocrinol Metab (2008) 1.34
Wild-type p53-induced phosphatase 1 dephosphorylates histone variant gamma-H2AX and suppresses DNA double strand break repair. J Biol Chem (2010) 1.34
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet (2013) 1.32
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet (2003) 1.32
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Cell death in development: shaping the embryo. Histochem Cell Biol (2006) 1.30
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Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study. Hum Reprod (2007) 1.27
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Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis. Am J Med Genet A (2006) 1.23
The impact of molecular genetic diagnosis on the management of women with hCG-producing malignancies. Gynecol Oncol (2007) 1.23