Hane Lee

Summary

Affiliation: University of California
Country: USA

Publications

  1. pmc Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, California, USA
    BMC Genomics 10:646. 2009
  2. pmc Phenotypic and genetic analysis of a large family with migraine-associated vertigo
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
    Headache 48:1460-7. 2008
  3. pmc U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line
    Michael James Clark
    Department of Human Genetics, University of California Los Angeles, Los Angeles, California, United States of America
    PLoS Genet 6:e1000832. 2010
  4. pmc Melanoma whole-exome sequencing identifies (V600E)B-RAF amplification-mediated acquired B-RAF inhibitor resistance
    Hubing Shi
    Division of Dermatology, Department of Medicine, University of California, Los Angeles, 52 121 CHS, 10833 Le Conte Avenue, California 90095 1750, USA
    Nat Commun 3:724. 2012
  5. ncbi request reprint A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, 90095, USA
    Hum Mol Genet 15:251-8. 2006
  6. ncbi request reprint A new episodic ataxia syndrome with linkage to chromosome 19q13
    Kevin A Kerber
    Department of Neurology, UCLA, Los Angeles, California 90095 1769, USA
    Arch Neurol 64:749-52. 2007
  7. pmc Identification of EpCAM as the gene for congenital tufting enteropathy
    Mamata Sivagnanam
    Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of California San Diego, La Jolla, California, USA
    Gastroenterology 135:429-37. 2008
  8. ncbi request reprint Association of progesterone receptor with migraine-associated vertigo
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA
    Neurogenetics 8:195-200. 2007
  9. ncbi request reprint Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse
    Ganka Nikolova
    Department of Human Genetics, University of California, 695 Charles Young Drive South, Gonda Room 5506, Los Angeles, CA, 90095 7088, USA
    Hum Genet 120:847-56. 2007
  10. doi request reprint Truncating mutations in APP cause a distinct neurological phenotype
    Steven Klein
    Department of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, California
    Ann Neurol 80:456-60. 2016

