| Year |
Citation |
Score |
| 2022 |
Szenker-Ravi E, Ott T, Khatoo M, de Bellaing AM, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, ... ... Reversade B, et al. Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates. Nature Genetics. PMID 35304595 DOI: 10.1038/s41588-022-01053-8 |
0.513 |
|
| 2021 |
Szenker-Ravi E, Ott T, Khatoo M, de Bellaing AM, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, ... ... Reversade B, et al. Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates. Nature Genetics. PMID 34903892 DOI: 10.1038/s41588-021-00970-4 |
0.558 |
|
| 2020 |
Elouej S, Harhouri K, Le Mao M, Baujat G, Nampoothiri S, Kayserili H, Menabawy NA, Selim L, Paneque AL, Kubisch C, Lessel D, Rubinsztajn R, Charar C, Bartoli C, Airault C, ... ... Reversade B, et al. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology. Nature Communications. 11: 4589. PMID 32917887 DOI: 10.1038/S41467-020-18146-9 |
0.332 |
|
| 2020 |
Al Sayed ZR, Canac R, Cimarosti B, Bonnard C, Gourraud JB, Hamamy H, Kayserili H, Girardeau A, Jouni M, Jacob N, Gaignerie A, Chariau C, David L, Forest V, Marionneau C, ... ... Reversade B, et al. Human model of IRX5 mutations reveals key role for this transcription factor in ventricular conduction. Cardiovascular Research. PMID 32898233 DOI: 10.1093/Cvr/Cvaa259 |
0.33 |
|
| 2020 |
Bonnard C, Navaratnam N, Ghosh K, Chan PW, Tan TT, Pomp O, Ng AYJ, Tohari S, Changede R, Carling D, Venkatesh B, Altunoglu U, Kayserili H, Reversade B. A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling. The Journal of Experimental Medicine. 217. PMID 32845958 DOI: 10.1084/Jem.20191561 |
0.395 |
|
| 2020 |
Koh AL, Bonnard C, Lim JY, Liew WK, Thoon KC, Thomas T, Ali NAB, Ng AYJ, Tohari S, Phua KB, Venkatesh B, Reversade B, Jamuar SS. Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome? American Journal of Medical Genetics. Part A. PMID 32657013 DOI: 10.1002/Ajmg.A.61758 |
0.353 |
|
| 2020 |
Escande-Beillard N, Loh A, Saleem SN, Kanata K, Hashimoto Y, Altunoglu U, Metoska A, Grandjean J, Ng FM, Pomp O, Baburajendran N, Wong J, Hill J, Beillard E, Cozzone P, ... ... Reversade B, et al. Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2. Neuron. PMID 32330411 DOI: 10.1016/J.Neuron.2020.03.028 |
0.316 |
|
| 2020 |
Vidal VP, Jian Motamedi F, Rekima S, Gregoire EP, Szenker-Ravi E, Leushacke M, Reversade B, Chaboissier MC, Schedl A. R-spondin signalling is essential for the maintenance and differentiation of mouse nephron progenitors. Elife. 9. PMID 32324134 DOI: 10.7554/Elife.53895 |
0.381 |
|
| 2020 |
Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, ... ... Reversade B, et al. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nature Communications. 11: 595. PMID 32001716 DOI: 10.1038/S41467-020-14360-7 |
0.358 |
|
| 2019 |
Drutman SB, Haerynck F, Zhong FL, Hum D, Hernandez NJ, Belkaya S, Rapaport F, de Jong SJ, Creytens D, Tavernier SJ, Bonte K, De Schepper S, van der Werff Ten Bosch J, Lorenzo-Diaz L, Wullaert A, ... ... Reversade B, et al. Homozygous gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis. Proceedings of the National Academy of Sciences of the United States of America. PMID 31484767 DOI: 10.1073/Pnas.1906184116 |
0.341 |
|
| 2019 |
Dion C, Roche S, Laberthonnière C, Broucqsault N, Mariot V, Xue S, Gurzau AD, Nowak A, Gordon CT, Gaillard MC, El-Yazidi C, Thomas M, Schlupp-Robaglia A, Missirian C, Malan V, ... ... Reversade B, et al. SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite. Nucleic Acids Research. PMID 30698748 DOI: 10.1093/Nar/Gkz005 |
