N. Smaoui

发表

Effects of alkali addition on the mechanical properties and durability of concrete

Marc-André Bérubé, Benoit Fournier, Benoît Bissonnette, 2005 .

Clinical application of whole-exome sequencing across clinical indications

W. Chung, S. Bale, D. Pineda-Alvarez, 2015, Genetics in Medicine.

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

A. Barkovich, R. Vale, E. Leshinsky‐Silver, 2015, Annals of clinical and translational neurology.

MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.

I. Touitou, N. Smaoui, H. Chaabouni, 2007, Seminars in arthritis and rheumatism.

Prenatal diagnosis of chromosome disorders in Tunisian population.

N. Smaoui, L. B. Jemaa, H. Chaabouni, 2001, Annales de genetique.

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

P. Sieving, I. MacDonald, N. Smaoui, 2010, Human molecular genetics.

RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis.

P. Sieving, E. Wawrousek, N. Smaoui, 2004, Investigative ophthalmology & visual science.

Structural analysis of the minisatellite present at the 3' end of the human apolipoprotein B gene: new definition of the alleles and evolutionary implications.

C. Buresi, F. Cambien, N. Smaoui, 1996, Human molecular genetics.

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

N. Katsanis, E. Berson, S. Riazuddin, 2011, Investigative ophthalmology & visual science.

Clinical and genetic heterogeneity of crystalline retinopathies: report of two families without bietti crystalline dystrophy.

N. Smaoui, M. Meltzer, Chi-Chao Chan, 2007, Retinal cases & brief reports.

[Association between type 1 diabetes and polymorphism of the CTLA-4 gene in a Tunisian population].

S. Hmida, N. Smaoui, H. Chaabouni, 2001, Pathologie-biologie.

Molecular genetics of cataract.

N. Smaoui, J. Hejtmancik, J. Hejtmancik, 2003, Developments in ophthalmology.

DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome

Jie Ding, D. Crockett, R. Cotton, 2014, Pediatric Nephrology.

Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study.

P. Sieving, N. Smaoui, L. Ziccardi, 2009, Investigative ophthalmology & visual science.

Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene

N. Smaoui, A. Iannaccone, N. Kerr, 2015, Documenta Ophthalmologica.

De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations

S. Aradhya, M. Marble, N. Smaoui, 2011, American journal of medical genetics. Part A.

A candidate gene for familial Mediterranean fever

Jacques Demaille, Isabelle Touitou, Delphine Samson, 1997, Nature Genetics.

Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers

Audrey Y. Chu, M. McCarthy, M. Daly, 2020, Nature Medicine.

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

Javier Gracia Tabuenca, John D. Eicher, A. Auton, 2020, Nature.

Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.

E. Thorland, J. Graham, S. Kirmani, 2014, European journal of medical genetics.

Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata

John D. Eicher, M. Obeidat, K. Kristiansson, 2023, Nature Communications.

Genetic architecture of human plasma lipidome and its link to cardiovascular disease

Pietro Della Briotta Parolo, Javier Gracia Tabuenca, John D. Eicher, 2019, Nature Communications.

Advanced bone age in a girl with Wiedemann–Steiner syndrome and an exonic deletion in KMT2A (MLL)

A. Slavotinek, B. Mendelsohn, N. Smaoui, 2014, American journal of medical genetics. Part A.

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

S. Aradhya, N. Smaoui, G. Richard, 2012, Genetics in Medicine.

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

Matthew S. Lebo, Beryl B. Cummings, John D. Eicher, 2021, Nature Medicine.

A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.

N. Smaoui, J. Hejtmancik, H. Chaabouni, 2004, Investigative ophthalmology & visual science.

Peripheral retinal nonperfusion in septo-optic dysplasia (de Morsier syndrome).

J. Keenan, N. Smaoui, S. J. Lichtenstein, 2011, Archives of ophthalmology.

The role of polygenic risk and susceptibility genes in breast cancer over the course of life

Beryl B. Cummings, John D. Eicher, M. Pirinen, 2020, Nature Communications.

