Keith K. Vaux

University of California San Diego

H指数:24

被引数:4,005

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

The impact of clinical genome sequencing in a global population with suspected rare genetic disease

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-07-015

OAAI

Thorpe, Erin; Williams, Taylor; Shaw, Chad; Chekalin, Evgenii; Ortega, Julia; Robinson, Keisha; Button, Jason; Jones, Marilyn C.; del Campo, Miguel; Basel, Donald; McCarrier, Julie; Keppen, Laura Davis; Royer, Erin; Foster-Bonds, Romina; Duenas-Roque, Milagros M.; Urraca, Nora; Bosfield, Kerri; Brown, Chester W.; Lydigsen, Holly; Mroczkowski, Henry J.; Ward, Jewell; Sirchia, Fabio; Giorgio, Elisa; Vaux, Keith; Salguero, Hildegard Pena; Lumaka, Aime; Mubungu, Gerrye; Makay, Prince; Ngole, Mamy; Lukusa, Prosper Tshilobo; Vanderver, Adeline; Muirhead, Kayla; Sherbini, Omar; Lah, Melissa D.; Anderson, Katelynn; Bazalar-Montoya, Jeny; Rodriguez, Richard S.; Cornejo-Olivas, Mario; Milla-Neyra, Karina; Shinawi, Marwan; Magoulas, Pilar; Henry, Duncan; Gibson, Kate; Wiafe, Samuel; Jayakar, Parul; Salyakina, Daria; Masser-Frye, Diane; Serize, Arturo; Perez, Jorge E.; Taylor, Alan; Shenbagam, Shruti; Abou Tayoun, Ahmad; Malhotra, Alka; Bennett, Maren; Rajan, Vani; Avecilla, James; Warren, Andrew; Arseneault, Max; Kalista, Tasha; Crawford, Ali; Ajay, Subramanian S.; Perry, Denise L.; Belmont, John; Taft, Ryan J.

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex (Jun, 10.1038/s41588-022-01064-5, 2022)

NATURE GENETICS

IF31.8

2022-06-292

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

NATURE GENETICS

IF31.8

2022-06-0281

OAAI

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (vol 103, pg 431, 2018)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2021-12-011

OAAI

Ghosh, Shereen G.; Becker, Kerstin; Huang, He; Salazar, Tracy D.; Chai, Guoliang; Salpietro, Vincenzo; Al-Gazali, Lihadh; Waisfisz, Quinten; Wang, Haicui; Vaux, Keith K.; Stanley, Valentina; Manole, Andreea; Akpulat, Ugur; Weiss, Marjan M.; Efthymiou, Stephanie; Hanna, Michael G.; Minetti, Carlo; Striano, Pasquale; Pisciotta, Livia; De Grandis, Elisa; Altmuller, Janine; Weixler, Lisa; Nurnberg, Peter; Thiele, Holger; Yis, Uluc; Okur, Tuncay Derya; Polat, Ayse Ipek; Amiri, Nafise; Doosti, Mohammad; Karimani, Ehsan Ghayoor; Toosi, Mehran B.; Haddad, Gabriel; Karakaya, Mert; Wirth, Brunhilde; van Hagen, Johanna M.; Wolf, Nicole I.; Maroofian, Reza; Houlden, Henry; Cirak, Sebahattin; Gleeson, Joseph G.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (vol 103, pg 431, 2018)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2018-11-018

OAAI

Ghosh, Shereen G.; Becker, Kerstin; Huang, He; Dixon-Salazar, Tracy; Chai, Guoliang; Salpietro, Vincenzo; Al-Gazali, Lihadh; Waisfisz, Quinten; Wang, Haicui; Vaux, Keith K.; Stanley, Valentina; Manole, Andreea; Akpulat, Ugur; Weiss, Marjan M.; Efthymiou, Stephanie; Hanna, Michael G.; Minetti, Carlo; Striano, Pasquale; Pisciotta, Livia; De Grandis, Elisa; Altmueller, Janine; Nuernberg, Peter; Thiele, Holger; Yis, Uluc; Okur, Tuncay Derya; Polat, Ayse Ipek; Amiri, Nafise; Doosti, Mohammad; Karimani, Ehsan Ghayoor; Toosi, Mehran B.; Haddad, Gabriel; Karakaya, Mert; Wirth, Brunhilde; van Hagen, Johanna M.; Wolf, Nicole I.; Maroofian, Reza; Houlden, Henry; Cirak, Sebahattin; Gleeson, Joseph G.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2018-09-0173

