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W

Wan Hee Yoon

University of Oklahoma Health Sciences Center
H指数:19
被引数:1,527

个人简介

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荣誉奖项

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Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation
BRAIN
IF11.7
2024-01-182
OAAI
Munoz-Oreja, Mikel; Sandoval, Abigail; Bruland, Ove; Perez-Rodriguez, Diego; Fernandez-Pelayo, Uxoa; de Arbina, Amaia Lopez; Villar-Fernandez, Marina; Hernandez-Eguiazu, Haizea; Hernandez, Ixiar; Park, Yohan; Goicoechea, Leire; Pascual-Frias, Nerea; Garcia-Ruiz, Carmen; Fernandez-Checa, Jose; Marti-Carrera, Itxaso; Gil-Bea, Francisco Javier; Hasan, Mazahir T.; Gegg, Matthew E.; Bredrup, Cecilie; Knappskog, Per-Morten; Gerenu-Lopetegui, Gorka; Varhaug, Kristin N.; Bindoff, Laurence A.; Spinazzola, Antonella; Yoon, Wan Hee; Holt, Ian J.
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities
GENETICS IN MEDICINE
IF6.2
2023-02-016
OAAI
Whittle, Ella F.; Chilian, Madison; Karimiani, Ehsan Ghayoor; Progri, Helga; Buhas, Daniela; Kose, Melis; Ganetzky, Rebecca D.; Toosi, Mehran Beiraghi; Torbati, Paria Najarzadeh; Badv, Reza Shervin; Shelihan, Ivan; Yang, Hui; Elloumi, Houda Zghal; Lee, Sukyeong; Jamshidi, Yalda; Pittman, Alan M.; Houlden, Henry; Ignatius, Erika; Rahman, Shamima; Maroofian, Reza; Yoon, Wan Hee; Carrol, Christopher J.
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-12-0115
OAAI
Yap, Zheng Yie; Efthymiou, Stephanie; Seiffert, Simone; Parra, Karen Vargas; Lee, Sukyeong; Nasca, Alessia; Maroofian, Reza; Schrauwen, Isabelle; Pendziwiat, Manuela; Jung, Sunhee; Bhoj, Elizabeth; Striano, Pasquale; Mankad, Kshitij; Vona, Barbara; Cuddapah, Sanmati; Wagner, Anja; Alvi, Javeria Raza; Davoudi-Dehaghani, Elham; Fallah, Mohammad-Sadegh; Gannavarapu, Srinitya; Lamperti, Costanza; Legati, Andrea; Murtaza, Bibi Nazia; Nadeem, Muhammad Shahid; Rehman, Mujaddad Ur; Saeidi, Kolsoum; Salpietro, Vincenzo; von Spiczak, Sarah; Sandoval, Abigail; Zeinali, Sirous; Zeviani, Massimo; Reich, Adi; Jang, Cholsoon; Helbig, Ingo; Barakat, Tahsin Stefan; Ghezzi, Daniele; Leal, Suzanne M.; Weber, Yvonne; Houlden, Henry; Yoon, Wan Hee
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

