Hane Lee

Hane Lee

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Hane Lee

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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 Jul 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Clinical application of next-generation sequencing to the practice of neurology.

Lancet Neurol 2019 May;18(5):492-503

Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA; Clinical Neurogenomics Research Center, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S14744422193003
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http://dx.doi.org/10.1016/S1474-4422(19)30033-XDOI Listing
May 2019

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Am J Hum Genet 2018 12;103(6):948-967

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, NHGRI and the Common Fund, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279PMC
December 2018

The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling.

Sci Transl Med 2018 09;10(459)

Department of Orthopaedic Surgery, University of California-Los Angeles, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1126/scitranslmed.aat9356DOI Listing
September 2018

Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.

Eur J Med Genet 2017 Oct 4;60(10):504-508. Epub 2017 Jul 4.

Division of Medical Genetics, Department of Pediatrics, UCSF, San Francisco, CA 94143-2711, USA.

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http://dx.doi.org/10.1016/j.ejmg.2017.07.003DOI Listing
October 2017

A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.

J Mol Neurosci 2017 Mar 23;61(3):312-314. Epub 2016 Dec 23.

Division of Digestive Diseases, Department of Medicine, and Departments of Pathology & Laboratory Medicine and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

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http://dx.doi.org/10.1007/s12031-016-0878-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346050PMC
March 2017

Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation.

Pediatr Blood Cancer 2017 01 31;64(1):100-102. Epub 2016 Aug 31.

Department of Pediatrics, Mattel Children's Hospital at UCLA, David Geffen School of Medicine, University of California, Los Angeles, California.

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http://dx.doi.org/10.1002/pbc.26197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937546PMC
January 2017

Truncating mutations in APP cause a distinct neurological phenotype.

Ann Neurol 2016 Sep 4;80(3):456-60. Epub 2016 Aug 4.

Department of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/ana.24727DOI Listing
September 2016

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.

Mol Genet Metab 2016 09 4;119(1-2):91-9. Epub 2016 Jul 4.

Division of Metabolic Disorders, CHOC Children's, Orange, CA 92868, USA; Department of Pediatrics, University of California Irvine, Orange, CA 92868, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.07.001DOI Listing
September 2016

Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.

Ann N Y Acad Sci 2016 02 6;1366(1):49-60. Epub 2015 Aug 6.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1111/nyas.12850DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4744590PMC
February 2016

An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.

Genes Chromosomes Cancer 2016 Feb 6;55(2):131-42. Epub 2015 Nov 6.

Pathology and Laboratory Medicine, University of California at Los Angeles, David Geffen School of Medicine, Los Angeles, CA, 90095.

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http://dx.doi.org/10.1002/gcc.22319DOI Listing
February 2016

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

Eur J Med Genet 2016 Feb 22;59(2):70-4. Epub 2015 Dec 22.

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; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.

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http://dx.doi.org/10.1016/j.ejmg.2015.12.006DOI Listing
February 2016

Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders.

Eur J Hum Genet 2016 Jan 22;24(1):113-9. Epub 2015 Apr 22.

Bioinformatics Interdepartmental Program, University of California Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1038/ejhg.2015.68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795218PMC
January 2016

A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).

Am J Med Genet A 2015 Oct 22;167A(10):2470-3. Epub 2015 May 22.

Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.37173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5036935PMC
October 2015

Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects.

Hum Mol Genet 2015 Jun 24;24(11):3163-71. Epub 2015 Feb 24.

Institute of Medical Biology, A*STAR, 8A Biomedical Grove, Singapore 138648, Singapore Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore

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http://dx.doi.org/10.1093/hmg/ddv067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424953PMC
June 2015

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

Am J Hum Genet 2015 Mar 26;96(3):498-506. Epub 2015 Feb 26.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375619PMC
March 2015

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

J Clin Endocrinol Metab 2015 Feb 10;100(2):E333-44. Epub 2014 Nov 10.

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, California 90027; and Departments of Pediatrics (A.P.-H., E.D., E.V.) and Urology (E.V.), David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California 90095.

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http://dx.doi.org/10.1210/jc.2014-2605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318895PMC
February 2015

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

JAMA 2014 Nov;312(18):1880-7

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 Angeles6Department of Human Genetics, David Ge.

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http://dx.doi.org/10.1001/jama.2014.14604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278636PMC
November 2014

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

JAMA Neurol 2014 Oct;71(10):1237-46

Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles2Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles3UCLA Clin.

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http://dx.doi.org/10.1001/jamaneurol.2014.1944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4324730PMC
October 2014

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.

Genet Med 2014 Jul 9;16(7):510-5. Epub 2014 Jan 9.

Department of Pathology and Laboratory Medicine¸ David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.

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http://dx.doi.org/10.1038/gim.2013.183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4079763PMC
July 2014

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.

Hum Mol Genet 2014 Jul 5;23(13):3481-9. Epub 2014 Feb 5.

Department of Pathology and Laboratory Medicine, Department of Human Genetics, University of California, Los Angeles, CA 90095, USA

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http://dx.doi.org/10.1093/hmg/ddu056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049306PMC
July 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function.

