Kathleen Sullivan to Phenotype
This is a "connection" page, showing publications Kathleen Sullivan has written about Phenotype.
Connection Strength
2.340
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Bedoukian EC, Rentas S, Skraban C, Shao Q, Treat J, Laird DW, Sullivan KE. Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant. Mol Genet Genomic Med. 2021 02; 9(2):e1574.
Score: 0.651
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Crowley TB, Campbell IM, Liebling EJ, Lambert MP, Levitt Katz LE, Heimall J, Bailey A, McGinn DE, McDonald McGinn DM, Sullivan KE. Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases. J Allergy Clin Immunol. 2022 01; 149(1):445-450.
Score: 0.168
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Kelsen JR, Russo P, Sullivan KE. Early-Onset Inflammatory Bowel Disease. Immunol Allergy Clin North Am. 2019 02; 39(1):63-79.
Score: 0.142
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Gutierrez MJ, Sullivan KE, Fuleihan R, Bingham CO. Phenotypic characterization of patients with rheumatologic manifestations of common variable immunodeficiency. Semin Arthritis Rheum. 2018 10; 48(2):318-326.
Score: 0.133
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Bousfiha A, Jeddane L, Picard C, Ailal F, Bobby Gaspar H, Al-Herz W, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Casanova JL, Sullivan KE. The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2018 01; 38(1):129-143.
Score: 0.131
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Costa-Reis P, Sullivan KE. Monogenic lupus: it's all new! Curr Opin Immunol. 2017 Dec; 49:87-95.
Score: 0.130
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Derfalvi B, Maurer K, McDonald McGinn DM, Zackai E, Meng W, Luning Prak ET, Sullivan KE. B cell development in chromosome 22q11.2 deletion syndrome. Clin Immunol. 2016 Feb; 163:1-9.
Score: 0.114
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Sepp?nen M, Koillinen H, Mustjoki S, Tomi M, Sullivan KE. Terminal deletion of 11q with significant late-onset combined immune deficiency. J Clin Immunol. 2014 Jan; 34(1):114-8.
Score: 0.100
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McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 2011 Jan; 90(1):1-18.
Score: 0.081
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Jyonouchi S, McDonald-McGinn DM, Bale S, Zackai EH, Sullivan KE. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. Pediatrics. 2009 May; 123(5):e871-7.
Score: 0.072
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Filipovich A, Conley ME, Nichols KE, Sullivan KE. X-linked lymphoproliferative syndrome: an X-cellent question. Clin Immunol. 2006 Jun; 119(3):241-4.
Score: 0.059
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Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, Rundles CC, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Puel A, Puck J, Sepp?nen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. J Clin Immunol. 2022 Oct; 42(7):1508-1520.
Score: 0.046
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Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Sepp?nen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022 Oct; 42(7):1473-1507.
Score: 0.045
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Rudra S, Shaul E, Conrad M, Patel T, Moore A, Dawany N, Canavan MC, Sullivan KE, Behrens E, Kelsen JR. Ruxolitinib: Targeted Approach for Treatment of Autoinflammatory Very Early Onset Inflammatory Bowel Disease. Clin Gastroenterol Hepatol. 2022 06; 20(6):1408-1410.e2.
Score: 0.042
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Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Sepp?nen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee. J Clin Immunol. 2021 04; 41(3):666-679.
Score: 0.041
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Shin JJ, Catanzaro J, Yonkof JR, Delmonte O, Sacco K, Shin MS, Reddy S, Whittington PJ, Soffer G, Mustillo PJ, Sullivan KE, Notarangelo LD, Abraham RS, Romberg N, Kang I. Infectious Complications Predict Premature CD8+ T-cell Senescence in CD40 Ligand-Deficient Patients. J Clin Immunol. 2021 05; 41(4):795-806.
Score: 0.041
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Pickett G, Motazedi T, Kutac C, Cahill G, Cunnigham-Rundles C, Fuleihan RL, Sullivan KE, Rider NL. Infection Phenotypes Among Patients with Primary Antibody Deficiency Mined from a US Patient Registry. J Clin Immunol. 2021 02; 41(2):374-381.
Score: 0.040
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Kelsen JR, Conrad MA, Dawany N, Patel T, Shraim R, Merz A, Maurer K, Sullivan KE, Devoto M. The Unique Disease Course of Children with Very Early onset-Inflammatory Bowel Disease. Inflamm Bowel Dis. 2020 05 12; 26(6):909-918.
Score: 0.039
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Kelsen JR, Sullivan KE, Rabizadeh S, Singh N, Snapper S, Elkadri A, Grossman AB. North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Position Paper on the Evaluation and Management for Patients With Very Early-onset Inflammatory Bowel Disease. J Pediatr Gastroenterol Nutr. 2020 03; 70(3):389-403.
Score: 0.038
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Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Torgerson TR, Casanova JL, Sullivan KE, Tangye SG. Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. J Clin Immunol. 2020 01; 40(1):66-81.
Score: 0.038
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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: 0.036
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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: 0.035
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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: 0.034
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Sanchez LA, Maggadottir SM, Pantell MS, Lugar P, Rundles CC, Sullivan KE. Two Sides of the Same Coin: Pediatric-Onset and Adult-Onset Common Variable Immune Deficiency. J Clin Immunol. 2017 Aug; 37(6):592-602.
Score: 0.032
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Bousfiha A, Jeddane L, Al-Herz W, Ailal F, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan KE, Tang ML. The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2015 Nov; 35(8):727-38.
Score: 0.028
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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: 0.023