0.3 |
|
| 2018 |
Gong Q, Long Z, Zhong FL, Teo DET, Jin Y, Yin Z, Boo ZZ, Zhang Y, Zhang J, Yang R, Bhushan S, Reversade B, Li Z, Wu B. Structural basis of RIP2 activation and signaling. Nature Communications. 9: 4993. PMID 30478312 DOI: 10.1038/S41467-018-07447-9 |
0.36 |
|
| 2018 |
Shboul M, Roschger P, Ganger R, Paschalis L, Rokidi S, Zandieh S, Behunova J, Muschitz C, Fahrleitner-Pammer A, Ng AYJ, Tohari S, Venkatesh B, Bonnard C, Reversade B, Klaushofer K, et al. Bone matrix hypermineralization associated with low bone turnover in a case of Nasu-Hakola disease. Bone. PMID 30316000 DOI: 10.1016/J.Bone.2018.10.008 |
0.309 |
|
| 2018 |
Zhong FL, Robinson K, Teo DET, Tan KY, Lim C, Harapas CR, Yu CH, Xie WH, Sobota RM, Au VB, Hopkins R, D'Osualdo A, Reed JC, Connolly JE, Masters SL, ... Reversade B, et al. Human DPP9 represses NLRP1 inflammasome and protects against auto-inflammatory diseases via both peptidase activity and FIIND domain binding. The Journal of Biological Chemistry. PMID 30291141 DOI: 10.1074/Jbc.Ra118.004350 |
0.379 |
|
| 2018 |
Chia PH, Zhong FL, Niwa S, Bonnard C, Utami KH, Zeng R, Lee H, Eskin A, Nelson SF, Xie WH, Al-Tawalbeh S, El-Khateeb M, Shboul M, Pouladi MA, Al-Raqad M, ... Reversade B, et al. A homozygous loss-of-function mutation causes growth delay, frequent seizures and severe intellectual disability. Elife. 7. PMID 29784083 DOI: 10.7554/Elife.32451 |
0.337 |
|
| 2018 |
Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefèvre C, Khatoo M, Thi Tran H, Naert T, Noelanders R, Hajamohideen A, Beneteau C, de Sousa SB, Karaman B, Latypova X, Başaran S, Yücel EB, ... ... Reversade B, et al. RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6. Nature. PMID 29769720 DOI: 10.1038/S41586-018-0118-Y |
0.402 |
|
| 2018 |
Gurzau AD, Chen K, Xue S, Dai W, Lucet IS, Ly TTN, Reversade B, Blewitt ME, Murphy JM. FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function. The Journal of Biological Chemistry. PMID 29748383 DOI: 10.1074/Jbc.Ra118.003104 |
0.35 |
|
| 2018 |
Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, ... ... Reversade B, et al. Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. European Journal of Medical Genetics. PMID 29605658 DOI: 10.1016/J.Ejmg.2018.03.012 |
0.331 |
|
| 2018 |
Yamauchi T, Masuda T, Canver MC, Seiler M, Semba Y, Shboul M, Al-Raqad M, Maeda M, Schoonenberg VAC, Cole MA, Macias-Trevino C, Ishikawa Y, Yao Q, Nakano M, Arai F, ... ... Reversade B, et al. Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPS. Cancer Cell. PMID 29478914 DOI: 10.1016/J.Ccell.2018.01.012 |
0.304 |
|
| 2018 |
Cai S, Robinson K, Tan E, Tey H, Reversade B, Zhong F. 901 Inflammasome signaling and translocation of apoptotic speck-like protein containing a caspase activation and recruitment domain (ASC) in psoriatic keratinocytes Journal of Investigative Dermatology. 138: S153. DOI: 10.1016/J.Jid.2018.03.913 |
0.328 |
|
| 2017 |
Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistienė L, Delafontaine J, Guex N, ... ... Reversade B, et al. KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. American Journal of Human Genetics. PMID 29290337 DOI: 10.1016/J.Ajhg.2017.12.002 |
0.327 |
|
| 2017 |