Science 2013 Aug 8;341(6148):896-9. Epub 2013 Aug 8.

Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242-1101, USA.

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http://dx.doi.org/10.1126/science.1239951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848040PMC
August 2013

Rethinking clinical practice: clinical implementation of exome sequencing.

Per Med 2012 Nov;9(8):785-787

Department of Pathology & Laboratory Medicine & Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.2217/pme.12.101DOI Listing
November 2012

Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.

Nat Genet 2012 May 13;44(6):709-13. Epub 2012 May 13.

Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.

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http://dx.doi.org/10.1038/ng.2259DOI Listing
May 2012

Exome sequencing identifies PDE4D mutations in acrodysostosis.

Am J Hum Genet 2012 Apr 29;90(4):746-51. Epub 2012 Mar 29.

Department of Human Genetics, University of California-Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1016/j.ajhg.2012.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322224PMC
April 2012

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV.

Bioinformatics 2011 Oct 9;27(19):2648-54. Epub 2011 Aug 9.

Department of Biostatistics, Harvard School of Public Health, Boston, MA 02115, USA.

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http://dx.doi.org/10.1093/bioinformatics/btr462DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179661PMC
October 2011

Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation.

Nature 2010 Dec 24;468(7326):973-7. Epub 2010 Nov 24.

Division of Dermatology/Department of Medicine, UCLA's Jonsson Comprehensive Cancer Center, 52-121 CHS, Los Angeles, California 90095-1750, USA.

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http://dx.doi.org/10.1038/nature09626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3143360PMC
December 2010

Accuracy of phenotyping of autistic children based on Internet implemented parent report.

Am J Med Genet B Neuropsychiatr Genet 2010 Sep;153B(6):1119-26

Department of Human Genetics, University of California-Los Angeles, 695 Charles E. Young Dr. South, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1002/ajmg.b.31103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4311721PMC
September 2010

U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line.

PLoS Genet 2010 Jan 29;6(1):e1000832. Epub 2010 Jan 29.

Department of Human Genetics, University of California Los Angeles, Los Angeles, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1000832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2813426PMC
January 2010

Phenotypic and genetic analysis of a large family with migraine-associated vertigo.

Headache 2008 Nov-Dec;48(10):1460-7. Epub 2007 Dec 11.

Department of Human Genetics, University of California, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1111/j.1526-4610.2007.01002.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846425PMC
February 2009

Identification of EpCAM as the gene for congenital tufting enteropathy.

Gastroenterology 2008 Aug 15;135(2):429-37. Epub 2008 May 15.

Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of California San Diego, La Jolla, California, USA.

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http://dx.doi.org/10.1053/j.gastro.2008.05.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2574708PMC
August 2008

Association of progesterone receptor with migraine-associated vertigo.

Neurogenetics 2007 Aug 3;8(3):195-200. Epub 2007 Jul 3.

Department of Human Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA.

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http://link.springer.com/content/pdf/10.1007/s10048-007-0091
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http://link.springer.com/10.1007/s10048-007-0091-3
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http://dx.doi.org/10.1007/s10048-007-0091-3DOI Listing
August 2007

A new episodic ataxia syndrome with linkage to chromosome 19q13.

Arch Neurol 2007 May;64(5):749-52

Department of Neurology, UCLA, Los Angeles, California 90095-1769, USA.

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http://dx.doi.org/10.1001/archneur.64.5.749DOI Listing
May 2007

Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse.

Hum Genet 2007 Feb 5;120(6):847-56. Epub 2006 Oct 5.

Department of Human Genetics, University of California, 695 Charles Young Drive South, Gonda Room 5506, Los Angeles, CA, 90095-7088, USA.

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http://dx.doi.org/10.1007/s00439-006-0267-1DOI Listing
February 2007

Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure.

Am J Hum Genet 2006 Jul 26;79(1):113-9. Epub 2006 May 26.

Department of Human Genetics, University of California at Los Angeles, 90095, USA.

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http://dx.doi.org/10.1086/505406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474115PMC
July 2006

A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity.

Hum Mol Genet 2006 Jan 5;15(2):251-8. Epub 2005 Dec 5.

Department of Human Genetics, University of California, Los Angeles, 90095, USA.

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http://dx.doi.org/10.1093/hmg/ddi441DOI Listing
January 2006

A novel mutation in KCNA1 causes episodic ataxia without myokymia.

Hum Mutat 2004 Dec;24(6):536

Department of Human Genetics, University of California, Los Angeles, California, USA.

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http://dx.doi.org/10.1002/humu.9295DOI Listing
December 2004

Characterization of the movement of the kinesin motor KIF1A in living cultured neurons.

J Biol Chem 2003 Jan 14;278(4):2624-9. Epub 2002 Nov 14.

Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Daejeon 305-701, Korea.

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http://www.jbc.org/content/278/4/2624.full.pdf
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http://www.jbc.org/cgi/doi/10.1074/jbc.M211152200
Publisher Site
http://dx.doi.org/10.1074/jbc.M211152200DOI Listing
January 2003