| 1 | Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes. (Fischer MC, Reis LM, Lenberg J, Friedman J, Seese SE, Muheisen S, Writzl K, Golob B, Peterlin B, Semina EV) HGG Adv 2026 Jan 15;7(1):100539 |
| 1 | Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype. (Stone W, Strege C, Miller W, Geurts AM, Grzybowski M, Riddle M, Lees C, Eide C, Keene DR, Tufa SF, Seelig D, McGrath J, Tolar J) PLoS One 2024;19(5):e0302991 2 Citations |
| 1 | Brainwide Genetic Sparse Cell Labeling to Illuminate the Morphology of Neurons and Glia with Cre-Dependent MORF Mice. (Veldman MB, Park CS, Eyermann CM, Zhang JY, Zuniga-Sanchez E, Hirano AA, Daigle TL, Foster NN, Zhu M, Langfelder P, Lopez IA, Brecha NC, Zipursky SL, Zeng H, Dong HW, Yang XW) Neuron 2020 Oct 14;108(1):111-127.e6 56 Citations |
| 1 | Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan. (Masri A, Shboul M, Khasawneh A, Jadallah R, ALmustafa A, Escande-Beillard N, Hamamy H, Bakri F, Reversade B) Clin Neurol Neurosurg 2020 Feb;189:105636 22 Citations |
| 1 | Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. (Goldstein JH, Tim-Aroon T, Shieh J, Merrill M, Deeb KK, Zhang S, Bass NE, Bedoyan JK) Eur J Med Genet 2015 Oct;58(10):562-8 35 Citations |
| 1 | Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits. (Auer PL, Teumer A, Schick U, O'Shaughnessy A, Lo KS, Chami N, Carlson C, de Denus S, Dubé MP, Haessler J, Jackson RD, Kooperberg C, Perreault LP, Nauck M, Peters U, Rioux JD, Schmidt F, Turcot V, Völker U, Völzke H, Greinacher A, Hsu L, Tardif JC, Diaz GA, Reiner AP, Lettre G) Nat Genet 2014 Jun;46(6):629-34 114 Citations |
| 1 | Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man. (Burrows PE, Gonzalez-Garay ML, Rasmussen JC, Aldrich MB, Guilliod R, Maus EA, Fife CE, Kwon S, Lapinski PE, King PD, Sevick-Muraca EM) Proc Natl Acad Sci U S A 2013 May 21;110(21):8621-6 114 Citations |
| 2 | Creation and characterization of a renin knockout rat. (Moreno C, Hoffman M, Stodola TJ, Didier DN, Lazar J, Geurts AM, North PE, Jacob HJ, Greene AS) Hypertension 2011 Mar;57(3):614-9 58 Citations |
| 1 | Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes. (Reis LM, Tyler RC, Schneider A, Bardakjian T, Semina EV) Mol Vis 2010 Apr 28;16:768-73 23 Citations |
| 1 | Sequence variation and expression of the Gimap gene family in the BB rat. (Rutledge EA, Fuller JM, Van Yserloo B, Moralejo DH, Ettinger RA, Gaur P, Hoehna JL, Peterson MR, Jensen R, Kwitek AE, Lernmark A) Exp Diabetes Res 2009;2009:835650 12 Citations |
| 1 | [Myotubular myopathy. Case report and review of the literature]. (Kovács SK, Korcsik J, Szabó H, Bódi I, Katona M, Bereg E, Endreffy E, Túri S, Hortobágyi T, Sztriha L) Orv Hetil 2007 Sep 16;148(37):1757-62 |
| 1 | The genetic influence of the nonclassical MHC molecule HLA-G on multiple sclerosis. (Kroner A, Grimm A, Johannssen K, Mäurer M, Wiendl H) Hum Immunol 2007 May;68(5):422-5 27 Citations |
| 1 | Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. (Srinivasa RN, Burrows PE) AJNR Am J Neuroradiol 2006 Oct;27(9):1927-9 35 Citations |
| 1 | Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. (Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E) Am J Hum Genet 2006 Oct;79(4):724-30 123 Citations |
