Upcoming Events

March 28-30, 2012

ACMG 2012 - Interactive Biosoftware will exhibit at the ACMG Annual Clinical Genetics Meeting in Charlotte (NC), USA.

June 24-26, 2012

ESHG 2012 - Interactive Biosoftware will exhibit at the European Human Genetics Conference in Nürnberg, Germany.

Press Releases

January 2012

ACMG Meeting Interactive Biosoftware published a press release for the upcoming Annual Clinical Genetics Meeting: Groundbreaking Software Redefines Geneticists' Research Process.

June 2011

GEN published a small article on Alamut in its New Products column: Mutation Dx Software.

BSHG News - A short article in The Newsletter of the British Society for Human Genetics: DMuDB.

April 2011

OrphaNews Europe Cafe Variome - gene variant data clearinghouse goes live.

March 2011

Bio-IT World published a small article on Alamut in its New Products column: Mutation Software.

GenomeWeb published an article on Alamut in its BioInform column: French Informatics Firm Touts 'Mutation Interpretation' as Key Differentiator of its Data-Analysis Software.

February 2011

BSHG News - A short article in The Newsletter of the British Society for Human Genetics: DMuDB updates.

Alamut 2.0 - View the press release announcing Alamut version 2.0.

June 2010

BSHG News - A short article in The Newsletter of the British Society for Human Genetics: DMuDB updates.

June 2009

BSHG News - An article in The Newsletter of the British Society for Human Genetics: In silico tools for prediction of splicing mutations.

December 2008

Short article about Interactive Biosoftware published in French newspaper La Tribune.

January 2008

OrphaNews Europe French company creates new mutation diagnostic software application.

Literature

Published work using Alamut software:

February, 2012

Bowman et al.
Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.
Eur J Hum Genet. 2012 Feb

Depienne et al.
RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans.
Am J Hum Genet. 2012 Feb

Out et al.
MUTYH gene variants and breast cancer in a Dutch case-control study.
Breast Cancer Res Treat. 2012 Feb

Rodrigues et al.
Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects.
Blood Cells Mol Dis. 2012 Feb

January, 2012

Adams et al.
Analysis of DNA sequence variants detected by high throughput sequencing.
Hum Mutat. 2012 Jan

Coppieters et al.
Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.
Genet Med. 2012 Jan

Duno et al.
Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.
Ophthalmic Genet. 2012 Jan

Hoeijmakers et al.
Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation.
Brain. 2012 Jan

Pereira et al.
Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations.
Genet Med. 2012 Jan

Rath et al.
Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene.
Breast Cancer Res Treat. 2012 Jan

Stouffs et al.
Array comparative genomic hybridization in male infertility.
Hum Reprod. 2012 Jan

van der Walt et al.
Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease.
Eur J Hum Genet. 2012 Jan

Zvereff et al.
Molecular diagnostic dilemmas in Rett syndrome.
Brain Dev. 2012 Jan

December, 2011

Estacion et al.
Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7.
Mol Pain. 2011 Dec

Funghini et al.
Carbamoyl Phosphate Synthetase 1 deficiency in Italy: Clinical and genetic findings in a heterogeneous cohort.
Gene. 2011 Dec

Hoogeveen-Westerveld et al.
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
Hum Mutat. 2011 Dec

Ostrowska Dahlgren et al.
A novel variant in plakophilin-2 gene detected in a family with arrhythmogenic right ventricular cardiomyopathy.
J Interv Card Electrophysiol. 2011 Dec

Richards et al.
Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations.
Eur J Hum Genet. 2011 Dec

Riise Stensland et al.
Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations.
Hum Mutat. 2011 Dec

Shi et al.
On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation.
Brain Dev. 2011 Dec

Tatton-Brown et al.
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Oncotarget. 2011 Dec

van Eeghen et al.
Genotype and cognitive phenotype of patients with tuberous sclerosis complex.
Eur J Hum Genet. 2011 Dec

Wahbi et al.
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
Neuromuscul Disord. 2011 Dec

Winge et al.
Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris.
PLoS One. 2011 Dec

