Kristen M Wigby

Title(s)Associate Professor, MED: Pediatrics
SchoolSchool of Medicine
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    1. A Machine Learning Decision Support Tool Optimizes Whole Genome Sequencing Utilization in a Neonatal Intensive Care Unit. medRxiv. 2024 Jul 07. Juarez EF, Peterson B, Kobayashi ES, Gilmer S, Tobin LE, Schultz B, Lenberg J, Carroll J, Bai-Tong S, Sweeney NM, Beebe C, Stewart L, Olsen L, Reinke J, Kiernan EA, Reimers R, Wigby K, Tackaberry C, Yandell M, Hobbs C, Bainbridge MN. PMID: 39006422; PMCID: PMC11245077.
      View in: PubMed   Mentions:
    2. Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders. NPJ Genom Med. 2024 Feb 26; 9(1):15. Wigby KM, Brockman D, Costain G, Hale C, Taylor SL, Belmont J, Bick D, Dimmock D, Fernbach S, Greally J, Jobanputra V, Kulkarni S, Spiteri E, Taft RJ. PMID: 38409289; PMCID: PMC10897481.
      View in: PubMed   Mentions:
    3. ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling. Nat Commun. 2023 11 01; 14(1):6770. Hirschenberger M, Lepelley A, Rupp U, Klute S, Hunszinger V, Koepke L, Merold V, Didry-Barca B, Wondany F, Bergner T, Moreau T, Rodero MP, Rösler R, Wiese S, Volpi S, Gattorno M, Papa R, Lynch SA, Haug MG, Houge G, Wigby KM, Sprague J, Lenberg J, Read C, Walther P, Michaelis J, Kirchhoff F, de Oliveira Mann CC, Crow YJ, Sparrer KMJ. PMID: 37914730; PMCID: PMC10620153.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    4. Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder. JAMA. 2023 07 11; 330(2):161-169. Maron JL, Kingsmore S, Gelb BD, Vockley J, Wigby K, Wigby K, Bragg J, Stroustrup A, Poindexter B, Suhrie K, Kim JH, Diacovo T, Powell CM, Trembath A, Guidugli L, Ellsworth KA, Reed D, Kurfiss A, Breeze JL, Trinquart L, Davis JM. PMID: 37432431; PMCID: PMC10336625.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansPHPublic Health
    5. Response to Grosse et al. Am J Hum Genet. 2023 06 01; 110(6):1017. Kingsmore SF, Smith LD, Kunard CM, Bainbridge M, Batalov S, Benson W, Blincow E, Caylor S, Chambers C, Del Angel G, Dimmock DP, Ding Y, Ellsworth K, Feigenbaum A, Frise E, Green RC, Guidugli L, Hall KP, Hansen C, Hobbs CA, Kahn SD, Kiel M, Van Der Kraan L, Krilow C, Kwon YH, Madhavrao L, Le J, Lefebvre S, Mardach R, Mowrey WR, Oh D, Owen MJ, Powley G, Scharer G, Shelnutt S, Tokita M, Mehtalia SS, Oriol A, Papadopoulos S, Perry J, Rosales E, Sanford E, Schwartz S, Tran D, Reese MG, Wright M, Veeraraghavan N, Wigby K, Wigby K, Willis MJ, Wolen AR, Defay T. PMID: 37267897; PMCID: PMC10256999.
