Doctors Page – Health Nucleus

Selected Publications

N. Revencu, L.M. Boon, J.B. Mulliken, O. Enjolras, M.R. Cordisco, P.E. Burrows, P.H. Clapuyt, F. Hammer, J. Dubois, E. Baselga, F.Brancati, B. Dallapiccola, R. Carder, G. Fischer, I. Frieden, J Harper, P. Gritters, J Johnson Patel, C. Labreze, L. Martorell, H. J. Paltiel, A. Pohl, J. Prendiville, I. Quere, D.H. Siegel, E.M. Valente, K.K. Vaux, L. Weibel, J.M. Ceballos Quintal, D. Chitayat and M. Vikkula. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies and specific neural tumors associated with RASA1 mutations. Human Mutation. 2008 Apr 29.

Dimmock D, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia. Human Genetics. 2009 Aug;126(2):341.

Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, O'Brien WE, Fang P. The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia. American Journal of Medical Genetics A. 2010 Apr;152A(4):1061.

Eichenfield LF, Krakowski AC, Piggott C, Del Rosso J, Baldwin H, Friedlander SF, Levy M, Lucky A, Mancini AJ, Orlow SJ, Yan AC, Vaux KK, Webster G, Zaenglein AL, Thiboutot DM. Evidence-based recommendations for the diagnosis and treatment of pediatric acne. Pediatrics. 2013 May;131 Suppl 3:S163-86.

Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux RK, Van Vleet J, Fenstermaker AG, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, Oraby A, Zaki MS, Al-Baradie R, Faqeih EA, Saleh MA, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, Morisaki T, Holmes EW, Gleeson JG. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell. 2013 Aug 1;154(3):505-17.

Rosti RO, Sadek AA, Vaux KK, Gleeson JG. The Genetic Landscape of Autism Spectrum Disorders. Developmental Medicine and Child Neurology. 2013 Oct 1. 56(1):12-8

Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki, Matan Hofree, Jennifer L. Silhavy, Andrew D. Heiberg, Mostafa Abdellateef, Basak Rosti, Eric Scott, Lobna Mansour, Amira Masri, Hulya Kayserili, Jumana Y. Al-Aama, Ghada M.H. Abdel-Salam, Ariana Karminejad, Majdi Kara, Bulent Kara, Bita Bozorgmehri, Tawfeg Ben-Omran, Faezeh Mojahedi, Iman Gamal El Din Mahmoud, Naima Bouslam, Ahmed Bouhouche, Ali Benomar, Sylvain Hanein, Laure Raymond, Sylvie Forlani, Massimo Mascaro, Laila Selim, Nabil Shehata, Nasir Al-Allawi, P.S. Bindu, Matloob Azam, Murat Gunel, Ahmet Caglayan, Kaya Bilguvar, Asli Tolun, Mahmoud Y. Issa, Jana Schroth, Emily G. Spencer, Rasim O. Rosti, Naiara Akizu, Keith K. Vaux, Anide Johansen, Alice A. Koh, Hisham Megahed, Alexandra Durr, Alexis Brice, Giovanni Stevanin, Stacy Gabriel, Trey Ideker, Joseph G. Gleeson. Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders. Science. 2014 Jan 31;343(6170):506-11.

Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Muller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nature Genetics. 2015 May;47(5):528-34.

Chambers, CD; Zellner, JA, Feldman, H; Akshoomoff, N; Xu, R; Coles, CD; Kable, JA; Manning, M; Adam, M; Vaux, K; Developing A Valid Prevalence Estimate For Fetal Alcohol Spectrum Disorders In A Large, Diverse Urban US Community. Alcoholism: Clinical & Experimental Research. 2015 June: 260A

Guemez-Gamboa A, Nguyen LN, Yang H, Zaki MS, Kara M, Ben-Omran T, Akizu N, Rosti RO, Rosti B, Scott E, Schroth J, Copeland B, Vaux KK, Cazenave-Gassiot A, Quek DQ, Wong BH, Tan BC, Wenk MR, Gunel M, Gabriel S, Chi NC, Silver DL, Gleeson JG. Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nature Genetics. 2015 Jul;47(7):809-13.

Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati M, Incecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strmme P, Boltshauser E, Stanzial F, Mirabelli-Badenier M, Moroni I, Bertini E, Emma F, Steinlin M, Hildebrandt F, Johnson CA, Freilinger M, Vaux KK, Gabriel SB, Aza-Blanc P, Heynen-Genel S, Ideker T, Dynlacht BD, Lee JE, Valente EM, Kim J, Gleeson JG. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife (Howard Hughes Foundation). 2015 May 30;4.

