Kristen Wigby, M.D.

Bio

Dr. Kristen Wigby is a clinical geneticist and dysmorphologist at Rady Children's Hospital-San Diego and an assistant professor in the Department of Pediatrics at UC San Diego. She is the co-founder and medical director of Rady Children's Precision Medicine Clinic and the medical director of the Rady Children's Multidisciplinary Autism Clinic at Torrey Hills. She also evaluates patients in the Turner Syndrome Clinic and the Neurometabolic Clinic.

In her own practice, Dr. Wigby evaluates children with birth defects or those who are suspected of having a genetic problem or syndrome. Her philosophy of care is to partner with children and families throughout their journey from diagnosis through treatment, and to empower these children and families.

Dr. Wigby earned her medical degree from the University of California, San Diego School of Medicine and received the George G. Glenner Award for compassionate care and research achievements. She completed her pediatric residency at the University of Colorado, Denver and the Children's Hospital of Colorado. Upon completing her genetics fellowship at UC San Diego and Rady Children's Hospital, she joined the UC San Diego faculty.

Along with her clinical work, Dr. Wigby is a clinical investigator at the Rady Children's Institute for Genomic Medicine. Her research focuses on the delineation of rare 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 multidisciplinary care of females with Trisomy X.

When not working, Dr. Wigby enjoys spending time with her family, hiking and attending UCLA sporting events.

Publications

Adaptive functioning in children and adolescents with Trisomy X: An exploratory analysis
Wigby K, Cordeiro L, Wilson R, Angkustsiri K, Simon TJ, Tartaglia N

Genetic testing strategies in the newborn
Carroll J, Wigby K, Murray S

Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review
Galarreta CI, Wigby KM, Jones MC

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
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

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
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

Whole Exome Sequencing Guides �Pharmacotherapy for an Adolescent With Autism Spectrum Disorder and Psychosis
Wigby K, Nicolas S, Carpinello M, Ricciardi MT, Willis MJ

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico
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

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
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

A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis-lymphedema-telangiectasia syndrome
Wangberg H, Wigby K, Jones MC

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy
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

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
Hildreth A, Wigby K, Chowdhury S, Nahas S, Barea J, Ordonez P, Batalov S, Dimmock D, Kingsmore S.

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
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

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn
Wigby K, Twigg SRF, Broderick R, Davenport KP, Wilkie AOM, Bickler SW, Jones MC.

Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.
Wigby K, D'Epagnier C, Howell S, Reicks A, Wilson R, Cordeiro L, Tartaglia N