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Items: 1 to 50 of 172

1.

Human genetics and molecular mechanisms of congenital hydrocephalus.

Furey CG, Zeng X, Dong W, Jin SC, Choi J, Timberlake AT, Dunbar AM, Allocco AA, Günel M, Lifton RP, Kahle KT.

World Neurosurg. 2018 Sep 8. pii: S1878-8750(18)32061-8. doi: 10.1016/j.wneu.2018.09.018. [Epub ahead of print] No abstract available.

PMID:
30205212
2.

Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome.

Guemez-Gamboa A, Çağlayan AO, Stanley V, Gregor A, Zaki M, Saleem SN, Musaev D, McEvoy-Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, Fang R, Issa MY, Per H, Gumus H, Bayram AK, Kumandas S, Akgumus GT, Erson-Omay EZ, Yasuno K, Bilguvar K, Gali H, Pillar N, Shomron N, Weissglas-Volkov D, Porat Y, Einhorn Y, Gabriel S, Ben-Zeev B, Gunel M, Gleeson JG.

Ann Neurol. 2018 Sep 3. doi: 10.1002/ana.25327. [Epub ahead of print]

PMID:
30178464
3.

P 087 - The effects of group training onbalance and gait in a child with polyneuropathy.

Üneş S, Tunçdemir M, Seyhan K, Çankaya O, Günel MK.

Gait Posture. 2018 Jul 10. pii: S0966-6362(18)31076-2. doi: 10.1016/j.gaitpost.2018.07.022. [Epub ahead of print] No abstract available.

PMID:
30145010
4.

P 107 - Do Kinesio-tape change upper extremity position, functional status and family satisfaction of children with Unilateral Cerebral Palsy in short term?

Seyhan K, Çankaya Ö, Tunçdemir M, Üneş S, Günel MK.

Gait Posture. 2018 Sep;65 Suppl 1:411-412. doi: 10.1016/j.gaitpost.2018.07.030. Epub 2018 Jul 29.

PMID:
30064880
5.

P 111 - Rehabilitation results in children with ataxia telengiectasia: three case reports.

Cankaya O, Seyhan K, Günel MK.

Gait Posture. 2018 Sep;65 Suppl 1:421. doi: 10.1016/j.gaitpost.2018.07.034. Epub 2018 Jul 24. No abstract available.

PMID:
30054052
6.

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.

Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG.

Nat Genet. 2018 Aug;50(8):1093-1101. doi: 10.1038/s41588-018-0166-0. Epub 2018 Jul 16.

PMID:
30013181
7.

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.

Furey CG, Choi J, Jin SC, Zeng X, Timberlake AT, Nelson-Williams C, Mansuri MS, Lu Q, Duran D, Panchagnula S, Allocco A, Karimy JK, Khanna A, Gaillard JR, DeSpenza T, Antwi P, Loring E, Butler WE, Smith ER, Warf BC, Strahle JM, Limbrick DD, Storm PB, Heuer G, Jackson EM, Iskandar BJ, Johnston JM, Tikhonova I, Castaldi C, López-Giráldez F, Bjornson RD, Knight JR, Bilguvar K, Mane S, Alper SL, Haider S, Guclu B, Bayri Y, Sahin Y, Apuzzo MLJ, Duncan CC, DiLuna ML, Günel M, Lifton RP, Kahle KT.

Neuron. 2018 Jul 25;99(2):302-314.e4. doi: 10.1016/j.neuron.2018.06.019. Epub 2018 Jul 5.

PMID:
29983323
8.

O 044 - Is there a relationship between trunk control, hand ability, communication and eating-drinking functions in children with spastic cerebral palsy?

Seyhan K, Çankaya Ö, Günel MK.

Gait Posture. 2018 Sep;65 Suppl 1:90. doi: 10.1016/j.gaitpost.2018.06.062. Epub 2018 Jun 19. No abstract available.

PMID:
29958786
9.

De novo MYH9 mutation in congenital scalp hemangioma.

Fomchenko EI, Duran D, Jin SC, Dong W, Erson-Omay EZ, Antwi P, Allocco A, Gaillard JR, Huttner A, Gunel M, DiLuna ML, Kahle KT.

Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4). pii: a002998. doi: 10.1101/mcs.a002998. Print 2018 Aug.

10.

9p24 triplication and 15q13 deletion in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus.

