Kristen Wigby

Title(s)Assistant Clinical Professor, Pediatrics
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
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    Dr. Kristen Wigby is an Assistant Professor in the Department of Pediatrics at UC San Diego. She serves as a Clinical Geneticist at Rady Children's Hospital-San Diego. Dr. Wigby is a Clinical Investigator at the Rady Children’s Institute for Genomic Medicine (RCIGM). Her research focuses on the delineation of rare genetic disorders and clinical implementation of genomic sequencing across a variety of pediatric populations including neurodevelopmental disorders and congenital anomalies. She also studies clinical features in females with Trisomy X and was a leader in developing guidelines for the multi-disciplinary care of females with Trisomy X.

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    1. Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome. J Med Genet. 2022 Mar 01. Angelozzi M, Karvande A, Molin AN, Ritter AL, Leonard JMM, Savatt JM, Douglass K, Myers SM, Grippa M, Tolchin D, Zackai E, Donoghue S, Hurst ACE, Descartes M, Smith K, Velasco D, Schmanski A, Crunk A, Tokita MJ, de Lange IM, van Gassen K, Robinson H, Guegan K, Suri M, Patel C, Bournez M, Faivre L, Tran-Mau-Them F, Baker J, Fabie N, Weaver K, Shillington A, Hopkin RJ, Barge-Schaapveld DQCM, Ruivenkamp CA, Bökenkamp R, Vergano S, Seco Moro MN, Díaz de Bustamante A, Misra VK, Kennelly K, Rogers C, Friedman J, Wigby KM, Lenberg J, Graziano C, Ahrens-Nicklas RC, Lefebvre V. PMID: 35232796.
      View in: PubMed   Mentions:
    2. Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5. Front Cell Dev Biol. 2022; 10:783762. Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Martinez-Salas E, Wigby K, Lenberg J, Friedman JR, Kruer MC, Pandey UB. PMID: 35295849; PMCID: PMC8918504.
      View in: PubMed   Mentions:
    3. Activated phosphoinositide 3-kinase δ syndrome associated with nephromegaly, growth hormone deficiency, bronchiectasis: a case report. Allergy Asthma Clin Immunol. 2022 Feb 21; 18(1):15. Craig M, Geng B, Wigby K, Phillips SA, Bakhoum C, Naheedy J, Cernelc-Kohan M. PMID: 35189965; PMCID: PMC8862239.
      View in: PubMed   Mentions:
    4. Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes. Hum Mutat. 2022 03; 43(3):305-315. Yang JH, Friederich MW, Ellsworth KA, Frederick A, Foreman E, Malicki D, Dimmock D, Lenberg J, Prasad C, Yu AC, Anthony Rupar C, Hegele RA, Manickam K, Koboldt DC, Crist E, Choi SS, Farhan SMK, Harvey H, Sattar S, Karp N, Wong T, Haas R, Van Hove JLK, Wigby K. PMID: 35026043; PMCID: PMC8863643.
      View in: PubMed   Mentions:
    5. Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring. Genes (Basel). 2022 01 15; 13(1). Nagy D, Verheyen S, Wigby KM, Borovikov A, Sharkov A, Slegesky V, Larson A, Fagerberg C, Brasch-Andersen C, Kibæk M, Bader I, Hernan R, High FA, Chung WK, Schieving JH, Behunova J, Smogavec M, Laccone F, Witsch-Baumgartner M, Zobel J, Duba HC, Weis D. PMID: 35052493; PMCID: PMC8775410.
      View in: PubMed   Mentions:
    6. Characterization of a patient-derived variant of GPX4 for precision therapy. Nat Chem Biol. 2022 01; 18(1):91-100. Liu H, Forouhar F, Seibt T, Saneto R, Wigby K, Friedman J, Xia X, Shchepinov MS, Ramesh SK, Conrad M, Stockwell BR. PMID: 34931062; PMCID: PMC8712418.
      View in: PubMed   Mentions:
    7. Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities. Orphanet J Rare Dis. 2021 10 23; 16(1):446. Cheff DM, Muotri AR, Stockwell BR, Schmidt EE, Ran Q, Kartha RV, Johnson SC, Mittal P, Arnér ESJ, Wigby KM, Hall MD, Ramesh SK. PMID: 34688299; PMCID: PMC8542321.