Collaborators

Detail Information

Publications27

  1. pmc Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, California, USA
    BMC Genomics 10:646. 2009
    ..This approach is being used by our group and others routinely and we are continuing to improve its performance...
  2. pmc Phenotypic and genetic analysis of a large family with migraine-associated vertigo
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
    Headache 48:1460-7. 2008
    ..To describe a large multigenerational family with migraine-associated vertigo (MAV) combining a detailed phenotypic and genetic analysis...
  3. pmc U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line
    Michael James Clark
    Department of Human Genetics, University of California Los Angeles, Los Angeles, California, United States of America
    PLoS Genet 6:e1000832. 2010
    ..The sequence analysis of U87MG provides an unparalleled level of mutational resolution compared to any cell line to date...
  4. pmc Melanoma whole-exome sequencing identifies (V600E)B-RAF amplification-mediated acquired B-RAF inhibitor resistance
    Hubing Shi
    Division of Dermatology, Department of Medicine, University of California, Los Angeles, 52 121 CHS, 10833 Le Conte Avenue, California 90095 1750, USA
    Nat Commun 3:724. 2012
    ..Thus, alternative clinical strategies may potentially overcome distinct modes of extracellular signal-regulated kinase reactivation underlying acquired B-RAF inhibitor resistance in melanoma...
  5. ncbi request reprint A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, 90095, USA
    Hum Mol Genet 15:251-8. 2006
    ..Additional family and population-based linkage and association studies will be needed to determine the causative alleles...
  6. ncbi request reprint A new episodic ataxia syndrome with linkage to chromosome 19q13
    Kevin A Kerber
    Department of Neurology, UCLA, Los Angeles, California 90095 1769, USA
    Arch Neurol 64:749-52. 2007
    ..Multiple episodic ataxia phenotypes and genotypes have been described...
  7. pmc Identification of EpCAM as the gene for congenital tufting enteropathy
    Mamata Sivagnanam
    Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of California San Diego, La Jolla, California, USA
    Gastroenterology 135:429-37. 2008
    ..The pathogenesis and genetics of this disorder are not well understood. The objective of this study was to identify the gene responsible for CTE...
  8. ncbi request reprint Association of progesterone receptor with migraine-associated vertigo
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA
    Neurogenetics 8:195-200. 2007
    ..0007). Two SNPs (rs2228480 and rs1801132) within ESR1 demonstrated no significant association. No synergistic effect between ESR1 variants and PGR variants was identified...
  9. ncbi request reprint Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse
    Ganka Nikolova
    Department of Human Genetics, University of California, 695 Charles Young Drive South, Gonda Room 5506, Los Angeles, CA, 90095 7088, USA
    Hum Genet 120:847-56. 2007
    ..Altogether these data suggest that a polymorphism in the promoter of LAMC1 may increase the susceptibility to early-onset pelvic organ prolapse...
  10. doi request reprint Truncating mutations in APP cause a distinct neurological phenotype
    Steven Klein
    Department of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, California
    Ann Neurol 80:456-60. 2016
    ..We compare the phenotype of this case to those reported in mouse models and demonstrate multiple similarities, strengthening the role of amyloid precursor protein in normal brain function and development. Ann Neurol 2016;80:456-460. ..
  11. pmc Clinical exome sequencing for genetic identification of rare Mendelian disorders
    Hane Lee
    Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles2Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles
    JAMA 312:1880-7. 2014
    ..Clinical exome sequencing (CES) is rapidly becoming a common molecular diagnostic test for individuals with rare genetic disorders...
  12. pmc Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory
    Samuel P Strom
    1 Department of Pathology and Laboratory Medicine David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA 2 Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA
    Genet Med 16:510-5. 2014
    ..We sought to assess the accuracy of next-generation sequencing variant identification in our clinical genomics laboratory with the goal of establishing a quality score threshold for confirmatory Sanger-based testing...
  13. pmc Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
    Valerie A Arboleda
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, USA
    Nat Genet 44:788-92. 2012
    ..All IMAGe-associated mutations clustered in the PCNA-binding domain of CDKN1C and resulted in loss of PCNA binding, distinguishing them from the mutations of CDKN1C that cause Beckwith-Wiedemann syndrome, an overgrowth syndrome...
  14. pmc Clinical exome sequencing in neurogenetic and neuropsychiatric disorders
    Brent L Fogel
    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California
    Ann N Y Acad Sci 1366:49-60. 2016
    ....
  15. doi request reprint Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing
    Natalia Babkina
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA Electronic address
    Eur J Med Genet 59:70-4. 2016
    ..This unique case expands the range of phenotypes associated with variants in ZEB2 and indicates that this gene should be included in the molecular investigation of EIEE cases. ..
