Kathleen Sullivan to Mutation
This is a "connection" page, showing publications Kathleen Sullivan has written about Mutation.
Connection Strength
1.115
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Brodszki N, Frazer-Abel A, Grumach AS, Kirschfink M, Litzman J, Perez E, Sepp?nen MRJ, Sullivan KE, Jolles S. European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management. J Clin Immunol. 2020 05; 40(4):576-591.
Score: 0.133
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Fernandez IZ, Baxter RM, Garcia-Perez JE, Vendrame E, Ranganath T, Kong DS, Lundquist K, Nguyen T, Ogolla S, Black J, Galambos C, Gumbart JC, Dawany N, Kelsen JR, de Zoeten EF, Quinones R, Eissa H, Verneris MR, Sullivan KE, Rochford R, Blish CA, Kedl RM, Dutmer CM, Hsieh EWY. A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation. J Exp Med. 2019 06 03; 216(6):1255-1267.
Score: 0.125
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Kelsen JR, Dawany N, Moran CJ, Petersen BS, Sarmady M, Sasson A, Pauly-Hubbard H, Martinez A, Maurer K, Soong J, Rappaport E, Franke A, Keller A, Winter HS, Mamula P, Piccoli D, Artis D, Sonnenberg GF, Daly M, Sullivan KE, Baldassano RN, Devoto M. Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease. Gastroenterology. 2015 Nov; 149(6):1415-24.
Score: 0.097
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McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, Mlynarski E, Lynch DR, Yan AC, Bilaniuk LT, Sullivan KE, Warren ST, Emanuel BS, Vermeesch JR, Zackai EH, Jerome-Majewska LA. Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. J Med Genet. 2013 Feb; 50(2):80-90.
Score: 0.081
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Saltzman RW, Monaco-Shawver L, Zhang K, Sullivan KE, Filipovich AH, Orange JS. Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity. J Allergy Clin Immunol. 2012 Jun; 129(6):1666-8.
Score: 0.076
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Yong PL, Russo P, Sullivan KE. Use of sirolimus in IPEX and IPEX-like children. J Clin Immunol. 2008 Sep; 28(5):581-7.
Score: 0.059
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Hernandez-Trujillo V, Zhou C, Scalchunes C, Ochs HD, Sullivan KE, Cunningham-Rundles C, Fuleihan RL, Bonilla FA, Petrovic A, Rawlings DJ, de la Morena MT. A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA. J Clin Immunol. 2023 08; 43(6):1468-1477.
Score: 0.042
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Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hern?ndez A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Pruhov? ?, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gon?alo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, H?m?l?inen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A, Sepp?nen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. J Allergy Clin Immunol. 2023 04; 151(4):1081-1095.
Score: 0.040
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O'Toole D, Groth D, Wright H, Bonilla FA, Fuleihan RL, Cunningham-Rundles C, Sullivan KE, Ochs HD, Marsh R, Feuille E. X-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry. J Clin Immunol. 2022 05; 42(4):827-836.
Score: 0.038
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Le Coz C, Nguyen DN, Su C, Nolan BE, Albrecht AV, Xhani S, Sun D, Demaree B, Pillarisetti P, Khanna C, Wright F, Chen PA, Yoon S, Stiegler AL, Maurer K, Garifallou JP, Rymaszewski A, Kroft SH, Olson TS, Seif AE, Wertheim G, Grant SFA, Vo LT, Puck JM, Sullivan KE, Routes JM, Zakharova V, Shcherbina A, Mukhina A, Rudy NL, Hurst ACE, Atkinson TP, Boggon TJ, Hakonarson H, Abate AR, Hajjar J, Nicholas SK, Lupski JR, Verbsky J, Chinn IK, Gonzalez MV, Wells AD, Marson A, Poon GMK, Romberg N. Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. J Exp Med. 2021 07 05; 218(7).
Score: 0.036
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Patel T, Henrickson SE, Moser EK, Field NS, Maurer K, Dawany N, Conrad M, Bunin N, Freedman JL, Heimall J, Arnold DE, Wang J, Markowitz JE, Payne-Poff SB, Williams KW, Russo PA, Wherry EJ, Devoto M, Oliver P, Sullivan KE, Kelsen JR. Immune Dysregulation in Human ITCH Deficiency Successfully Treated with Hematopoietic Cell Transplantation. J Allergy Clin Immunol Pract. 2021 07; 9(7):2885-2893.e3.
Score: 0.036
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Baxter SK, Walsh T, Casadei S, Eckert MM, Allenspach EJ, Hagin D, Segundo G, Lee MK, Gulsuner S, Shirts BH, Sullivan KE, Keller MD, Torgerson TR, King MC. Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management. J Allergy Clin Immunol. 2022 01; 149(1):327-339.
Score: 0.036
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Deshpande DR, Demirdag YY, Marsh RA, Sullivan KE, Orange JS. Relationship Between Severity of T Cell Lymphopenia and Immune Dysregulation in Patients with DiGeorge Syndrome (22q11.2 Deletions and/or Related TBX1 Mutations): a USIDNET Study. J Clin Immunol. 2021 01; 41(1):29-37.
