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Items: 26

1.

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

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, Altmüller J, Nürnberg 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.

Am J Hum Genet. 2018 Nov 1;103(5):826. doi: 10.1016/j.ajhg.2018.10.002. No abstract available.

2.

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

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, Altmüller J, Nürnberg 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.

Am J Hum Genet. 2018 Sep 6;103(3):431-439. doi: 10.1016/j.ajhg.2018.07.010. Epub 2018 Aug 9. Erratum in: Am J Hum Genet. 2018 Nov 1;103(5):826.

3.

Paternally inherited cis-regulatory structural variants are associated with autism.

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.

Science. 2018 Apr 20;360(6386):327-331. doi: 10.1126/science.aan2261.

4.

FOXP1-related intellectual disability syndrome: a recognisable entity.

Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, 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.

J Med Genet. 2017 Sep;54(9):613-623. doi: 10.1136/jmedgenet-2017-104579. Epub 2017 Jul 22. Erratum in: J Med Genet. 2018 Jan;55(1):72-73. J Med Genet. 2018 Feb 13;:.

PMID:
28735298
5.

Frequency and Complexity of De Novo Structural Mutation in Autism.

Brandler WM, Antaki D, Gujral M, Noor A, Rosanio G, Chapman TR, Barrera DJ, Lin GN, Malhotra D, Watts AC, Wong LC, Estabillo JA, Gadomski TE, Hong O, 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, Sebat J.

Am J Hum Genet. 2016 Apr 7;98(4):667-79. doi: 10.1016/j.ajhg.2016.02.018. Epub 2016 Mar 24.

6.

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

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.

Am J Med Genet A. 2016 Apr;170A(4):992-8. doi: 10.1002/ajmg.a.37533. Epub 2016 Jan 5.

7.

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

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 MA, İncecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strømme 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.

Elife. 2015 May 30;4:e06602. doi: 10.7554/eLife.06602.

8.

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

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.

Nat Genet. 2015 Jul;47(7):809-13. doi: 10.1038/ng.3311. Epub 2015 May 25.

9.

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

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, Sagıroglu 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, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG.

Nat Genet. 2015 May;47(5):528-34. doi: 10.1038/ng.3256. Epub 2015 Apr 6.

10.

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG.

Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363.

11.

The genetic landscape of autism spectrum disorders.

Rosti RO, Sadek AA, Vaux KK, Gleeson JG.

Dev Med Child Neurol. 2014 Jan;56(1):12-8. doi: 10.1111/dmcn.12278. Epub 2013 Oct 1. Review.

12.

Evidence-based recommendations for the diagnosis and treatment of pediatric acne.

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; American Acne and Rosacea Society.

Pediatrics. 2013 May;131 Suppl 3:S163-86. doi: 10.1542/peds.2013-0490B.

PMID:
23637225
13.

Use of multiplanar 3-dimensional ultrasonography for prenatal sex identification.

Hackett LK, Tarsa M, Wolfson TJ, Kaplan G, Vaux KK, Pretorius DH.

J Ultrasound Med. 2010 Feb;29(2):195-202.

PMID:
20103789
14.

Acardiac fetus: evidence in support of a vascular/hypoxia pathogenesis for isolated oral clefting.

Jones KL, Webster WS, Vaux KK, Benirschke K.

Birth Defects Res A Clin Mol Teratol. 2008 Aug;82(8):597-600. doi: 10.1002/bdra.20473.

PMID:
18553490
15.

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

Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M.

Hum Mutat. 2008 Jul;29(7):959-65. doi: 10.1002/humu.20746.

PMID:
18446851
16.

Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature--is sonic hedgehog the common pathway?

Vaux KK, Jones MC, Benirschke K, Bird LM, Jones KL.

Am J Med Genet A. 2005 Jan 30;132A(3):314-7. Review.

PMID:
15690378
17.

Neonatal phenotype in Kabuki syndrome.

Vaux KK, Hudgins L, Bird LM, Roeder E, Curry CJ, Jones M, Jones KL.

Am J Med Genet A. 2005 Jan 30;132A(3):244-7.

PMID:
15690369
18.

Developmental outcome in Kabuki syndrome.

Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L.

Am J Med Genet A. 2005 Jan 30;132A(3):263-4.

PMID:
15523636
19.

Acardiac twin with externalized intestine adherent to placenta: unusual manifestation of omphalocele.

Emery SC, Vaux KK, Pretorius D, Masliah E, Benirschke K.

Pediatr Dev Pathol. 2004 Jan-Feb;7(1):81-5.

PMID:
15255039
20.
21.

Cyclophosphamide, methotrexate, and cytarabine embropathy: is apoptosis the common pathway?

Vaux KK, Kahole NC, Jones KL.

Birth Defects Res A Clin Mol Teratol. 2003 Jun;67(6):403-8.

PMID:
12962283
22.

Vocal cord abnormalities in Williams syndrome: a further manifestation of elastin deficiency.

Vaux KK, Wojtczak H, Benirschke K, Jones KL.

Am J Med Genet A. 2003 Jun 15;119A(3):302-4.

PMID:
12784297
23.
24.

Use of gabapentin in the treatment of childhood reflex sympathetic dystrophy.

Wheeler DS, Vaux KK, Tam DA.

Pediatr Neurol. 2000 Mar;22(3):220-1.

PMID:
10734253
25.

Development of a pediatric critical care transport team: experience at a military medical center.

Wheeler DS, Sperring JL, Vaux KK, Poss WB.

Mil Med. 1999 Mar;164(3):188-93.

PMID:
10091491
26.

Streptococcal pyomyositis: case report and review.

Wheeler DS, Vazquez WD, Vaux KK, Poss WB.

Pediatr Emerg Care. 1998 Dec;14(6):411-2. Review.

PMID:
9881987

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