| Year | Citation | Score | |||
|---|---|---|---|---|---|
| 2023 | Karam A, Delvallée C, Estrada-Cuzcano A, Geoffroy V, Lamouche JB, Leuvrey AS, Nourisson E, Tarabeux J, Stoetzel C, Scheidecker S, Porter LF, Génin E, Redon R, Sandron F, Boland A, ... ... Muller J, et al. WGS Revealed Novel Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects. International Journal of Molecular Sciences. 24. PMID 37240074 DOI: 10.3390/ijms24108729 | 0.317 | |||
| 2022 | Lejeune C, Robert-Viard C, Meunier-Beillard N, Borel MA, Gourvès L, Staraci S, Soilly AL, Guillemin F, Seror V, Achit H, Bouctot M, Asensio ML, Briffaut AS, Delmas C, Bruel AL, ... ... Muller J, et al. The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol. Frontiers in Genetics. 13: 852472. PMID 35444683 DOI: 10.3389/fgene.2022.852472 | 0.307 | |||
| 2021 | Geoffroy V, Guignard T, Kress A, Gaillard JB, Solli-Nowlan T, Schalk A, Gatinois V, Dollfus H, Scheidecker S, Muller J. AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis. Nucleic Acids Research. PMID 34023905 DOI: 10.1093/nar/gkab402 | 0.323 | |||
| 2021 | Okutman O, Tarabeux J, Muller J, Viville S. Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility. Genes. 12. PMID 33809228 DOI: 10.3390/genes12030410 | 0.311 | |||
| 2020 | Kousi M, Söylemez O, Ozanturk A, Mourtzi N, Akle S, Jungreis I, Muller J, Cassa CA, Brand H, Mokry JA, Wolf MY, Sadeghpour A, McFadden K, Lewis RA, Talkowski ME, et al. Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy. Nature Genetics. PMID 33046855 DOI: 10.1038/s41588-020-0707-1 | 0.572 | |||
| 2020 | Mauring L, Porter LF, Pelletier V, Riehm A, Leuvrey AS, Gouronc A, Studer F, Stoetzel C, Dollfus H, Muller J. Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in , Including a Variation. Frontiers in Genetics. 11: 938. PMID 32973878 DOI: 10.3389/Fgene.2020.00938 | 0.317 | |||
| 2020 | Kröll-Hermi A, Ebstein F, Stoetzel C, Geoffroy V, Schaefer E, Scheidecker S, Bär S, Takamiya M, Kawakami K, Zieba BA, Studer F, Pelletier V, Eyermann C, Speeg-Schatz C, Laugel V, ... ... Muller J, et al. Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress. Embo Molecular Medicine. e11861. PMID 32500975 DOI: 10.15252/Emmm.201911861 | 0.336 | |||
| 2020 | Gouronc A, Zilliox V, Jacquemont ML, Darcel F, Leuvrey AS, Nourisson E, Antin M, Alessandri JL, Doray B, Gueguen P, Payet F, Randrianaivo H, Stoetzel C, Scheidecker S, Flodrops H, ... ... Muller J, et al. High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3. Clinical Genetics. PMID 32361989 DOI: 10.1111/Cge.13768 | 0.352 | |||
| 2020 | Okutman Ö, Demirel C, Tülek F, Pfister V, Büyük U, Muller J, Charlet-Berguerand N, Viville S. Homozygous Splice Site Mutation in Causes Familial Oocyte Maturation Defect. Genes. 11. PMID 32244758 DOI: 10.3390/Genes11040382 | 0.334 | |||
| 2019 | Estrada-Cuzcano A, Etard C, Delvallée C, Stoetzel C, Schaefer E, Scheidecker S, Geoffroy V, Schneider A, Studer F, Mattioli F, Chennen K, Sigaudy S, Plassard D, Poch O, Piton A, ... ... Muller J, et al. Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish. Human Mutation. PMID 31549751 DOI: 10.1002/Humu.23924 | 0.382 | |||