Winge et al.
Lack of association between filaggrin gene mutations and onset of psoriasis in childhood.
J Eur Acad Dermatol Venereol. 2011 Dec

November, 2011

Blanco et al.
Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer.
Breast Cancer Res Treat. 2011 Nov

Brandão et al.
BRCA1 c.4987-3C>G is a pathogenic mutation.
Breast Cancer Res Treat. 2011 Nov

Desrichard et al.
CHEK2 contribution to hereditary breast cancer in non-BRCA families.
Breast Cancer Res. 2011 Nov

Gonzalez-Quereda et al.
LMNA mutation in progeroid syndrome in association with strokes.
Eur J Med Genet. 2011 Nov

Horton et al.
Long-Range PCR for Clinical Mutation Detection of SFTPA1 and SFTPA2 Genes.
J Mol Diagn. 2011 Nov

Huijgen et al.
Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-C levels.
Hum Mut. 2011 Nov

Janse et al.
Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI).
Fertil Steril. 2011 Nov

Jurecka et al.
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia.
Mol Genet Metab. 2011 Nov

Kim et al.
Novel mechanism of a CDH1 splicing mutation in a Korean patient with signet ring cell carcinoma.
BMB Rep. 2011 Nov

Siemiatkowska et al.
Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
Mol Vis. 2011 Nov

Sodi et al.
Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients.
Mol Vis. 2011 Nov

Wargon et al.
Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.
Neuromuscul Disord. 2011 Nov

October, 2011

Glaudemans et al.
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
Eur J Hum Genet. 2011 Oct

Hewawitharana et al.
A missense mutation in Mitofusin 2 causing early onset, progressive, axonal polyneuropathy (CMT2), optic atrophy and developmental delay in a child.
Neuromuscul Disord. 2011 Oct

Kömürcü-Bayrak et al.
Genetic analysis of sodium channel beta-subunits in Brugada Syndrome.
Türk Kardiyol Dern Ars. 2011 Oct

Mouzat et al.
A common polymorphism in NR1H2 (LXRbeta) is associated with preeclampsia.
BMC Med Genet. 2011 Oct

Schober et al.
Canavan disease: a novel mutation.
Pediatr Neurol. 2011 Oct

van den Akker et al.
Natural Gene Therapy in Dystrophic Epidermolysis Bullosa.
Arch Dermatol. 2011 Oct

Vaclavikova et al.
Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene.
Pediatr Surg Int. 2011 Oct

September, 2011

Duclos et al.
Pitfalls in the use of DGV for CNV interpretation.
Am J Med Genet A. 2011 Sep

El Abed et al.
Molecular study of the perforin gene in familial hematological malignancies.
Hered Cancer Clin Pract. 2011 Sep

McCauley et al.
X-linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations.
Am J Med Genet A. 2011 Sep

Meeths et al.
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.
Blood. 2011 Sep

Morey et al.
Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.
BMC Med Genet. 2011 Sep

Nurden et al.
Glanzmann Thrombasthenia-Like Syndromes Associated with Macrothrombocytopenias and Mutations in the Genes Encoding the alpha(IIb)beta(3) Integrin.
Semin Thromb Hemost. 2011 Sep

Robinson et al.
Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.
Clin Genet. 2011 Sep

Sethi et al.
Medullary amyloidosis associated with apolipoprotein A-IV deposition.
Kidney Int. 2011 Sep

Spiegel et al.
Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations.
Am J Med Genet A. 2011 Sep

Voets et al.
Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution.
Mitochondrion. 2011 Sep

Watts et al.
Familial hypercholesterolaemia: A model of care for Australasia.
Atheroscler Suppl. 2011 Sep

Zernant et al.
Analysis of the ABCA4 gene by next-generation sequencing.
Invest Ophthalmol Vis Sci. 2011 Sep

SM. Shiller, A. Dogan and WE. Highsmith
Book chapter, Laboratory Methods for the Diagnosis of Hereditary Amyloidoses. in Amyloidosis - Mechanisms and Prospects for Therapy, In-Tech, 2011

