| Year |
Citation |
Score |
| 2024 |
Chung C, Yang X, Hevner RF, Kennedy K, Vong KI, Liu Y, Patel A, Nedunuri R, Barton ST, Noel G, Barrows C, Stanley V, Mittal S, Breuss MW, Schlachetzki JCM, et al. Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain. Nature. PMID 38600385 DOI: 10.1038/s41586-024-07292-5 |
0.352 |
|
| 2023 |
Chung C, Yang X, Hevner RF, Kennedy K, Vong KI, Liu Y, Patel A, Nedunuri R, Barton ST, Barrows C, Stanley V, Mittal S, Breuss MW, Schlachetzki JCM, Gleeson JG. Cell-type-resolved somatic mosaicism reveals clonal dynamics of the human forebrain. Biorxiv : the Preprint Server For Biology. PMID 37961480 DOI: 10.1101/2023.10.24.563814 |
0.753 |
|
| 2023 |
Graham JH, Schlachetzki JCM, Yang X, Breuss MW. Genomic Mosaicism of the Brain: Origin, Impact, and Utility. Neuroscience Bulletin. PMID 37898991 DOI: 10.1007/s12264-023-01124-8 |
0.706 |
|
| 2023 |
Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, et al. Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development. Nature Genetics. PMID 36635388 DOI: 10.1038/s41588-022-01276-9 |
0.785 |
|
| 2023 |
Yang X, Xu X, Breuss MW, Antaki D, Ball LL, Chung C, Shen J, Li C, George RD, Wang Y, Bae T, Cheng Y, Abyzov A, Wei L, Alexandrov LB, et al. Control-independent mosaic single nucleotide variant detection with DeepMosaic. Nature Biotechnology. PMID 36593400 DOI: 10.1038/s41587-022-01559-w |
0.744 |
|
| 2022 |
Bae T, Fasching L, Wang Y, Shin JH, Suvakov M, Jang Y, Norton S, Dias C, Mariani J, Jourdon A, Wu F, Panda A, Pattni R, Chahine Y, Yeh R, ... ... Breuss M, et al. Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability. Science (New York, N.Y.). 377: 511-517. PMID 35901164 DOI: 10.1126/science.abm6222 |
0.809 |
|
| 2022 |
Breuss MW, Yang X, Stanley V, McEvoy-Venneri J, Xu X, Morales AJ, Gleeson JG. Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission. Elife. 11. PMID 35787314 DOI: 10.7554/eLife.78459 |
0.768 |
|
| 2022 |
Breuss MW, Yang X, Schlachetzki JCM, Antaki D, Lana AJ, Xu X, Chung C, Chai G, Stanley V, Song Q, Newmeyer TF, Nguyen A, O'Brien S, Hoeksema MA, Cao B, et al. Somatic mosaicism reveals clonal distributions of neocortical development. Nature. PMID 35444276 DOI: 10.1038/s41586-022-04602-7 |
0.776 |
|
| 2021 |
Yang X, Breuss MW, Xu X, Antaki D, James KN, Stanley V, Ball LL, George RD, Wirth SA, Cao B, Nguyen A, McEvoy-Venneri J, Chai G, Nahas S, Van Der Kraan L, et al. Developmental and temporal characteristics of clonal sperm mosaicism. Cell. PMID 34388390 DOI: 10.1016/j.cell.2021.07.024 |
0.795 |
|
| 2021 |
Breuss MW, Yang X, Gleeson JG. Sperm mosaicism: implications for genomic diversity and disease. Trends in Genetics : Tig. PMID 34158173 DOI: 10.1016/j.tig.2021.05.007 |
0.763 |
|
| 2021 |
Ghosh SG, Breuss MW, Schlachetzki Z, Chai G, Ross D, Stanley V, Sonmez FM, Topaloglu H, Zaki MS, Hosny H, Gad S, Gleeson JG. Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia. European Journal of Human Genetics : Ejhg. PMID 33824466 DOI: 10.1038/s41431-021-00832-x |
0.726 |
|
| 2020 |
Chai G, Webb A, Li C, Antaki D, Lee S, Breuss MW, Lang N, Stanley V, Anzenberg P, Yang X, Marshall T, Gaffney P, Wierenga KJ, Chung BH, Tsang MH, et al. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron. PMID 33220177 DOI: 10.1016/j.neuron.2020.10.035 |
0.791 |
|
| 2020 |
Ghosh SG, Scala M, Beetz C, Helman G, Stanley V, Yang X, Breuss MW, Mazaheri N, Selim L, Hadipour F, Pais L, Stutterd CA, Karageorgou V, Begtrup A, Crunk A, et al. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. European Journal of Human Genetics : Ejhg. PMID 32901138 DOI: 10.1038/S41431-020-00717-5 |