Chourabi M, Liew MS, Lim S, H'mida-Ben Brahim D, Boussofara L, Dai L, Wong PM, Foo JN, Sriha B, Robinson KS, Denil S, Common JE, Mamaï O, Ben Khalifa Y, Bollen M, ... ... Reversade B, et al. ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis. The Journal of Investigative Dermatology. PMID 28964717 DOI: 10.1016/J.Jid.2017.08.045 |
0.354 |
|
| 2017 |
Sharma B, Ho L, Ford GH, Chen HI, Goldstone AB, Woo YJ, Quertermous T, Reversade B, Red-Horse K. Alternative Progenitor Cells Compensate to Rebuild the Coronary Vasculature in Elabela- and Apj-Deficient Hearts. Developmental Cell. PMID 28890073 DOI: 10.1016/J.Devcel.2017.08.008 |
0.324 |
|
| 2017 |
Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, Ng AYJ, Lu H, Tohari S, Talib SZA, van Hul N, Caldez MJ, Van Maldergem L, ... ... Reversade B, et al. CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays. American Journal of Human Genetics. 101: 391-403. PMID 28886341 DOI: 10.1016/J.Ajhg.2017.08.003 |
0.375 |
|
| 2017 |
Xue S, Maluenda J, Marguet F, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, ... ... Reversade B, et al. Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita. American Journal of Human Genetics. PMID 28318499 DOI: 10.1016/J.Ajhg.2017.02.006 |
0.364 |
|
| 2017 |
Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, ... ... Reversade B, et al. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. Journal of Medical Genetics. PMID 28289185 DOI: 10.1136/Jmedgenet-2016-104436 |
0.324 |
|
| 2017 |
Jin M, Pomp O, Shinoda T, Toba S, Torisawa T, Furuta K, Oiwa K, Yasunaga T, Kitagawa D, Matsumura S, Miyata T, Tan TT, Reversade B, Hirotsune S. Katanin p80, NuMA and cytoplasmic dynein cooperate to control microtubule dynamics. Scientific Reports. 7: 39902. PMID 28079116 DOI: 10.1038/Srep39902 |
0.322 |
|
| 2017 |
Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, ... ... Reversade B, et al. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nature Genetics. PMID 28067911 DOI: 10.1038/Ng.3765 |
0.372 |
|
| 2017 |
Xue S, Reversade B. Building a nose: Mutations in an epigenetic regulator cause congenital arhinia Mechanisms of Development. 145: S38. DOI: 10.1016/J.Mod.2017.04.053 |
0.314 |
|
| 2017 |
Szenker E, Bellaing AMd, Narasimhan V, Roy S, Attie-Bitach T, Bouvagnet P, Reversade B. TOUT-DE-TRAVERS (TDT): A novel protease mutated in patients with heterotaxy drives left-right asymmetry upstream of Nodal signalling Mechanisms of Development. 145. DOI: 10.1016/J.Mod.2017.04.048 |
0.325 |
|
| 2017 |
Bosso-Lefèvre C, Yu E, Grady G, Szenker E, Jamuar SS, Muriello M, Gunay-Aygun M, Koolen D, Lefeber D, Hengel H, Schoels L, Simpson M, Ciruna B, Reversade B. UGDH germline loss-of-function mutations cause epilepsy and global developmental delay Mechanisms of Development. 145: S26-S27. DOI: 10.1016/J.Mod.2017.04.016 |
0.314 |
|
| 2016 |
Perez-Camps M, Tian J, Chng SC, Sem KP, Sudhaharan T, Teh C, Wachsmuth M, Korzh V, Ahmed S, Reversade B. Quantitative imaging reveals real-time Pou5f3-Nanog complexes driving dorsoventral mesendoderm patterning in zebrafish. Elife. 5. PMID 27684073 DOI: 10.7554/Elife.11475 |
0.322 |
|
| 2016 |
Zhong FL, Mamaï O, Sborgi L, Boussofara L, Hopkins R, Robinson K, Szeverényi I, Takeichi T, Balaji R, Lau A, Tye H, Roy K, Bonnard C, Ahl PJ, Jones LA, ... ... Reversade B, et al. Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation. Cell. 167: 187-202.e17. PMID 27662089 DOI: 10.1016/J.Cell.2016.09.001 |
0.329 |
|
| 2016 |