OAAI

Ghosh, Shereen G.; Becker, Kerstin; Huang, He; Salazar, Tracy D.; Chai, Guoliang; Salpietro, Vincenzo; Al-Gazali, Lihadh; Waisfisz, Quinten; Wang, Haicui; Vaux, Keith K.; Stanley, Valentina; Manole, Andreea; Akpulat, Ugur; Weiss, Marjan M.; Efthymiou, Stephanie; Hanna, Michael G.; Minetti, Carlo; Striano, Pasquale; Pisciotta, Livia; De Grandis, Elisa; Altmueller, Janine; Nuernberg, Peter; Thiele, Holger; Yis, Uluc; Okur, Tuncay Derya; Polat, Ayse Ipek; Amiri, Nafise; Doosti, Mohammad; Karimani, Ehsan Ghayoor; Toosi, Mehran B.; Haddad, Gabriel; Karakaya, Mert; Wirth, Brunhilde; van Hagen, Johanna M.; Wolf, Nicole I.; Maroofian, Reza; Houlden, Henry; Cirak, Sebahattin; Gleeson, Joseph G.

Paternally inherited cis-regulatory structural variants are associated with autism

SCIENCE

IF45.8

2018-04-20152

OAAI

Brandler, William M.; Antaki, Danny; Gujral, Madhusudan; Kleiber, Morgan L.; Whitney, Joe; Maile, Michelle S.; Hong, Oanh; Chapman, Timothy R.; Tan, Shirley; Tandon, Prateek; Pang, Timothy; Tang, Shih C.; Vaux, Keith K.; Yang, Yan; Harrington, Eoghan; Juul, Sissel; Turner, Daniel J.; Thiruvahindrapuram, Bhooma; Kaur, Gaganjot; Wang, Zhuozhi; Kingsmore, Stephen F.; Gleeson, Joseph G.; Bisson, Denis; Kakaradov, Boyko; Telenti, Amalio; Venter, J. Craig; Corominas, Roser; Toma, Claudio; Cormand, Bru; Rueda, Isabel; Guijarro, Silvina; Messer, Karen S.; Nievergelt, Caroline M.; Arranz, Maria J.; Courchesne, Eric; Pierce, Karen; Muotri, Alysson R.; Iakoucheva, Lilia M.; Hervas, Amaia; Scherer, Stephen W.; Corsello, Christina; Sebat, Jonathan

Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

IF55

2018-02-06563

OAAI

May, Philip A.; Chambers, Christina D.; Kalberg, Wendy O.; Zellner, Jennifer; Feldman, Haruna; Buckley, David; Kopald, David; Hasken, Julie M.; Xu, Ronghui; Honerkamp-Smith, Gordon; Taras, Howard; Manning, Melanie A.; Robinson, Luther K.; Adam, Margaret P.; Abdul-Rahman, Omar; Vaux, Keith; Jewett, Tamison; Elliott, Amy J.; Kable, Julie A.; Akshoomoff, Natacha; Falk, Daniel; Arroyo, Judith A.; Hereld, Dale; Riley, Edward P.; Charness, Michael E.; Coles, Claire D.; Warren, Kenneth R.; Jones, Kenneth Lyons; Hoyme, H. Eugene

JOURNAL OF MEDICAL GENETICS

IF3.7

2017-07-2258

OAAI

Meerschaut, Ilse; Rochefort, Daniel; Revencu, Nicole; Petre, Justine; Corsello, Christina; Rouleau, Guy A.; Hamdan, Fadi F.; Michaud, Jacques L.; Morton, Jenny; Radley, Jessica; Ragge, Nicola; Garcia-Minaur, Sixto; Lapunzina, Pablo; Bralo, Maria Palomares; Mori, Maria Angeles; Moortgat, Stephanie; Benoit, Valerie; Mary, Sandrine; Bockaert, Nele; Oostra, Ann; Vanakker, Olivier; Velinov, Milen; de Ravel, Thomy J. L.; Mekahli, Djalila; Sebat, Jonathan; Vaux, Keith K.; DiDonato, Nataliya; Hanson-Kahn, Andrea K.; Hudgins, Louanne; Dallapiccola, Bruno; Novelli, Antonio; Tarani, Luigi; Andrieux, Joris; Parker, Michael J.; Neas, Katherine; Ceulemans, Berten; Schoonjans, An-Sofie; Prchalova, Darina; Havlovicova, Marketa; Hancarova, Miroslava; Budisteanu, Magdalena; Dheedene, Annelies; Menten, Bjorn; Dion, Patrick A.; Lederer, Damien; Callewaert, Bert

Frequency and Complexity of De Novo Structural Mutation in Autism

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2016-04-0179

OAAI

Brandler, William M.; Antaki, Danny; Gujral, Madhusudan; Noor, Amina; Rosanio, Gabriel; Chapman, Timothy R.; Barrera, Daniel J.; Lin, Guan Ning; Malhotra, Dheeraj; Watts, Amanda C.; Wong, Lawrence C.; Estabillo, Jasper A.; Gadomski, Therese E.; Hong, Oanh; Fajardo, Karin V. Fuentes; Bhandari, Abhishek; Owen, Renius; Baughn, Michael; Yuan, Jeffrey; Solomon, Terry; Moyzis, Alexandra G.; Maile, Michelle S.; Sanders, Stephan J.; Reiner, Gail E.; Vaux, Keith K.; Strom, Charles M.; Zhang, Kang; Muotri, Alysson R.; Akshoomoff, Natacha; Leal, Suzanne M.; Pierce, Karen; Courchesne, Eric; Iakoucheva, Lilia M.; Corse, Christina; Sebat, Jonathan

