Medical College of Wisconsin
CTSICores SearchResearch InformaticsREDCap

Kelly Jones MD

Assistant Professor

Institution: Medical College of Wisconsin
Department: Pediatrics
Division: Genetics

View Curriculum Vitae

Publications (19)

  • Health Supervision for Children and Adolescents With Marfan Syndrome. (Tinkle BT, Lacro RV, Burke LW, COUNCIL ON GENETICS) Pediatrics 2023 Apr 01;151(4) PMID: 36938616 SCOPUS ID: 2-s2.0-85151574677 03/21/2023       2 Citations
  • Congenital Hypothyroidism: Screening and Management. (Rose SR, Wassner AJ, Wintergerst KA, Yayah-Jones NH, Hopkin RJ, Chuang J, Smith JR, Abell K, LaFranchi SH, SECTION ON ENDOCRINOLOGY EXECUTIVE COMMITTEE, COUNCIL ON GENETICS EXECUTIVE COMMITTEE) Pediatrics 2023 Jan 01;151(1) PMID: 36827523 SCOPUS ID: 2-s2.0-85148964523 02/25/2023       6 Citations
  • Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. (den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistienė L, Coon H, DDD Study, Délot EC, Démurger F, Denommé-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kučinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preikšaitienė E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM) Am J Hum Genet 2021 Feb 04;108(2):346-356 PMID: 33513338 PMCID: PMC7895900 SCOPUS ID: 2-s2.0-85100239938 01/30/2021       23 Citations
  • 5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation. (Quintero-Rivera F, Eno CC, Sutanto C, Jones KL, Nowaczyk MJM, Wong D, Earl D, Mirzaa G, Beck A, Martinez-Agosto JA) Hum Genet 2021 Apr;140(4):681-690 PMID: 33389145 PMCID: PMC8733961 SCOPUS ID: 2-s2.0-85098529732 01/04/2021       5 Citations
  • Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I. (Peck DS, Lacey JM, White AL, Pino G, Studinski AL, Fisher R, Ahmad A, Spencer L, Viall S, Shallow N, Siemon A, Hamm JA, Murray BK, Jones KL, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P, Tortorelli S) Int J Neonatal Screen 2020 Mar;6(1):10 PMID: 33073008 PMCID: PMC7422968 SCOPUS ID: 2-s2.0-85081668654 10/20/2020       26 Citations
  • Rubinstein-Taybi syndrome in diverse populations. (Tekendo-Ngongang C, Owosela B, Fleischer N, Addissie YA, Malonga B, Badoe E, Gupta N, Moresco A, Huckstadt V, Ashaat EA, Hussen DF, Luk HM, Lo IFM, Hon-Yin Chung B, Fung JLF, Moretti-Ferreira D, Batista LC, Lotz-Esquivel S, Saborio-Rocafort M, Badilla-Porras R, Penon Portmann M, Jones KL, Abdul-Rahman OA, Uwineza A, Prijoles EJ, Ifeorah IK, Llamos Paneque A, Sirisena ND, Dowsett L, Lee S, Cappuccio G, Kitchin CS, Diaz-Kuan A, Thong MK, Obregon MG, Mutesa L, Dissanayake VHW, El Ruby MO, Brunetti-Pierri N, Ekure EN, Stevenson RE, Muenke M, Kruszka P) Am J Med Genet A 2020 Dec;182(12):2939-2950 PMID: 32985117 SCOPUS ID: 2-s2.0-85091492610 09/29/2020       15 Citations
  • Turner syndrome in diverse populations. (Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong MK, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, de Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M) Am J Med Genet A 2020 Feb;182(2):303-313 PMID: 31854143 PMCID: PMC8141514 SCOPUS ID: 2-s2.0-85076760715 12/20/2019       17 Citations
  • Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance. (Jones KL, McNamara EA, Longoni M, Miller DE, Rohanizadegan M, Newman LA, Hayes F, Levitsky LL, Herrington BL, Lin AE) Am J Med Genet A 2018 Nov;176(11):2435-2445 PMID: 30079495 PMCID: PMC6289717 SCOPUS ID: 2-s2.0-85052611801 08/07/2018       17 Citations
  • Williams-Beuren syndrome in diverse populations. (Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M) Am J Med Genet A 2018 May;176(5):1128-1136 PMID: 29681090 PMCID: PMC6007881 SCOPUS ID: 2-s2.0-85045847358 04/24/2018       53 Citations
  • Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. (Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL, Undiagnosed Diseases Network Members, Goldstein DB, Shashi V) Genet Med 2018 Apr;20(4):464-469 PMID: 28914269 PMCID: PMC5851806 SCOPUS ID: 2-s2.0-85045219803 09/16/2017       33 Citations
  • Noonan syndrome in diverse populations. (Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M) Am J Med Genet A 2017 Sep;173(9):2323-2334 PMID: 28748642 PMCID: PMC5710841 SCOPUS ID: 2-s2.0-85026314237 07/28/2017       66 Citations
  • GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. (Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR) J Med Genet 2017 Jul;54(7):460-470 PMID: 28377535 PMCID: PMC5656050 SCOPUS ID: 2-s2.0-85021154784 04/06/2017       167 Citations
  • 22q11.2 deletion syndrome in diverse populations. (Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BH, Mok GT, Mak CC, Muthukumarasamy P, Thong MK, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan JM, Patil SJ, Jones KL, Kaplan JD, Abdul-Rahman OA, Uwineza A, Mutesa L, Moresco A, Obregon MG, Richieri-Costa A, Gil-da-Silva-Lopes VL, Adeyemo AA, Summar M, Zackai EH, McDonald-McGinn DM, Linguraru MG, Muenke M) Am J Med Genet A 2017 Apr;173(4):879-888 PMID: 28328118 PMCID: PMC5363275 SCOPUS ID: 2-s2.0-85015933718 03/23/2017       97 Citations
  • Down syndrome in diverse populations. (Kruszka P, Porras AR, Sobering AK, Ikolo FA, La Qua S, Shotelersuk V, Chung BH, Mok GT, Uwineza A, Mutesa L, Moresco A, Obregon MG, Sokunbi OJ, Kalu N, Joseph DA, Ikebudu D, Ugwu CE, Okoromah CA, Addissie YA, Pardo KL, Brough JJ, Lee NC, Girisha KM, Patil SJ, Ng IS, Min BC, Jamuar SS, Tibrewal S, Wallang B, Ganesh S, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Richieri-Costa A, Muthukumarasamy P, Thong MK, Jones KL, Abdul-Rahman OA, Ekure EN, Adeyemo AA, Summar M, Linguraru MG, Muenke M) Am J Med Genet A 2017 Jan;173(1):42-53 PMID: 27991738 SCOPUS ID: 2-s2.0-85006289191 12/20/2016       66 Citations
  • A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. (Jones KL, Schwarze U, Adam MP, Byers PH, Mefford HC) Am J Med Genet A 2015 Nov;167A(11):2691-6 PMID: 26086840 PMCID: PMC4654953 SCOPUS ID: 2-s2.0-84947029770 06/19/2015       43 Citations
  • Evaluation and diagnosis of the dysmorphic infant. (Jones KL, Adam MP) Clin Perinatol 2015 Jun;42(2):243-61, vii-viii PMID: 26042903 PMCID: PMC4707958 SCOPUS ID: 2-s2.0-84931063316 06/05/2015       18 Citations
  • Actionable exomic incidental findings in 6503 participants: challenges of variant classification. (Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP) Genome Res 2015 Mar;25(3):305-15 PMID: 25637381 PMCID: PMC4352885 SCOPUS ID: 2-s2.0-84923872701 02/01/2015       273 Citations
  • Actionable, pathogenic incidental findings in 1,000 participants' exomes. (Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS, National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project, Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, Byers P, Hisama FM, Nickerson DA, Jarvik GP) Am J Hum Genet 2013 Oct 03;93(4):631-40 PMID: 24055113 PMCID: PMC3791261 SCOPUS ID: 2-s2.0-84885295208 09/24/2013       307 Citations
  • A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease. (Jones KL, Pivnick EK, Hines-Dowell S, Weese-Mayer DE, Berry-Kravis EM, Santiago T, Nnorom C, Pourcyrous M) Pediatrics 2012 Nov;130(5):e1382-4 PMID: 23045564 SCOPUS ID: 2-s2.0-84868618675 10/10/2012       7 Citations
    • Last update: 08/04/2023