Published in Am J Med Genet A on December 15, 2005
TRIM family proteins and their emerging roles in innate immunity. Nat Rev Immunol (2008) 4.21
Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet (2012) 1.50
A missense mutation in CASK causes FG syndrome in an Italian family. Am J Hum Genet (2009) 1.12
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. Am J Hum Genet (2009) 1.11
Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22. Clin Genet (2011) 1.08
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition. Eur J Hum Genet (2009) 0.94
Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome. Mol Genet Genomic Med (2015) 0.75
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet (2006) 5.59
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet (2004) 4.20
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet (2005) 3.87
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat (2007) 3.52
Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia. Nat Genet (2007) 3.48
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet (2011) 3.43
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet (2010) 2.76
Elements of morphology: standard terminology for the periorbital region. Am J Med Genet A (2009) 2.53
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet (2007) 2.51
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet (2009) 2.50
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A (2011) 2.11
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem (2005) 2.05
Annals of morphology. Atavisms: phylogenetic Lazarus? Am J Med Genet A (2013) 1.98
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications. Eur J Hum Genet (2006) 1.93
Obesity: genetic, molecular, and environmental aspects. Am J Med Genet A (2007) 1.85
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res (2008) 1.81
A novel t(6;14)(q25-q27;q32) in acute myelocytic leukemia involves the BCL11B gene. Cancer Genet Cytogenet (2004) 1.77
CFC syndrome. Am J Med Genet A (2003) 1.74
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet (2011) 1.74
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet (2007) 1.72
TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders. Am J Med Genet (2002) 1.69
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat (2007) 1.68
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nat Genet (2012) 1.61
Oncogenomic analysis of mycosis fungoides reveals major differences with Sezary syndrome. Blood (2008) 1.56
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. J Biol Chem (2007) 1.53
Novel and highly recurrent chromosomal alterations in Sézary syndrome. Cancer Res (2008) 1.51
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics (2006) 1.50
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. Hugo J (2010) 1.50
A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr Suppl (2007) 1.49
X chromosome array-CGH for the identification of novel X-linked mental retardation genes. Eur J Med Genet (2005) 1.47
CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior. Hum Mol Genet (2003) 1.43
Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects. Am J Med Genet A (2014) 1.39
The role of EXT1 in nonhereditary osteochondroma: identification of homozygous deletions. J Natl Cancer Inst (2007) 1.37
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. Hum Mol Genet (2005) 1.37
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Am J Med Genet A (2007) 1.31
Insights from genomic microarrays into structural chromosome rearrangements. Am J Med Genet A (2005) 1.29
Perrault syndrome: evidence for progressive nervous system involvement. Am J Med Genet A (2004) 1.29
Reconstruction of large cranial defects in nonimmunosuppressed experimental design with human dental pulp stem cells. J Craniofac Surg (2008) 1.28
Germline DNA copy number variation in familial and early-onset breast cancer. Breast Cancer Res (2012) 1.24
Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex genetic alterations in cervical cancer. BMC Genomics (2007) 1.24
Structural variation in the human genome: the impact of copy number variants on clinical diagnosis. Genet Med (2007) 1.21
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. Am J Med Genet A (2013) 1.20
Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion. Eur J Hum Genet (2007) 1.18
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. Am J Hum Genet (2012) 1.17
Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. Am J Med Genet A (2004) 1.15
UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. Am J Hum Genet (2006) 1.14
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genet (2011) 1.13
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain (2010) 1.13
Array-based comparative genomic hybridization analysis reveals recurrent chromosomal alterations and prognostic parameters in primary cutaneous large B-cell lymphoma. J Clin Oncol (2005) 1.12
Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. Eur J Hum Genet (2004) 1.12
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. Am J Hum Genet (2009) 1.11
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. Mol Genet Metab (2007) 1.11
Prenatal death in Fraser syndrome. Fetal Pediatr Pathol (2006) 1.11
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. Ann Neurol (2005) 1.11
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. Proc Natl Acad Sci U S A (2007) 1.11
Array comparative genomic hybridization with cyanin cis-platinum-labeled DNAs. Biotechniques (2004) 1.09
Mutations in collagen 18A1 and their relevance to the human phenotype. An Acad Bras Cienc (2006) 1.09
Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH. Am J Med Genet A (2007) 1.08
Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities. Am J Med Genet A (2010) 1.08
Germline copy number variations and cancer predisposition. Future Oncol (2012) 1.07
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat (2009) 1.07
Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. Mol Cell (2013) 1.06
Clinical variability in calpainopathy: what makes the difference? Eur J Hum Genet (2002) 1.06
Genomic profiling by DNA amplification of laser capture microdissected tissues and array CGH. Nucleic Acids Res (2004) 1.05
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. Am J Med Genet A (2005) 1.04
Further evidence of the importance of RIT1 in Noonan syndrome. Am J Med Genet A (2014) 1.03
Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries. Eur J Med Genet (2011) 1.03
Fat grafts supplemented with adipose-derived stromal cells in the rehabilitation of patients with craniofacial microsomia. Plast Reconstr Surg (2013) 1.02
Functional vascular endothelial growth factor -634G>C SNP is associated with proliferative diabetic retinopathy: a case-control study in a Brazilian population of European ancestry. Diabetes Care (2007) 1.02
Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains. Hum Mutat (2014) 1.02
Chromosomal instability in MYH- and APC-mutant adenomatous polyps. Cancer Res (2006) 1.02
Parental origin of mutations in sporadic cases of Treacher Collins syndrome. Eur J Hum Genet (2003) 1.02
Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes. Ann Hum Genet (2009) 1.01
Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. Eur J Med Genet (2011) 1.01
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet (2012) 1.01
Stem cell proliferation under low intensity laser irradiation: a preliminary study. Lasers Surg Med (2008) 1.01
Primary synovial sarcoma of the heart: a cytogenetic and molecular genetic analysis combining RT-PCR and COBRA-FISH of a case with a complex karyotype. Mod Pathol (2004) 1.00
Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women. Am J Med Genet A (2006) 1.00
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome. Am J Med Genet A (2011) 1.00
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. Eur J Hum Genet (2008) 1.00
PAK3 related mental disability: further characterization of the phenotype. Am J Med Genet A (2007) 0.99
A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction. Gene (2005) 0.99
Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9. Am J Med Genet A (2003) 0.99
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet (2007) 0.99
Documentation of anomalies not previously described in Fryns syndrome. Am J Med Genet A (2003) 0.99
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome. Eur J Hum Genet (2004) 0.99
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia. Orphanet J Rare Dis (2013) 0.98
Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. Am J Med Genet A (2007) 0.97
Cellular/intramuscular myxoma and grade I myxofibrosarcoma are characterized by distinct genetic alterations and specific composition of their extracellular matrix. J Cell Mol Med (2009) 0.96
Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells. Mol Med (2007) 0.95