Elements of morphology: standard terminology for the nose and philtrum.

Elements of morphology: standard terminology for the hands and feet. Am J Med Genet A (2009) 2.44

Elements of morphology: introduction. Am J Med Genet A (2009) 2.39

Elements of morphology: standard terminology for the head and face. Am J Med Genet A (2009) 2.15

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet (2015) 1.03

Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines. Am J Med Genet A (2009) 0.88

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

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

Efficacy of a medical genetics rotation during pediatric training. Genet Med (2015) 0.81

Elements of morphology: standard terminology for the external genitalia. Am J Med Genet A (2013) 0.80

Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis. Syst Rev (2017) 0.75

An introduction to standardized clinical nomenclature for dysmorphic features: the Elements of Morphology project. BMC Med (2010) 0.75

Digitalized analysis of philtral anatomy for planning individual treatment. Surg Radiol Anat (2017) 0.75

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet (2008) 8.44

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30

Polysaccharide conjugate vaccine against pneumococcal pneumonia in adults. N Engl J Med (2015) 5.86

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. Nat Genet (2004) 4.58

Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet (2004) 2.94

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet (2007) 2.51

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet (2007) 2.35

A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. Am J Med Genet A (2013) 2.35

Achondroplasia. Lancet (2007) 2.22

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet (2008) 2.16

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Am J Hum Genet (2007) 2.07

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics (2006) 2.03

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet (2007) 2.02

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. Am J Hum Genet (2006) 1.85

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A (2012) 1.85

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res (2008) 1.81

A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. Am J Med Genet A (2004) 1.79

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet (2005) 1.79

Rubinstein-Taybi syndrome. Eur J Hum Genet (2006) 1.75

Discriminating power of localized three-dimensional facial morphology. Am J Hum Genet (2005) 1.71

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. Am J Hum Genet (2005) 1.67

The mutation spectrum in RECQL4 diseases. Eur J Hum Genet (2008) 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

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. Am J Hum Genet (2010) 1.60

Adverse birth outcome among mothers with low serum cholesterol. Pediatrics (2007) 1.58

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet (2005) 1.55

Ciliary disorder of the skeleton. Am J Med Genet C Semin Med Genet (2012) 1.55

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nat Genet (2010) 1.52

Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet (2012) 1.50

Individualized medicine. What the genetic revolution will bring to health care in the 21st century. Can Fam Physician (2003) 1.46

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. Eur J Hum Genet (2003) 1.45

Economic evaluation of a neural tube defect recurrence-prevention program. Am J Prev Med (2008) 1.42

Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective. J Pediatr Orthop (2007) 1.38

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. Eur J Hum Genet (2012) 1.36

Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements. Am J Med Genet A (2005) 1.35

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet (2011) 1.34

AGTR2 mutations in X-linked mental retardation. Science (2002) 1.34

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. Hum Mol Genet (2005) 1.32

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

Health supervision for children with achondroplasia. Pediatrics (2005) 1.32

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. Oncotarget (2011) 1.31

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am J Med Genet A (2010) 1.30

Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome. Am J Cardiol (2007) 1.29

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet (2010) 1.27

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am J Hum Genet (2002) 1.27

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet (2012) 1.23

Klinefelter syndrome: expanding the phenotype and identifying new research directions. Genet Med (2003) 1.21

Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. Am J Med Genet A (2005) 1.19

Schimke immunoosseous dysplasia: suggestions of genetic diversity. Hum Mutat (2007) 1.19

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. Am J Hum Genet (2008) 1.18

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. Hum Mol Genet (2012) 1.16

Functional disomy of the Xq28 chromosome region. Eur J Hum Genet (2005) 1.15

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. J Med Genet (2009) 1.14

11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity. Am J Med Genet A (2011) 1.14

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat (2011) 1.13

The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. Best Pract Res Clin Endocrinol Metab (2007) 1.13

Fragile X syndrome detection in newborns-pilot study. Genet Med (2008) 1.12

Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome. Eur J Hum Genet (2008) 1.12

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet (2009) 1.11

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. Nat Genet (2007) 1.11

Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme. Hum Mutat (2008) 1.10

Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies? Am J Med Genet A (2011) 1.10

Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman. Am J Med Genet (2002) 1.07

Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat (2006) 1.06

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum Genet (2006) 1.06

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat (2011) 1.06

OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels. Hum Mutat (2010) 1.06

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. Eur J Hum Genet (2002) 1.04

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Am J Med Genet A (2013) 1.04

Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism. Proc Natl Acad Sci U S A (2011) 1.03

Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome. Am J Med Genet A (2004) 1.02

Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet (2002) 1.02

FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing. Genet Med (2009) 1.00

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. Am J Hum Genet (2004) 0.99

Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. Am J Hum Genet (2009) 0.98

The 3M syndrome. Best Pract Res Clin Endocrinol Metab (2011) 0.98

Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. Am J Med Genet A (2008) 0.97

Decreased tryptophan metabolism in patients with autism spectrum disorders. Mol Autism (2013) 0.97

15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q. Am J Med Genet A (2009) 0.96

Natural history of Christianson syndrome. Am J Med Genet A (2010) 0.96

X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation. Genome Res (2007) 0.96

Gastroschisis: clinical presentation and associations. Am J Med Genet C Semin Med Genet (2008) 0.94

Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis. Prenat Diagn (2013) 0.93

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. Brain (2013) 0.93

Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. Am J Med Genet A (2008) 0.93

Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis. Clin Dysmorphol (2004) 0.93

Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia. Am J Med Genet A (2006) 0.93

Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. Birth Defects Res A Clin Mol Teratol (2010) 0.92

Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism. Am J Med Genet A (2011) 0.92

Epithelial Ca(2+) channel (ECAC1) in autosomal dominant idiopathic hypercalciuria. Nephrol Dial Transplant (2002) 0.92

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome. Eur J Hum Genet (2005) 0.92

Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci. Diabetes (2002) 0.91

Ambulatory activity in youth with arthrogryposis: a cohort study. J Pediatr Orthop (2009) 0.91

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination. J Exp Med (2013) 0.91

A letter from CMAJ's editorial board to the CMA. CMAJ (2002) 0.90

Genetic and molecular aspects of acromelic dysplasia. Pediatr Endocrinol Rev (2009) 0.90

A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred. Am J Med Genet A (2006) 0.88