Furey C, Antwi P, Duran D, Timberlake AT, Nelson-Williams C, Matouk CC, DiLuna ML, Günel M, Kahle KT.

Cold Spring Harb Mol Case Stud. 2018 Jun 12. pii: mcs.a003145. doi: 10.1101/mcs.a003145. [Epub ahead of print]

11.

Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Harmancı AS, Youngblood MW, Clark VE, Coşkun S, Henegariu O, Duran D, Erson-Omay EZ, Kaulen LD, Lee TI, Abraham BJ, Simon M, Krischek B, Timmer M, Goldbrunner R, Omay SB, Baranoski J, Baran B, Carrión-Grant G, Bai H, Mishra-Gorur K, Schramm J, Moliterno J, Vortmeyer AO, Bilgüvar K, Yasuno K, Young RA, Günel M.

Nat Commun. 2018 Apr 20;9:16215. doi: 10.1038/ncomms16215.

12.

Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

Yilmaz S, Uludağ Alkaya D, Kasapçopur Ö, Barut K, Akdemir ES, Celen C, Youngblood MW, Yasuno K, Bilguvar K, Günel M, Tüysüz B.

Mol Genet Genomic Med. 2018 Mar;6(2):230-248. doi: 10.1002/mgg3.364. Epub 2018 Feb 4.

13.

Human genetics and molecular mechanisms of vein of Galen malformation.

Duran D, Karschnia P, Gaillard JR, Karimy JK, Youngblood MW, DiLuna ML, Matouk CC, Aagaard-Kienitz B, Smith ER, Orbach DB, Rodesch G, Berenstein A, Gunel M, Kahle KT.

J Neurosurg Pediatr. 2018 Apr;21(4):367-374. doi: 10.3171/2017.9.PEDS17365. Epub 2018 Jan 19.

PMID:
29350590
14.

Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.

Kaymakcalan H, Yarman Y, Goc N, Toy F, Meral C, Ercan-Sencicek AG, Gunel M.

Am J Med Genet A. 2018 Feb;176(2):421-425. doi: 10.1002/ajmg.a.38558. Epub 2017 Dec 11.

PMID:
29226631
15.

Functional differences between PD-1+ and PD-1- CD4+ effector T cells in healthy donors and patients with glioblastoma multiforme.

Goods BA, Hernandez AL, Lowther DE, Lucca LE, Lerner BA, Gunel M, Raddassi K, Coric V, Hafler DA, Love JC.

PLoS One. 2017 Sep 7;12(9):e0181538. doi: 10.1371/journal.pone.0181538. eCollection 2017.

16.

AAV-mediated direct in vivo CRISPR screen identifies functional suppressors in glioblastoma.

Chow RD, Guzman CD, Wang G, Schmidt F, Youngblood MW, Ye L, Errami Y, Dong MB, Martinez MA, Zhang S, Renauer P, Bilguvar K, Gunel M, Sharp PA, Zhang F, Platt RJ, Chen S.

Nat Neurosci. 2017 Oct;20(10):1329-1341. doi: 10.1038/nn.4620. Epub 2017 Aug 14.

17.

Inflammation-dependent cerebrospinal fluid hypersecretion by the choroid plexus epithelium in posthemorrhagic hydrocephalus.

Karimy JK, Zhang J, Kurland DB, Theriault BC, Duran D, Stokum JA, Furey CG, Zhou X, Mansuri MS, Montejo J, Vera A, DiLuna ML, Delpire E, Alper SL, Gunel M, Gerzanich V, Medzhitov R, Simard JM, Kahle KT.

Nat Med. 2017 Aug;23(8):997-1003. doi: 10.1038/nm.4361. Epub 2017 Jul 10.

PMID:
28692063
18.

ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.

Çağlayan AO, Sezer RG, Kaymakçalan H, Ulgen E, Yavuz T, Baranoski JF, Bozaykut A, Harmanci AS, Yalcin Y, Youngblood MW, Yasuno K, Bilgüvar K, Gunel M.

Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5). pii: a001859. doi: 10.1101/mcs.a001859. Print 2017 Sep.

19.

Use of telomerase promoter mutations to mark specific molecular subsets with reciprocal clinical behavior in IDH mutant and IDH wild-type diffuse gliomas.

Akyerli CB, Yüksel Ş, Can Ö, Erson-Omay EZ, Oktay Y, Coşgun E, Ülgen E, Erdemgil Y, Sav A, von Deimling A, Günel M, Yakıcıer MC, Pamir MN, Özduman K.

