Published in Trends Biotechnol on January 27, 2006
Parts, property and sharing. Nat Biotechnol (2009) 1.19
The UNITAID Patent Pool Initiative: Bringing Patents Together for the Common Good. Open AIDS J (2010) 1.05
Impact of gene patents and licensing practices on access to genetic testing for long QT syndrome. Genet Med (2010) 0.92
The impact of human gene patents on genetic testing in the United Kingdom. Genet Med (2011) 0.92
Patents and translational research in genomics. Nat Biotechnol (2007) 0.83
Sharing knowledge: a new frontier for public-private partnerships in medicine. Genome Med (2009) 0.82
The impact of patents on the development of genome-based clinical diagnostics: an analysis of case studies. Genet Med (2009) 0.75
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71
Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62
Congenital disorders of glycosylation: a rapidly expanding disease family. Annu Rev Genomics Hum Genet (2007) 2.12
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10
Legal uncertainty in the area of genetic diagnostic testing. Nat Biotechnol (2009) 2.00
Models for facilitating access to patents on genetic inventions. Nat Rev Genet (2006) 1.89
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. Hum Mutat (2009) 1.84
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet (2008) 1.82
Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome. Eur J Hum Genet (2007) 1.78
A standardized framework for the validation and verification of clinical molecular genetic tests. Eur J Hum Genet (2010) 1.70
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. Proc Natl Acad Sci U S A (2006) 1.56
CDG nomenclature: time for a change! Biochim Biophys Acta (2009) 1.49
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. Eur J Hum Genet (2005) 1.49
Patenting and licensing in genetic testing: ethical, legal, and social issues. Eur J Hum Genet (2008) 1.45
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation. Hum Mol Genet (2007) 1.40
Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study. Hum Mutat (2005) 1.39
Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation. Mol Genet Metab (2007) 1.33
Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis. Glycobiology (2003) 1.32
Golgi function and dysfunction in the first COG4-deficient CDG type II patient. Hum Mol Genet (2009) 1.32
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol (2012) 1.29
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). Hum Mutat (2005) 1.23
A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency. J Biol Chem (2002) 1.22
TMEM165 deficiency causes a congenital disorder of glycosylation. Am J Hum Genet (2012) 1.20
Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality. Mol Cell Biol (2006) 1.15
Congenital disorders of glycosylation: a review. Pediatr Res (2002) 1.15
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Eur J Hum Genet (2007) 1.14
Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. Am J Hum Genet (2005) 1.11
Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema. Eur J Pediatr (2005) 1.10
Patenting genes. BMJ (2004) 1.08
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. Hum Mol Genet (2004) 1.07
Gene and genetic diagnostic method patent claims: a comparison under current European and US patent law. Eur J Hum Genet (2011) 1.07
How Golgi glycosylation meets and needs trafficking: the case of the COG complex. Glycobiology (2010) 1.07
Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. Am J Med Genet A (2005) 1.05
Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. Hum Mol Genet (2002) 1.03
Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells. Proc Natl Acad Sci U S A (2013) 1.02
Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. Am J Hum Genet (2007) 1.00
Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of {beta}1,4-galactosyltransferase 1 and {alpha}2,6-sialyltransferase 1. Glycobiology (2010) 1.00
CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. Am J Med Genet A (2005) 1.00
Epilepsy as part of the phenotype associated with ATP1A2 mutations. Epilepsia (2007) 0.99
A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report. Orphanet J Rare Dis (2010) 0.98
Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing. J Mol Diagn (2012) 0.97
The EuroGentest Clinical Utility Gene Cards continued. Eur J Hum Genet (2013) 0.97
Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient. Glycobiology (2009) 0.97
Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype. Eur J Med Genet (2005) 0.95
Analysing DNA patents in relation with diagnostic genetic testing. Eur J Hum Genet (2006) 0.95
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Brain (2014) 0.95
