Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome
Guemez-Gamboa, Alicia, Nguyen, Long N, Yang, Hongbo, Zaki, Maha S, Kara, Majdi, Ben-Omran, Tawfeg, Akizu, Naiara, Rosti, Rasim Ozgur, Rosti, Basak, Scott, Eric, Schroth, Jana, Copeland, Brett, Vaux, Keith K, Cazenave-Gassiot, Amaury, Quek, Debra Q Y, Wong, Bernice H, Tan, Bryan C, Wenk, Markus R, Gunel, Murat, Gabriel, Stacey, Chi, Neil C, Silver, David L, Gleeson, Joseph G
Published in Nature genetics (01.07.2015)
Published in Nature genetics (01.07.2015)
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Journal Article
Frequency and Complexity of De Novo Structural Mutation in Autism
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., Corsello, Christina, Sebat, Jonathan
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
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The genetic landscape of autism spectrum disorders
Rosti, Rasim O, Sadek, Abdelrahim A, Vaux, Keith K, Gleeson, Joseph G
Published in Developmental medicine and child neurology (01.01.2014)
Published in Developmental medicine and child neurology (01.01.2014)
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Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene
Rosti, Rasim O., Dikoglu, Esra, Zaki, Maha S., Abdel-Salam, Ghada, Makhseed, Nawal, Sese, Jordan C., Musaev, Damir, Rosti, Basak, Harbert, Mary J., Jones, Marilyn C., Vaux, Keith K., Gleeson, Joseph G.
Published in American journal of medical genetics. Part A (01.04.2016)
Published in American journal of medical genetics. Part A (01.04.2016)
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Journal Article
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
Antaki, Danny, Guevara, James, Maihofer, Adam X., Klein, Marieke, Gujral, Madhusudan, Grove, Jakob, Carey, Caitlin E., Hong, Oanh, Arranz, Maria J., Hervas, Amaia, Corsello, Christina, Vaux, Keith K., Muotri, Alysson R., Iakoucheva, Lilia M., Courchesne, Eric, Pierce, Karen, Gleeson, Joseph G., Robinson, Elise B., Nievergelt, Caroline M., Sebat, Jonathan
Published in Nature genetics (01.09.2022)
Published in Nature genetics (01.09.2022)
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Journal Article
Paternally inherited cis-regulatory structural variants are associated with autism
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
Published in Science (American Association for the Advancement of Science) (20.04.2018)
Published in Science (American Association for the Advancement of Science) (20.04.2018)
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Evidence-based recommendations for the diagnosis and treatment of pediatric acne
Eichenfield, Lawrence F, Krakowski, Andrew C, Piggott, Caroline, Del Rosso, James, Baldwin, Hilary, Friedlander, Sheila Fallon, Levy, Moise, Lucky, Anne, Mancini, Anthony J, Orlow, Seth J, Yan, Albert C, Vaux, Keith K, Webster, Guy, Zaenglein, Andrea L, Thiboutot, Diane M
Published in Pediatrics (Evanston) (01.05.2013)
Published in Pediatrics (Evanston) (01.05.2013)
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Journal Article
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Novarino, Gaia, Fenstermaker, Ali G., Zaki, Maha S., Hofree, Matan, Silhavy, Jennifer L., Heiberg, Andrew D., Abdellateef, Mostafa, Rosti, Basak, Scott, Eric, Mansour, Lobna, Masri, Amira, Kayserili, Hulya, Al-Aama, Jumana Y., Abdel-Salam, Ghada M. H., Karminejad, Ariana, Kara, Majdi, Kara, Bulent, Bozorgmehri, Bita, Ben-Omran, Tawfeg, Mojahedi, Faezeh, Mahmoud, Iman Gamal El Din, Bouslam, Naima, Bouhouche, Ahmed, Benomar, Ali, Hanein, Sylvain, Raymond, Laure, Forlani, Sylvie, Mascaro, Massimo, Selim, Laila, Shehata, Nabil, Al-Allawi, Nasir, Bindu, P.S., Azam, Matloob, Gunel, Murat, Caglayan, Ahmet, Bilguvar, Kaya, Tolun, Aslihan, Issa, Mahmoud Y., Schroth, Jana, Spencer, Emily G., Rosti, Rasim O., Akizu, Naiara, Vaux, Keith K., Johansen, Anide, Koh, Alice A., Megahed, Hisham, Durr, Alexandra, Brice, Alexis, Stevanin, Giovanni, Gabriel, Stacy B., Ideker, Trey, Gleeson, Joseph G.