| 1 | Anopheles gambiae genome reannotation through synthesis of ab initio and comparative gene prediction algorithms. (Li J, Riehle MM, Zhang Y, Xu J, Oduol F, Gomez SM, Eiglmeier K, Ueberheide BM, Shabanowitz J, Hunt DF, Ribeiro JM, Vernick KD) Genome Biol 2006;7(3):R24 21 Citations |
| 1 | Inactivation of NADPH oxidase organizer 1 results in severe imbalance. (Kiss PJ, Knisz J, Zhang Y, Baltrusaitis J, Sigmund CD, Thalmann R, Smith RJ, Verpy E, Bánfi B) Curr Biol 2006 Jan 24;16(2):208-13 93 Citations |
| 1 | Re-establishment of VWF-dependent Weibel-Palade bodies in VWD endothelial cells. (Haberichter SL, Merricks EP, Fahs SA, Christopherson PA, Nichols TC, Montgomery RR) Blood 2005 Jan 01;105(1):145-52 63 Citations |
| 1 | Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions. (Fu Z, Wang M, Paschke R, Rao KS, Frerman FE, Kim JJ) Biochemistry 2004 Aug 03;43(30):9674-84 84 Citations |
| 1 | A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome. (Brooks BP, Moroi SE, Downs CA, Wiltse S, Othman MI, Semina EV, Richards JE) Ophthalmic Genet 2004 Mar;25(1):57-62 26 Citations |
| 1 | Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. (Goodfellow PJ, Buttin BM, Herzog TJ, Rader JS, Gibb RK, Swisher E, Look K, Walls KC, Fan MY, Mutch DG) Proc Natl Acad Sci U S A 2003 May 13;100(10):5908-13 215 Citations |
| 1 | Genotype-phenotype analysis in multiple endocrine neoplasia type 1. (Kouvaraki MA, Lee JE, Shapiro SE, Gagel RF, Sherman SI, Sellin RV, Cote GJ, Evans DB) Arch Surg 2002 Jun;137(6):641-7 131 Citations |
| 1 | The cysteine knot of platelet glycoprotein Ib beta (GPIb beta) is critical for the interaction of GPIb beta with GPIX. (Kenny D, Morateck PA, Montgomery RR) Blood 2002 Jun 15;99(12):4428-33 18 Citations |
| 1 | The critical interaction of glycoprotein (GP) IBbeta with GPIX-a genetic cause of Bernard-Soulier syndrome. (Kenny D, Morateck PA, Gill JC, Montgomery RR) Blood 1999 May 01;93(9):2968-75 68 Citations |
| 1 | Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. (Reutens AT, Achermann JC, Ito M, Ito M, Gu WX, Habiby RL, Donohoue PA, Pang S, Hindmarsh PC, Jameson JL) J Clin Endocrinol Metab 1999 Feb;84(2):504-11 168 Citations |
| 2 | A frameshift mutation at Gly975 in the transmembrane domain of GPIIb prevents GPIIb-IIIa expression--analysis of two novel mutations in a kindred with type I glanzmann thrombasthenia. (Scott JP 3rd, Scott JP 2nd, Chao YL, Newman PJ, Ward CM) Thromb Haemost 1998 Oct;80(4):546-50 10 Citations |
| 1 | Genes in the development of the pancreas. (Werlin SL, Kumaran AK) J Pediatr Gastroenterol Nutr 1998 Mar;26(3):361-2 |
| 2 | Liddle's syndrome: prospective genetic screening and suppressed aldosterone secretion in an extended kindred. (Findling JW, Raff H, Hansson JH, Lifton RP) J Clin Endocrinol Metab 1997 Apr;82(4):1071-4 75 Citations |
| 1 | Hereditary and acquired defects in signaling through the hormone-receptor-G protein complex. (Raymond JR) Am J Physiol 1994 Feb;266(2 Pt 2):F163-74 29 Citations |
| 1 | Human factor IXLincoln Park: a molecular characterization. (Rao KJ, Lyman G, Hamsbhushanam K, Scott JP, Jagadeeswaran P) Mol Cell Probes 1990 Oct;4(5):335-40 5 Citations |