  16. pmc De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
    Samuel P Strom
    Clinical Genomics Center, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA
    BMC Med Genet 15:49. 2014
    ..MIM#: 605130]. Here we report two unrelated children for whom clinical exome sequencing of parent-proband trios was performed at UCLA, resulting in a molecular diagnosis of WSS and atypical clinical presentation...
  17. pmc Exome sequencing identifies PDE4D mutations in acrodysostosis
    Hane Lee
    Department of Human Genetics, University of California Los Angeles, CA 90095, USA
    Am J Hum Genet 90:746-51. 2012
    ..These findings demonstrate that acrodysostosis is genetically heterogeneous and underscore the exquisite sensitivity of many tissues to alterations in cAMP homeostasis...
  18. doi request reprint Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation
    Laurel Truscott
    Department of Pediatrics, Mattel Children s Hospital at UCLA, David Geffen School of Medicine, University of California, Los Angeles, California
    Pediatr Blood Cancer 64:100-102. 2017
    ..We suggest that this novel variant in PKD1 may convey increased risk for FTGCT in addition to causing ADPKD...
  19. pmc Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders
    Robert Brown
    Bioinformatics Interdepartmental Program, University of California Los Angeles, Los Angeles, CA, USA
    Eur J Hum Genet 24:113-9. 2016
    ....
  20. pmc De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay
    Valerie A Arboleda
    Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA
    Am J Hum Genet 96:498-506. 2015
    ..Through histone and non-histone acetylation, KAT6A affects multiple cellular processes and illustrates the complex role of acetylation in regulating development and disease...
  21. pmc Accuracy of phenotyping of autistic children based on Internet implemented parent report
    Hane Lee
    Department of Human Genetics, University of California Los Angeles, 695 Charles E Young Dr South, Los Angeles, CA 90095, USA
    Am J Med Genet B Neuropsychiatr Genet 153:1119-26. 2010
    ..These data support the reliability and feasibility of the IAN-implemented parent-report paradigms for the ascertainment of clinical ASD for large-scale genetic research...
  22. pmc Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure
    Arnaud Lacombe
    Department of Human Genetics, University of California at Los Angeles, 90095, USA
    Am J Hum Genet 79:113-9. 2006
    ..Our study suggests that a homozygous point mutation in POF1B influences the pathogenesis of POF by altering POF1B binding to nonmuscle actin filaments...
  23. pmc Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation
    Ramin Nazarian
    Division of Dermatology Department of Medicine, UCLA s Jonsson Comprehensive Cancer Center, 52 121 CHS, Los Angeles, California 90095 1750, USA
    Nature 468:973-7. 2010
    ....
  24. doi request reprint A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant
    Jihane N Benhammou
    Division of Digestive Diseases, Department of Medicine, and Departments of Pathology and Laboratory Medicine and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
    J Mol Neurosci . 2016
    ..This case report proposes that a rare variant p.Pro1629Leu in SCN4A can cause a skeletal muscle deficit with intermittent dysphagia...
  25. pmc Exome sequencing for the diagnosis of 46,XY disorders of sex development
    Ruth M Baxter
    Departments of Human Genetics R M B, V A A, H B, A E, S F N, E D, E V and Pathology and Laboratory Medicine V A A, H L, S F N, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California 90095 Department of Pediatrics M P A, University of Washington, Seattle, Washington 98195 Department of Endocrinology P Y F, Seattle Children s Hospital, Seattle, Washington 98105 Nassau University Medical Center R B, East Meadow, New York 11554 Departments of Pediatrics and Human Genetics C K, Ann Arbor, Michigan 48109 The Children s Hospital Colorado S T, Aurora, Colorado 80045 Division of Medical Genetics S S, L H, Stanford University, Lucile Packard Children s Hospital, Stanford, California 94305 TriStar Children s Specialists R P M, Nashville, Tennessee 37203 Division of Pediatric Genetics and Metabolism H J S, R Z, University of Florida, Gainesville, Florida 32610 Cedars Sinai Medical Center O K G, Los Angeles, California 90048 Children s Hospital of Los Angeles L R P, Los Angeles, Porto Alegre-RS
    J Clin Endocrinol Metab 100:E333-44. 2015
    ..In particular, for cases of 46,XY gonadal dysgenesis, once variants in SRY and NR5A1 have been ruled out, there are few other single gene tests available...
  26. pmc Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome
    Steven Klein
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    J Med Genet 51:294-302. 2014
    ..Here we report a novel syndrome termed GLOW, an acronym for its core phenotypic findings, which include Global developmental delay, Lung cysts, Overgrowth and Wilms tumour caused by mutations in the RNase IIIb domain of DICER1...
  27. ncbi request reprint A novel mutation in KCNA1 causes episodic ataxia without myokymia
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, California, USA
    Hum Mutat 24:536. 2004
    ..This mutation leads to a distinct clinical phenotype without myokymia broadening the scope of clinical characteristics of EA1 and highlighting the heterogeneity of phenotypic effects from distinct missense mutations...