J Neurosurg. 2018 Apr;128(4):1102-1114. doi: 10.3171/2016.11.JNS16973. Epub 2017 Jun 16.

PMID:
28621624
20.

Combined HMG-COA reductase and prenylation inhibition in treatment of CCM.

Nishimura S, Mishra-Gorur K, Park J, Surovtseva YV, Sebti SM, Levchenko A, Louvi A, Gunel M.

Proc Natl Acad Sci U S A. 2017 May 23;114(21):5503-5508. doi: 10.1073/pnas.1702942114. Epub 2017 May 12.

21.

Exome analysis of the evolutionary path of hepatocellular adenoma-carcinoma transition, vascular invasion and brain dissemination.

Vilarinho S, Erson-Omay EZ, Mitchell-Richards K, Cha C, Nelson-Williams C, Harmancı AS, Yasuno K, Günel M, Taddei TH.

J Hepatol. 2017 Jul;67(1):186-191. doi: 10.1016/j.jhep.2017.03.009. Epub 2017 Mar 18.

22.

Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly.

Sgourdou P, Mishra-Gorur K, Saotome I, Henagariu O, Tuysuz B, Campos C, Ishigame K, Giannikou K, Quon JL, Sestan N, Caglayan AO, Gunel M, Louvi A.

Sci Rep. 2017 Mar 8;7:43708. doi: 10.1038/srep43708.

23.

Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Harmancı AS, Youngblood MW, Clark VE, Coşkun S, Henegariu O, Duran D, Erson-Omay EZ, Kaulen LD, Lee TI, Abraham BJ, Simon M, Krischek B, Timmer M, Goldbrunner R, Omay SB, Baranoski J, Baran B, Carrión-Grant G, Bai H, Mishra-Gorur K, Schramm J, Moliterno J, Vortmeyer AO, Bilgüvar K, Yasuno K, Young RA, Günel M.

Nat Commun. 2017 Feb 14;8:14433. doi: 10.1038/ncomms14433. Erratum in: Nat Commun. 2018 Apr 20;9:16215.

24.

Longitudinal analysis of treatment-induced genomic alterations in gliomas.

Erson-Omay EZ, Henegariu O, Omay SB, Harmancı AS, Youngblood MW, Mishra-Gorur K, Li J, Özduman K, Carrión-Grant G, Clark VE, Çağlar C, Bakırcıoğlu M, Pamir MN, Tabar V, Vortmeyer AO, Bilguvar K, Yasuno K, DeAngelis LM, Baehring JM, Moliterno J, Günel M.

Genome Med. 2017 Feb 2;9(1):12. doi: 10.1186/s13073-017-0401-9.

25.

2-Hydroxyglutarate produced by neomorphic IDH mutations suppresses homologous recombination and induces PARP inhibitor sensitivity.

Sulkowski PL, Corso CD, Robinson ND, Scanlon SE, Purshouse KR, Bai H, Liu Y, Sundaram RK, Hegan DC, Fons NR, Breuer GA, Song Y, Mishra-Gorur K, De Feyter HM, de Graaf RA, Surovtseva YV, Kachman M, Halene S, Günel M, Glazer PM, Bindra RS.

Sci Transl Med. 2017 Feb 1;9(375). pii: eaal2463. doi: 10.1126/scitranslmed.aal2463.

26.

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.

Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG.

Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762. Epub 2017 Jan 16.

27.

Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.

Duran D, Jin SC, DeSpenza T Jr, Nelson-Williams C, Cogal AG, Abrash EW, Harris PC, Lieske JC, Shimshak SJ, Mane S, Bilguvar K, DiLuna ML, Günel M, Lifton RP, Kahle KT.

Hum Genome Var. 2016 Dec 8;3:16042. doi: 10.1038/hgv.2016.42. eCollection 2016.

28.

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.

Tărlungeanu DC, Deliu E, Dotter CP, Kara M, Janiesch PC, Scalise M, Galluccio M, Tesulov M, Morelli E, Sonmez FM, Bilguvar K, Ohgaki R, Kanai Y, Johansen A, Esharif S, Ben-Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan KE, Caglayan AO, Gunel M, Gleeson JG, Novarino G.

Cell. 2016 Dec 1;167(6):1481-1494.e18. doi: 10.1016/j.cell.2016.11.013.

