| Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients MR Wallace, DA Marchuk, LB Andersen, R Letcher, HM Odeh, ... Science 249 (4965), 181-186, 1990 | 1848 | 1990 |
| Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1 KA McAllister, KM Grogg, DW Johnson, CJ Gallione, MA Baldwin, ... Nature genetics 8 (4), 345-351, 1994 | 1812 | 1994 |
| Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products. D Marchuk, M Drumm, A Saulino, FS Collins Nucleic acids research 19 (5), 1154, 1991 | 1599 | 1991 |
| Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2 DW Johnson, JN Berg, MA Baldwin, CJ Gallione, I Marondel, SJ Yoon, ... Nature genetics 13 (2), 189-195, 1996 | 1314 | 1996 |
| Hereditary hemorrhagic telangiectasia AE Guttmacher, DA Marchuk, RI White Jr New England Journal of Medicine 333 (14), 918-924, 1995 | 1255 | 1995 |
| Sturge–Weber syndrome and port-wine stains caused by somatic mutation in GNAQ MD Shirley, H Tang, CJ Gallione, JD Baugher, LP Frelin, B Cohen, ... New England Journal of Medicine 368 (21), 1971-1979, 2013 | 1042 | 2013 |
| The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins R Ballester, D Marchuk, M Boguski, A Saulino, R Letcher, M Wigler, ... Cell 63 (4), 851-859, 1990 | 1015 | 1990 |
| Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2 M Vikkula, LM Boon, KLC Iii, JT Calvert, AJ Diamonti, B Goumnerov, ... Cell 87 (7), 1181-1190, 1996 | 938 | 1996 |
| A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4) CJ Gallione, GM Repetto, E Legius, AK Rustgi, SL Schelley, S Tejpar, ... The Lancet 363 (9412), 852-859, 2004 | 835 | 2004 |
| A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10) E Reid, M Kloos, A Ashley-Koch, L Hughes, S Bevan, IK Svenson, ... The American Journal of Human Genetics 71 (5), 1189-1194, 2002 | 635 | 2002 |
| Endoglin, an ancillary TGFβ receptor, is required for extraembryonic angiogenesis and plays a key role in heart development HM Arthur, J Ure, AJH Smith, G Renforth, DI Wilson, E Torsney, ... Developmental biology 217 (1), 42-53, 2000 | 615 | 2000 |
| cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product DA Marchuk, AM Saulino, R Tavakkol, M Swaroop, MR Wallace, ... Genomics 11 (4), 931-940, 1991 | 503 | 1991 |
| Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis E Legius, DA Marchuk, FS Collins, TW Glover Nature genetics 3 (2), 122-126, 1993 | 472 | 1993 |
| Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1) T Sahoo, EW Johnson, JW Thomas, PM Kuehl, TL Jones, CG Dokken, ... Human molecular genetics 8 (12), 2325-2333, 1999 | 409 | 1999 |
| The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases KJ Whitehead, AC Chan, S Navankasattusas, W Koh, NR London, J Ling, ... Nature medicine 15 (2), 177-184, 2009 | 395 | 2009 |
| Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations CL Liquori, MJ Berg, AM Siegel, E Huang, JS Zawistowski, D Verlaan, ... The American Journal of Human Genetics 73 (6), 1459-1464, 2003 | 368 | 2003 |
| Serotonin-related gene polymorphisms and central nervous system serotonin function RB Williams, DA Marchuk, KM Gadde, JC Barefoot, K Grichnik, MJ Helms, ... Neuropsychopharmacology 28 (3), 533-541, 2003 | 319 | 2003 |
| Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis AL Akers, E Johnson, GK Steinberg, JM Zabramski, DA Marchuk Human molecular genetics 18 (5), 919-930, 2009 | 287 | 2009 |
| The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2 JN Berg, CJ Gallione, TT Stenzel, DW Johnson, WP Allen, CE Schwartz, ... The American Journal of Human Genetics 61 (1), 60-67, 1997 | 287 | 1997 |
| CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis JS Zawistowski, L Stalheim, MT Uhlik, AN Abell, BB Ancrile, GL Johnson, ... Human molecular genetics 14 (17), 2521-2531, 2005 | 286 | 2005 |
