Published in Am J Med Genet A on January 01, 2009
Linking human diseases to animal models using ontology-based phenotype annotation. PLoS Biol (2009) 5.17
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders. Nucleic Acids Res (2014) 3.71
Elements of morphology: standard terminology for the head and face. Am J Med Genet A (2009) 2.15
Next-generation sequencing demands next-generation phenotyping. Hum Mutat (2012) 1.75
The ontology of craniofacial development and malformation for translational craniofacial research. Am J Med Genet C Semin Med Genet (2013) 1.19
The biological coherence of human phenome databases. Am J Hum Genet (2009) 1.07
Polydactyly: how many disorders and how many genes? 2010 update. Dev Dyn (2011) 1.03
Evaluation and integration of disparate classification systems for clefts of the lip. Front Physiol (2014) 0.97
Craniofacial dysmorphology in 22q11.2 deletion syndrome by 3D laser surface imaging and geometric morphometrics: illuminating the developmental relationship to risk for psychosis. Am J Med Genet A (2015) 0.87
New approaches to the representation and analysis of phenotype knowledge in human diseases and their animal models. Brief Funct Genomics (2011) 0.85
Recommendations for the integration of genomics into clinical practice. Genet Med (2016) 0.85
The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients. Eur J Cancer (2013) 0.82
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project. Hum Mutat (2013) 0.82
Assessment of congenital anomalies in infants born to pregnant women enrolled in clinical trials. Clin Infect Dis (2014) 0.80
Elements of morphology: standard terminology for the external genitalia. Am J Med Genet A (2013) 0.80
Interrater reliability of a phenotypic assessment tool for the ear morphology in microtia. Am J Med Genet A (2013) 0.77
Evidence-based decision support for pediatric rheumatology reduces diagnostic errors. Pediatr Rheumatol Online J (2016) 0.75
An introduction to standardized clinical nomenclature for dysmorphic features: the Elements of Morphology project. BMC Med (2010) 0.75
When to suspect a genetic syndrome. Am Fam Physician (2012) 0.75
Elements of morphology: standard terminology for the ear. Am J Med Genet A (2009) 2.64
Elements of morphology: standard terminology for the periorbital region. Am J Med Genet A (2009) 2.53
Elements of morphology: standard terminology for the hands and feet. Am J Med Genet A (2009) 2.44
Elements of morphology: standard terminology for the head and face. Am J Med Genet A (2009) 2.15
Elements of morphology: standard terminology for the lips, mouth, and oral region. Am J Med Genet A (2009) 1.96
Elements of morphology: standard terminology for the nose and philtrum. Am J Med Genet A (2009) 1.93
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med (2013) 22.73
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
A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med (2011) 8.26
Genomic inheritances: disclosing individual research results from whole-exome sequencing to deceased participants' relatives. Am J Bioeth (2012) 7.50
Addressing the ethical challenges in genetic testing and sequencing of children. Am J Bioeth (2014) 7.34
Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circ Cardiovasc Genet (2010) 6.74
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res (2010) 5.76
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet (2004) 5.19
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet (2012) 4.45
Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med (2012) 4.04
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet (2006) 3.94
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
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
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet (2010) 3.09
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet (2004) 2.72
Motivators for participation in a whole-genome sequencing study: implications for translational genomics research. Eur J Hum Genet (2011) 2.64
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. Arthritis Rheum (2013) 2.60
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. J Allergy Clin Immunol (2008) 2.50
VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer. Bioinformatics (2011) 2.47
Exome sequencing makes medical genomics a reality. Nat Genet (2010) 2.47
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
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet (2006) 2.31
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet (2005) 2.25
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet (2007) 2.22
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder. Am J Med Genet A (2008) 2.17
Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am J Med Genet A (2007) 2.16
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Am J Hum Genet (2013) 2.15
Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet (2003) 2.11
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Hum Mol Genet (2005) 2.06
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet (2010) 1.96
3D analysis of facial morphology. Am J Med Genet A (2004) 1.95
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. Eur J Paediatr Neurol (2013) 1.94
Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study. Eur J Hum Genet (2012) 1.91
Cutaneous manifestations of proteus syndrome: correlations with general clinical severity. Arch Dermatol (2004) 1.91
Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet (2003) 1.89
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88
High incidence of malformation syndromes in a series of 1,073 children with cancer. Am J Med Genet A (2005) 1.85
Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics (2006) 1.82
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet (2005) 1.81
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics (2008) 1.80
Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. Am J Med Genet A (2004) 1.77
Next-generation sequencing demands next-generation phenotyping. Hum Mutat (2012) 1.75
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet (2012) 1.74
Standard terminology for phenotypic variations: the elements of morphology project, its current progress, and future directions. Hum Mutat (2012) 1.71
Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology. Ann Plast Surg (2008) 1.68
Radiologic manifestations of Proteus syndrome. Radiographics (2004) 1.66
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am J Hum Genet (2011) 1.65
4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype. J Pediatr (2004) 1.63
Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12. Eur J Hum Genet (2007) 1.63
Proteus syndrome: misdiagnosis with PTEN mutations. Am J Med Genet A (2003) 1.62
Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients. Dev Med Child Neurol (2009) 1.62
Motor proficiency in children with neurofibromatosis type 1. Pediatr Phys Ther (2010) 1.61
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
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet (2008) 1.58
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet (2009) 1.57
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet (2003) 1.52
The trisomy 18 syndrome. Orphanet J Rare Dis (2012) 1.52
Development of gastroschisis: review of hypotheses, a novel hypothesis, and implications for research. Am J Med Genet A (2007) 1.51
Etiology of mental retardation in children referred to a tertiary care center: a prospective study. Am J Ment Retard (2005) 1.48
Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. JAMA (2013) 1.48
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet (2011) 1.48
A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am J Med Genet A (2010) 1.46
[Desire for amputation in body integrity identity disorder]. Ned Tijdschr Geneeskd (2014) 1.45
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet (2008) 1.45
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. Am J Med Genet A (2007) 1.44
A novel multiple congenital anomaly-mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters. Am J Med Genet A (2007) 1.44
A candidate gene for autoimmune myasthenia gravis. Neurology (2012) 1.44
Interpreting secondary cardiac disease variants in an exome cohort. Circ Cardiovasc Genet (2013) 1.43
Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients. Am J Med Genet A (2003) 1.43
The Peters' plus syndrome: a review. Ann Genet (2002) 1.42
MLL2 mutation spectrum in 45 patients with Kabuki syndrome. Hum Mutat (2010) 1.41
Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia. Am J Med Genet A (2006) 1.41
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. Am J Hum Genet (2011) 1.40
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. Am J Hum Genet (2003) 1.40
The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. Am J Hum Genet (2012) 1.40
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet (2013) 1.39
Why is the construction: Hypoplastic left heart "syndrome" a misnomer? And: What is a syndrome, anyhow? Am J Med Genet A (2011) 1.38
Exome sequencing: the expert view. Genome Biol (2011) 1.37
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A (2010) 1.36
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A (2014) 1.31
Validation of My Family Health Portrait for six common heritable conditions. Genet Med (2010) 1.31
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. Hum Genet (2003) 1.31
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am J Hum Genet (2006) 1.31
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am J Hum Genet (2012) 1.30
Hedgehog signaling regulates sensory cell formation and auditory function in mice and humans. J Neurosci (2008) 1.30
Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats. J Biol Chem (2008) 1.29
Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet (2012) 1.28
Anabaptist genealogy database. Am J Med Genet C Semin Med Genet (2003) 1.28
Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology (2013) 1.28
Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision. Am J Med Genet C Semin Med Genet (2008) 1.27
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet (2010) 1.27
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat (2013) 1.27
Diagnostic evaluation of developmental delay/mental retardation: An overview. Am J Med Genet C Semin Med Genet (2003) 1.27