| 2019 | Scheidecker S, Bär S, Stoetzel C, Geoffroy V, Lannes B, Rinaldi B, Fischer F, Becker HD, Pelletier V, Pagan C, Acquaviva-Bourdain C, Kremer S, Mirande M, Tranchant C, Muller J, et al. Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy. Human Mutation. PMID 31116475 DOI: 10.1002/Humu.23799 | 0.35 | |||
| 2019 | Rey T, Tarabeux J, Gerard B, Delbarre M, Le Béchec A, Stoetzel C, Prasad M, Laugel-Haushalter V, Kawczynski M, Muller J, Chelly J, Dollfus H, Manière MC, Bloch-Zupan A. Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement. Methods in Molecular Biology (Clifton, N.J.). 1922: 407-452. PMID 30838594 DOI: 10.1007/978-1-4939-9012-2_36 | 0.357 | |||
| 2019 | Schaefer E, Delvallée C, Mary L, Stoetzel C, Geoffroy V, Marks-Delesalle C, Holder-Espinasse M, Ghoumid J, Dollfus H, Muller J. Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome. Frontiers in Genetics. 10: 21. PMID 30761183 DOI: 10.3389/Fgene.2019.00021 | 0.336 | |||
| 2019 | Mary L, Chennen K, Stoetzel C, Antin M, Leuvrey AS, Nourisson E, Alanio-Detton E, Antal MC, Attie-Bitach T, Bouvagnet P, Bouvier R, Buenerd A, Clémenson A, Devisme L, Gasser B, ... ... Muller J, et al. Bardet-Biedl syndrome - tantenatal presentation of 45 fetuses with biallelic pathogenic variants in known BBS genes. Clinical Genetics. PMID 30614526 DOI: 10.1111/Cge.13500 | 0.319 | |||
| 2018 | Montagne L, Derhourhi M, Piton A, Toussaint B, Durand E, Vaillant E, Thuillier D, Gaget S, De Graeve F, Rabearivelo I, Lansiaux A, Lenne B, Sukno S, Desailloud R, Cnop M, ... ... Muller J, et al. CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability. Molecular Metabolism. PMID 29784605 DOI: 10.1016/J.Molmet.2018.05.005 | 0.329 | |||
| 2018 | Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bär S, Kröll A, Delbarre M, Antin M, Leuvrey AS, Henry C, Blanché H, Decker E, Kloth K, Klaus G, ... ... Muller J, et al. Whole genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140. Human Mutation. PMID 29688594 DOI: 10.1002/Humu.23539 | 0.425 | |||
| 2018 | Geoffroy V, Herenger Y, Kress A, Stoetzel C, Piton A, Dollfus H, Muller J. AnnotSV: An integrated tool for Structural Variations annotation. Bioinformatics (Oxford, England). PMID 29669011 DOI: 10.1093/Bioinformatics/Bty304 | 0.391 | |||
| 2017 | Okutman O, Muller J, Skory V, Garnier JM, Gaucherot A, Baert Y, Lamour V, Serdarogullari M, Gultomruk M, Röpke A, Kliesch S, Herbepin V, Aknin I, Benkhalifa M, Teletin M, et al. A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family. Journal of Assisted Reproduction and Genetics. PMID 28401488 DOI: 10.1007/S10815-017-0900-Z | 0.308 | |||
| 2017 | Quartier A, Poquet H, Gilbert-Dussardier B, Rossi M, Casteleyn AS, Portes VD, Feger C, Nourisson E, Kuentz P, Redin C, Thevenon J, Mosca-Boidron AL, Callier P, Muller J, Lesca G, et al. Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. European Journal of Human Genetics : Ejhg. PMID 28176767 DOI: 10.1038/Ejhg.2016.204 | 0.363 | |||
| 2016 | Mallaret M, Renaud M, Redin C, Drouot N, Muller J, Severac F, Mandel JL, Hamza W, Benhassine T, Ali-Pacha L, Tazir M, Durr A, Monin ML, Mignot C, Charles P, et al. Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases. Journal of Neurology. PMID 27142713 DOI: 10.1007/S00415-016-8112-5 | 0.325 | |||