Cetinkaya A, Xiong JR, Vargel İ, Kösemehmetoğlu K, Canter Hİ, Gerdan ÖF, Longo N, Alzahrani A, Camps MP, Taskiran EZ, Laupheimer S, Botto LD, Paramalingam E, Gormez Z, Uz E, ... ... Reversade B, et al. Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling. American Journal of Human Genetics. 99: 299-317. PMID 27476657 DOI: 10.1016/J.Ajhg.2016.06.008 |
0.344 |
|
| 2016 |
Cain CJ, Gaborit N, Lwin W, Barruet E, Ho S, Bonnard C, Hamamy H, Shboul M, Reversade B, Kayserili H, Bruneau BG, Hsiao EC. Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization. Bone Reports. 5: 86-95. PMID 27453922 DOI: 10.1016/J.Bonr.2016.02.005 |
0.315 |
|
| 2016 |
Deshwar AR, Chng SC, Ho L, Reversade B, Scott IC. The Apelin receptor enhances Nodal/TGFβ signaling to ensure proper cardiac development. Elife. 5. PMID 27077952 DOI: 10.7554/Elife.13758 |
0.382 |
|
| 2016 |
Oud MM, Bonnard C, Mans DA, Altunoglu U, Tohari S, Ng AY, Eskin A, Lee H, Rupar CA, de Wagenaar NP, Wu KM, Lahiry P, Pazour GJ, Nelson SF, Hegele RA, ... ... Reversade B, et al. A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome. Cilia. 5: 8. PMID 27069622 DOI: 10.1186/S13630-016-0029-1 |
0.317 |
|
| 2016 |
Murza A, Sainsily X, Coquerel D, Côté J, Marx P, Besserer-Offroy É, Longpre JM, Lainé J, Reversade B, Salvail D, Leduc R, Dumaine R, Lesur O, Auger-Messier M, Sarret P, et al. Discovery and Structure-Activity Relationship of a Bioactive Fragment of ELABELA that Modulates Vascular and Cardiac Functions. Journal of Medicinal Chemistry. PMID 26986036 DOI: 10.1021/Acs.Jmedchem.5B01549 |
0.339 |
|
| 2016 |
Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, ... ... Reversade B, et al. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. American Journal of Human Genetics. PMID 26833328 DOI: 10.1016/J.Ajhg.2015.12.015 |
0.351 |
|
| 2015 |
Zhou F, Narasimhan V, Shboul M, Chong YL, Reversade B, Roy S. Gmnc Is a Master Regulator of the Multiciliated Cell Differentiation Program. Current Biology : Cb. PMID 26778655 DOI: 10.1016/J.Cub.2015.10.062 |
0.409 |
|
| 2015 |
Ho L, Tan SY, Wee S, Wu Y, Tan SJ, Ramakrishna NB, Chng SC, Nama S, Sczerbineska I, Chan W, Avery S, Tsuneyoshi N, Ng HH, Gunaratne J, Dunn NR, ... Reversade B, et al. ELABELA Is an Endogenous Growth Factor that Sustains hESC Self-Renewal via the PI3K/AKT Pathway. Cell Stem Cell. PMID 26387754 DOI: 10.1016/J.Stem.2015.08.010 |
0.381 |
|
| 2015 |
Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, ... ... Reversade B, et al. Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. American Journal of Human Genetics. 97: 483-92. PMID 26320891 DOI: 10.1016/J.Ajhg.2015.08.001 |
0.338 |
|
| 2015 |
Helker CS, Schuermann A, Pollmann C, Chng SC, Kiefer F, Reversade B, Herzog W. The hormonal peptide Elabela guides angioblasts to the midline during vasculogenesis. Elife. 4. PMID 26017639 DOI: 10.7554/Elife.06726 |
0.3 |
|
| 2015 |
Ng CK, Shboul M, Taverniti V, Bonnard C, Lee H, Eskin A, Nelson SF, Al-Raqad M, Altawalbeh S, Séraphin B, Reversade B. Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects. Human Molecular Genetics. 24: 3163-71. PMID 25712129 DOI: 10.1093/Hmg/Ddv067 |
0.348 |
|
| 2014 |
Hu WF, Pomp O, Ben-Omran T, Kodani A, Henke K, Mochida GH, Yu TW, Woodworth MB, Bonnard C, Raj GS, Tan TT, Hamamy H, Masri A, Shboul M, Al Saffar M, ... ... Reversade B, et al. Katanin p80 regulates human cortical development by limiting centriole and cilia number. Neuron. 84: 1240-57. PMID 25521379 DOI: 10.1016/J.Neuron.2014.12.017 |