August, 2011

Bartsch et al.
A girl with an atypical form of Ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12.
Eur J Med Genet. 2011 Aug

Burnichon et al.
Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma.
Hum Mol Genet. 2011 Aug

Imbard et al.
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
Mol Genet Metab. 2011 Aug

Lannoy et al.
Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A.
Haemophilia. 2011 Aug

Loveday et al.
Germline mutations in RAD51D confer susceptibility to ovarian cancer.
Nat Genet. 2011 Aug

Olivotto et al.
Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations.
J Am Coll Cardiol. 2011 Aug

July, 2011

Brooks et al.
Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene.
QJM. 2011 Jul

Guegan et al.
JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.
Clin Genet. 2011 Jul

Laros et al.
A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form.
BMC Bioinformatics. 2011 Jul

Liu et al.
Molecular genetics and clinical features of Chinese IPAH and HPAH patients.
Eur Respir J. 2011 Jul

Thomassen et al.
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Breast Cancer Res Treat. 2011 Jul

C. Houdayer
Book chapter, In silico prediction of splice-affecting nucleotide variants. in In Silico Tools for Gene Discovery, Springer, 2011.

June, 2011

Adank et al.
PALB2 analysis in BRCA2-like families.
Breast Cancer Res Treat. 2011 Jun

Audrézet et al.
Comparison of bioinformatics, reporter minigene and mRNA study to analyse the effect of unclassified variants on CFTR mRNA splicing.
J Cyst Fibros. 2011 Jun

Bicocchi et al.
Molecular analysis of severe factor XI deficiency in three Italian patients.
Haemophilia. 2011 Jun

Brandão et al.
Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing.
Breast Cancer Res Treat. 2011 Jun

de La Faille et al.
A pseudo-dominant form of Gitelman's syndrome.
NDT Plus. 2011 Jun

Hampshire et al.
The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked.
Haematologica. 2011 Jun

Rodríguez-Pazos et al.
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.
Br J Dermatol. 2011 Jun

Théry et al.
Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.
Eur J Hum Genet. 2011 Jun

Vasseur et al.
Simple and accurate assays for targeting CFTR mutations of specific geographic/ethnic origins by PCR allelic discrimination.
J Cyst Fibros. 2011 Jun

Winge et al.
Novel filaggrin mutation but no other loss-of-function variants found in ethiopian atopic-dermatitis patients.
Br J Dermatol. 2011 Jun

May, 2011

Davit-Spraul et al.
Liver glycogen storage diseases due to phosphorylase system deficiencies: Diagnosis thanks to non invasive blood enzymatic and molecular studies.
Mol Genet Metab. 2011 May

Faber et al.
Gain of function Na(V) 1.7 mutations in idiopathic small fiber neuropathy.
Ann Neurol. 2011 May

Fong et al.
Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation.
Eur J Paediatr Neurol. 2011 May

Vezain et al.
A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.
Hum Mutat. 2011 May

April, 2011

Boutron et al.
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.
Mol Genet Metab. 2011 Apr

Couarch et al.
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.
J Mol Med. 2011 Apr

Dai et al.
Three dominant-negative mutations in factor XI-deficient patients.
Haemophilia. 2011 Apr

Groen et al.
THAP1 mutations are infrequent in spasmodic dysphonia.
Movement Disorders 2011 Apr

Jeanpierre et al.
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.
J Med Genet. 2011 Apr

Nicita et al.
Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome.
J Genet. 2011 Apr

Reynaud et al.
Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.
Eur J Endocrinol. 2011 Apr

Sarafoglou et al.
Molecular testing in congenital adrenal hyperplasia due to 21α -hydroxylase deficiency in the era of newborn screening.
Clin Genet. 2011 Apr

Speevak et al.
Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair.
Am J Med Genet B Neuropsychiatr Genet. 2011 Apr

March, 2011

Al-Khateeb et al.
Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.
BMC Med Genet. 2011 Mar

Al-Maawali et al.
Hereditary Spastic Paraplegia Associated With Axonal Neuropathy: A Novel Mutation of SPG3A in a Large Family.
J Clin Neuromuscul Dis. 2011 Mar

