Kristen Wigby

发表

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.

Jill L. Maron, S. Kingsmore, B. Poindexter, 2021, JAMA pediatrics.

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

John Reynders, Martin G. Reese, Patrick Mulrooney, 2019, Science Translational Medicine.

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

Denise L. Perry, J. Rosenfeld, R. Taft, 2018, American journal of human genetics.

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

Denise L. Perry, Vladimir G. Gainullin, S. S. Ajay, 2019, npj Genomic Medicine.

Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.

S. Kingsmore, R. H. Kaplan, Bryce Waldman, 2021, American journal of human genetics.

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

Joshua C. Euteneuer, Denise L. Perry, I. Krantz, 2021, JAMA pediatrics.

A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis–lymphedema–telangiectasia syndrome

Marilyn C. Jones, Kristen Wigby, H. Wangberg, 2018, American journal of medical genetics. Part A.

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

Kiely N. James, S. Kingsmore, S. Chowdhury, 2019, Nature Communications.

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

Kiely N. James, S. Kingsmore, M. Bainbridge, 2019, American journal of human genetics.

To Be or No B2: A Rare Cause of Stridor and Weakness in a Toddler

Kristen Wigby, L. Guidugli, Melissa A Cameron, 2021, Child neurology open.

Gastrointestinal disorders in Curry–Jones syndrome: Clinical and molecular insights from an affected newborn

S. Bickler, S. Twigg, A. Wilkie, 2017, American journal of medical genetics. Part A.

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

Francisco M. De La Vega, Laurie D. Smith, J. Weir, 2022, Nature Communications.

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.

Kiely N. James, S. Kingsmore, M. Bainbridge, 2020, American journal of human genetics.

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

S. Kingsmore, Serge Batalov, S. Chowdhury, 2017, Cold Spring Harbor molecular case studies.

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

Laurie D. Smith, Scott D. Kahn, G. Del Angel, 2022, American journal of human genetics.

Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities

A. Muotri, B. Stockwell, M. Hall, 2021, Orphanet Journal of Rare Diseases.

Approaches to long-read sequencing in a clinical setting to improve diagnostic rate

P. Baybayan, M. Bainbridge, A. Wenger, 2022, Scientific Reports.

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome

V. Lefebvre, R. Bökenkamp, D. Barge-Schaapveld, 2022, Journal of Medical Genetics.

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5

Z. Niu, Kristen Wigby, J. Friedman, 2022, Frontiers in Cell and Developmental Biology.

Genetic testing strategies in the newborn

Kristen Wigby, Jeanne Carroll, Sarah Murray, 2020, Journal of Perinatology.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

A. V. Vulto-van Silfhout, D. Baralle, P. Striano, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.

Marilyn C. Jones, Kristen Wigby, C. Galarreta, 2019, Clinical dysmorphology.

Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis

Kristen Wigby, N. Tartaglia, S. Howell, 2016, American journal of medical genetics. Part A.

Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes

D. Koboldt, R. Hegele, S. Farhan, 2022, Human mutation.

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

A. Hamosh, Marilyn C. Jones, P. Kruszka, 2017, European Journal of Human Genetics.

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

W. Chung, Kristen Wigby, C. Fagerberg, 2022, Genes.

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

D. Bentley, J. Belmont, R. Taft, 2019, npj Genomic Medicine.