Rosti RO, Dikoglu E, Zaki MS, Abdel-Salam G, Makhseed N, Sese JC, Musaev D, Rosti B, Harbert MJ, Jones MC, Vaux KK, Gleeson JG. Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. American Journal of Medical Genetics. Part A. 2016; 170A(4):992-8.

Ilse Meerschaut, Justine Petre, Nicole Revencu, Damien Lederer, Milen Vilenov, Thomy de Ravel, Djalila Mekahli, Keith Vaux, Jonathan Sebat, Fadi Hamdan, Jacques Michaud, Pablo Lapunzina, Nataliya Di Donato, Louanne Hudgins, Andrea Hanson- Kahn, Bruno Dallapiccola, Antonio Novelli, Joris Andrieux, Magdalena Budisteanu and Bert Callewaert. FOXP1-related Intellectual Disability Syndrome: a Recognizable Entity. Belgian Journal of Pediatrics, 2016 18:9999.

Brandler WM, Antaki D, Gujral M, Noor M, Rosanio G, Chapman TR, Barrera DJ, Lin GN, Malhotra D, Watts AC, Wong LC, Estabillo JA, Gadomski TE, Hong O, Fuentes Fajardo KV, Bhandari A, Owen R, Baughn M, Yuan J, Solomon T, Moyzis AG, Maile MS, Sanders SJ, Reiner GE, Vaux KK, Strom CM, Zhang K, Muotri AR, Akshoomoff N, Leal SM, Pierce K, Courchesne E, Iakoucheva LM Corsello C, and Sebat J. Frequency and Complexity of De Novo Structural Mutation in Autism. American Journal of Human Genetics. 2016 Apr 7;98(4):667-79.

Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, Juul S, Turner DJ, Thiruvahindrapuram B, Kaur G, Wang Z, Kingsmore SF, Gleeson JG, Bisson D, Kakaradov B, Telenti A, Venter JC, Corominas R, Toma C, Cormand B, Rueda I, Guijarro S, Messer KS, Nievergelt CM, Arranz MJ, Courchesne E, Pierce K, Muotri AR, Iakoucheva LM, Hervas A, Scherer SW, Corsello C, Sebat J. Paternally inherited cis-regulatory structural variants are associated with autism. Science. 2018 Apr 20;360(6386):327-331.

Meerschaut I, Rochefort D, Revencu N, Petre J, Corsello C, Rouleau Ga, Hamdan Ff, Michaud Jl, Morton J, Radley J, Ragge N, Garcia-Minaur S, Lapunzina P, Bralo Mp, Mori Ma, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, De Ravel Tj, Mekahli D, Sebat J, Vaux KK, Didonato N, Hanson-Kahn Ak, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker Mj, Neas K, Ceulemans B, Schoonjans As, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion Pa, Lederer D, Callewaert B. Foxp1-Related Intellectual Disability Syndrome: A Recognisable Entity. Journal Of Medical Genetics 2017;54:613-623.

May PA, Chambers CD, Kalberg WO, Zellner J, Feldman H, Buckley D, Kopald D, Hasken JM, Xu R, Honerkamp-Smith G, Taras H, Manning MA, Robinson LK, Adam MP, Abdul-Rahman O, Vaux K, Jewett T, Elliott AJ, Kable JA, Akshoomoff N, Falk D, Arroyo JA, Hereld D, Riley EP, Charness ME, Coles CD, Warren KR, Jones KL, Hoyme HE. Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities. Journal of the American Medical Association (JAMA). 2018 Feb 6;319(5):474-482.

Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmuller J, Nurnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. American Journal of Human Genetics. 2018 Sep 6;103(3):431-439. Epub 2018 Aug 9. Erratum in: Am J Hum Genet. 2018 Nov 1;103(5):826.

Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmuller J, Nurnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. American Journal of Human Genetics. 2018 Nov 1;103(5):826.

Chambers CD, Johnson DL, Xu R, Luo Y, Lopez-Jimenez J, Adam MP, Braddock SR, Robinson LK, Vaux K, Lyons Jones K; OTIS Collaborative Research Group. Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study. PLoS One. 2019;14(10):e0223603. 2019 Oct 18.

Read this article:
Doctors Page - Health Nucleus