Jason R. Willer

Duke University

H指数:26

被引数:3,552

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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An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants

JCI INSIGHT

IF6.1

2024-08-010

Fellmann, Florence; Saunders, Carol; O'Donohue, Marie-Francoise; Reid, David W.; Mcfadden, Kelsey A.; Montel-Lehry, Nathalie; Yu, Cong; Fang, Mingyan; Zhang, Jianguo; Royer-Bertrand, Beryl; Farinelli, Pietro; Karboul, Narjesse; Willer, Jason R.; Fievet, Lorraine; Bhuiyan, Zahurul Alam; Kleinhenz, Alissa L. W.; Jadeau, Julie; Fulbright, Joy; Rivolta, Carlo; Renella, Raffaele; Katsanis, Nicholas; Beckmann, Jacques S.; V. Nicchitta, Christopher; Da Costa, Lydie; Davis, Erica E.; Gleizes, Pierre-Emmanuel

The tectonic complex regulates membrane protein composition in the photoreceptor cilium

NATURE COMMUNICATIONS

IF15.7

2023-09-132

OAAI

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2023-04-171

OAAI

Nuzhat, Nafisa; Van Schil, Kristof; Liakopoulos, Sandra; Bauwens, Miriam; Rey, Alfredo Duenas; Kaeseberg, Stephan; Jaeger, Melanie; Willer, Jason R.; Winter, Jennifer; Truong, Hanh M.; Gruartmoner, Nuria; Van Heetvelde, Mattias; Wolf, Joachim; Merget, Robert; Grasshoff-Derr, Sabine; Van Dorpe, Jo; Hoorens, Anne; Stoehr, Heidi; Mansard, Luke; Roux, Anne-Francoise; Langmann, Thomas; Dannhausen, Katharina; Rosenkranz, David; Wissing, Karl M.; Van Lint, Michel; Rossmann, Heidi; Haeuser, Friederike; Nuernberg, Peter; Thiele, Holger; Zechner, Ulrich; Pearring, Jillian N.; De Baere, Elfride; Bolz, Hanno J.

Disrupting the ciliary gradient of active Arl3 affects rod photoreceptor nuclear migration

ELIFE

IF0

2023-01-044

Genetic variation across the human olfactory receptor repertoire alters odor perception

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2019-04-30115

OAAI

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

HUMAN GENOMICS

IF4.3

2019-04-1638

OAAI

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

16号染色体的部分单亲同二体揭示了IFT140中导致mainze-saldino综合征的有害双等位基因突变

HUMAN GENOMICS

IF4.3

2017-07-1923

OAAI

Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2017-04-0130

OAAI

Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2017-03-1014

OAAI

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

NATURE GENETICS

IF31.8

2017-01-09112

OAAI

Shaw, Natalie D.; Brand, Harrison; Kupchinsky, Zachary A.; Bengani, Hemant; Plummer, Lacey; Jones, Takako I.; Erdin, Serkan; Williamson, Kathleen A.; Rainger, Joe; Stortchevoi, Alexei; Samocha, Kaitlin; Curra, Benjamin B.; Dunican, Donncha S.; Collins, Ryan L.; Willer, Jason R.; Lek, Angela; Lek, Monkol; Nassan, Malik; Pereira, Shahrin; Kammin, Tammy; Lucente, Diane; Silva, Alexandra; Seabra, Catarina M.; Chiang, Colby; Ana, Yu; Ansari, Morad; Rainger, Jacqueline K.; Joss, Shelagh; Smith, Jill Clayton; Lippincott, Margaret F.; Singh, Sylvia S.; Patel, Nirav; Jing, Jenny W.; Law, Jennifer R.; Ferraro, Nalton; Verloes, Main; Rauch, Anita; Steindl, Katharina; Zweier, Markus; Scheer, Ianina; Sato, Daisuke; Okamoto, Nobuhiko; Jacobsen, Christina; Tryggestad, Jeanie; Chernausek, Steven; Schimmenti, Lisa A.; Brasseur, Benjamin; Cesaretti, Claudia; Garcia-Ortiz, Jose E.; Pineda Buitrago, Tatiana; Perez Silva, Orlando; Hoffman, Jodi D.; Muehlbauer, Wolfgang; Ruprecht, Klaus W.; Loeys, Bart L.; Shino, Masato; Kaind, Angela M.; Cho, Chie-Hee; Morton, Cynthia C.; Meehan, Richard R.; van Heyningen, Veronica; Liao, Eric C.; Balasubramanian, Ravikumar; Hall, Janet E.; Seminara, Stephanie B.; Macarthur, Daniel; Moore, Steven A.; Yoshiura, Koh-ichiro; Gusella, James F.; Marsh, Joseph A.; Graham, John M., Jr.; Lin, Angela E.; Katsanis, Nicholas; Jones, Peter L.; Crowley, William F., Jr.; Davis, Erica E.; FitzPatrick, David R.; Talkowski, Michael E.