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    8. To Be or No B2: A Rare Cause of Stridor and Weakness in a Toddler. Child Neurol Open. 2021 Jan-Dec; 8:2329048X211030723. Frederick AL, Yang JH, Schneider S, Quade A, Guidugli L, Wigby K, Cameron M. PMID: 34395718; PMCID: PMC8361551.
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    9. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care. Am J Hum Genet. 2021 07 01; 108(7):1231-1238. Dimmock D, Caylor S, Waldman B, Benson W, Ashburner C, Carmichael JL, Carroll J, Cham E, Chowdhury S, Cleary J, D'Harlingue A, Doshi A, Ellsworth K, Galarreta CI, Hobbs C, Houtchens K, Hunt J, Joe P, Joseph M, Kaplan RH, Kingsmore SF, Knight J, Kochhar A, Kronick RG, Limon J, Martin M, Rauen KA, Schwarz A, Shankar SP, Spicer R, Rojas MA, Vargas-Shiraishi O, Wigby K, Zadeh N, Farnaes L. PMID: 34089648; PMCID: PMC8322922.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    10. Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study. JAMA Pediatr. 2021 05 01; 175(5):e205906. Maron JL, Kingsmore SF, Wigby K, Chowdhury S, Dimmock D, Poindexter B, Suhrie K, Vockley J, Diacovo T, Gelb BD, Stroustrup A, Powell CM, Trembath A, Gallen M, Mullen TE, Tanpaiboon P, Reed D, Kurfiss A, Davis JM. PMID: 33587123; PMCID: PMC7885094.
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    11. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021 Apr; 23(4):796. Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH, Care4Rare Canada Consortium, Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. PMID: 33686260.
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    12. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021 04; 23(4):653-660. Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH, Care4Rare Canada Consortium, Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. PMID: 33299146.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    13. An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm. Am J Hum Genet. 2020 11 05; 107(5):942-952. Dimmock DP, Clark MM, Gaughran M, Cakici JA, Caylor SA, Clarke C, Feddock M, Chowdhury S, Salz L, Cheung C, Bird LM, Hobbs C, Wigby K, Farnaes L, Bloss CS, Kingsmore SF, RCIGM Investigators. PMID: 33157007; PMCID: PMC7675004.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    14. Adaptive functioning in children and adolescents with Trisomy X: An exploratory analysis. Am J Med Genet C Semin Med Genet. 2020 06; 184(2):456-468. Wigby K, Cordeiro L, Wilson R, Angkustsiri K, Simon TJ, Tartaglia N. PMID: 32548885; PMCID: PMC8363475.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    15. Genetic testing strategies in the newborn. J Perinatol. 2020 07; 40(7):1007-1016. Carroll J, Wigby K, Murray S. PMID: 32472107.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    16. Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review. Clin Dysmorphol. 2019 Oct; 28(4):175-183. Galarreta CI, Wigby KM, Jones MC. PMID: 31162149.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    17. A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants. Am J Hum Genet. 2019 10 03; 105(4):719-733. Kingsmore SF, Cakici JA, Clark MM, Gaughran M, Feddock M, Batalov S, Bainbridge MN, Carroll J, Caylor SA, Clarke C, Ding Y, Ellsworth K, Farnaes L, Hildreth A, Hobbs C, James K, Kint CI, Lenberg J, Nahas S, Prince L, Reyes I, Salz L, Sanford E, Schols P, Sweeney N, Tokita M, Veeraraghavan N, Watkins K, Wigby K, Wong T, Chowdhury S, Wright MS, Dimmock D, RCIGM Investigators. PMID: 31564432; PMCID: PMC6817534.