0.734 |
|
| 2020 |
Garcia CAB, Carvalho SCS, Yang X, Ball LL, George RD, James KN, Stanley V, Breuss MW, Thomé U, Santos MV, Saggioro FP, Neder Serafini L, Silva WA, Gleeson JG, Machado HR. mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly. Epilepsia Open. 5: 97-106. PMID 32140648 DOI: 10.1002/epi4.12377 |
0.722 |
|
| 2019 |
Breuss MW, Antaki D, George RD, Kleiber M, James KN, Ball LL, Hong O, Mitra I, Yang X, Wirth SA, Gu J, Garcia CAB, Gujral M, Brandler WM, Musaev D, et al. Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Nature Medicine. PMID 31873310 DOI: 10.1038/S41591-019-0711-0 |
0.745 |
|
| 2019 |
Ghosh SG, Wang L, Breuss MW, Green JD, Stanley V, Yang X, Ross D, Traynor BJ, Alhashem AM, Azam M, Selim L, Bastaki L, Elbastawisy HI, Temtamy S, Zaki M, et al. Recurrent homozygous damaging mutation in , encoding a protein disulfide isomerase, in four families with microlissencephaly. Journal of Medical Genetics. PMID 31586943 DOI: 10.1136/Jmedgenet-2019-106409 |
0.734 |
|
| 2018 |
Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, et al. Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. PMID 30449657 DOI: 10.1016/J.Neuron.2018.10.044 |
0.704 |
|
| 2018 |
Breuss MW, Nguyen A, Song Q, Nguyen T, Stanley V, James KN, Musaev D, Chai G, Wirth SA, Anzenberg P, George RD, Johansen A, Ali S, Zia-Ur-Rehman M, Sultan T, et al. Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. American Journal of Human Genetics. PMID 30032983 DOI: 10.1016/J.Ajhg.2018.06.011 |
0.757 |
|
| 2018 |
Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, et al. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nature Genetics. PMID 30013181 DOI: 10.1038/S41588-018-0166-0 |
0.777 |
|
| 2018 |
Gstrein T, Edwards A, Přistoupilová A, Leca I, Breuss M, Pilat-Carotta S, Hansen AH, Tripathy R, Traunbauer AK, Hochstoeger T, Rosoklija G, Repic M, Landler L, Stránecký V, Dürnberger G, et al. Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans. Nature Neuroscience. PMID 29875394 DOI: 10.1038/S41593-018-0170-9 |
0.651 |
|
| 2018 |
Gstrein T, Edwards A, Přistoupilová A, Leca I, Breuss M, Pilat-Carotta S, Hansen AH, Tripathy R, Traunbauer AK, Hochstoeger T, Rosoklija G, Repic M, Landler L, Stránecký V, Dürnberger G, et al. Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans. Nature Neuroscience. PMID 29311744 DOI: 10.1038/S41593-017-0053-5 |
0.73 |
|
| 2017 |
Breuss MW, Leca I, Gstrein T, Hansen AH, Keays DA. Tubulins and brain development - The origins of functional specification. Molecular and Cellular Neurosciences. 84: 58-67. PMID 28347630 DOI: 10.1016/j.mcn.2017.03.002 |
0.649 |
|
| 2017 |
Breuss MW, Hansen AH, Landler L, Keays DA. Brain-specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition. Behavioural Brain Research. PMID 28130172 DOI: 10.1016/j.bbr.2017.01.029 |
0.7 |
|
| 2016 |
Breuss MW, Nguyen T, Srivatsan A, Leca I, Tian G, Fritz T, Hansen AH, Musaev D, McEvoy-Venneri J, James KN, Rosti RO, Scott E, Tan U, Kolodner RD, Cowan NJ, et al. Uner Tan Syndrome Caused by a Homozygous TUBB2B Mutation Affecting Microtubule Stability. Human Molecular Genetics. PMID 28013290 DOI: 10.1093/Hmg/Ddw383 |
0.752 |
|
| 2016 |
Breuss MW, Gleeson JG. When size matters: CHD8 in autism. Nature Neuroscience. 19: 1430-1432. PMID 27786184 DOI: 10.1038/Nn.4431 |
0.48 |
|
| 2016 |
Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG. Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. American Journal of Human Genetics. 99: 785. PMID 27588454 DOI: 10.1016/j.ajhg.2016.08.009 |
0.564 |
|
| 2016 |
Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG. Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. American Journal of Human Genetics. 99: 228-35. PMID 27392077 DOI: 10.1016/J.Ajhg.2016.05.023 |
0.59 |
|
| 2016 |
Breuss M, Fritz T, Gstrein T, Chan K, Ushakova L, Yu N, Vonberg FW, Werner B, Elling U, Keays DA. Mutations in the murine homologue of TUBB5 cause microcephaly by perturbing cell cycle progression and inducing p53 associated apoptosis. Development (Cambridge, England). PMID 26903504 DOI: 10.1242/dev.131516 |
0.712 |
|
| 2015 |
Isrie M, Breuss M, Tian G, Hansen AH, Cristofoli F, Morandell J, Kupchinsky ZA, Sifrim A, Rodriguez-Rodriguez CM, Dapena EP, Doonanco K, Leonard N, Tinsa F, Moortgat S, Ulucan H, et al. Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. American Journal of Human Genetics. 97: 790-800. PMID 26637975 DOI: 10.1016/J.Ajhg.2015.10.014 |
0.707 |
|
| 2015 |
Breuss M, Morandell J, Nimpf S, Gstrein T, Lauwers M, Hochstoeger T, Braun A, Chan K, Sánchez Guajardo ER, Zhang L, Suplata M, Heinze KG, Elsayad K, Keays DA. The expression of Tubb2b undergoes a developmental transition in murine cortical neurons. The Journal of Comparative Neurology. PMID 26105993 DOI: 10.1002/cne.23836 |
0.673 |
|
| 2014 |
Ngo L, Haas M, Qu Z, Li SS, Zenker J, Teng KS, Gunnersen JM, Breuss M, Habgood M, Keays DA, Heng JI. TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons. Human Molecular Genetics. 23: 5147-58. PMID 24833723 DOI: 10.1093/Hmg/Ddu238 |
0.68 |
|
| 2014 |
Breuss M, Keays DA. Microtubules and neurodevelopmental disease: the movers and the makers. Advances in Experimental Medicine and Biology. 800: 75-96. PMID 24243101 DOI: 10.1007/978-94-007-7687-6_5 |
0.661 |
|
| 2013 |
Treiber CD, Salzer M, Breuss M, Ushakova L, Lauwers M, Edelman N, Keays DA. High resolution anatomical mapping confirms the absence of a magnetic sense system in the rostral upper beak of pigeons. Communicative & Integrative Biology. 6: e24859. PMID 23940826 DOI: 10.4161/cib.24859 |
0.578 |
|
| 2012 |
Breuss M, Heng JI, Poirier K, Tian G, Jaglin XH, Qu Z, Braun A, Gstrein T, Ngo L, Haas M, Bahi-Buisson N, Moutard ML, Passemard S, Verloes A, Gressens P, et al. Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Reports. 2: 1554-62. PMID 23246003 DOI: 10.1016/J.Celrep.2012.11.017 |
0.746 |
|
| 2012 |
Treiber CD, Salzer MC, Riegler J, Edelman N, Sugar C, Breuss M, Pichler P, Cadiou H, Saunders M, Lythgoe M, Shaw J, Keays DA. Clusters of iron-rich cells in the upper beak of pigeons are macrophages not magnetosensitive neurons. Nature. 484: 367-70. PMID 22495303 DOI: 10.1038/Nature11046 |
0.596 |
|
| 2011 |
Edwards A, Treiber CD, Breuss M, Pidsley R, Huang GJ, Cleak J, Oliver PL, Flint J, Keays DA. Cytoarchitectural disruption of the superior colliculus and an enlarged acoustic startle response in the Tuba1a mutant mouse. Neuroscience. 195: 191-200. PMID 21875651 DOI: 10.1016/J.Neuroscience.2011.08.035 |
0.673 |
|
| 2010 |
Braun A, Breuss M, Salzer MC, Flint J, Cowan NJ, Keays DA. Tuba8 is expressed at low levels in the developing mouse and human brain. American Journal of Human Genetics. 86: 819-22; author reply. PMID 20466094 DOI: 10.1016/J.Ajhg.2010.03.019 |
0.693 |
|
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