0.414 |
|
| 2014 |
Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, et al. C5orf42 is the major gene responsible for OFD syndrome type VI. Human Genetics. 133: 367-77. PMID 24178751 DOI: 10.1007/S00439-013-1385-1 |
0.32 |
|
| 2013 |
Chng SC, Ho L, Tian J, Reversade B. ELABELA: a hormone essential for heart development signals via the apelin receptor. Developmental Cell. 27: 672-80. PMID 24316148 DOI: 10.1016/J.Devcel.2013.11.002 |
0.385 |
|
| 2013 |
Jodoin JN, Shboul M, Albrecht TR, Lee E, Wagner EJ, Reversade B, Lee LA. The snRNA-processing complex, Integrator, is required for ciliogenesis and dynein recruitment to the nuclear envelope via distinct mechanisms. Biology Open. 2: 1390-6. PMID 24285713 DOI: 10.1242/Bio.20136981 |
0.305 |
|
| 2013 |
Jodoin JN, Sitaram P, Albrecht TR, May SB, Shboul M, Lee E, Reversade B, Wagner EJ, Lee LA. Nuclear-localized Asunder regulates cytoplasmic dynein localization via its role in the integrator complex. Molecular Biology of the Cell. 24: 2954-65. PMID 23904267 DOI: 10.1091/Mbc.E13-05-0254 |
0.306 |
|
| 2012 |
Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, ... ... Reversade B, et al. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nature Genetics. 44: 1272-6. PMID 23064416 DOI: 10.1038/Ng.2444 |
0.351 |
|
| 2012 |
Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, Ababneh OH, Uz E, Güran T, Kayserili H, Hamamy H, Reversade B. Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. Nature Genetics. 44: 709-13. PMID 22581230 DOI: 10.1038/Ng.2259 |
0.397 |
|
| 2011 |
Goudie DR, D'Alessandro M, Merriman B, Lee H, Szeverényi I, Avery S, O'Connor BD, Nelson SF, Coats SE, Stewart A, Christie L, Pichert G, Friedel J, Hayes I, Burrows N, ... ... Reversade B, et al. Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. Nature Genetics. 43: 365-9. PMID 21358634 DOI: 10.1038/Ng.780 |
0.343 |
|
| 2011 |
Goudie DR, D'Alessandro M, Merriman B, Lee H, Szeverényi I, Avery S, O'Connor BD, Nelson SF, Coats SE, Stewart AA, Christie L, Pichert G, Friedel J, Hayes I, Burrows N, ... ... Reversade B, et al. Abstract LB-245: Loss of function of the TGFβRI receptor leads to the spontaneously regressing squamous carcinoma condition, multiple self-healing squamous epithelioma (Ferguson-Smith disease) Cancer Research. 71. DOI: 10.1158/1538-7445.Am2011-Lb-245 |
0.344 |
|
| 2011 |
Ho L, Shboul M, Reversade B, Shen K, Masri A, Merriman B. To see, or not to see: In the eye of Retinol and STRA6 signaling Developmental Biology. 356: 161. DOI: 10.1016/J.Ydbio.2011.05.595 |
0.334 |
|
| 2010 |
Tian J, Ling L, Shboul M, Lee H, O'Connor B, Merriman B, Nelson SF, Cool S, Ababneh OH, Al-Hadidy A, Masri A, Hamamy H, Reversade B. Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling. American Journal of Human Genetics. 87: 768-78. PMID 21129727 DOI: 10.1016/J.Ajhg.2010.11.005 |
0.405 |
|
| 2010 |
Bonnard C, Merriman B, Lee H, Kayserili H, Akarsu N, Strobl A, Shboul M, Hamamy H, Reversade B. P106. Congenital hypertelorism and osteopenia: A novel autosomal recessive disease Differentiation. 80. DOI: 10.1016/J.Diff.2010.09.112 |
0.375 |
|
| 2010 |
Tian J, Ling L, Shboul M, Lee H, O'Connor B, Merriman B, Nelson SF, Cool S, Ababneh OH, Al-Hadidy A, Masri A, Hamamy H, Reversade B. P98. Raiders of the lost FRINGE Differentiation. 80: S50. DOI: 10.1016/J.Diff.2010.09.104 |
0.379 |
|
| 2010 |
