Published in Genet Med on July 01, 2011
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The FMR1 premutation and reproduction. Fertil Steril (2006) 3.85
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Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71
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A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat (2013) 2.07
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Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol (2010) 1.98
A study of the distributional characteristics of FMR1 transcript levels in 238 individuals. Hum Genet (2004) 1.88
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet (2004) 1.88
Identification of disease genes by whole genome CGH arrays. Hum Mol Genet (2005) 1.85
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet (2009) 1.84
C677T methylenetetrahydrofolate reductase polymorphism interferes with the effects of folic acid and zinc sulfate on sperm concentration. Fertil Steril (2003) 1.82
Assessment of competence and progressive independence in postgraduate clinical training. Med Educ (2009) 1.81
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Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat (2007) 1.68
Decreased androgen concentrations and diminished general and sexual well-being in women with premature ovarian failure. Menopause (2008) 1.68
New insights into human nondisjunction of chromosome 21 in oocytes. PLoS Genet (2008) 1.68
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Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population. Circ Cardiovasc Genet (2012) 1.57
High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet (2004) 1.55
High-resolution DNA copy number and gene expression analyses distinguish chromophobe renal cell carcinomas and renal oncocytomas. BMC Cancer (2009) 1.55
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet (2010) 1.53
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. Am J Hum Genet (2003) 1.52
The curative effect of a second curettage in persistent trophoblastic disease: a retrospective cohort survey. Gynecol Oncol (2005) 1.49
Genome-wide array-based comparative genomic hybridization reveals multiple amplification targets and novel homozygous deletions in pancreatic carcinoma cell lines. Cancer Res (2004) 1.49
Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution. Hum Mol Genet (2003) 1.47
Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene. Cancer Res (2006) 1.41
Loss of a small region around the PTEN locus is a major chromosome 10 alteration in prostate cancer xenografts and cell lines. Genes Chromosomes Cancer (2004) 1.41
A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey. Turk J Pediatr (2010) 1.40
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet (2012) 1.40
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. Acta Neuropathol (2011) 1.39
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Am J Hum Genet (2005) 1.38
A detailed cost analysis of in vitro fertilization and intracytoplasmic sperm injection treatment. Fertil Steril (2007) 1.38
Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med (2008) 1.36
The National Down Syndrome Project: design and implementation. Public Health Rep (2007) 1.35
Expression of the transcription factor Ets-1 is an independent prognostic marker for relapse-free survival in breast cancer. Oncogene (2002) 1.34
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet (2008) 1.34
Antimüllerian hormone predicts ovarian responsiveness, but not embryo quality or pregnancy, after in vitro fertilization or intracyoplasmic sperm injection. Fertil Steril (2006) 1.31
Mutations in the human TBX4 gene cause small patella syndrome. Am J Hum Genet (2004) 1.31
No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50. Am J Hum Genet (2008) 1.29
Histone deacetylase inhibitors reverse SS18-SSX-mediated polycomb silencing of the tumor suppressor early growth response 1 in synovial sarcoma. Cancer Res (2008) 1.28
Functional characterization of human RSK4, a new 90-kDa ribosomal S6 kinase, reveals constitutive activation in most cell types. J Biol Chem (2005) 1.28
Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range. Am J Hum Genet (2002) 1.25
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. Am J Med Genet A (2008) 1.24
Association between maternal age and meiotic recombination for trisomy 21. Am J Hum Genet (2004) 1.23
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nat Genet (2002) 1.23
Fragile X analysis of 1112 prenatal samples from 1991 to 2010. Prenat Diagn (2011) 1.23
The origin and nature of tightly clustered BTG1 deletions in precursor B-cell acute lymphoblastic leukemia support a model of multiclonal evolution. PLoS Genet (2012) 1.23
Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects. Hum Genet (2008) 1.22
Empowering patients undergoing in vitro fertilization by providing Internet access to medical data. Fertil Steril (2007) 1.21
Examination of FMR1 transcript and protein levels among 74 premutation carriers. J Hum Genet (2009) 1.20
Mutations in MED12 cause X-linked Ohdo syndrome. Am J Hum Genet (2013) 1.20
Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. Am J Med Genet A (2013) 1.19
12p-amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGH. Oncogene (2003) 1.18
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects. Dis Model Mech (2011) 1.18
Effects of folic acid and zinc sulfate on male factor subfertility: a double-blind, randomized, placebo-controlled trial. Fertil Steril (2002) 1.17
Development and validation of the Arizona Cognitive Test Battery for Down syndrome. J Neurodev Disord (2010) 1.15
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome. Genet Epidemiol (2010) 1.14
Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers. Behav Genet (2008) 1.12
Fertility in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Obstet Gynecol Surv (2003) 1.12
Chromosome 22q11 deletion and pachygyria characterized by array-based comparative genomic hybridization. Am J Med Genet A (2004) 1.12
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. Eur J Hum Genet (2011) 1.09
Consensus characterization of 16 FMR1 reference materials: a consortium study. J Mol Diagn (2007) 1.09
Secondary ovarian malignancies: frequency, origin, and characteristics. Int J Gynecol Cancer (2009) 1.09
Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines. Genet Med (2008) 1.08
Recurrence and variability of germline EPCAM deletions in Lynch syndrome. Hum Mutat (2011) 1.07
CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. Am J Med Genet A (2006) 1.07
Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients. Int J Cancer (2011) 1.07
Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains. Nucleic Acids Res (2004) 1.06
New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS). Neurogenetics (2011) 1.06
The synovial-sarcoma-associated SS18-SSX2 fusion protein induces epigenetic gene (de)regulation. Cancer Res (2006) 1.06
Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization. Blood (2004) 1.04
Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature. Genet Med (2009) 1.04
Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics. Hum Mutat (2013) 1.04
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation. Eur J Hum Genet (2005) 1.04
Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome. Genet Epidemiol (2004) 1.03
Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice. Hum Mol Genet (2012) 1.03
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). Am J Med Genet A (2012) 1.02
Preconception counseling improves folate status of women planning pregnancy. Obstet Gynecol (2002) 1.01
Role of gain of 12p in germ cell tumour development. APMIS (2003) 1.01
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. Am J Hum Genet (2012) 1.01