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

ELIFE

IF0

2015-05-3071

OAAI

Roosing, Susanne; Hofree, Matan; Kim, Sehyun; Scott, Eric; Copeland, Brett; Romani, Marta; Silhavy, Jennifer L.; Rosti, Rasim O.; Schroth, Jana; Mazza, Tommaso; Miccinilli, Elide; Zaki, Maha S.; Swoboda, Kathryn J.; Milisa-Drautz, Joanne; Dobyns, William B.; Mikati, Mohamed A.; Incecik, Faruk; Azam, Matloob; Borgatti, Renato; Romaniello, Romina; Boustany, Rose-Mary; Clericuzio, Carol L.; D'Arrigo, Stefano; Stromme, Petter; Boltshauser, Eugen; Stanzial, Franco; Mirabelli-Badenier, Marisol; Moroni, Isabella; Bertini, Enrico; Emma, Francesco; Steinlin, Maja; Hildebrandt, Friedhelm; Johnson, Colin A.; Freilinger, Michael; Vaux, Keith K.; Gabriel, Stacey B.; Aza-Blanc, Pedro; Heynen-Genel, Susanne; Ideker, Trey; Dynlacht, Brian D.; Lee, Ji Eun; Valente, Enza Maria; Kim, Joon; Gleeson, Joseph G.

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

NATURE GENETICS

IF31.8

2015-05-25192

OAAI

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

NATURE GENETICS

IF31.8

2015-04-06101

OAAI

Akizu, Naiara; Cantagrel, Vincent; Zaki, Maha S.; Al-Gazali, Lihadh; Wang, Xin; Rosti, Rasim Ozgur; Dikoglu, Esra; Gelot, Antoinette Bernabe; Rosti, Basak; Vaux, Keith K.; Scott, Eric M.; Silhavy, Jennifer L.; Schroth, Jana; Copeland, Brett; Schaffer, Ashleigh E.; Gordts, Philip L. S. M.; Esko, Jeffrey D.; Buschman, Matthew D.; Field, Seth J.; Napolitano, Gennaro; Abdel-Salam, Ghada M.; Ozgul, R. Koksal; Sagiroglu, Mahmut Samil; Azam, Matloob; Ismail, Samira; Aglan, Mona; Selim, Laila; Mahmoud, Iman G.; Abdel-Hadi, Sawsan; El Badawy, Amera; Sadek, Abdelrahim A.; Mojahedi, Faezeh; Kayserili, Hulya; Masri, Amira; Bastaki, Laila; Temtamy, Samia; Mueller, Ulrich; Desguerre, Isabelle; Casanova, Jean-Laurent; Dursun, Ali; Gunel, Murat; Gabriel, Stacey B.; de Lonlay, Pascale; Gleeson, Joseph G.

The genetic landscape of autism spectrum disorders

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

IF4.3

2013-10-0189

PREAI

Evidence-Based Recommendations for the Diagnosis and Treatment of Pediatric Acne

PEDIATRICS

IF6.4

2013-05-01171

OAAI

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

Parkes Weber综合征，Galen动脉瘤样畸形的静脉和其他快速流动的血管异常是由RASA1突变引起的

HUMAN MUTATION

IF3.7

2008-01-01311

OAAI

Revencu, Nicole; Boon, Laurence M.; Mulliken, John B.; Eniolras, Odile; Cordisco, Maria Rosa; Burrows, Patricia E.; Clapuyt, Philippe; Hammer, Frank; Dubois, Josee; Baselga, Eulalia; Brancati, Francesco; Carder, Robin; Quintal, Jose Miguel Ceballos; Dallapiccola, Bruno; Fischer, Gayle; Frieden, Ilona J.; Garzon, Maria; Harper, John; Johnson-Patel, Jennifer; Labreze, Christine; Martorell, Loreto; Paltiel, Harriet J.; Pohl, Annette; Prendiville, Julie; Quere, Isabelle; Siegel, Dawn H.; Valente, Enza Maria; Van Hagen, Annet; Van Hest, Liselot; Vaux, Keith K.; Vicente, Asuncion; Weibel, Lisa; Chitayat, David; Vikkulal, Miikka

Use of gabapentin in the treatment of childhood reflex sympathetic dystrophy

PEDIATRIC NEUROLOGY

IF2.1

2000-03-0137

PREAI

Keith K. Vaux

个人简介

教育背景

工作经历

荣誉奖项

研究方向