Banerjee et al.
The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with Congenital Hyperinsulinism (CHI).
Eur J Endocrinol. 2011 Mar

Daidone et al.
An apparently silent nucleotide substitution (c.7056C>T) in the von Willebrand factor gene is responsible for type 1 von Willebrand disease.
Haematologica. 2011 Mar

Dunlop et al.
Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence.
Eur J Hum Genet. 2011 Mar

O'Rourke et al.
A novel mutation of the erythropoietin receptor gene associated with primary familial and congenital polycythaemia.
Int J Hematol. 2011 Mar

Vargas-Poussou et al.
Spectrum of Mutations in Gitelman Syndrome.
J Am Soc Nephrol. 2011 Mar

A. Goodeve and R. Schneppenheim
Book chapter, Molecular Diagnosis of von Willebrand Disease: The Genotype. in Von Willebrand Disease: Basic and Clinical Aspects, Wiley-Blackwell, 2011.

S. Stamm
Book chapter, Alternative Splicing and Human Disease. in Encyclopedia of life sciences, John Wiley & Sons, 2011.

February, 2011

Glaus et al.
Gene Therapeutic Approach Using Mutation-adapted U1 snRNA to Correct a RPGR Splice Defect in Patient-derived Cells.
Mol Ther. 2011 Feb

Godfrey et al.
Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients.
Muscle & Nerve 2011 Feb

Moussa et al.
Lynch syndrome in Tunisia: first description of clinical features and germline mutations.
Int J Colorectal Dis. 2011 Feb

Namavar et al.
TSEN54 mutations cause pontocerebellar hypoplasia type 5.
Eur J Hum Genet. 2011 Feb

Pastrello et al.
Integrated analysis of unclassified variants in mismatch repair genes.
Genet Med. 2011 Feb

Zhang et al.
Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome.
J Hum Genet. 2011 Feb

January, 2011

Aguilar-Martinez et al.
Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.
Haematologica. 2011 Jan

D'haene et al.
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.
Invest Ophthalmol Vis Sci. 2011 Jan

Depienne et al.
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Hum Mutat. 2011 Jan

Haddad et al.
Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes.
Mol Syndromol. 2011 Jan

Modoni et al.
Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita.
J Clin Neurophysiol. 2011 Jan

Visser et al.
A comprehensive gene mutation screen in men with asthenozoospermia.
Fertil Steril. 2011 Jan

December, 2010

Carette et al.
Familial young-onset forms of diabetes related to HNF4A and rare HNF1A molecular aetiologies.
Diabet Med. 2010 Dec

Dupé et al.
NOTCH, a new signaling pathway implicated in Holoprosencephaly.
Hum Mol Genet. 2010 Dec

Kemp et al.
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
Brain. 2010 Dec

November, 2010

Caux-Moncoutier et al.
EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.
Hum Mutat. 2010 Nov

Gouw et al.
Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients.
Haemophilia. 2010 Nov

Meyer et al.
A novel missense mutation in a neonate with nonketotic hyperglycinemia.
Pediatr Neurol. 2010 Nov

Venselaar et al.
Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces.
BMC Bioinformatics. 2010 Nov

Zimmermann et al.
Analysis of F8 mRNA in haemophilia A patients with silent mutations or presumptive splice site mutations.
Hämostaseologie 2010

October, 2010

Briñas et al.
Early onset collagen VI myopathies: Genetic and clinical correlations.
Ann Neurol. 2010 Oct

Namavar et al.
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Brain. 2010 Oct

van den Ouweland et al.
Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis.
Fam Cancer. 2010 Oct

Rouleau et al.
A missense variant within BRCA1 exon 23 causing exon skipping.
Cancer Genet Cytogenet. 2010 Oct

September, 2010

Clappier et al.
NOTCH1 and FBXW7 mutations have a favorable impact on early response to treatment, but not on outcome, in children with T-cell acute lymphoblastic leukemia (T-ALL) treated on EORTC trials 58881 and 58951.
Leukemia. 2010 Sep

D'haene et al.
Molecular analysis in a large cohort of patients with anterior segment malformations: expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes.
Invest Ophthalmol Vis Sci. 2010 Sep

Echaniz-Laguna et al.
POLG1 Variations Presenting as Multiple Sclerosis.
Arch Neurol. 2010 Sep

Hilhorst-Hofstee et al.
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.
Hum Mutat. 2010 Sep

Rossi et al.
Molecular and Clinicopathologic Characterization of Gastrointestinal Stromal Tumors (GISTs) of Small Size.
Am J Surg Pathol. 2010 Sep

August, 2010

Bianchi et al.
An intronic mutation in MLH1 associated with familial colon and breast cancer.
Fam Cancer. 2010 Aug

Coppieters et al.
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Hum Mutat. 2010 Aug

Coppieters et al.
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Hum Mutat. 2010 Aug

Giordano et al.
Codon 24 (TAT>TAG) and Codon 32 (ATG>AGG) (Hb Rotterdam): Two Novel alpha2 Gene Mutations Associated with Mild alpha-Thalassemia Found in the Same Family After Newborn Screening.
Hemoglobin. 2010

Igreja et al.
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.
Hum Mutat. 2010 Aug

Joly et al.
Hb Charlieu [alpha106(G13)Leu-->Pro (alpha1)]: A New Phenotypically Silent Hemoglobin Variant Associated with a Mild alpha-Thalassemia Phenotype.
Hemoglobin. 2010

Lesca et al.
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
Epilepsia. 2010 Aug

O'Driscoll et al.
Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria.
Am J Hum Genet. 2010 Aug

Out et al.
Leiden open variation database of the MUTYH gene.
Hum Mutat. 2010 Aug

Sodi et al.
Novel RDH12 sequence variations in Leber congenital amaurosis.
J AAPOS. 2010 Aug

Stouffs et al.
Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages.
Reprod Biomed Online. 2010 Aug

Tucci et al.
Genetic variability at the PARK16 locus.
Eur J Hum Genet. 2010 Aug

van Kuilenburg et al.
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 Aug

June, 2010

Forges et al.
Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients.
Mol Genet Metab. 2010 Jun

Gaildrat et al.
The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.
J Med Genet. 2010 Jun

Occhi et al.
Prevalence of AIP mutations in a large series of sporadic Italian acromegalic patients and evaluation of CDKN1B status in acromegalic patients with multiple endocrine neoplasia.
Eur J Endocrinol. 2010 Jun

Tosi et al.
RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases.
Eur J Hum Genet. 2010 Jun

Wambach et al.
Surfactant Protein-C Promoter Variants Associated with Neonatal Respiratory Distress Syndrome Reduce Transcription.
Pediatr Res. 2010 Jun

May, 2010

Nordstrom-O'Brien et al.
Genetic analysis of von Hippel-Lindau disease.
Hum Mutat. 2010 May

Nurden et al.
Mutation Analysis for a Patient with Glanzmann Thrombasthenia who Produced a Landmark Isoantibody to the alphaIIbbeta3 Integrin.
J Thromb Haemost. 2010 May

April, 2010

Rosa-Rosa et al.
Deep sequencing of target linkage assay-identified regions in familial breast cancer: methods, analysis pipeline and troubleshooting.
PLoS One. 2010 Apr

March, 2010

Aller et al.
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
Mol Vis. 2010 Mar

De Brakeleer et al.
Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.
Hum Mutat. 2010 Mar

Vernengo et al.
Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain.
Neuromuscul Disord. 2010 Mar

February, 2010

Chmara et al.
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
J Appl Genet. 2010

Crétien et al.
Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity.
Am J Hematol. 2010

Orrico et al.
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
Am J Med Genet A. 2010 Feb

JJ. Cassiman
Book chapter, Improving Quality and Harmonization of Standards in Clinical Genetic Services in Europe: The EuroGentest Network of Excellence. in Quality Issues in Clinical Genetic Services, Springer, 2010.

