Christoph Seiler

seoul national university (snu)

H指数:21

被引数:2,122

个人简介

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教育背景

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工作经历

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荣誉奖项

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dldhcri3 zebrafish exhibit altered mitochondrial ultrastructure, morphology, and dysfunction partially rescued by probucol or thiamine

JCI INSIGHT

IF6.1

2024-08-200

Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder

HUMAN GENETICS

IF3.6

2024-03-232

PRE

Genomic profiling informs diagnoses and treatment in vascular anomalies

NATURE MEDICINE

IF50

2023-06-0117

Li, Dong; Sheppard, Sarah E.; March, Michael E.; Battig, Mark R.; Surrey, Lea F.; Srinivasan, Abhay S.; Matsuoka, Leticia S.; Tian, Lifeng; Wang, Fengxiang; Seiler, Christoph; Dayneka, Jill; Borst, Alexandra J.; Matos, Mary C.; Paulissen, Scott M.; Krishnamurthy, Ganesh; Nriagu, Bede; Sikder, Tamjeed; Casey, Melissa; Williams, Lydia; Rangu, Sneha; O'Connor, Nora; Thomas, Alexandria; Pinto, Erin; Hou, Cuiping; Nguyen, Kenny; Pellegrino da Silva, Renata; Chehimi, Samar N.; Kao, Charlly; Biroc, Lauren; Britt, Allison D.; Queenan, Maria; Reid, Janet R.; Napoli, Joseph A.; Low, David M.; Vatsky, Seth; Treat, James; Smith, Christopher L.; Cahill, Anne Marie; Snyder, Kristen M.; Adams, Denise M.; Dori, Yoav; Hakonarson, Hakon

Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

JCI INSIGHT

IF6.1

2023-05-0818

Sheppard, Sarah E.; March, Michael E.; Seiler, Christoph; Matsuoka, Leticia S.; Kim, Sophia E.; Kao, Charlly; Rubin, Adam I.; Battig, Mark R.; Khalek, Nahla; Schindewolf, Erica; O'Connor, Nora; Pinto, Erin; Priestley, Jessica R. C.; Sanders, Victoria R.; Niazi, Rojeen; Ganguly, Arupa; Hou, Cuiping; Slater, Diana; Frieden, Ilona J.; Huynh, Thy; Shieh, Joseph T.; Krantz, Ian D.; Guerrero, Jessenia C.; Surrey, Lea F.; Biko, David M.; Laje, Pablo; Castelo-Soccio, Leslie; Nakano, Taizo A.; Snyder, Kristen; Smith, Christopher L.; Li, Dong; Dori, Yoav; Hakonarson, Hakon

N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1-/- zebrafish deletion models of Leigh syndrome

HUMAN MOLECULAR GENETICS

IF3.2

2023-02-165

Dichloroacetate improves mitochondrial function, physiology, and morphology in FBXL4 disease models

JCI INSIGHT

IF6.1

2022-08-228

The FusX TALE Base Editor (FusXTBE) for Rapid Mitochondrial DNA Programming of Human Cells In Vitro and Zebrafish Disease Models In Vivo

CRISPR JOURNAL

IF4

2021-11-0129

PRE

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

HUMAN GENETICS

IF3.6

2021-04-037

Li, Dong; March, Michael E.; Fortugno, Paola; Cox, Liza L.; Matsuoka, Leticia S.; Monetta, Rosanna; Seiler, Christoph; Pyle, Louise C.; Bedoukian, Emma C.; Jose Sanchez-Soler, Maria; Caluseriu, Oana; Grand, Katheryn; Tam, Allison; Aycinena, Alicia R. P.; Camerota, Letizia; Guo, Yiran; Sleiman, Patrick; Callewaert, Bert; Kumps, Candy; Dheedene, Annelies; Buckley, Michael; Kirk, Edwin P.; Turner, Anne; Kamien, Benjamin; Patel, Chirag; Wilson, Meredith; Roscioli, Tony; Christodoulou, John; Cox, Timothy C.; Zackai, Elaine H.; Brancati, Francesco; Hakonarson, Hakon; Bhoj, Elizabeth J.

Combinatorial glucose, nicotinic acid and N-acetylcysteine therapy has synergistic effect in preclinical C. elegans and zebrafish models of mitochondrial complex I disease

HUMAN MOLECULAR GENETICS

IF3.2

2021-02-2710

OAAI

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-11-0113

OAAI

Fiordaliso, Sarah K.; Iwata-Otsubo, Aiko; Ritter, Alyssa L.; Quesnel-Vallieres, Mathieu; Fujiki, Katsunori; Nishi, Eriko; Hancarova, Miroslava; Miyake, Noriko; Morton, Jenny E. V.; Lee, Sangmoon; Hackmann, Karl; Bando, Masashige; Masuda, Koji; Nakato, Ryuichiro; Arakawa, Michiko; Bhoj, Elizabeth; Li, Dong; Hakonarson, Hakon; Takeda, Ryojun; Harr, Margaret; Keena, Beth; Zackai, Elaine H.; Okamoto, Nobuhiko; Mizuno, Seiji; Ko, Jung Min; Valachova, Alica; Prchalova, Darina; Vlckova, Marketa; Pippucci, Tommaso; Seiler, Christoph; Choi, Murim; Matsumoto, Naomichi; Di Donato, Nataliya; Barash, Yoseph; Sedlacek, Zdenek; Shirahige, Katsuhiko; Izumi, Kosuke

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor

NATURE MEDICINE

IF50

2019-07-01144

PREAI

Li, Dong; March, Michael E.; Gutierrez-Uzquiza, Alvaro; Kao, Charlly; Seiler, Christoph; Pinto, Erin; Matsuoka, Leticia S.; Battig, Mark R.; Bhoj, Elizabeth J.; Wenger, Tara L.; Tian, Lifeng; Robinson, Nora; Wang, Tiancheng; Liu, Yichuan; Weinstein, Brant M.; Swift, Matthew; Jung, Hyun Min; Kaminski, Courtney N.; Chiavacci, Rosetta; Perkins, Jonathan A.; Levine, Michael A.; Sleiman, Patrick M. A.; Hicks, Patricia J.; Strausbaugh, Janet T.; Belasco, Jean B.; Dori, Yoav; Hakonarson, Hakon

Pre-clinical evaluation of cysteamine bitartrate as a therapeutic agent for mitochondrial respiratory chain disease

半胱胺酒石酸盐作为线粒体呼吸链疾病治疗剂的临床前评估

HUMAN MOLECULAR GENETICS

IF3.2

2019-01-2222

OAAI

Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish

NEUROCHEMISTRY INTERNATIONAL

IF4

2018-07-0150

OAAI

Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly