Published in J Cyst Fibros on February 01, 2008
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Estimation of the inbreeding coefficient through use of genomic data. Am J Hum Genet (2003) 4.01
In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics. Clin Chem (2004) 3.43
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Absence of association of thrombophilia polymorphisms with intrauterine growth restriction. N Engl J Med (2002) 3.15
Review and update of mutations causing Waardenburg syndrome. Hum Mutat (2010) 2.59
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet (2010) 2.12
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. Brain (2013) 2.03
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Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. Eur J Hum Genet (2008) 2.01
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat (2007) 1.93
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. Hum Mutat (2009) 1.71
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet (2001) 1.70
Robustness of case-control studies of genetic factors to population stratification: magnitude of bias and type I error. Cancer Epidemiol Biomarkers Prev (2004) 1.68
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. Am J Hum Genet (2009) 1.65
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nat Genet (2003) 1.61
Genetic association and gene-environment interaction: a new method for overcoming the lack of exposure information in controls. Am J Epidemiol (2010) 1.60
ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum Mutat (2007) 1.55
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet (2007) 1.54
Impact of parental relationships in maximum lod score affected sib-pair method. Genet Epidemiol (2002) 1.54
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. Am J Hum Genet (2012) 1.48
Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations. Br J Haematol (2006) 1.44
Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. J Clin Invest (2006) 1.44
Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme. Hum Mutat (2011) 1.43
Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase. Haematologica (2005) 1.41
Complex trait mapping in isolated populations: Are specific statistical methods required? Eur J Hum Genet (2005) 1.30
Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations. Clin Chem (2003) 1.27
Dealing with missing data in family-based association studies: a multiple imputation approach. Hum Hered (2007) 1.25
Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study. Hum Mutat (2011) 1.25
Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development. Dev Biol (2006) 1.22
IL-4 is a potent modulator of ion transport in the human bronchial epithelium in vitro. J Immunol (2002) 1.18
The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population. Hum Mol Genet (2009) 1.17
ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease. Neurobiol Dis (2005) 1.16
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet (2009) 1.15
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness. Am J Hum Genet (2013) 1.14
The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever. Hum Mutat (2003) 1.11
On the use of haplotype phylogeny to detect disease susceptibility loci. BMC Genet (2005) 1.10
No replication of genetic association between candidate polymorphisms and Alzheimer's disease. Neurobiol Aging (2009) 1.10
Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever. C R Biol (2006) 1.08
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. Am J Hum Genet (2013) 1.08
Benchmarks for cystic fibrosis carrier screening: a European consensus document. J Cyst Fibros (2010) 1.08
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Hum Mutat (2014) 1.08
Lung cancer and DNA repair genes: multilevel association analysis from the International Lung Cancer Consortium. Carcinogenesis (2012) 1.05
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. Hum Genet (2002) 1.04
Sumoylation of the SOX10 transcription factor regulates its transcriptional activity. FEBS Lett (2006) 1.03
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. Hum Mutat (2011) 1.03
CFTR genotypes in patients with normal or borderline sweat chloride levels. Hum Mutat (2003) 1.02
Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies. Nucleic Acids Res (2013) 1.02
Are genome-wide association studies all that we need to dissect the genetic component of complex human diseases? Eur J Hum Genet (2006) 1.02
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. J Med Genet (2012) 1.02
Clustering of haplotypes based on phylogeny: how good a strategy for association testing? Eur J Hum Genet (2006) 1.00
Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction. Ann Neurol (2004) 0.99
Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us? Eur J Hum Genet (2011) 0.99
Handling missing values in population data: consequences for maximum likelihood estimation of haplotype frequencies. Eur J Hum Genet (2004) 0.99
COMMD1-mediated ubiquitination regulates CFTR trafficking. PLoS One (2011) 0.98
TCF4 deletions in Pitt-Hopkins Syndrome. Hum Mutat (2008) 0.96
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. Hum Mutat (2011) 0.95
Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4. Eur J Hum Genet (2012) 0.93
A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype. Hum Genet (2005) 0.93
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development. Hum Reprod (2012) 0.93
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B. Am J Med Genet A (2003) 0.93
TCGAP, a multidomain Rho GTPase-activating protein involved in insulin-stimulated glucose transport. EMBO J (2003) 0.93
Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the "Mowat-Wilson" syndrome. Neurobiol Dis (2004) 0.92
Cytogenetic analysis of 5572 patients referred for suspected chromosomal abnormalities in Morocco. Genet Test Mol Biomarkers (2012) 0.92
Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy. Proc Natl Acad Sci U S A (2012) 0.91
Rare and low frequency variant stratification in the UK population: description and impact on association tests. PLoS One (2012) 0.91
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier. PLoS Genet (2010) 0.91
High imatinib dose overcomes insufficient response associated with ABCG2 haplotype in chronic myelogenous leukemia patients. Oncotarget (2013) 0.91
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. Hum Mol Genet (2013) 0.90
A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice. J Cyst Fibros (2011) 0.90
The Moroccan human mutation database. Indian J Hum Genet (2008) 0.90
Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. Am J Med Genet A (2005) 0.89
How important are rare variants in common disease? Brief Funct Genomics (2014) 0.89
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies. Eur J Hum Genet (2012) 0.88
ALTree: association detection and localization of susceptibility sites using haplotype phylogenetic trees. Bioinformatics (2006) 0.87
Y-chromosome AZFc structural architecture and relationship to male fertility. Fertil Steril (2008) 0.87
Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report. J Med Case Rep (2014) 0.87
KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome. Hum Mol Genet (2013) 0.87
Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva. Clin Rheumatol (2009) 0.87
Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28. J Invest Dermatol (2002) 0.87
Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients. J Biomed Biotechnol (2002) 0.87
Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis. Thorax (2010) 0.86
Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations. Mol Genet Metab (2008) 0.86
CSN5 binds to misfolded CFTR and promotes its degradation. Biochim Biophys Acta (2008) 0.86
Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development. Dev Biol (2010) 0.85
An inherited LMNA gene mutation in atypical Progeria syndrome. Am J Med Genet A (2012) 0.85
Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations. J Clin Endocrinol Metab (2012) 0.85
Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor. J Clin Endocrinol Metab (2009) 0.84
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations. Mol Genet Metab (2012) 0.84
Genetic testing and first presymptomatic diagnosis in Moroccan families at high risk for breast/ovarian cancer. Oncol Lett (2011) 0.84
Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens. Genet Med (2007) 0.83