Published in Am J Hum Genet on January 29, 2007
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet (2009) 3.42
Anophthalmia and microphthalmia. Orphanet J Rare Dis (2007) 2.28
Function of retinoic acid receptors during embryonic development. Nucl Recept Signal (2009) 2.06
Vitamin A metabolism: an update. Nutrients (2011) 1.99
Alveolar capillary dysplasia. Am J Respir Crit Care Med (2011) 1.92
Hepatic stellate cell lipid droplets: a specialized lipid droplet for retinoid storage. Biochim Biophys Acta (2008) 1.89
The retinal pigment epithelium in health and disease. Curr Mol Med (2010) 1.87
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet (2007) 1.86
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet (2007) 1.85
Genetic aspects of human congenital diaphragmatic hernia. Clin Genet (2008) 1.81
Vitamin A in reproduction and development. Nutrients (2011) 1.70
RBP4 disrupts vitamin A uptake homeostasis in a STRA6-deficient animal model for Matthew-Wood syndrome. Cell Metab (2008) 1.64
Signaling by vitamin A and retinol-binding protein regulates gene expression to inhibit insulin responses. Proc Natl Acad Sci U S A (2011) 1.58
Genetic factors in congenital diaphragmatic hernia. Am J Hum Genet (2007) 1.58
Retinoid pathway and cancer therapeutics. Adv Drug Deliv Rev (2010) 1.53
HPLC/UV quantitation of retinal, retinol, and retinyl esters in serum and tissues. Anal Biochem (2008) 1.50
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet (2009) 1.46
Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease. Cell (2015) 1.44
The STRA6 receptor is essential for retinol-binding protein-induced insulin resistance but not for maintaining vitamin A homeostasis in tissues other than the eye. J Biol Chem (2013) 1.31
Retinoid content, visual responses, and ocular morphology are compromised in the retinas of mice lacking the retinol-binding protein receptor, STRA6. Invest Ophthalmol Vis Sci (2012) 1.27
Viral infection and human disease--insights from minimotifs. Front Biosci (2008) 1.26
Signaling by vitamin A and retinol-binding protein in regulation of insulin responses and lipid homeostasis. Biochim Biophys Acta (2011) 1.22
Receptor-mediated cellular uptake mechanism that couples to intracellular storage. ACS Chem Biol (2011) 1.20
Retinol and retinyl esters: biochemistry and physiology. J Lipid Res (2013) 1.19
Acidic retinoids synergize with vitamin A to enhance retinol uptake and STRA6, LRAT, and CYP26B1 expression in neonatal lung. J Lipid Res (2009) 1.18
The neural crest in cardiac congenital anomalies. Differentiation (2012) 1.17
Mapping the membrane topology and extracellular ligand binding domains of the retinol binding protein receptor. Biochemistry (2008) 1.16
Eye development genes and known syndromes. Mol Genet Metab (2011) 1.14
How degrading: Cyp26s in hindbrain development. Dev Dyn (2008) 1.14
An essential ligand-binding domain in the membrane receptor for retinol-binding protein revealed by large-scale mutagenesis and a human polymorphism. J Biol Chem (2008) 1.12
Liver retinol transporter and receptor for serum retinol-binding protein (RBP4). J Biol Chem (2012) 1.10
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. Hum Mol Genet (2015) 1.06
Molecular genetics of congenital diaphragmatic defects. Ann Med (2007) 1.05
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. Am J Hum Genet (2013) 1.04
Delivery of retinoid-based therapies to target tissues. Biochemistry (2007) 1.02
Reverse-phase high-performance liquid chromatography (HPLC) analysis of retinol and retinyl esters in mouse serum and tissues. Methods Mol Biol (2010) 1.02
Downregulation of STRA6 in adipocytes and adipose stromovascular fraction in obesity and effects of adipocyte-specific STRA6 knockdown in vivo. Mol Cell Biol (2014) 1.02
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. PLoS Genet (2011) 1.01
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. J Med Genet (2014) 1.01
Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes. Proc Natl Acad Sci U S A (2012) 1.01
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. Hum Mol Genet (2013) 1.01
ISL1 directly regulates FGF10 transcription during human cardiac outflow formation. PLoS One (2012) 1.01
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet (2014) 0.99
Congenital diaphragmatic hernia and pulmonary hypoplasia: new insights from developmental biology and genetics. Am J Med Genet C Semin Med Genet (2007) 0.98