Published in Science (American Association for the Advancement of Science) (31.01.2014)
Published in Science (American Association for the Advancement of Science) (31.01.2014)
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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
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, Altmüller, Janine, Weixler, Lisa, Nürnberg, 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.
Published in American journal of human genetics (06.09.2018)
Published in American journal of human genetics (06.09.2018)
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Journal Article
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations
Revencu, Nicole, Boon, Laurence M, Mulliken, John B, Enjolras, Odile, Cordisco, Maria Rosa, Burrows, Patricia E, Clapuyt, Philippe, Hammer, Frank, Dubois, Josée, Baselga, Eulalia, Brancati, Francesco, Carder, Robin, Quintal, José Miguel Ceballos, Dallapiccola, Bruno, Fischer, Gayle, Frieden, Ilona J, Garzon, Maria, Harper, John, Johnson-Patel, Jennifer, Labrèze, 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, Vikkula, Miikka
Published in Human mutation (01.07.2008)
Published in Human mutation (01.07.2008)
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Journal Article
Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
Antaki, Danny, Guevara, James, Maihofer, Adam X., Klein, Marieke, Gujral, Madhusudan, Grove, Jakob, Carey, Caitlin E., Hong, Oanh, Arranz, Maria J., Hervas, Amaia, Corsello, Christina, Vaux, Keith K., Muotri, Alysson R., Iakoucheva, Lilia M., Courchesne, Eric, Pierce, Karen, Gleeson, Joseph G., Robinson, Elise B., Nievergelt, Caroline M., Sebat, Jonathan
Published in Nature genetics (01.08.2022)
Published in Nature genetics (01.08.2022)
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FOXP1-related intellectual disability syndrome: a recognisable entity
Meerschaut, Ilse, Rochefort, Daniel, Revençu, Nicole, Pètre, Justine, Corsello, Christina, Rouleau, Guy A, Hamdan, Fadi F, Michaud, Jacques L, Morton, Jenny, Radley, Jessica, Ragge, Nicola, García-Miñaúr, Sixto, Lapunzina, Pablo, Bralo, Maria Palomares, Mori, Maria Ángeles, Moortgat, Stéphanie, Benoit, Valérie, Mary, Sandrine, Bockaert, Nele, Oostra, Ann, Vanakker, Olivier, Velinov, Milen, de Ravel, Thomy JL, 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, Björn, Dion, Patrick A, Lederer, Damien, Callewaert, Bert
Published in Journal of medical genetics (01.09.2017)
Published in Journal of medical genetics (01.09.2017)
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Journal Article
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
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, Altmüller, Janine, Weixler, Lisa, Nürnberg, 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
Published in American journal of human genetics (02.12.2021)
Published in American journal of human genetics (02.12.2021)
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Journal Article
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
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, Altmüller, Janine, Nürnberg, 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.
Published in American journal of human genetics (01.11.2018)
Published in American journal of human genetics (01.11.2018)
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Journal Article
Neonatal phenotype in Kabuki syndrome
Vaux, Keith K., Hudgins, Louanne, Bird, Lynne M., Roeder, Elizabeth, Curry, Cynthia J.R., Jones, Marilyn, Jones, Kenneth L.
Published in American journal of medical genetics. Part A (30.01.2005)
Published in American journal of medical genetics. Part A (30.01.2005)
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Journal Article
The safe and effective use of propofol sedation in children undergoing diagnostic and therapeutic procedures: experience in a pediatric ICU and a review of the literature
Wheeler, Derek S, Vaux, Keith K, Ponaman, Michael L, Poss, Bradley W
Published in Pediatric emergency care (01.12.2003)
Published in Pediatric emergency care (01.12.2003)
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Journal Article
Developmental outcome in Kabuki syndrome
Vaux, Keith K., Jones, Kenneth L., Jones, Marilyn C., Schelley, Susan, Hudgins, Louanne
Published in American journal of medical genetics. Part A (30.01.2005)
Published in American journal of medical genetics. Part A (30.01.2005)
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