      View in: PubMed   Mentions: 1     Fields:    
    6. ARF1-related disorder: phenotypic and molecular spectrum. J Med Genet. 2023 10; 60(10):999-1005. de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, Hannibal I, Lenberg J, Krenn M, Wigby KM, Wigby KM, Friedman JR, Iascone M, Cereda A, Miao T, LeGuern E, Argilli E, Sherr E, Caluseriu O, Tidwell T, Bayrak-Toydemir P, Hagedorn C, Brugger M, Vill K, Morneau-Jacob FD, Chung W, Weaver KN, Owens JW, Husami A, Chaudhari BP, Stone BS, Burns K, Li R, de Lange IM, Biehler M, Ginglinger E, Gérard B, Stottmann RW, Trimouille A. PMID: 37185208; PMCID: PMC10579487.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    7. Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature. Am J Med Genet A. 2023 05; 191(5):1378-1383. Yassin SH, Henderson R, Lenberg J, Murillo V, Murdock DR, Friedman J, Jones MC, Wigby K, Wigby K, Borooah S. PMID: 36718996.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    8. Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing. Am J Med Genet A. 2023 04; 191(4):930-940. Wigby K, Wigby K, Hammer M, Tokita M, Patel P, Jones MC, Larson A, Bartolomei FV, Dykzeul N, Slavotinek A, Yip T, Bandres-Ciga S, Simpson BN, Suhrie K, Shankar S, Veith R, Bragg J, Powell C, Kingsmore SF, Dimmock D, Maron J, Davis J, Del Campo M. PMID: 36651673.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    9. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genet Med. 2023 01; 25(1):135-142. Cali E, Suri M, Scala M, Ferla MP, Alavi S, Faqeih EA, Bijlsma EK, Wigby KM, Wigby KM, Baralle D, Mehrjardi MYV, Schwab J, Platzer K, Steindl K, Hashem M, Jones M, Niyazov DM, Jacober J, Littlejohn RO, Weis D, Zadeh N, Rodan L, Goldenberg A, Lecoquierre F, Dutra-Clarke M, Horvath G, Young D, Orenstein N, Bawazeer S, Vulto-van Silfhout AT, Herenger Y, Dehghani M, Seyedhassani SM, Bahreini A, Nasab ME, Ercan-Sencicek AG, Firoozfar Z, Movahedinia M, Efthymiou S, Striano P, Karimiani EG, Salpietro V, Taylor JC, Redman M, Stegmann APA, Laner A, Abdel-Salam G, Li M, Bengala M, Müller AJ, Digilio MC, Rauch A, Gunel M, Titheradge H, Schweitzer DN, Kraus A, Valenzuela I, McLean SD, Phornphutkul C, Salih M, Begtrup A, Schnur RE, Torti E, Haack TB, Prada CE, Alkuraya FS, Houlden H, Maroofian R. PMID: 36399134; PMCID: PMC10620944.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    10. Approaches to long-read sequencing in a clinical setting to improve diagnostic rate. Sci Rep. 2022 10 09; 12(1):16945. Sanford Kobayashi E, Batalov S, Wenger AM, Lambert C, Dhillon H, Hall RJ, Baybayan P, Ding Y, Rego S, Wigby K, Wigby K, Friedman J, Hobbs C, Bainbridge MN. PMID: 36210382; PMCID: PMC9548499.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    11. A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases. Am J Hum Genet. 2022 09 01; 109(9):1605-1619. Kingsmore SF, Smith LD, Kunard CM, Bainbridge M, Batalov S, Benson W, Blincow E, Caylor S, Chambers C, Del Angel G, Dimmock DP, Ding Y, Ellsworth K, Feigenbaum A, Frise E, Green RC, Guidugli L, Hall KP, Hansen C, Hobbs CA, Kahn SD, Kiel M, Van Der Kraan L, Krilow C, Kwon YH, Madhavrao L, Le J, Lefebvre S, Mardach R, Mowrey WR, Oh D, Owen MJ, Powley G, Scharer G, Shelnutt S, Tokita M, Mehtalia SS, Oriol A, Papadopoulos S, Perry J, Rosales E, Sanford E, Schwartz S, Tran D, Reese MG, Wright M, Veeraraghavan N, Wigby K, Wigby K, Willis MJ, Wolen AR, Defay T. PMID: 36007526; PMCID: PMC9502059.