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype. Hum Mutat (2011) 0.98
RARγ is essential for retinoic acid induced chromatin remodeling and transcriptional activation in embryonic stem cells. J Cell Sci (2012) 0.98
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. Mol Genet Genomic Med (2013) 0.96
Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. Mol Vis (2008) 0.95
The membrane receptor for plasma retinol-binding protein, a new type of cell-surface receptor. Int Rev Cell Mol Biol (2011) 0.94
Altered retinoid uptake and action contributes to cell survival in endometriosis. J Clin Endocrinol Metab (2010) 0.93
ALDH1A2 (RALDH2) genetic variation in human congenital heart disease. BMC Med Genet (2009) 0.92
Retina, retinol, retinal and the natural history of vitamin A as a light sensor. Nutrients (2012) 0.92
Retinol-binding protein 4 and its membrane receptor STRA6 control adipogenesis by regulating cellular retinoid homeostasis and retinoic acid receptor α activity. Mol Cell Biol (2013) 0.92
Metabolism of carotenoids and retinoids related to vision. J Biol Chem (2011) 0.92
A male with unilateral microphthalmia reveals a role for TMX3 in eye development. PLoS One (2010) 0.92
Novel SOX2 partner-factor domain mutation in a four-generation family. Eur J Hum Genet (2009) 0.92
To investigate the necessity of STRA6 upregulation in T cells during T cell immune responses. PLoS One (2013) 0.91
Aberrant distribution of junctional complex components in retinoic acid receptor alpha-deficient mice. Microsc Res Tech (2010) 0.90
A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect. Am J Med Genet A (2010) 0.88
Genetic causes of congenital diaphragmatic hernia. Semin Fetal Neonatal Med (2014) 0.88
Is a regenerative approach viable for the treatment of COPD? Br J Pharmacol (2011) 0.88
The expanding role for retinoid signaling in heart development. ScientificWorldJournal (2008) 0.87
Lower urinary tract development and disease. Wiley Interdiscip Rev Syst Biol Med (2013) 0.87
Vitamin A transport and the transmembrane pore in the cell-surface receptor for plasma retinol binding protein. PLoS One (2013) 0.87
Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia. Clin Genet (2009) 0.87
STRA6 is critical for cellular vitamin A uptake and homeostasis. Hum Mol Genet (2014) 0.86
Kif7 is required for the patterning and differentiation of the diaphragm in a model of syndromic congenital diaphragmatic hernia. Proc Natl Acad Sci U S A (2013) 0.85
Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration. Am J Med Genet A (2009) 0.85
Membrane receptors and transporters involved in the function and transport of vitamin A and its derivatives. Biochim Biophys Acta (2011) 0.84
Vitamin A derivatives as treatment options for retinal degenerative diseases. Nutrients (2013) 0.84
Retinal degeneration in animal models with a defective visual cycle. Drug Discov Today Dis Models (2013) 0.83
Downregulation of STRA6 expression in epidermal keratinocytes leads to hyperproliferation-associated differentiation in both in vitro and in vivo skin models. J Invest Dermatol (2013) 0.83
Stra6, a retinoic acid-responsive gene, participates in p53-induced apoptosis after DNA damage. Cell Death Differ (2013) 0.82
The control of insulin secretion by adipokines: current evidence for adipocyte-beta cell endocrine signalling in metabolic homeostasis. Mamm Genome (2014) 0.82
Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy. Hum Genet (2010) 0.82
New Insights into Congenital Diaphragmatic Hernia - A Surgeon's Introduction to CDH Animal Models. Front Pediatr (2014) 0.81
Chromosome 15q24 microdeletion syndrome. Orphanet J Rare Dis (2012) 0.81
Early retinoic acid deprivation in developing zebrafish results in microphthalmia. Vis Neurosci (2012) 0.81
STRA6: role in cellular retinol uptake and efflux. Hepatobiliary Surg Nutr (2015) 0.80
A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia. J Perinatol (2015) 0.80
Input overload: Contributions of retinoic acid signaling feedback mechanisms to heart development and teratogenesis. Dev Dyn (2015) 0.80
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma. Hum Mol Genet (2016) 0.80
EMBO Retinoids 2011: Mechanisms, biology and pathology of signaling by retinoic acid and retinoic acid receptors. Nucl Recept Signal (2012) 0.79
Techniques to study specific cell-surface receptor-mediated cellular vitamin A uptake. Methods Mol Biol (2010) 0.79
Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm. Hum Genet (2009) 0.79