29.

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

Jerber J, Zaki MS, Al-Aama JY, Rosti RO, Ben-Omran T, Dikoglu E, Silhavy JL, Caglar C, Musaev D, Albrecht B, Campbell KP, Willer T, Almuriekhi M, Çağlayan AO, Vajsar J, Bilgüvar K, Ogur G, Abou Jamra R, Günel M, Gleeson JG.

Am J Hum Genet. 2016 Nov 3;99(5):1181-1189. doi: 10.1016/j.ajhg.2016.09.007. Epub 2016 Oct 20.

30.

ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.

Vilarinho S, Sari S, Mazzacuva F, Bilgüvar K, Esendagli-Yilmaz G, Jain D, Akyol G, Dalgiç B, Günel M, Clayton PT, Lifton RP.

Proc Natl Acad Sci U S A. 2016 Oct 4;113(40):11289-11293. Epub 2016 Sep 19.

31.

Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing.

Yılmaz B, Toktaş ZO, Akakın A, Işık S, Bilguvar K, Kılıç T, Günel M.

J Neurosurg. 2017 Jun;126(6):1879-1883. doi: 10.3171/2016.6.JNS16665. Epub 2016 Sep 9.

PMID:
27611203
32.

Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas.

Clark VE, Harmancı AS, Bai H, Youngblood MW, Lee TI, Baranoski JF, Ercan-Sencicek AG, Abraham BJ, Weintraub AS, Hnisz D, Simon M, Krischek B, Erson-Omay EZ, Henegariu O, Carrión-Grant G, Mishra-Gorur K, Durán D, Goldmann JE, Schramm J, Goldbrunner R, Piepmeier JM, Vortmeyer AO, Günel JM, Bilgüvar K, Yasuno K, Young RA, Günel M.

Nat Genet. 2016 Oct;48(10):1253-9. doi: 10.1038/ng.3651. Epub 2016 Aug 22.

33.

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

Li H, Bielas SL, Zaki MS, Ismail S, Farfara D, Um K, Rosti RO, Scott EC, Tu S, Chi NC, Gabriel S, Erson-Omay EZ, Ercan-Sencicek AG, Yasuno K, Çağlayan AO, Kaymakçalan H, Ekici B, Bilguvar K, Gunel M, Gleeson JG.

Am J Hum Genet. 2016 Aug 4;99(2):501-10. doi: 10.1016/j.ajhg.2016.07.004. Epub 2016 Jul 21.

34.

IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation.

Oktay Y, Ülgen E, Can Ö, Akyerli CB, Yüksel Ş, Erdemgil Y, Durası IM, Henegariu OI, Nanni EP, Selevsek N, Grossmann J, Erson-Omay EZ, Bai H, Gupta M, Lee W, Turcan Ş, Özpınar A, Huse JT, Sav MA, Flanagan A, Günel M, Sezerman OU, Yakıcıer MC, Pamir MN, Özduman K.

Sci Rep. 2016 Jun 10;6:27569. doi: 10.1038/srep27569.

35.

PD-1 marks dysfunctional regulatory T cells in malignant gliomas.

Lowther DE, Goods BA, Lucca LE, Lerner BA, Raddassi K, van Dijk D, Hernandez AL, Duan X, Gunel M, Coric V, Krishnaswamy S, Love JC, Hafler DA.

JCI Insight. 2016 Apr 21;1(5). pii: e85935.

36.

B-Cell Depletion Reduces the Maturation of Cerebral Cavernous Malformations in Murine Models.

Shi C, Shenkar R, Zeineddine HA, Girard R, Fam MD, Austin C, Moore T, Lightle R, Zhang L, Wu M, Cao Y, Gunel M, Louvi A, Rorrer A, Gallione C, Marchuk DA, Awad IA.

J Neuroimmune Pharmacol. 2016 Jun;11(2):369-77. doi: 10.1007/s11481-016-9670-0. Epub 2016 Apr 16.

PMID:
27086141
37.

Functional independence measure scores of patients with hemiplegia followed up at home and in university hospitals.

Aydin T, Taspinar O, Kepekci M, Keskin Y, Erten B, Gunel M, Gok M, Bektas E, Sarac M, Mutluer AS.

J Phys Ther Sci. 2016 Jan;28(2):553-7. doi: 10.1589/jpts.28.553. Epub 2016 Feb 29.

