Published in J Biol Chem on January 16, 2008
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet (2009) 1.83
Mass spectrometry in the analysis of N-linked and O-linked glycans. Curr Opin Struct Biol (2009) 1.77
The thrombospondins. Cold Spring Harb Perspect Biol (2011) 1.52
Mutation analysis of B3GALTL in Peters Plus syndrome. Am J Med Genet A (2008) 1.16
MNK1 pathway activity maintains protein synthesis in rapalog-treated gliomas. J Clin Invest (2014) 1.13
Role of unusual O-glycans in intercellular signaling. Int J Biochem Cell Biol (2008) 1.08
O-fucosylation of thrombospondin type 1 repeats restricts epithelial to mesenchymal transition (EMT) and maintains epiblast pluripotency during mouse gastrulation. Dev Biol (2010) 1.05
Golgi glycosylation and human inherited diseases. Cold Spring Harb Perspect Biol (2011) 0.99
Structure of human POFUT2: insights into thrombospondin type 1 repeat fold and O-fucosylation. EMBO J (2012) 0.94
A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome. Am J Med Genet A (2009) 0.92
Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism. Curr Biol (2014) 0.91
Normal glycosylation screening does not rule out SRD5A3-CDG. Eur J Hum Genet (2011) 0.88
Proteomic and functional analysis of the noncanonical poly(A) polymerase Cid14. RNA (2010) 0.87
Prenatal diagnosis of fetal peters' plus syndrome: a case report. Case Rep Genet (2013) 0.85
miRNA proxy approach reveals hidden functions of glycosylation. Proc Natl Acad Sci U S A (2015) 0.81
The N's and O's of Drosophila glycoprotein glycobiology. Glycoconj J (2012) 0.76
Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome. PLoS One (2017) 0.75
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
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
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
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet (2007) 2.22
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Hum Mol Genet (2005) 2.06
3D analysis of facial morphology. Am J Med Genet A (2004) 1.95
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
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet (2009) 1.83
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
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
Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12. Eur J Hum Genet (2007) 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
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
Etiology of mental retardation in children referred to a tertiary care center: a prospective study. Am J Ment Retard (2005) 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
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. Am J Med Genet A (2007) 1.44
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
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
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
Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet (2012) 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
Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation. Genet Med (2005) 1.25
Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study. Hum Reprod (2007) 1.22
High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet (2013) 1.21
Prevalence and patterns of morphological abnormalities in patients with childhood cancer. JAMA (2008) 1.18
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A (2007) 1.18
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. Am J Med Genet (2002) 1.17
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. Hum Mol Genet (2003) 1.16
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. Orphanet J Rare Dis (2012) 1.15
Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. Blood (2005) 1.15
Identification and characterization of abeta1,3-glucosyltransferase that synthesizes the Glc-beta1,3-Fuc disaccharide on thrombospondin type 1 repeats. J Biol Chem (2006) 1.13
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation. Hum Mol Genet (2006) 1.11
Nicolaides-Baraitser syndrome: Delineation of the phenotype. Am J Med Genet A (2009) 1.11
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. J Med Genet (2009) 1.10
Prevalence of rib anomalies in normal Caucasian children and childhood cancer patients. Eur J Med Genet (2005) 1.09
Severe infantile Marfan syndrome versus neonatal Marfan syndrome. Am J Med Genet A (2005) 1.07
C-mannosylation and o-fucosylation of thrombospondin type 1 repeats. Mol Cell Proteomics (2002) 1.06
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. Hum Mol Genet (2009) 1.05
Further delineation of Frank-ter Haar syndrome. Am J Med Genet A (2004) 1.03
Non-immune hydrops fetalis: a short review of etiology and pathophysiology. Am J Med Genet A (2012) 1.02
Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity. Hum Genet (2010) 1.01
Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report. Am J Med Genet A (2008) 1.01
Etiology of nonimmune hydrops fetalis: a systematic review. Am J Med Genet A (2009) 1.00
Mutational spectrum of Smith-Lemli-Opitz syndrome. Am J Med Genet C Semin Med Genet (2012) 1.00
Plantar lipomatosis, unusual facies, and developmental delay: confirmation of Pierpont syndrome. Am J Med Genet A (2005) 0.99
Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. J Med Genet (2009) 0.98
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. J Med Genet (2012) 0.97
Acyl coenzyme A thioesterase Them5/Acot15 is involved in cardiolipin remodeling and fatty liver development. Mol Cell Biol (2012) 0.97
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. Am J Med Genet A (2005) 0.97
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). Hum Genet (2009) 0.97
Further delineation of the chromosome 14q terminal deletion syndrome. Am J Med Genet (2002) 0.96
Growth hormone analysis and treatment in Ellis-van Creveld syndrome. Am J Med Genet A (2007) 0.96
A proposal for classification of entities combining vascular malformations and deregulated growth. Eur J Med Genet (2011) 0.96
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype. Am J Hum Genet (2011) 0.96
Phenotypic abnormalities: terminology and classification. Am J Med Genet A (2003) 0.95
Immunological abnormalities in CHARGE syndrome. Eur J Med Genet (2007) 0.95
Structure of human POFUT2: insights into thrombospondin type 1 repeat fold and O-fucosylation. EMBO J (2012) 0.94
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. Biochim Biophys Acta (2012) 0.94
Connective tissue involvement in two patients with features of cranioectodermal dysplasia. Am J Med Genet A (2009) 0.93
Growth charts for children with Ellis-van Creveld syndrome. Eur J Pediatr (2010) 0.93
Familial clustering of giant congenital melanocytic nevi. J Plast Reconstr Aesthet Surg (2009) 0.92
Clinical disorders of primary malfunctioning of the lymphatic system. Adv Anat Embryol Cell Biol (2014) 0.92
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. Biochim Biophys Acta (2010) 0.92
Infantile hypertrophic pyloric stenosis--genetics and syndromes. Nat Rev Gastroenterol Hepatol (2012) 0.92
Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome. Am J Med Genet A (2005) 0.91
Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity? Am J Med Genet A (2007) 0.90
Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene. Eur J Med Genet (2012) 0.89
Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome. Eur J Hum Genet (2007) 0.89
Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up. Am J Med Genet A (2005) 0.89
The persistent embryonic vein in Klippel-Trenaunay syndrome. Vasc Med (2013) 0.88
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. J Hum Genet (2010) 0.88
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat (2015) 0.87
A locus for hereditary capillary malformations mapped on chromosome 5q. Hum Genet (2002) 0.87
Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions. PLoS One (2011) 0.87
MECP2 duplication in a patient with congenital central hypoventilation. Am J Med Genet A (2010) 0.87
Phenotype and natural history in Marshall-Smith syndrome. Am J Med Genet A (2010) 0.87
The cardiac phenotype in patients with a CHD7 mutation. Circ Cardiovasc Genet (2013) 0.86
Cornelia de Lange syndrome: extending the physical and psychological phenotype. Am J Med Genet A (2010) 0.86
Cranio-osteoarthropathy in sibs. Clin Dysmorphol (2007) 0.85
Normal values for morphological abnormalities in school children. Am J Med Genet A (2006) 0.85
Growth failure in adolescents: etiology, the role of pubertal timing and most useful criteria for diagnostic workup. J Pediatr Endocrinol Metab (2016) 0.84
A phenotype map for 14q32.3 terminal deletions. Am J Med Genet A (2012) 0.84
Testicular cancer in a patient with Primrose syndrome. Eur J Med Genet (2005) 0.84