| 2016 | Calmels N, Greff G, Obringer C, Kempf N, Gasnier C, Tarabeux J, Miguet M, Baujat G, Bessis D, Bretones P, Cavau A, Digeon B, Doco-Fenzy M, Doray B, Feillet F, ... ... Muller J, et al. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. Orphanet Journal of Rare Diseases. 11: 26. PMID 27004399 DOI: 10.1186/S13023-016-0408-0 | 0.359 | |||
| 2016 | Schaefer E, Stoetzel C, Scheidecker S, Geoffroy V, Prasad MK, Redin C, Missotte I, Lacombe D, Mandel JL, Muller J, Dollfus H. Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome. Journal of Human Genetics. PMID 26763875 DOI: 10.1038/Jhg.2015.162 | 0.344 | |||
| 2015 | Guissart C, Drouot N, Oncel I, Leheup B, Gershoni-Barush R, Muller J, Ferdinandusse S, Larrieu L, Anheim M, Arslan EA, Claustres M, Tranchant C, Topaloglu H, Koenig M. Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2). European Journal of Human Genetics : Ejhg. PMID 26669662 DOI: 10.1038/Ejhg.2015.259 | 0.313 | |||
| 2015 | Okutman O, Muller J, Baert Y, Serdarogullari M, Gultomruk M, Piton A, Rombaut C, Benkhalifa M, Teletin M, Skory V, Bakircioglu E, Goossens E, Bahceci M, Viville S. Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family. Human Molecular Genetics. 24: 5581-8. PMID 26199321 DOI: 10.1093/Hmg/Ddv290 | 0.359 | |||
| 2015 | Hamza W, Ali Pacha L, Hamadouche T, Muller J, Drouot N, Ferrat F, Makri S, Chaouch M, Tazir M, Koenig M, Benhassine T. Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia. Bmc Medical Genetics. 16: 36. PMID 26068213 DOI: 10.1186/S12881-015-0180-3 | 0.313 | |||
| 2015 | Stone GW, Maehara A, Muller JE, Rizik DG, Shunk KA, Ben-Yehuda O, Genereux P, Dressler O, Parvataneni R, Madden S, Shah P, Brilakis ES, Kini AS. Plaque Characterization to Inform the Prediction and Prevention of Periprocedural Myocardial Infarction During Percutaneous Coronary Intervention: The CANARY Trial (Coronary Assessment by Near-infrared of Atherosclerotic Rupture-prone Yellow). Jacc. Cardiovascular Interventions. 8: 927-36. PMID 26003018 DOI: 10.1016/j.jcin.2015.01.032 | 0.376 | |||
| 2015 | Geoffroy V, Pizot C, Redin C, Piton A, Vasli N, Stoetzel C, Blavier A, Laporte J, Muller J. VaRank: a simple and powerful tool for ranking genetic variants. Peerj. 3: e796. PMID 25780760 DOI: 10.7717/Peerj.796 | 0.39 | |||
| 2015 | Huckert M, Stoetzel C, Morkmued S, Laugel-Haushalter V, Geoffroy V, Muller J, Clauss F, Prasad MK, Obry F, Raymond JL, Switala M, Alembik Y, Soskin S, Mathieu E, Hemmerlé J, et al. Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. Human Molecular Genetics. 24: 3038-49. PMID 25669657 DOI: 10.1093/Hmg/Ddv053 | 0.371 | |||
| 2014 | Huckert M, Mecili H, Laugel-Haushalter V, Stoetzel C, Muller J, Flori E, Laugel V, Manière MC, Dollfus H, Bloch-Zupan A. A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome. Molecular Syndromology. 5: 293-8. PMID 25565929 DOI: 10.1159/000366252 | 0.346 | |||
| 2014 | Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, et al. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. Journal of Medical Genetics. 51: 724-36. PMID 25167861 DOI: 10.1136/Jmedgenet-2014-102554 | 0.406 | |||
| 2014 | Piton A, Poquet H, Redin C, Masurel A, Lauer J, Muller J, Thevenon J, Herenger Y, Chancenotte S, Bonnet M, Pinoit JM, Huet F, Thauvin-Robinet C, Jaeger AS, Le Gras S, et al. 20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition. European Journal of Human Genetics : Ejhg. 22: 776-83. PMID 24169519 DOI: 10.1038/Ejhg.2013.243 | 0.367 | |||