神经线粒体表型中ATAD3A变异体的功能解释

GENOME MEDICINE
IF11.2
2021-04-1218
OAAI
Yap, Zheng Yie; Park, Yo Han; Wortmann, Saskia B.; Gunning, Adam C.; Ezer, Shlomit; Lee, Sukyeong; Duraine, Lita; Wilichowski, Ekkehard; Wilson, Kate; Mayr, Johannes A.; Wagner, Matias; Li, Hong; Kini, Usha; Black, Emily Davis; Monaghan, Kristin G.; Lupski, James R.; Ellard, Sian; Westphal, Dominik S.; Harel, Tamar; Yoon, Wan Hee
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2020-02-0137
OAAI
Gunning, Adam C.; Strucinska, Klaudia; Munoz Oreja, Mikel; Parrish, Andrew; Caswell, Richard; Stals, Karen L.; Durigon, Romina; Durlacher-Betzer, Karina; Cunningham, Mitchell H.; Grochowski, Christopher M.; Baptista, Julia; Tysoe, Carolyn; Baple, Emma; Lahiri, Nayana; Homfray, Tessa; Scurr, Ingrid; Armstrong, Catherine; Dean, John; Fernandez Pelayo, Uxoa; Jones, Aleck W. E.; Taylor, Robert W.; Misra, Vinod K.; Yoon, Wan Hee; Wright, Caroline F.; Lupski, James R.; Spinazzola, Antonella; Harel, Tamar; Holt, Ian J.; Ellard, Sian
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2018-03-0164
OAAI
Olahova, Monika; Yoon, Wan Hee; Thompson, Kyle; Jangam, Sharayu; Fernandez, Liliana; Davidson, Jean M.; Kyle, Jennifer E.; Grove, Megan E.; Fisk, Dianna G.; Kohler, Jennefer N.; Holmes, Matthew; Dries, Annika M.; Huang, Yong; Zhao, Chunli; Contrepois, Kevin; Zappala, Zachary; Fresard, Laure; Waggott, Daryl; Zink, Erika M.; Kim, Young-Mo; Heyman, Heino M.; Stratton, Kelly G.; Webb-Robertson, Bobbie-Jo M.; Snyder, Michael; Merker, Jason D.; Montgomery, Stephen B.; Fisher, Paul G.; Feichtinger, Rene G.; Mayr, Johannes A.; Hall, Julie; Barbosa, Ines A.; Simpson, Michael A.; Deshpande, Charu; Waters, Katrina M.; Koeller, David M.; Metz, Thomas O.; Morris, Andrew A.; Schelley, Susan; Cowan, Tina; Friederich, Marisa W.; McFarland, Robert; Van Hove, Johan L. K.; Enns, Gregory M.; Yamamoto, Shinya; Ashley, Euan A.; Wangler, Michael F.; Taylor, Robert W.; Bellen, Hugo J.; Bernstein, Jonathan A.; Wheeler, Matthew T.
Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration
NEURON
IF15
2017-01-0189
OAAI
Yoon, Wan Hee; Sandoval, Hector; Nagarkar-Jaiswal, Sonal; Jaiswal, Manish; Yamamoto, Shinya; Haelterman, Nele A.; Putluri, Nagireddy; Putluri, Vasanta; Sreekumar, Arun; Tos, Tulay; Aksoy, Ayse; Donti, Taraka; Graham, Brett H.; Ohno, Mikiko; Nishi, Eiichiro; Hunter, Jill; Muzny, Donna M.; Carmichael, Jason; Shen, Joseph; Arboleda, Valerie A.; Nelson, Stanley F.; Wangler, Michael F.; Karaca, Ender; Lupski, James R.; Bellen, Hugo J.
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2016-10-01139
OAAI
Harel, Tamar; Yoon, Wan Hee; Garone, Caterina; Gu, Shen; Coban-Akdemir, Zeynep; Eldomery, Mohammad K.; Posey, Jennifer E.; Jhangiani, Shalini N.; Rosenfeld, Jill A.; Cho, Megan T.; Fox, Stephanie; Withers, Marjorie; Brooks, Stephanie M.; Chiang, Theodore; Duraine, Lita; Erdin, Serkan; Yuan, Bo; Shao, Yunru; Moussallem, Elie; Lamperti, Costanza; Donati, Maria A.; Smith, Joshua D.; McLaughlin, Heather M.; Eng, Christine M.; Walkiewicz, Magdalena; Xia, Fan; Pippucci, Tommaso; Magini, Pamela; Seri, Marco; Zeviani, Massimo; Hirano, Michio; Hunter, Jill V.; Srour, Myriam; Zanigni, Stefano; Lewis, Richard Alan; Muzny, Donna M.; Lotze, Timothy E.; Boerwinkle, Eric; Gibbs, Richard A.; Hickey, Scott E.; Graham, Brett H.; Yang, Yaping; Buhas, Daniela; Martin, Donna M.; Potocki, Lorraine; Graziano, Claudio; Bellen, Hugo J.; Lupski, James R.

研究方向

暂未获取到该数据
H
Hugo J. Bellen
H 指数:117论文数:612被引数:4.7万
J
James R. Lupski
H 指数:144论文数:1,090被引数:8.7万
H
Henry Houlden
H 指数:120论文数:1,507被引数:6.4万
I
Ian Holt
H 指数:66论文数:371被引数:1.4万
M
Massimo Zeviani
H 指数:116论文数:757被引数:5.1万
C
Costanza Lamperti
H 指数:46论文数:165被引数:7,469
S
Shinya Yamamoto
H 指数:51论文数:249被引数:9,191
N
Nele A Haelterman
H 指数:12论文数:42被引数:1,818
B
Brett H. Graham
H 指数:55论文数:184被引数:1.1万
A
Antonella Spinazzola
H 指数:39论文数:100被引数:6,068