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

J. Weissenbach, A. Bernot, C. Cruaud, 1998, Human molecular genetics.

Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family

N. Smaoui, H. Chaabouni, M. Châabouni, 2005, Clinical dysmorphology.

Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.

H. Kallel, N. Smaoui, J. Hejtmancik, 2006, Investigative ophthalmology & visual science.

Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers

Audrey Y. Chu, M. McCarthy, M. Daly, 2020, Nature Medicine.

Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes

Beryl B. Cummings, John D. Eicher, Jonathan H. Chung, 2022, Communications Biology.

Influence of Specimen Geometry, Orientation of Casting Plane, and Mode of Concrete Consolidation on Expansion Due To ASR

Marc-André Bérubé, Benoit Fournier, Benoît Bissonnette, 2004 .

Evaluation of the expansion attained to date by concrete affected by alkalisilica reaction. Part II: Application to nonreinforced concrete specimens exposed outside

Nizar Smaoui, Marc-André Bérubé, Benoit Fournier, 2004 .

Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis

P. Sieving, Xinjing Wang, Jiyun Lee, 2013, Molecular vision.

Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene.

Austin Roorda, Kavitha Ratnam, Jacque L Duncan, 2011, Investigative ophthalmology & visual science.

Choroideremia: Analysis of the Retina from a Female Symptomatic Carrier

J. Hollyfield, P. Francis, V. Bonilha, 2008, Ophthalmic genetics.

The functional effect of pathogenic mutations in Rab escort protein 1.

I. MacDonald, N. Smaoui, Y. Sergeev, 2009, Mutation research.

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

I. MacDonald, S. Daiger, Xinjing Wang, 2011, Investigative ophthalmology & visual science.

A transcriptional Map of the FMF region.

G. Gyapay, N. Chiannilkulchai, C. Fizames, 1998, Genomics.

Genotypic diagnosis of familial Mediterranean fever (FMF) using new microsatellite markers: example of two extensive non-Ashkenazi Jewish pedigrees.

I. Touitou, C. Clépet, M. Delpech, 1997, Journal of medical genetics.

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

Audrey Y. Chu, M. Pirinen, M. McCarthy, 2020, European Journal of Human Genetics.

Evaluation of the expansion attained to date by concrete affected by alkali-silica reaction. Part I: Experimental study

Nizar Smaoui, Marc-André Bérubé, Benoit Fournier, 2004 .

Molecular Modeling of Retinoschisin and Functional Analysis of Pathogenic Mutations From X-Linked Retinoschisis

P. Sieving, I. MacDonald, N. Smaoui, 2010 .

[Epidemiologic and genetic study of trisomy 21 in Tunisia].

N. Smaoui, H. Chaabouni, F. Maazoul, 1999, La Tunisie medicale.

A FinnGen pilot clinical recall study for Alzheimer’s disease

Pietro Della Briotta Parolo, John D. Eicher, M. Obeidat, 2023, medRxiv.

Evaluation of the expansion attained to date by concrete affected by alkali–silica reaction. Part III: Application to existing structures

Nizar Smaoui, Marc-André Bérubé, Benoit Fournier, 2005 .

Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE).

P. Sieving, I. MacDonald, N. Smaoui, 2008, Archives of ophthalmology.

Baseline expression of immune gene modules in blood is associated with primary response to anti-TNF therapy in Crohn's disease patients

T. Ahmad, C. Anderson, M. Reppell, 2023, medRxiv.

Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers

Audrey Y. Chu, M. Daly, K. Kristiansson, 2020, Nature Medicine.

the genetic etiology

Beryl B. Cummings, John D. Eicher, W. M. van der Flier, 2023 .

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

I. MacDonald, S. Daiger, Xinjing Wang, 2011, Investigative ophthalmology & visual science.

De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations

S. Aradhya, M. Marble, N. Smaoui, 2011, American journal of medical genetics. Part A.

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

John D. Eicher, Audrey Y. Chu, M. Pirinen, 2019, European Journal of Human Genetics.

Whole Blood DNA Methylation Changes Are Associated with Anti-TNF Drug Concentration in Patients with Crohn’s Disease

T. Ahmad, J. Mill, M. Reppell, 2023, medRxiv.