Score: 0.035
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Abolhassani H, Azizi G, Sharifi L, Yazdani R, Mohsenzadegan M, Delavari S, Sohani M, Shirmast P, Chavoshzadeh Z, Mahdaviani SA, Kalantari A, Tavakol M, Jabbari-Azad F, Ahanchian H, Momen T, Sherkat R, Sadeghi-Shabestari M, Aleyasin S, Esmaeilzadeh H, Al-Herz W, Bousfiha AA, Condino-Neto A, Sepp?nen M, Sullivan KE, Hammarstr?m L, Modell V, Modell F, Quinn J, Orange JS, Aghamohammadi A. Global systematic review of primary immunodeficiency registries. Expert Rev Clin Immunol. 2020 07; 16(7):717-732.
Score: 0.034
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Burroughs LM, Petrovic A, Brazauskas R, Liu X, Griffith LM, Ochs HD, Bleesing JJ, Edwards S, Dvorak CC, Chaudhury S, Prockop SE, Quinones R, Goldman FD, Quigg TC, Chandrakasan S, Smith AR, Parikh S, D?vila Salda?a BJ, Thakar MS, Phelan R, Shenoy S, Forbes LR, Martinez C, Chellapandian D, Shereck E, Miller HK, Kapoor N, Barnum JL, Chong H, Shyr DC, Chen K, Abu-Arja R, Shah AJ, Weinacht KG, Moore TB, Joshi A, DeSantes KB, Gillio AP, Cuvelier GDE, Keller MD, Rozmus J, Torgerson T, Pulsipher MA, Haddad E, Sullivan KE, Logan BR, Kohn DB, Puck JM, Notarangelo LD, Pai SY, Rawlings DJ, Cowan MJ. Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report. Blood. 2020 06 04; 135(23):2094-2105.
Score: 0.034
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Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, Frey-Jakobs S, Weidinger S, Moebus L, Franke A, Sch?ffer AA, Bulashevska A, Fuchs S, Ehl S, Limaye S, Arkwright PD, Briggs TA, Langley C, Bethune C, Whyte AF, Alachkar H, Nejentsev S, DiMaggio T, Nelson CG, Stone KD, Nason M, Brittain EH, Oler AJ, Veltri DP, Leahy TR, Conlon N, Poli MC, Borzutzky A, Cohen JI, Davis J, Lambert MP, Romberg N, Sullivan KE, Paris K, Freeman AF, Lucas L, Chandrakasan S, Savic S, Hambleton S, Patel SY, Jordan MB, Theos A, Lebensburger J, Atkinson TP, Torgerson TR, Chinn IK, Milner JD, Grimbacher B, Cook MC, Snow AL. Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease. J Allergy Clin Immunol. 2019 04; 143(4):1482-1495.
Score: 0.030
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Sacco KA, Garabedian E, Sullivan KE, Joshi AY. Renal Disease in Chronic Granulomatous Disease: Data from the USIDNET Registry. J Clin Immunol. 2018 07; 38(5):556-557.
Score: 0.030
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Schwab C, Gabrysch A, Olbrich P, Pati?o V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom DM, Lucena JM, Seidl M, Schmitt-Graeff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, D?ckers G, Niehues T, Fronkova E, Kanderov? V, Platt CD, Chou J, Chatila TA, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Dey?-Martinez A, Hambleton S, Kanegane H, Task?n K, Neth O, Grimbacher B. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. J Allergy Clin Immunol. 2018 12; 142(6):1932-1946.
Score: 0.029
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Dunn K, Pasternak B, Kelsen JR, Sullivan KE, Dawany N, Wright BL. Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae. Ann Allergy Asthma Immunol. 2018 02; 120(2):214-215.
Score: 0.029
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Conrad MA, Dawany N, Sullivan KE, Devoto M, Kelsen JR. Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease. Inflamm Bowel Dis. 2017 12; 23(12):2252-2255.
Score: 0.028
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Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J Clin Immunol. 2015 Nov; 35(8):696-726.
Score: 0.025
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Tran LT, Gentil BJ, Sullivan KE, Durham HD. The voltage-gated calcium channel blocker lomerizine is neuroprotective in motor neurons expressing mutant SOD1, but not TDP-43. J Neurochem. 2014 Aug; 130(3):455-66.
Score: 0.022
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Routes J, Abinun M, Al-Herz W, Bustamante J, Condino-Neto A, De La Morena MT, Etzioni A, Gambineri E, Haddad E, Kobrynski L, Le Deist F, Nonoyama S, Oliveira JB, Perez E, Picard C, Rezaei N, Sleasman J, Sullivan KE, Torgerson T. ICON: the early diagnosis of congenital immunodeficiencies. J Clin Immunol. 2014 May; 34(4):398-424.
Score: 0.022