Published in Eur J Med Genet on November 20, 2010
Structural diversity and African origin of the 17q21.31 inversion polymorphism. Nat Genet (2012) 1.62
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet (2012) 1.40
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. Nat Genet (2012) 1.25
Of mice and men: molecular genetics of congenital heart disease. Cell Mol Life Sci (2013) 1.10
The clinical significance of small copy number variants in neurodevelopmental disorders. J Med Genet (2014) 0.93
Regulation of human MAPT gene expression. Mol Neurodegener (2015) 0.90
Primate segmental duplication creates novel promoters for the LRRC37 gene family within the 17q21.31 inversion polymorphism region. Genome Res (2012) 0.85
Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism. Eur J Hum Genet (2012) 0.84
KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome. BMC Med Genet (2015) 0.83
Complex phenotype associated with 17q21.31 microdeletion. Mol Syndromol (2013) 0.82
Molecular and clinical delineation of the 17q22 microdeletion phenotype. Eur J Hum Genet (2013) 0.80
An evolutionary roadmap to the microtubule-associated protein MAP Tau. BMC Genomics (2016) 0.77
Generation of a new transgenic mouse model for assessment of tau gene silencing therapies. Alzheimers Res Ther (2016) 0.75
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. Eur J Hum Genet (2015) 0.75
Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutations. Front Aging Neurosci (2015) 0.75
Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition. PLoS Genet (2017) 0.75
Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet (2004) 7.69
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet (2004) 5.15
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Chromosome instability is common in human cleavage-stage embryos. Nat Med (2009) 3.85
Iron regulates phosphorylation of Smad1/5/8 and gene expression of Bmp6, Smad7, Id1, and Atoh8 in the mouse liver. Blood (2008) 3.71
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Congenital glutamine deficiency with glutamine synthetase mutations. N Engl J Med (2005) 3.24
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet (2009) 3.01
Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. J Exp Med (2007) 2.85
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry (2009) 2.82
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Holoprosencephaly. Orphanet J Rare Dis (2007) 2.63
Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome. Am J Hum Genet (2006) 2.63
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr (2011) 2.57
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet (2002) 2.39
DNA methylation in glioblastoma: impact on gene expression and clinical outcome. BMC Genomics (2010) 2.32
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24
Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice. J Neurosci (2005) 2.20
Phenotypic expression in detected C282Y homozygous women depends on body mass index. J Hepatol (2005) 2.15
Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene. J Clin Endocrinol Metab (2002) 2.13
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science (2011) 2.04
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome. Am J Med Genet A (2014) 2.02
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet (2004) 1.98
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. J Neurol Neurosurg Psychiatry (2012) 1.94
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet (2013) 1.91
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet (2007) 1.89
Whole-genome multiple displacement amplification from single cells. Nat Protoc (2006) 1.88
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet (2007) 1.85
Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance. J Am Coll Cardiol (2011) 1.82
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. J Med Genet (2011) 1.81
A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet (2009) 1.80
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet (2008) 1.80
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat (2004) 1.76
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet (2011) 1.74
High risk of malignancy in mosaic variegated aneuploidy syndrome. Am J Med Genet (2002) 1.72
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet (2003) 1.71
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet (2013) 1.70
Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients. Am J Med Genet A (2010) 1.70
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet (2006) 1.69
Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up. Am Heart J (2007) 1.69
Simultaneous analysis of distinct Omics data sets with integration of biological knowledge: Multiple Factor Analysis approach. BMC Genomics (2009) 1.68
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat (2009) 1.67
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. Acta Neuropathol (2008) 1.64
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet (2012) 1.63
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A (2015) 1.60
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int (2008) 1.58
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis (2011) 1.57
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat (2009) 1.57
Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet (2007) 1.56
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet (2007) 1.54
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat Genet (2005) 1.51
Analysis of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet (2010) 1.51
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet (2013) 1.50
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum Mol Genet (2006) 1.50
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum Mutat (2007) 1.48
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat (2009) 1.48
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. Eur J Med Genet (2011) 1.48
HFE based re-evaluation of heterozygous hemochromatosis. Am J Med Genet (2002) 1.47
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet (2002) 1.45
Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders. Hum Mol Genet (2009) 1.45
Another patient with cryptic unbalanced translocation between chromosomes 4q and 18q: evidence by microarray CGH. Am J Med Genet A (2004) 1.45
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet (2008) 1.45
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain (2009) 1.44
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet (2012) 1.44
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum Mutat (2007) 1.44