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2016-08-01117

OAAI

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

NATURE COMMUNICATIONS

IF15.7

2016-05-13200

OAAI

Boldt, Karsten; van Reeuwijk, Jeroen; Lu, Qianhao; Koutroumpas, Konstantinos; Nguyen, Thanh-Minh T.; Texier, Yves; van Beersum, Sylvia E. C.; Horn, Nicola; Willer, Jason R.; Mans, Dorus A.; Dougherty, Gerard; Lamers, Ideke J. C.; Coene, Karlien L. M.; Arts, Heleen H.; Betts, Matthew J.; Beyer, Tina; Bolat, Emine; Gloeckner, Christian Johannes; Haidari, Khatera; Hetterschijt, Lisette; Iaconis, Daniela; Jenkins, Dagan; Klose, Franziska; Knapp, Barbara; Latour, Brooke; Letteboer, Stef J. F.; Marcelis, Carlo L.; Mitic, Dragana; Morleo, Manuela; Oud, Machteld M.; Riemersma, Moniek; Rix, Susan; Terhal, Paulien A.; Toedt, Grischa; van Dam, Teunis J. P.; de Vrieze, Erik; Wissinger, Yasmin; Wu, Ka Man; Apic, Gordana; Beales, Philip L.; Blacque, Oliver E.; Gibson, Toby J.; Huynen, Martijn A.; Katsanis, Nicholas; Kremer, Hannie; Omran, Heymut; van Wijk, Erwin; Wolfrum, Uwe; Kepes, Francois; Davis, Erica E.; Franco, Brunella; Giles, Rachel H.; Ueffing, Marius; Russell, Robert B.; Roepman, Ronald

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2015-12-0170

OAAI

Burrage, Lindsay C.; Charng, Wu-Lin; Eldomery, Mohammad K.; Willer, Jason R.; Davis, Erica E.; Lugtenberg, Dorien; Zhu, Wenmiao; Leduc, Magalie S.; Akdemir, Zeynep C.; Azamian, Mahshid; Zapata, Gladys; Hernandez, Patricia P.; Schoots, Jeroen; de Munnik, Sonja A.; Roepman, Ronald; Pearring, Jillian N.; Jhangiani, Shalini; Katsanis, Nicholas; Vissers, Lisenka E. L. M.; Brunner, Han G.; Beaudet, Arthur L.; Rosenfeld, Jill A.; Muzny, Donna M.; Gibbs, Richard A.; Eng, Christine M.; Xia, Fan; Lalani, Seema R.; Lupski, James R.; Bongers, Ernie M. H. F.; Yang, Yaping

Transient laminin beta 1a Induction Defines the Wound Epidermis during Zebrafish Fin Regeneration

PLOS GENETICS

IF3.7

2015-08-2538

OAAI

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

CELL REPORTS

IF6.9

2015-08-01208

OAAI

Gonzaga-Jauregui, Claudia; Harel, Tamar; Gambin, Tomasz; Kousi, Maria; Griffin, Laurie B.; Francescatto, Ludmila; Ozes, Burcak; Karaca, Ender; Jhangiani, Shalini N.; Bainbridge, Matthew N.; Lawson, Kim S.; Pehlivan, Davut; Okamoto, Yuji; Withers, Marjorie; Mancias, Pedro; Slavotinek, Anne; Reitnauer, Pamela J.; Goksungur, Meryem T.; Shy, Michael; Crawford, Thomas O.; Koenig, Michel; Willer, Jason; Flores, Brittany N.; Pediaditrakis, Igor; Us, Onder; Wiszniewski, Wojciech; Parman, Yesim; Antonellis, Anthony; Muzny, Donna M.; Katsanis, Nicholas; Battaloglu, Esra; Boerwinkle, Eric; Gibbs, Richard A.; Lupski, James R.

Epigenetic control of intestinal barrier function and inflammation in zebrafish

斑马鱼肠道屏障功能和炎症的表观遗传调控

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2015-02-17158

OAAI

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

孤立性GnRH缺乏症患者的CHD7等位基因功能受损

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2014-12-0360

OAAI