| 2014 | Scheidecker S, Etard C, Pierce NW, Geoffroy V, Schaefer E, Muller J, Chennen K, Flori E, Pelletier V, Poch O, Marion V, Stoetzel C, Strähle U, Nachury MV, Dollfus H. Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). Journal of Medical Genetics. 51: 132-6. PMID 24026985 DOI: 10.1136/Jmedgenet-2013-101785 | 0.4 | |||
| 2014 | Schaefer E, Lauer J, Durand M, Pelletier V, Obringer C, Claussmann A, Braun JJ, Redin C, Mathis C, Muller J, Schmidt-Mutter C, Flori E, Marion V, Stoetzel C, Dollfus H. Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations. Clinical Genetics. 85: 476-81. PMID 23692385 DOI: 10.1111/Cge.12198 | 0.321 | |||
| 2014 | M'hamdi O, Redin C, Stoetzel C, Ouertani I, Chaabouni M, Maazoul F, M'rad R, Mandel JL, Dollfus H, Muller J, Chaabouni H. Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: Defining a strategy for molecular diagnosis Clinical Genetics. 85: 172-177. PMID 23432027 DOI: 10.1111/Cge.12129 | 0.302 | |||
| 2012 | Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, ... ... Muller J, et al. Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. Journal of Medical Genetics. 49: 502-12. PMID 22773737 DOI: 10.1136/Jmedgenet-2012-100875 | 0.368 | |||
| 2012 | Elinati E, Kuentz P, Redin C, Jaber S, Vanden Meerschaut F, Makarian J, Koscinski I, Nasr-Esfahani MH, Demirol A, Gurgan T, Louanjli N, Iqbal N, Bisharah M, Pigeon FC, Gourabi H, ... ... Muller J, et al. Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. Human Molecular Genetics. 21: 3695-702. PMID 22653751 DOI: 10.1093/Hmg/Dds200 | 0.338 | |||
| 2012 | Luu TD, Rusu A, Walter V, Linard B, Poidevin L, Ripp R, Moulinier L, Muller J, Raffelsberger W, Wicker N, Lecompte O, Thompson JD, Poch O, Nguyen H. KD4v: Comprehensible Knowledge Discovery System for Missense Variant. Nucleic Acids Research. 40: W71-5. PMID 22641855 DOI: 10.1093/Nar/Gks474 | 0.408 | |||
| 2012 | Vasli N, Böhm J, Le Gras S, Muller J, Pizot C, Jost B, Echaniz-Laguna A, Laugel V, Tranchant C, Bernard R, Plewniak F, Vicaire S, Levy N, Chelly J, Mandel JL, et al. Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathologica. 124: 273-83. PMID 22526018 DOI: 10.1007/S00401-012-0982-8 | 0.361 | |||
| 2012 | Cowling BS, Toussaint A, Muller J, Laporte J. Defective membrane remodeling in neuromuscular diseases: insights from animal models. Plos Genetics. 8: e1002595. PMID 22496665 DOI: 10.1371/Journal.Pgen.1002595 | 0.322 | |||
| 2012 | Luu TD, Rusu AM, Walter V, Ripp R, Moulinier L, Muller J, Toursel T, Thompson JD, Poch O, Nguyen H. MSV3d: database of human MisSense Variants mapped to 3D protein structure. Database : the Journal of Biological Databases and Curation. 2012: bas018. PMID 22491796 DOI: 10.1093/Database/Bas018 | 0.408 | |||
| 2012 | Powell S, Szklarczyk D, Trachana K, Roth A, Kuhn M, Muller J, Arnold R, Rattei T, Letunic I, Doerks T, Jensen LJ, von Mering C, Bork P. eggNOG v3.0: orthologous groups covering 1133 organisms at 41 different taxonomic ranges. Nucleic Acids Research. 40: D284-9. PMID 22096231 DOI: 10.1093/Nar/Gkr1060 | 0.735 | |||
