Published in Hum Mutat on April 13, 2012
PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features. Hum Mutat (2013) 2.13
Evaluation and integration of disparate classification systems for clefts of the lip. Front Physiol (2014) 0.97
Human genotype-phenotype databases: aims, challenges and opportunities. Nat Rev Genet (2015) 0.93
Perspectives and challenges in advancing research into craniofacial anomalies. Am J Med Genet C Semin Med Genet (2013) 0.89
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
Mining skeletal phenotype descriptions from scientific literature. PLoS One (2013) 0.85
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort. Genet Med (2015) 0.84
Decomposing phenotype descriptions for the human skeletal phenome. Biomed Inform Insights (2013) 0.84
Supervised segmentation of phenotype descriptions for the human skeletal phenome using hybrid methods. BMC Bioinformatics (2012) 0.82
Utility and limitations of animal models for the functional validation of human sequence variants. Mol Genet Genomic Med (2015) 0.75
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
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
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
Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics (2010) 2.56
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
Elements of morphology: introduction. Am J Med Genet A (2009) 2.39
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
Noonan syndrome. Lancet (2013) 2.13
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
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
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
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
Discriminating power of localized three-dimensional facial morphology. Am J Hum Genet (2005) 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
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
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
SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. Neurogenetics (2013) 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
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
[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
A candidate gene for autoimmune myasthenia gravis. Neurology (2012) 1.44
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. Am J Med Genet A (2007) 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
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
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
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet (2003) 1.32
Validation of My Family Health Portrait for six common heritable conditions. Genet Med (2010) 1.31
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A (2014) 1.31
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. Hum Genet (2003) 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
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
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet (2003) 1.27
Singleton-Merten syndrome: an autosomal dominant disorder with variable expression. Am J Med Genet A (2013) 1.26
The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome? Am J Med Genet A (2011) 1.25
Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet (2002) 1.25
Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation. Genet Med (2005) 1.25
Diagnostic clinical genome and exome sequencing. N Engl J Med (2014) 1.24
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am J Med Genet A (2003) 1.23
Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study. Hum Reprod (2007) 1.22
Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. Proc Natl Acad Sci U S A (2006) 1.21
Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome. J Am Acad Dermatol (2010) 1.21
High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet (2013) 1.21
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A (2014) 1.20
Principles for the surgical management of patients with Proteus syndrome and patients with overgrowth not meeting Proteus criteria. J Pediatr Surg (2002) 1.20
Prevalence and patterns of morphological abnormalities in patients with childhood cancer. JAMA (2008) 1.18