January, 2010

Debs et al.
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.
Arch Neurol. 2010 Jan

Ebberink et al.
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.
Hum Mutat. 2010 Jan

Philippe et al.
Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.
J Med Genet. 2010 Jan

Phylipsen et al.
Two new alpha1-globin gene point mutations: Hb Nedlands (HBA1:c.86C>T) [alpha28(B9)Ala-->Val] and Hb Queens Park (HBA1:c.98T>A) [alpha32(B13)Met-->Lys].
Hemoglobin. 2010 Jan

Taylor et al.
Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.
PLoS One. 2010 Jan

December, 2009

Jennes et al.
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).
Hum Mutat. 2009 Dec

Stenson et al.
The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics.
Hum Genomics. 2009 Dec

November, 2009

Caux-Moncoutier et al.
Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.
Eur J Hum Genet. 2009 Nov

García et al.
Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition.
Carcinogenesis. 2009 Nov

Genderen et al.
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
Am J Hum Genet. 2009 Nov

B. Hellen
Splice Site Tools A Comparative Analysis Report.

Laurie et al.
Effect of the F8 mutation c.1538-2A>T on pre-mRNA splicing.
Haemophilia. 2009 Nov

October, 2009

Maas et al.
Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.
J Med Genet. 2009 Oct

Nemos et al.
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
Clin Genet. 2009 Oct

September, 2009

Le Caignec et al.
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.
Eur J Hum Genet. 2009 Sep

July, 2009

Pallier et al.
No somatic genetic change in the paxillin gene in nonsmall-cell lung cancer.
Mol Carcinog. 2009 Jul

June, 2009

Arbogast et al.
Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment.
Ann Neurol. 2009 Jun

Cliffe et al.
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
Hum Mol Genet. 2009 Jun

May, 2009

Bidet et al.
Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.
J Clin Endocrinol Metab. 2009 May

April, 2009

Kim et al.
Molecular genetic characteristics of X-linked retinoschisis in Koreans.
Mol Vis. 2009

March, 2009

Depienne et al.
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
J Med Genet. 2009 Mar

July, 2008

Bonnet et al.
Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription-PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.
J Med Genet. 2008 Jul

November, 2007

Saugier-Veber et al.
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Hum Mutat. 2007 Nov

Presentations

October, 2011

ICHG/ASHG - Interactive Biosoftware contributed to a poster: "Cafe Variome: A novel platform for the routine exchange of genetic variation data" at the International Congress of Human Genetics in Montreal, Canada.

October, 2010

TECHGENE - Interactive Biosoftware gave a presentation: "Alamut and Next Generation Sequencing" at the TECHGENE Knowledge Network meeting in Utrecht, The Netherlands.

September, 2010

TCAG - Interactive Biosoftware gave a presentation: "Alamut: a Decision-Support System for Mutation Interpretation" at the TCAG New Technologies Seminar in Toronto, Canada.

June, 2010

CMGS/EMQN - Interactive Biosoftware gave a presentation: "The RefSeqGene/LRG genomic sequence standards" at the Joint CMGS/EMQN Laboratory Best Practice meeting for Neurofibromatosis Type 1 in Cardiff, UK.

May, 2010

HGM - Interactive Biosoftware presented a poster: "Systematic Building of Multiple Protein Alignments for Variant Interpretation" at the 14th Human Genome Meeting in Montpellier, France.

HVP - Interactive Biosoftware gave a presentation: "Collecting Variants with Alamut" at the 3rd Human Variome Project Meeting in Paris, France.

April, 2010

ATW - Interactive Biosoftware presented a poster: "Alamut - Mutation Interpretation Software" at the Ataxia-Telangiectasia Workshop 2010 in Los Angeles, CA, USA.

October, 2009

EURASNET - Interactive Biosoftware gave a presentation: "Splicing predictions with Alamut" at the Evaluation of bioinformatics predictions of splicing workshop in Paris, France.

January, 2008

Assises de Génétique - Interactive Biosoftware presented a poster: "Alamut - Logiciel d'aide à l'interprétation de mutations" at the 4èmes Assises de Génétique Humaine et Médicale in Lille, France.