| 2011 | Schaefer E, Zaloszyc A, Lauer J, Durand M, Stutzmann F, Perdomo-Trujillo Y, Redin C, Bennouna Greene V, Toutain A, Perrin L, Gérard M, Caillard S, Bei X, Lewis RA, Christmann D, ... ... Muller J, et al. Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. Molecular Syndromology. 1: 273-281. PMID 22190896 DOI: 10.1159/000331268 | 0.31 | |||
| 2011 | Bloch-Zupan A, Jamet X, Etard C, Laugel V, Muller J, Geoffroy V, Strauss JP, Pelletier V, Marion V, Poch O, Strahle U, Stoetzel C, Dollfus H. Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects. American Journal of Human Genetics. 89: 773-81. PMID 22152679 DOI: 10.1016/J.Ajhg.2011.11.002 | 0.346 | |||
| 2011 | Creevey CJ, Muller J, Doerks T, Thompson JD, Arendt D, Bork P. Identifying single copy orthologs in Metazoa. Plos Computational Biology. 7: e1002269. PMID 22144877 DOI: 10.1371/Journal.Pcbi.1002269 | 0.804 | |||
| 2011 | Trachana K, Larsson TA, Powell S, Chen WH, Doerks T, Muller J, Bork P. Orthology prediction methods: a quality assessment using curated protein families. Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology. 33: 769-80. PMID 21853451 DOI: 10.1002/Bies.201100062 | 0.75 | |||
| 2011 | Arumugam M, Raes J, Pelletier E, Le Paslier D, Yamada T, Mende DR, Fernandes GR, Tap J, Bruls T, Batto JM, Bertalan M, Borruel N, Casellas F, Fernandez L, Gautier L, ... ... Muller J, et al. Enterotypes of the human gut microbiome. Nature. 473: 174-80. PMID 21508958 DOI: 10.1038/Nature09944 | 0.736 | |||
| 2011 | Koscinski I, Elinati E, Fossard C, Redin C, Muller J, Velez de la Calle J, Schmitt F, Ben Khelifa M, Ray PF, Ray P, Kilani Z, Barratt CL, Viville S. DPY19L2 deletion as a major cause of globozoospermia. American Journal of Human Genetics. 88: 344-50. PMID 21397063 DOI: 10.1016/J.Ajhg.2011.01.018 | 0.314 | |||
| 2011 | Colbourne JK, Pfrender ME, Gilbert D, Thomas WK, Tucker A, Oakley TH, Tokishita S, Aerts A, Arnold GJ, Basu MK, Bauer DJ, Cáceres CE, Carmel L, Casola C, Choi JH, ... ... Muller J, et al. The ecoresponsive genome of Daphnia pulex. Science (New York, N.Y.). 331: 555-61. PMID 21292972 DOI: 10.1126/Science.1197761 | 0.733 | |||
| 2011 | Szklarczyk D, Franceschini A, Kuhn M, Simonovic M, Roth A, Minguez P, Doerks T, Stark M, Muller J, Bork P, Jensen LJ, von Mering C. The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored. Nucleic Acids Research. 39: D561-8. PMID 21045058 DOI: 10.1093/Nar/Gkq973 | 0.772 | |||
| 2011 | Fradin M, Stoetzel C, Muller J, Koob M, Christmann D, Debry C, Kohler M, Isnard M, Astruc D, Desprez P, Zorres C, Flori E, Dollfus H, Doray B. Osteosclerotic bone dysplasia in siblings with a Fam20C mutation. Clinical Genetics. 80: 177-83. PMID 20825432 DOI: 10.1111/J.1399-0004.2010.01516.X | 0.313 | |||
| 2010 | Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, et al. Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Human Genetics. 127: 583-93. PMID 20177705 DOI: 10.1007/S00439-010-0804-9 | 0.34 | |||
| 2010 | Werren JH, Richards S, Desjardins CA, Niehuis O, Gadau J, Colbourne JK, Werren JH, Richards S, Desjardins CA, Niehuis O, Gadau J, Colbourne JK, Beukeboom LW, Desplan C, ... ... Muller J, et al. Functional and evolutionary insights from the genomes of three parasitoid Nasonia species. Science (New York, N.Y.). 327: 343-8. PMID 20075255 DOI: 10.1126/Science.1178028 | 0.725 | |||