      View in: PubMed   Mentions: 51     Fields:    Translation:Humans
    18. Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation. Sci Transl Med. 2019 04 24; 11(489). Clark MM, Hildreth A, Batalov S, Ding Y, Chowdhury S, Watkins K, Ellsworth K, Camp B, Kint CI, Yacoubian C, Farnaes L, Bainbridge MN, Beebe C, Braun JJA, Bray M, Carroll J, Cakici JA, Caylor SA, Clarke C, Creed MP, Friedman J, Frith A, Gain R, Gaughran M, George S, Gilmer S, Gleeson J, Gore J, Grunenwald H, Hovey RL, Janes ML, Lin K, McDonagh PD, McBride K, Mulrooney P, Nahas S, Oh D, Oriol A, Puckett L, Rady Z, Reese MG, Ryu J, Salz L, Sanford E, Stewart L, Sweeney N, Tokita M, Van Der Kraan L, White S, Wigby K, Williams B, Wong T, Wright MS, Yamada C, Schols P, Reynders J, Hall K, Dimmock D, Veeraraghavan N, Defay T, Kingsmore SF. PMID: 31019026.
      View in: PubMed   Mentions: 48     Fields:    Translation:Humans
    19. Whole Exome Sequencing Guides Pharmacotherapy for an Adolescent With Autism Spectrum Disorder and Psychosis. J Am Acad Child Adolesc Psychiatry. 2019 03; 58(3):376-377. Wigby K, Nicolas S, Carpinello M, Ricciardi MT, Willis MJ. PMID: 30832905.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    20. Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico. NPJ Genom Med. 2019; 4:5. Scocchia A, Wigby KM, Masser-Frye D, Del Campo M, Galarreta CI, Thorpe E, McEachern J, Robinson K, Gross A, ICSL Interpretation and Reporting Team, Ajay SS, Rajan V, Perry DL, Belmont JW, Bentley DR, Jones MC, Taft RJ. PMID: 30792901; PMCID: PMC6375919.
      View in: PubMed   Mentions: 17  
    21. Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. Nat Commun. 2019 02 12; 10(1):707. Friedman J, Smith DE, Issa MY, Stanley V, Wang R, Mendes MI, Wright MS, Wigby K, Hildreth A, Crawford JR, Koehler AE, Chowdhury S, Nahas S, Zhai L, Xu Z, Lo WS, James KN, Musaev D, Accogli A, Guerrero K, Tran LT, Omar TEI, Ben-Omran T, Dimmock D, Kingsmore SF, Salomons GS, Zaki MS, Bernard G, Gleeson JG. PMID: 30755602; PMCID: PMC6372641.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    22. A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis-lymphedema-telangiectasia syndrome. Am J Med Genet A. 2018 12; 176(12):2824-2828. Wangberg H, Wigby K, Jones MC. PMID: 30549413.
      View in: PubMed   Mentions: 1  Translation:Humans
    23. Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. Am J Hum Genet. 2018 10 04; 103(4):602-611. Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, Jones MC, Masser-Frye D, Scheuerle AE, Perry DL, Taft RJ, Le Deist F, Thompson M, Kinoshita T, Campeau PM. PMID: 30269814; PMCID: PMC6174287.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    24. Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis. Cold Spring Harb Mol Case Stud. 2017 Sep; 3(5). Hildreth A, Wigby K, Chowdhury S, Nahas S, Barea J, Ordonez P, Batalov S, Dimmock D, Kingsmore S, RCIGM Investigators. PMID: 28550066; PMCID: PMC5593156.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    25. Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. Eur J Hum Genet. 2017 08; 25(8):946-951. Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Ghali N, Study DDD, Anderlid BM, Lundin J, Hamosh A, Jones MC, Ghedia S, Muenke M, Kruszka P. PMID: 28513610; PMCID: PMC5567153.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    26. Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn. Am J Med Genet A. 2017 Jun; 173(6):1586-1592. Wigby K, Twigg SRF, Broderick R, Davenport KP, Wilkie AOM, Bickler SW, Jones MC. PMID: 28386950; PMCID: PMC5933242.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    27. Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis. Am J Med Genet A. 2016 11; 170(11):2870-2881. Wigby K, D'Epagnier C, Howell S, Reicks A, Wilson R, Cordeiro L, Tartaglia N. PMID: 27644018; PMCID: PMC6501572.
      View in: PubMed   Mentions: 15  Translation:HumansCells
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