Tian AJ, Ling L, Shboul M, Lee H, O'Connor B, Merriman B, Nelson SF, Cool S, Ababneh OH, Al-Hadidy A, Masri A, Hamamy H, Reversade B. P97. Loss of CHSY1, a novel FRINGE enzyme, causes syndromic brachydactyly via increased NOTCH signaling Differentiation. 80. DOI: 10.1016/J.Diff.2010.09.103 |
0.387 |
|
| 2010 |
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Li Y, Kayserili H, Al-Gazali L, Brancati F, Lee H, O'Connor B, Kornak U, O'Connor B, Schmidt-von Kegler M, Merriman B, Nelson S, et al. Mutations in Pycr1 cause progeroid changes in skin and bone due to reduced mitochondrial stress resistance Bone. 47: S154-S155. DOI: 10.1016/J.Bone.2010.04.356 |
0.515 |
|
| 2009 |
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, et al. Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics. 41: 1016-21. PMID 19648921 DOI: 10.1038/Ng.413 |
0.321 |
|
| 2007 |
Sander V, Reversade B, De Robertis EM. The opposing homeobox genes Goosecoid and Vent1/2 self-regulate Xenopus patterning. The Embo Journal. 26: 2955-65. PMID 17525737 DOI: 10.1038/Sj.Emboj.7601705 |
0.564 |
|
| 2006 |
Lee HX, Ambrosio AL, Reversade B, De Robertis EM. Embryonic dorsal-ventral signaling: secreted frizzled-related proteins as inhibitors of tolloid proteinases. Cell. 124: 147-59. PMID 16413488 DOI: 10.1016/J.Cell.2005.12.018 |
0.665 |
|
| 2005 |
Reversade B, De Robertis EM. Regulation of ADMP and BMP2/4/7 at opposite embryonic poles generates a self-regulating morphogenetic field. Cell. 123: 1147-60. PMID 16360041 DOI: 10.1016/J.Cell.2005.08.047 |
0.58 |
|
| 2005 |
Reversade B, Kuroda H, Lee H, Mays A, De Robertis EM. Depletion of Bmp2, Bmp4, Bmp7 and Spemann organizer signals induces massive brain formation in Xenopus embryos. Development (Cambridge, England). 132: 3381-92. PMID 15975940 DOI: 10.1242/Dev.01901 |
0.761 |
|
| 2005 |
Kuroda H, Fuentealba L, Ikeda A, Reversade B, De Robertis EM. Default neural induction: neuralization of dissociated Xenopus cells is mediated by Ras/MAPK activation. Genes & Development. 19: 1022-7. PMID 15879552 DOI: 10.1101/Gad.1306605 |
0.73 |
|
| 2005 |
Zakin L, Reversade B, Kuroda H, Lyons KM, De Robertis EM. Sirenomelia in Bmp7 and Tsg compound mutant mice: requirement for Bmp signaling in the development of ventral posterior mesoderm. Development (Cambridge, England). 132: 2489-99. PMID 15843411 DOI: 10.1242/Dev.01822 |
0.744 |
|
| 2003 |
Oelgeschläger M, Reversade B, LarraÃn J, Little S, Mullins MC, De Robertis EM. The pro-BMP activity of Twisted gastrulation is independent of BMP binding. Development (Cambridge, England). 130: 4047-56. PMID 12874126 DOI: 10.1242/Dev.00633 |
0.605 |
|
| 2003 |
Oelgeschläger M, Kuroda H, Reversade B, De Robertis EM. Chordin is required for the Spemann organizer transplantation phenomenon in Xenopus embryos. Developmental Cell. 4: 219-30. PMID 12586065 DOI: 10.1016/S1534-5807(02)00404-5 |
0.702 |
|
| 2002 |
Abreu JG, Ketpura NI, Reversade B, De Robertis EM. Connective-tissue growth factor (CTGF) modulates cell signalling by BMP and TGF-beta. Nature Cell Biology. 4: 599-604. PMID 12134160 DOI: 10.1038/Ncb826 |
0.683 |
|
| 2000 |
Zakin L, Reversade B, Virlon B, Rusniok C, Glaser P, Elalouf J, Brûlet P. Gene expression profiles in normal and Otx2−/− early gastrulating mouse embryos Proceedings of the National Academy of Sciences of the United States of America. 97: 14388-14393. PMID 11114168 DOI: 10.1073/Pnas.011513398 |
0.308 |
|
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