Structure of the STRA6 receptor for retinol uptake. Science (2016) 0.78
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. Am J Hum Genet (2016) 0.78
A trans-acting protein effect causes severe eye malformation in the Mp mouse. PLoS Genet (2013) 0.78
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia. Eur J Hum Genet (2014) 0.78
An alternative retinoic acid-responsive Stra6 promoter regulated in response to retinol deficiency. J Biol Chem (2014) 0.78
Adaptive evolution of the STRA6 genes in mammalian. PLoS One (2014) 0.78
Signaling by retinol and its serum binding protein. Prostaglandins Leukot Essent Fatty Acids (2014) 0.78
Differential and isomer-specific modulation of vitamin A transport and the catalytic activities of the RBP receptor by retinoids. J Membr Biol (2013) 0.78
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes. BMC Med Genomics (2014) 0.78
Transport of vitamin A across blood-tissue barriers is facilitated by STRA6. FASEB J (2016) 0.77
Vitamin A Transport Mechanism of the Multitransmembrane Cell-Surface Receptor STRA6. Membranes (Basel) (2015) 0.77
Metabolic disturbances of the vitamin A pathway in human diaphragmatic hernia. Am J Physiol Lung Cell Mol Physiol (2015) 0.77
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. Genome Res (2016) 0.77
Signaling through retinoic acid receptors in cardiac development: Doing the right things at the right times. Biochim Biophys Acta (2014) 0.76
Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma. Birth Defects Res C Embryo Today (2015) 0.76
Predicting transmembrane protein topology with a hidden Markov model: application to complete genomes. J Mol Biol (2001) 66.87
Merlin--rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet (2001) 53.16
PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet (1998) 23.25
Allegro, a new computer program for multipoint linkage analysis. Nat Genet (2000) 14.00
TopPred II: an improved software for membrane protein structure predictions. Comput Appl Biosci (1994) 10.03
NPS@: network protein sequence analysis. Trends Biochem Sci (2000) 9.68
ELM server: A new resource for investigating short functional sites in modular eukaryotic proteins. Nucleic Acids Res (2003) 6.86
GRR: graphical representation of relationship errors. Bioinformatics (2001) 6.09
Mutations in SOX2 cause anophthalmia. Nat Genet (2003) 5.03
HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics (2004) 4.00
A membrane receptor for retinol binding protein mediates cellular uptake of vitamin A. Science (2007) 3.73
Overview of retinoid metabolism and function. J Neurobiol (2006) 3.19
STAT proteins: from normal control of cellular events to tumorigenesis. J Cell Physiol (2003) 3.04
ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics (2005) 2.90
Physiological substrates of cAMP-dependent protein kinase. Chem Rev (2001) 2.56
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. J Med Genet (2002) 2.39
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet (2000) 2.13
Congenital diaphragmatic hernia. Epidemiology and outcome. Clin Perinatol (1996) 2.06
Developmental expression pattern of Stra6, a retinoic acid-responsive gene encoding a new type of membrane protein. Mech Dev (1997) 1.89
Fog2 is required for normal diaphragm and lung development in mice and humans. PLoS Genet (2005) 1.69
Transcription factors and congenital heart defects. Annu Rev Physiol (2006) 1.66
IL-3 signaling and the role of Src kinases, JAKs and STATs: a covert liaison unveiled. Oncogene (2000) 1.56
Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. Am J Hum Genet (2005) 1.52
Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. Eur J Hum Genet (2006) 1.29
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. Hum Genet (2004) 1.28
Etiology of congenital diaphragmatic hernia: the retinoid hypothesis. Pediatr Res (2003) 1.25
Where to look for the genes related to diaphragmatic hernia? Genet Couns (2003) 1.20
Alveolar capillary dysplasia: a logical approach to a fatal disease. J Pediatr Surg (2005) 1.15
Growth factors in lung development. Adv Clin Chem (2005) 1.06
Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation. Clin Dysmorphol (1994) 0.98
Two sibs with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome). Am J Med Genet (1996) 0.94
Differential expression of retinoic acid-inducible (Stra) genes during mouse placentation. Mech Dev (2000) 0.93
Congenital diaphragmatic hernia: a retinoid-signaling pathway disruption during lung development? Birth Defects Res A Clin Mol Teratol (2005) 0.93
