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Author Details

Liliana Fernandez
Stanford Center for Undiagnosed Diseases
2005
18
9
PMIDPaper TitleJournal TitlePublished Year
34668327Variable clinical severity in TANGO2 deficiency: Case series and literature review.Am J Med Genet A2022
36072659Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease.Front Genet2022
34981646Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.Am J Med Genet A2022
33970744Compound heterozygous <i>KCTD7</i> variants in progressive myoclonus epilepsy.J Neurogenet2021
30964584A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.J Genet Couns2019
31967585Cardiac sympathetic denervation for conventional treatment refractory arrhythmias.Arch Cardiol Mex2019
30220408Clinical and Mutational Aspects of Non-small Cell Lung Cancer in a Latin American Reference Center.Arch Bronconeumol (Engl Ed)2019
31478310Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.J Genet Couns2019
29478781Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.Am J Hum Genet2018
30555782Sleeve pneumonectomy and carinal resection for management of primary adenoid cystic tumor of the lung with carinal extension: Report of two cases.Respir Med Case Rep2018
28050602Exome sequencing identifies de novo pathogenic variants in <i>FBN1</i> and <i>TRPS1</i> in a patient with a complex connective tissue phenotype.Cold Spring Harb Mol Case Stud2017
24098143Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.PLoS Genet2013
22548560Predation ability and non-consumptive effects of Notonecta sellata (Heteroptera: Notonectidae) on immature stages of Culex pipiens (Diptera: Culicidae).J Vector Ecol2012
22632539External fixation of proximal tracheal airway stents: a modified technique.Ann Thorac Surg2012
20004507[Tracheobronchomalacia].Arch Bronconeumol2010
19387734An N-ethyl-N-nitrosourea mutagenesis recessive screen identifies two candidate regions for murine cardiomyopathy that map to chromosomes 1 and 15.Mamm Genome2009
17377738Diffuse alveolar hemorrhage in Colombian patients with systemic lupus erythematosus.Clin Rheumatol2007
16075368QTL mapping in a mouse model of cardiomyopathy reveals an ancestral modifier allele affecting heart function and survival.Mamm Genome2005
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Collaborators

Jonathan A Bernstein
Stanford University
Co-authored papers 7
Jennefer N Kohler
Stanford Center for Undiagnosed Diseases
Co-authored papers 5
Paul G Fisher
Stanford University
Co-authored papers 5
Euan A Ashley
Stanford University
Co-authored papers 4
Matthew T Wheeler
Stanford University School of Medicine
Co-authored papers 4
Matthew T Wheeler
Center for Undiagnosed Diseases, Stanford University
Co-authored papers 4
Annika M Dries
Center for Inherited Cardiovascular Disease, Stanford University School of Medicine
Co-authored papers 3
Gregory M Enns
Lucile Packard Children's Hospital and Stanford University
Co-authored papers 3
Laure Fr??sard
Invitae Corporation
Co-authored papers 2
Stephen B Montgomery
Stanford University
Co-authored papers 2
Tina M Cowan
Clinical Biochemical Genetics Laboratory
Co-authored papers 2
Shruti Marwaha
Stanford University
Co-authored papers 2
Holly K Tabor
Stanford Center for Biomedical Ethics (SCBE), Stanford University
Co-authored papers 2
Daryl Waggott
Ontario Institute for Cancer Research
Co-authored papers 2
Megan E Grove
Stanford Medicine Clinical Genomics Program
Co-authored papers 2
Jean M Davidson
Stanford University School of Medicine
Co-authored papers 2
Dianna G Fisk
Stanford Medicine Clinical Genomics Program
Co-authored papers 2
Chunli Zhao
Center for Undiagnosed Diseases, Stanford University
Co-authored papers 1
Erika M Zink
Pacific Northwest National Laboratory
Co-authored papers 1
Charu Deshpande
Guy's Hospital
Co-authored papers 1
Thomas C Markello
National Institutes of Health
Co-authored papers 1
Kelly G Stratton
Pacific Northwest National Laboratory
Co-authored papers 1
Camilo Toro
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 1
Lynne A Wolfe
National Institutes of Health Undiagnosed Diseases Program
Co-authored papers 1
Johan L K Van Hove
Section of Clinical Genetics and Metabolism, University of Colorado
Co-authored papers 1
Hugo J Bellen
Baylor College of Medicine
Co-authored papers 1
Zachary Zappala
Vertex Pharmaceuticals
Co-authored papers 1
Vandana Shashi
Duke University School of Medicine
Co-authored papers 1
Michael F Wangler
Baylor College of Medicine
Co-authored papers 1
Abdel G Elkahloun
National Human Genome Research Institute
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Release 1.2