| 2010 | Muller J, Creevey CJ, Thompson JD, Arendt D, Bork P. AQUA: automated quality improvement for multiple sequence alignments. Bioinformatics (Oxford, England). 26: 263-5. PMID 19926669 DOI: 10.1093/Bioinformatics/Btp651 | 0.685 | |||
| 2010 | Friedrich A, Garnier N, Gagnière N, Nguyen H, Albou LP, Biancalana V, Bettler E, Deléage G, Lecompte O, Muller J, Moras D, Mandel JL, Toursel T, Moulinier L, Poch O. SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases. Human Mutation. 31: 127-35. PMID 19921752 DOI: 10.1002/Humu.21155 | 0.403 | |||
| 2010 | Muller J, Szklarczyk D, Julien P, Letunic I, Roth A, Kuhn M, Powell S, von Mering C, Doerks T, Jensen LJ, Bork P. eggNOG v2.0: extending the evolutionary genealogy of genes with enhanced non-supervised orthologous groups, species and functional annotations. Nucleic Acids Research. 38: D190-5. PMID 19900971 DOI: 10.1093/Nar/Gkp951 | 0.79 | |||
| 2009 | Jensen LJ, Kuhn M, Stark M, Chaffron S, Creevey C, Muller J, Doerks T, Julien P, Roth A, Simonovic M, Bork P, von Mering C. STRING 8--a global view on proteins and their functional interactions in 630 organisms. Nucleic Acids Research. 37: D412-6. PMID 18940858 DOI: 10.1093/Nar/Gkn760 | 0.759 | |||
| 2008 | Foerstner KU, Doerks T, Muller J, Raes J, Bork P. A nitrile hydratase in the eukaryote Monosiga brevicollis. Plos One. 3: e3976. PMID 19096720 DOI: 10.1371/Journal.Pone.0003976 | 0.789 | |||
| 2008 | Becker JA, Befort K, Blad C, Filliol D, Ghate A, Dembele D, Thibault C, Koch M, Muller J, Lardenois A, Poch O, Kieffer BL. Transcriptome analysis identifies genes with enriched expression in the mouse central extended amygdala. Neuroscience. 156: 950-65. PMID 18786617 DOI: 10.1016/J.Neuroscience.2008.07.070 | 0.378 | |||
| 2008 | Jensen LJ, Julien P, Kuhn M, von Mering C, Muller J, Doerks T, Bork P. eggNOG: automated construction and annotation of orthologous groups of genes. Nucleic Acids Research. 36: D250-4. PMID 17942413 DOI: 10.1093/Nar/Gkm796 | 0.805 | |||
| 2007 | Muller J, Mehlen A, Vetter G, Yatskou M, Muller A, Chalmel F, Poch O, Friederich E, Vallar L. Design and evaluation of Actichip, a thematic microarray for the study of the actin cytoskeleton. Bmc Genomics. 8: 294. PMID 17727702 DOI: 10.1186/1471-2164-8-294 | 0.395 | |||
| 2007 | Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, et al. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. American Journal of Human Genetics. 80: 1-11. PMID 17160889 DOI: 10.1086/510256 | 0.401 | |||
| 2006 | Dollfus H, Muller J, Stoetzel C, Laurier V, Bonneau D, Mégarbané A, Poch O, Mandel JL. [Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]. MéDecine Sciences : M/S. 22: 901-4. PMID 17101080 DOI: 10.1051/Medsci/20062211901 | 0.328 | |||
| 2006 | Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, Salem N, Chouery E, Poch O, Licaire S, Danse JM, Amati-Bonneau P, Bonneau D, Mégarbané A, Mandel JL, et al. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. European Journal of Human Genetics : Ejhg. 14: 1195-203. PMID 16823392 DOI: 10.1038/Sj.Ejhg.5201688 | 0.39 | |||
| 2006 | Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, et al. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nature Genetics. 38: 521-4. PMID 16582908 DOI: 10.1038/Ng1771 | 0.382 | |||
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