38.

Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.

Vilarinho S, Sari S, Yilmaz G, Stiegler AL, Boggon TJ, Jain D, Akyol G, Dalgic B, Günel M, Lifton RP.

Hepatology. 2016 Jun;63(6):1977-86. doi: 10.1002/hep.28499. Epub 2016 Mar 31.

39.

Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?

Tüysüz B, Ercan-Sencicek AG, Canpolat N, Koparır A, Yılmaz S, Kılıçaslan I, Gülez B, Bilguvar K, Günel M.

Am J Med Genet A. 2016 May;170A(5):1187-95. doi: 10.1002/ajmg.a.37543. Epub 2016 Jan 8.

PMID:
26749367
40.

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP.

Çağlayan AO, Tüysüz B, Coşkun S, Quon J, Harmancı AS, Baranoski JF, Baran B, Erson-Omay EZ, Henegariu O, Mane SM, Bilgüvar K, Yasuno K, Günel M.

J Hum Genet. 2016 May;61(5):395-403. doi: 10.1038/jhg.2015.160. Epub 2016 Jan 7.

41.

Augmentor α and β (FAM150) are ligands of the receptor tyrosine kinases ALK and LTK: Hierarchy and specificity of ligand-receptor interactions.

Reshetnyak AV, Murray PB, Shi X, Mo ES, Mohanty J, Tome F, Bai H, Gunel M, Lax I, Schlessinger J.

Proc Natl Acad Sci U S A. 2015 Dec 29;112(52):15862-7. doi: 10.1073/pnas.1520099112. Epub 2015 Nov 16.

42.

Integrated genomic characterization of IDH1-mutant glioma malignant progression.

Bai H, Harmancı AS, Erson-Omay EZ, Li J, Coşkun S, Simon M, Krischek B, Özduman K, Omay SB, Sorensen EA, Turcan Ş, Bakırcığlu M, Carrión-Grant G, Murray PB, Clark VE, Ercan-Sencicek AG, Knight J, Sencar L, Altınok S, Kaulen LD, Gülez B, Timmer M, Schramm J, Mishra-Gorur K, Henegariu O, Moliterno J, Louvi A, Chan TA, Tannheimer SL, Pamir MN, Vortmeyer AO, Bilguvar K, Yasuno K, Günel M.

Nat Genet. 2016 Jan;48(1):59-66. doi: 10.1038/ng.3457. Epub 2015 Nov 30.

43.

Is there any difference between high-risk infants with different birth weight and gestational age in neurodevelopmental characters?

Kara ÖK, Günel MK, Açıkel C, Yiğit Ş, Arslan M.

Turk Pediatri Ars. 2015 Sep 1;50(3):151-7. doi: 10.5152/TurkPediatriArs.2015.2620. eCollection 2015 Sep.

44.

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA; Centers for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2015 Aug 6;97(2):199-215. doi: 10.1016/j.ajhg.2015.06.009. Epub 2015 Jul 9. Review.

45.

Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene.

Juhlin CC, Stenman A, Haglund F, Clark VE, Brown TC, Baranoski J, Bilguvar K, Goh G, Welander J, Svahn F, Rubinstein JC, Caramuta S, Yasuno K, Günel M, Bäckdahl M, Gimm O, Söderkvist P, Prasad ML, Korah R, Lifton RP, Carling T.

Genes Chromosomes Cancer. 2015 Sep;54(9):542-54. doi: 10.1002/gcc.22267. Epub 2015 May 29.

46.

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.

47.

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel JL, Stevenson RE, Friez MJ, Aylsworth AS.

Eur J Hum Genet. 2015 Nov;23(11):1482-7. doi: 10.1038/ejhg.2015.29. Epub 2015 Apr 29.

48.

A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.

He P, Grotzke JE, Ng BG, Gunel M, Jafar-Nejad H, Cresswell P, Enns GM, Freeze HH.

Glycobiology. 2015 Aug;25(8):836-44. doi: 10.1093/glycob/cwv024. Epub 2015 Apr 21.

49.

Functional synergy between cholecystokinin receptors CCKAR and CCKBR in mammalian brain development.

Nishimura S, Bilgüvar K, Ishigame K, Sestan N, Günel M, Louvi A.

PLoS One. 2015 Apr 15;10(4):e0124295. doi: 10.1371/journal.pone.0124295. eCollection 2015.

50.

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.

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