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Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndromeDOWDELL, Kennichi C; NIEMELA, Julie E; FLEISHER, Thomas A et al.Blood. 2010, Vol 115, Num 25, pp 5164-5169, issn 0006-4971, 6 p.Article

Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiencyCHINEN, Javier; DAVIS, Joie; WHITING-THEOBALD, Narda L et al.Blood. 2007, Vol 110, Num 1, pp 67-73, issn 0006-4971, 7 p.Article

Cutaneous Manifestations of DOCK8 Deficiency SyndromeCHU, Emily Y; FREEMAN, Alexandra F; JING, Huie et al.Archives of dermatology (1960). 2012, Vol 148, Num 1, pp 79-84, issn 0003-987X, 6 p.Article

The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flowGOKER-ALPAN, Ozlem; MASDEU, Joseph C; DAVIS, Joie et al.Brain. 2012, Vol 135, pp 2440-2448, issn 0006-8950, 9 p., 8Article

The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase MutationsGOKER-ALPAN, Ozlem; LOPEZ, Grisel; VITHAYATHIL, Joseph et al.Archives of neurology (Chicago). 2008, Vol 65, Num 10, pp 1353-1357, issn 0003-9942, 5 p.Article

Topographical and Temporal Diversity of the Human Skin MicrobiomeGRICE, Elizabeth A; KONG, Heidi H; TURNER, Maria L et al.Science (Washington, D.C.). 2009, Vol 324, Num 5931, pp 1190-1192, issn 0036-8075, 3 p.Article

Mutant deoxynucleotide carrier is associated with congenital microcephalyROSENBERG, Marjorie J; AGARWALA, Richa; PETTY, Elizabeth M et al.Nature genetics. 2002, Vol 32, Num 1, pp 175-179, issn 1061-4036, 5 p.Article

The hip in Stickler syndromeROSE, Peter S; AHN, Nicholas U; LEVY, Howard P et al.Journal of pediatric orthopedics. 2001, Vol 21, Num 5, pp 657-663, issn 0271-6798Article

Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasisNIEMELA, Julie E; LIANGHAO LU; KONETI RAO, V et al.Blood. 2011, Vol 117, Num 10, pp 2883-2886, issn 0006-4971, 4 p.Article

Stickler syndrome : Clinical characteristics and diagnostic criteriaROSE, Peter S; LEVY, Howard P; LIBERFARB, Ruth M et al.American journal of medical genetics. 2005, Vol 138A, Num 3, pp 199-207, issn 0148-7299, 9 p.Article

Thoracolumbar spinal abnormalities in Stickler syndromeROSE, Peter S; AHN, Nicholas U; LEVY, Howard P et al.Spine (Philadelphia, PA. 1976). 2001, Vol 26, Num 4, pp 403-409, issn 0362-2436Article

Genetic testing and screening in pediatric populationsDAVIS, Joie; KRASNEWICH, Donna; PUCK, Jennifer M et al.The Nursing clinics of North-America. 2000, Vol 35, Num 3, issn 0029-6465, vi, 643-651 [10 p.]Article

Paucity of genotype—phenotype correlations in STAT3 mutation positive Hyper IgE Syndrome (HIES)HEIMALL, Jennifer; DAVIS, Joie; SHAW, Pamela A et al.Clinical immunology (Orlando, Fla. Print). 2011, Vol 139, Num 1, pp 75-84, issn 1521-6616, 10 p.Article

Combined Immunodeficiency Associated with DOCK8 MutationsQIAN ZHANG; DAVIS, Jeremiah C; HOLLAND, Steven M et al.The New England journal of medicine. 2009, Vol 361, Num 21, pp 2046-2055, issn 0028-4793, 10 p.Article

Causes of death in hyper-IgE syndromeFREEMAN, Alexandra F; KLEINER, David E; NADIMINTI, Hari et al.Journal of allergy and clinical immunology. 2007, Vol 119, Num 5, pp 1234-1240, issn 0091-6749, 7 p.Article

STAT3 mutations in the hyper-IgE syndromeHOLLAND, Steven M; DELEO, Frank R; ANDERSON, Victoria L et al.The New England journal of medicine. 2007, Vol 357, Num 16, pp 1608-1619, issn 0028-4793, 12 p.Article

Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairmentHAY, Beverly N; MARTIN, Julie E; KARP, Barbara et al.American journal of medical genetics. 2004, Vol 125A, Num 2, pp 145-151, issn 0148-7299, 7 p.Article

Intermediate phenotypes in patients with autosomal dominant hyper-lgE syndrome caused by somatic mosaicismHSU, Amy P; SOWERWINE, Kathryn J; MILNER, Joshua D et al.Journal of allergy and clinical immunology. 2013, Vol 131, Num 6, pp 1586-1593, issn 0091-6749, 8 p.Article

Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndromeCAMINHA, Iusta; FLEISHER, Thomas A; KONETI RAO, V et al.Journal of allergy and clinical immunology. 2010, Vol 125, Num 4, pp 946-949, issn 0091-6749, 4 p.Article

Impaired T_H17 cell differentiation in subjects with autosomal dominant hyper-lgE syndromeMILNER, Joshua D; BRENCHLEY, Jason M; DAVIS, Joie et al.Nature (London). 2008, Vol 452, Num 7188, pp 773-776, issn 0028-0836, 4 p.Article

Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndromeSHIGUI ZHU; HSU, Amy P; SAULSBURY, Frank T et al.Human genetics. 2006, Vol 119, Num 3, pp 284-294, issn 0340-6717, 11 p.Article

HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia)VACEK, Maria M; SCHÄFFER, Alejandro A; DAVIS, Joie et al.Clinical immunology (Orlando, Fla. Print). 2006, Vol 118, Num 1, pp 59-65, issn 1521-6616, 7 p.Article

Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndromeKONETI RAO, V; DUGAN, Faith; DALE, Janet K et al.British journal of haematology. 2005, Vol 129, Num 4, pp 534-538, issn 0007-1048, 5 p.Article

Autosomal recessive hyperimmunoglobulin E syndrome: A distinct disease entityRENNER, Eleonore D; PUCK, Jennifer M; HOLLAND, Steven M et al.The Journal of pediatrics. 2004, Vol 144, Num 1, pp 93-99, issn 0022-3476, 7 p.Article