The European BRCA patent oppositions and appeals: coloring inside the lines. Nat Biotechnol (2013) 0.95
Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories. Eur J Hum Genet (2008) 0.95
A mammalian protein homologous to fructosamine-3-kinase is a ketosamine-3-kinase acting on psicosamines and ribulosamines but not on fructosamines. Diabetes (2003) 0.94
Patenting and licensing in genetic testing: recommendations of the European Society of Human Genetics. Eur J Hum Genet (2008) 0.94
Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1. Hum Mol Genet (2008) 0.94
Mutation analysis in congenital Long QT Syndrome--a case with missense mutations in KCNQ1 and SCN5A. Genet Test (2003) 0.93
DPAGT1-CDG: report of a patient with fetal hypokinesia phenotype. Am J Med Genet A (2012) 0.92
PREPL: a putative novel oligopeptidase propelled into the limelight. Biol Chem (2006) 0.91
A genetic predisposition score for muscular endophenotypes predicts the increase in aerobic power after training: the CAREGENE study. BMC Genet (2011) 0.91
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. Mol Genet Metab (2007) 0.91
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. J Pediatr (2002) 0.91
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). Eur J Hum Genet (2002) 0.91
Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II. Hum Mol Genet (2013) 0.90
RFT1 deficiency in three novel CDG patients. Hum Mutat (2009) 0.90
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. Hum Mol Genet (2002) 0.90
A clearing house for diagnostic testing: the solution to ensure access to and use of patented genetic inventions? Bull World Health Organ (2006) 0.88
Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes. Clin Chem (2012) 0.87
COG5-CDG: expanding the clinical spectrum. Orphanet J Rare Dis (2012) 0.87
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. Eur J Hum Genet (2003) 0.86
Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation. Eur J Med Genet (2008) 0.86
Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis. Hum Mol Genet (2012) 0.86
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. Hum Mutat (2009) 0.86
Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I. Glycobiology (2003) 0.86
The CAREGENE study: polymorphisms of the beta1-adrenoceptor gene and aerobic power in coronary artery disease. Eur Heart J (2006) 0.86
Innovative Medicines Initiative (IMI) Case Study Analysis Reveals the True Added Value of Early-Phase Public-Private Partnerships (PPPs). Biotechnol Law Rep (2015) 0.85
The fate and future of patents on human genes and genetic diagnostic methods. Nat Rev Genet (2012) 0.85
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. Am J Med Genet A (2012) 0.85
Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning. Clin Chem (2010) 0.84
Screening for OST deficiencies in unsolved CDG-I patients. Biochem Biophys Res Commun (2009) 0.83
Multi-system disorder syndromes associated with cystinuria type I. Curr Mol Med (2008) 0.83
Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I). Biochimie (2011) 0.83
Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase. J Biol Chem (2008) 0.82
A new mutation in COG7 extends the spectrum of COG subunit deficiencies. Eur J Med Genet (2009) 0.82
Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study. Neurobiol Aging (2013) 0.82
Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16. Am J Hum Genet (2008) 0.81
Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome. Am J Med Genet A (2003) 0.81
Impact of gene patents on diagnostic testing: a new patent landscaping method applied to spinocerebellar ataxia. Eur J Hum Genet (2011) 0.80
ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings. Mol Genet Metab (2013) 0.80
Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation. Mol Genet Metab (2013) 0.80
Diagnostic DHPLC Quality Assurance (DDQA): a collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories. Hum Mutat (2005) 0.80
Patent pools and clearinghouses in the life sciences. Trends Biotechnol (2011) 0.78
The CAREGENE study: genetic variants of the endothelium and aerobic power in patients with coronary artery disease. Acta Cardiol (2011) 0.78
Alkynyl monosaccharide analogues as a tool for evaluating Golgi glycosylation efficiency: application to Congenital Disorders of Glycosylation (CDG). Chem Commun (Camb) (2013) 0.78
Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD). Eur J Hum Genet (2002) 0.78
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes. Eur J Med Genet (2012) 0.78
Should we screen for FMR1 premutations in female subjects presenting with ataxia? Ann Neurol (2005) 0.78