      View in: PubMed   Mentions: 48     Fields:    Translation:HumansPHPublic Health
    12. An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases. Nat Commun. 2022 07 26; 13(1):4057. Owen MJ, Lefebvre S, Hansen C, Kunard CM, Dimmock DP, Smith LD, Scharer G, Mardach R, Willis MJ, Feigenbaum A, Niemi AK, Ding Y, Van Der Kraan L, Ellsworth K, Guidugli L, Lajoie BR, McPhail TK, Mehtalia SS, Chau KK, Kwon YH, Zhu Z, Batalov S, Chowdhury S, Rego S, Perry J, Speziale M, Nespeca M, Wright MS, Reese MG, De La Vega FM, Azure J, Frise E, Rigby CS, White S, Hobbs CA, Gilmer S, Knight G, Oriol A, Lenberg J, Nahas SA, Perofsky K, Kim K, Carroll J, Coufal NG, Sanford E, Wigby K, Wigby K, Weir J, Thomson VS, Fraser L, Lazare SS, Shin YH, Grunenwald H, Lee R, Jones D, Tran D, Gross A, Daigle P, Case A, Lue M, Richardson JA, Reynders J, Defay T, Hall KP, Veeraraghavan N, Kingsmore SF. PMID: 35882841; PMCID: PMC9325884.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    13. Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome. J Med Genet. 2022 11; 59(11):1058-1068. 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, Wigby KM, Lenberg J, Graziano C, Ahrens-Nicklas RC, Lefebvre V. PMID: 35232796; PMCID: PMC9433470.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    14. 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, Francisco-Velilla R, Embarc-Buh A, Martinez-Salas E, Wigby K, Wigby K, Lenberg J, Friedman JR, Kruer MC, Pandey UB. PMID: 35295849; PMCID: PMC8918504.
      View in: PubMed   Mentions: 11  
    15. 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, Wigby K, Phillips SA, Bakhoum C, Naheedy J, Cernelc-Kohan M. PMID: 35189965; PMCID: PMC8862239.
      View in: PubMed   Mentions:
    16. 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, Wigby K. PMID: 35026043; PMCID: PMC8863643.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    17. 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, 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: 4     Fields:    Translation:Humans
    18. 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, Wigby K, Friedman J, Xia X, Shchepinov MS, Ramesh SK, Conrad M, Stockwell BR. PMID: 34931062; PMCID: PMC8712418.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    19. 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, Wigby KM, Hall MD, Ramesh SK. PMID: 34688299; PMCID: PMC8542321.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    20. 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, Wigby K, Cameron M. PMID: 34395718; PMCID: PMC8361551.
      View in: PubMed   Mentions:
    21. 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, Wigby K, Zadeh N, Farnaes L. PMID: 34089648; PMCID: PMC8322922.
      View in: PubMed   Mentions: 88     Fields:    Translation:Humans
    22. 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, 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.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    23. 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, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. PMID: 33686260.
      View in: PubMed   Mentions: 1     Fields:    
    24. 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, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. PMID: 33299146.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    25. 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, Wigby K, Farnaes L, Bloss CS, Kingsmore SF, RCIGM Investigators. PMID: 33157007; PMCID: PMC7675004.
      View in: PubMed   Mentions: 68     Fields:    Translation:Humans
    26. 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, Wigby K, Cordeiro L, Wilson R, Angkustsiri K, Simon TJ, Tartaglia N. PMID: 32548885; PMCID: PMC8363475.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    27. Genetic testing strategies in the newborn. J Perinatol. 2020 07; 40(7):1007-1016. Carroll J, Wigby K, Wigby K, Murray S. PMID: 32472107.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    28. 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, Wigby KM, Jones MC. PMID: 31162149.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    29. 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, Wigby K, Wong T, Chowdhury S, Wright MS, Dimmock D, RCIGM Investigators. PMID: 31564432; PMCID: PMC6817534.
      View in: PubMed   Mentions: 156     Fields:    Translation:Humans
    30. 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, 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; PMCID: PMC9512059.
      View in: PubMed   Mentions: 114     Fields:    Translation:Humans
    31. 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, Wigby K, Nicolas S, Carpinello M, Ricciardi MT, Willis MJ. PMID: 30832905.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    32. 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, 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: 43  
    33. 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, 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: 23     Fields:    Translation:HumansCells
    34. 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, Wigby K, Jones MC. PMID: 30549413.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    35. 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, 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: 31     Fields:    Translation:HumansCells
    36. 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, 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: 9     Fields:    Translation:Humans
    37. 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, 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: 18     Fields:    Translation:Humans
    38. 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, 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
    39. 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, Wigby K, D'Epagnier C, Howell S, Reicks A, Wilson R, Cordeiro L, Tartaglia N. PMID: 27644018; PMCID: PMC6501572.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansCells
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