Vitamin a requirement for early cardiovascular morphogenesis specification in the vertebrate embryo: insights from the avian embryo. Exp Biol Med (Maywood) (2004) 0.86
A population-based case-control study of isolated anophthalmia and microphthalmia. Eur J Epidemiol (2005) 0.83
Another patient with pulmonary hypoplasia, microphthalmia and diaphragmatic hernia. Clin Dysmorphol (2006) 0.81
qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data. Genome Biol (2007) 16.15
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet (2007) 8.07
Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancer. Sci Transl Med (2010) 6.39
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis. Nature (2006) 5.57
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet (2006) 5.36
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet (2006) 5.29
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nat Genet (2012) 5.28
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
Correlation between genetic and geographic structure in Europe. Curr Biol (2008) 5.02
Germline KRAS mutations cause Noonan syndrome. Nat Genet (2006) 4.48
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet (2003) 4.34
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet (2008) 4.04
HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics (2004) 4.00
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
A community-driven global reconstruction of human metabolism. Nat Biotechnol (2013) 3.89
HomozygosityMapper--an interactive approach to homozygosity mapping. Nucleic Acids Res (2009) 3.86
Human-specific gain of function in a developmental enhancer. Science (2008) 3.84
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother. Lancet (2006) 3.72
Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-gamma. Nat Immunol (2007) 3.72
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol (2012) 3.29
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25
A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat Genet (2002) 3.19
Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium. J Natl Cancer Inst (2010) 3.18
Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development. Cell (2008) 3.12
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature (2012) 3.08
A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet (2009) 3.06
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet (2008) 3.00
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Am J Hum Genet (2006) 2.96
Lifestyle transitions in plant pathogenic Colletotrichum fungi deciphered by genome and transcriptome analyses. Nat Genet (2012) 2.92
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet (2013) 2.91
ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics (2005) 2.90
Cyclic adenosine monophosphate is a key component of regulatory T cell-mediated suppression. J Exp Med (2007) 2.88
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet (2005) 2.83
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat (2009) 2.81
Controlled vocabularies and semantics in systems biology. Mol Syst Biol (2011) 2.79
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet (2007) 2.75
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet (2008) 2.74
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet (2005) 2.70
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet (2004) 2.67
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat (2008) 2.66
Elements of morphology: standard terminology for the ear. Am J Med Genet A (2009) 2.64
Avoidance of mechanical ventilation by surfactant treatment of spontaneously breathing preterm infants (AMV): an open-label, randomised, controlled trial. Lancet (2011) 2.62
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat Genet (2010) 2.56
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci (2009) 2.54
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet (2005) 2.52
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet (2007) 2.46
Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol. Hum Mol Genet (2004) 2.45
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet (2009) 2.41
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
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet (2004) 2.40
Elements of morphology: introduction. Am J Med Genet A (2009) 2.39
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet (2002) 2.34
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet (2012) 2.34