Hane Lee

Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA

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Papers71 papers

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Expansion of NEUROD2 phenotypes to include developmental delay without seizures

Emily K Mis, Annalisa G Sega, Rebecca H Signer, Tracy Cartwright, Weizhen Ji,Julian A Martinez-Agosto,Stanley F Nelson,Christina G S Palmer,Hane Lee, Thomas Mitzelfelt,Monica Konstantino, Lauren Jeffries

American journal of medical genetics. Part A, (2021)

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A Diagnostic Ceiling for Exome Sequencing in Cerebellar Ataxia and Related Neurological Disorders

Kathie J Ngo,Jessica E Rexach,Hane Lee, Lauren E Petty,Susan Perlman, Juliana M Valera,Joshua L Deignan, Yuanming Mao, Mamdouh Aker,Jennifer E Posey,Shalini N Jhangiani,Zeynep H Coban-Akdemir

HUMAN MUTATION, no. 2.0 (2020): 487-501

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Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

Anna Fliedner, Philipp Kirchner, Antje Wiesener, Irma van de Beek, Quinten Waisfisz,Mieke van Haelst,Daryl A. Scott,Seema R. Lalani,Jill A. Rosenfeld,Mahshid S. Azamian,Fan Xia, Marina Dutra-Clarke

American Journal of Human Genetics, no. 3 (2020): 544-554

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NUDT2 Associated Syndrome with Developmental Delay and Peripheral Neuropathy. (1629)

Shrikant Mishra, Shaweta Khosa,Hane Lee, Rebecca Singer, Frank Diaz, Robert Freundlich,Julian Martinez Agosto,Christina Palmer,Stanley F. Nelson, Brent L. Fogel

Neurology, (2020)

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The frontiers of sequencing in undiagnosed neurodevelopmental diseases

Hane Lee,Stanley F Nelson

Current Opinion in Genetics & Development, (2020): 76-83

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Novel NUDT2 variant causes intellectual disability and polyneuropathy

Frank Diaz, Shaweta Khosa, Dmitriy Niyazov,Hane Lee,Richard Person, Michelle M Morrow, Rebecca Signer,Naghmeh Dorrani, Allison Zheng, Matthew Herzog, Robert Freundlich, J Brandon Birath

Annals of clinical and translational neurology, no. 11 (2020): 2320-2325

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Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

Szabolcs Szelinger, Jonida Krate,Keri Ramsey,Samuel P Strom,Perry B Shieh,Hane Lee, Newell Belnap, Chris Balak,Ashley L Siniard, Megan Russell, Ryan Richholt, Matt De Both

NEUROLOGY-GENETICS, no. 4.0 (2020)

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Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

Anna Fliedner, Philipp Kirchner, Antje Wiesener, Irma van de Beek, Quinten Waisfisz, Mieke van Haelst,Daryl A Scott,Seema R Lalani,Jill A Rosenfeld,Mahshid S Azamian,Fan Xia, Marina Dutra-Clarke

AMERICAN JOURNAL OF HUMAN GENETICS, no. 3 (2020): 544-554

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Recurrent respiratory viral diseases and chronic sequelae due to dominant negative IFIH1

Christin L Deal, Timothy J Thauland, Rebecca Signer,Stanley F Nelson, Undiagnosed Diseases Network,Hane Lee,Manish J Butte

biorxiv, (2020)

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Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing

Johanna L Schmidt,Amy Pizzino, Jessica Nicholl, Allison Foley,Yue Wang,Jill A Rosenfeld, Lindsey Mighion,Lora Bean, Cristina da Silva, Megan T Cho,Rebecca Truty, John Garcia

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no. 8.0 (2020): 1906.0-1912

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Disseminated Coccidioidomycosis Treated with Interferon-γ and Dupilumab

Monica Tsai, Timothy J Thauland,Alden Y Huang, Chantana Bun, Sean Fitzwater,Paul Krogstad, Emilie D Douine,Stanley F Nelson,Hane Lee,Maria I Garcia-Lloret, Manish J Butte

NEW ENGLAND JOURNAL OF MEDICINE, no. 24 (2020): 2337-2343

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Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome

Shahram Yazdani, Anish Badjatiya,Naghmeh Dorrani,Hane Lee,Wayne W Grody,Stanley F Nelson,Katrina M Dipple

Molecular Genetics and Metabolism Reports, (2020): 100582

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Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing

Jeremy D. Woods,Negar Khanlou,Hane Lee, Rebecca Signer, Perry Shieh, Johnathan Chen, Matthew Herzog, Christina Palmer,Julian Martinez‐Agosto,Stanley F. Nelson

NEUROPATHOLOGY, no. 3.0 (2020): 302-307

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Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Hane Lee,Alden Y Huang, Lee-Kai Wang, Amanda J Yoon, Genecee Renteria,Ascia Eskin, Rebecca H Signer,Naghmeh Dorrani, Shirley Nieves-Rodriguez, Jijun Wan, Emilie D Douine, Jeremy D Woods

GENETICS IN MEDICINE, no. 3.0 (2020): 490.0-499.0

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GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au,Alden Y Huang, Ana P G Silva,Hane Lee, Emilie D Douine, Maria G Otero, Andrew Choi, Katheryn Grand, Ingrid P Taff

Genetics in medicine : official journal of the American College of Medical Genetics, pp.1-11, (2020)

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VERY YOUNG ONSET AUTOSOMAL DOMINANT ALZHEIMER'S DISEASE WITH SPASTIC PARAPARESIS DUE TO A NOVEL (F388S) PSEN1 MUTATION