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Items: 1 to 50 of 383

1.

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG.

Am J Hum Genet. 2019 Oct 3;105(4):844-853. doi: 10.1016/j.ajhg.2019.08.013.

PMID:
31585108
2.

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, Devauchelle B, Geneviève D, Gondry-Jouet C, Guibaud L, Lafon A, Mathieu-Dramard M, Thevenon J, Dobyns WB, Bernard G, Polubothu S, Faravelli F, Kinsler VA, Thauvin C, Faivre L, Ross ME, Rivière JB.

Nat Genet. 2019 Sep 30. doi: 10.1038/s41588-019-0498-4. [Epub ahead of print]

PMID:
31570889
3.

Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations.

Zenner K, Cheng CV, Jensen DM, Timms AE, Shivaram G, Bly R, Ganti S, Whitlock KB, Dobyns WB, Perkins J, Bennett JT.

JCI Insight. 2019 Sep 19. pii: 129884. doi: 10.1172/jci.insight.129884. [Epub ahead of print]

4.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS.

Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5.

PMID:
31495489
5.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV.

Am J Hum Genet. 2019 Sep 5;105(3):672-674. doi: 10.1016/j.ajhg.2019.07.017. No abstract available.

6.

Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals.

Oegema R, Barkovich AJ, Mancini GMS, Guerrini R, Dobyns WB.

Neurology. 2019 Oct 1;93(14):e1360-e1373. doi: 10.1212/WNL.0000000000008200. Epub 2019 Sep 4.

PMID:
31484711
7.

Redefining the Etiologic Landscape of Cerebellar Malformations.

Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB.

Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29.

PMID:
31474318
8.

Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.

Dobyns WB, Mirzaa GM.

Am J Med Genet C Semin Med Genet. 2019 Aug 23. doi: 10.1002/ajmg.c.31736. [Epub ahead of print]

PMID:
31441589
9.

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.

Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E, Bax DA, Ciolfi A, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L, Dobyns WB, Mohammed AA, Clokie SJH, Zazo Seco C, Jiang YH, Sørensen KP, Andersen H, Sullivan J, Powis Z, Chassevent A, Smith-Hicks C, Petrovski S, Antoniadi T, Shashi V, Gelb BD, Wilson SW, Gerrelli D, Tartaglia M, Chassaing N, Calvas P, Ragge NK.

Am J Hum Genet. 2019 Sep 5;105(3):640-657. doi: 10.1016/j.ajhg.2019.07.005. Epub 2019 Aug 8.

10.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV.

Am J Hum Genet. 2019 Aug 1;105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18. Erratum in: Am J Hum Genet. 2019 Sep 5;105(3):672-674.

PMID:
31327508
11.

Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.

Karasozen Y, Osbun JW, Parada CA, Busald T, Tatman P, Gonzalez-Cuyar LF, Hale CJ, Alcantara D, O'Driscoll M, Dobyns WB, Murray M, Kim LJ, Byers P, Dorschner MO, Ferreira M Jr.

Am J Hum Genet. 2019 May 2;104(5):968-976. doi: 10.1016/j.ajhg.2019.03.014. Epub 2019 Apr 25.

PMID:
31031011
12.

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

Vandervore LV, Schot R, Kasteleijn E, Oegema R, Stouffs K, Gheldof A, Grochowska MM, van der Sterre MLT, van Unen LMA, Wilke M, Elfferich P, van der Spek PJ, Heijsman D, Grandone A, Demmers JAA, Dekkers DHW, Slotman JA, Kremers GJ, Schaaf GJ, Masius RG, van Essen AJ, Rump P, van Haeringen A, Peeters E, Altunoglu U, Kalayci T, Poot RA, Dobyns WB, Bahi-Buisson N, Verheijen FW, Jansen AC, Mancini GMS.

Brain. 2019 Apr 1;142(4):867-884. doi: 10.1093/brain/awz045. Erratum in: Brain. 2019 Jun 1;142(6):e29.

13.

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH.

Hum Mutat. 2019 Jul;40(7):908-925. doi: 10.1002/humu.23731. Epub 2019 Apr 24.

PMID:
30817854
14.

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F.

Eur J Med Genet. 2019 Jan 25. pii: S1769-7212(18)30802-4. doi: 10.1016/j.ejmg.2019.01.014. [Epub ahead of print]

PMID:
30690204
15.

Rhombencephalosynapsis: Fused cerebellum, confused geneticists.

Aldinger KA, Dempsey JC, Tully HM, Grout ME, Mehaffey MG, Dobyns WB, Doherty D.

Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):432-439. doi: 10.1002/ajmg.c.31666. Review.

16.

An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome.

Moog U, Dobyns WB.

Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):414-422. doi: 10.1002/ajmg.c.31667. Review.

PMID:
30580480
17.

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.

Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczałuba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, Engle EC, Verheijen FW, Doherty D, Mancini GMS.

Am J Hum Genet. 2018 Dec 6;103(6):1009-1021. doi: 10.1016/j.ajhg.2018.10.019. Epub 2018 Nov 21.

18.

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.

Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Valence S, Burglen L, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Chelly J, Cowan NJ, Keays DA.

Neuron. 2018 Dec 19;100(6):1354-1368.e5. doi: 10.1016/j.neuron.2018.10.044. Epub 2018 Nov 15.

PMID:
30449657
19.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gérard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Rivière JB, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ.

Am J Hum Genet. 2018 Nov 1;103(5):752-768. doi: 10.1016/j.ajhg.2018.10.006.

20.

Polymicrogyria Overview.

Stutterd CA, Dobyns WB, Jansen A, Mirzaa G, Leventer RJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2005 Apr 18 [updated 2018 Aug 16].

21.

The Genetic Landscape of Cerebral Steno-Occlusive Arteriopathy and Stroke in Sickle Cell Anemia.

Amlie-Lefond C, Flanagan J, Kanter J, Dobyns WB.

J Stroke Cerebrovasc Dis. 2018 Nov;27(11):2897-2904. doi: 10.1016/j.jstrokecerebrovasdis.2018.06.004. Epub 2018 Jul 31. Review.

PMID:
30076115
22.

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.

23.

Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Ramos EM, Carecchio M, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Tranchant C, Anheim M, Ayrignac X, Goizet C, Vidailhet M, Maltete D, Wallon D, Frebourg T, Pimentel L, Geschwind DH, Vanakker O, Galasko D, Fogel BL, Innes AM, Ross A, Dobyns WB, Alcantara D, O'Driscoll M, Hannequin D, Campion D; French PFBC study group, Oliveira JR, Garavaglia B, Coppola G, Nicolas G.

Eur J Hum Genet. 2018 Oct;26(10):1462-1477. doi: 10.1038/s41431-018-0185-4. Epub 2018 Jun 28.

24.

PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia.

Liu WA, Chen S, Li Z, Lee CH, Mirzaa G, Dobyns WB, Ross ME, Zhang J, Shi SH.

Genes Dev. 2018 Jun 1;32(11-12):763-780. doi: 10.1101/gad.313171.118. Epub 2018 Jun 13.

25.

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M; Epi4K Consortium; Epilepsy Phenome/Genome Project.

PLoS Genet. 2018 May 8;14(5):e1007281. doi: 10.1371/journal.pgen.1007281. eCollection 2018 May.

26.

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.

Brock S, Stouffs K, Scalais E, D'Hooghe M, Keymolen K, Guerrini R, Dobyns WB, Di Donato N, Jansen AC.

Eur J Hum Genet. 2018 Aug;26(8):1132-1142. doi: 10.1038/s41431-018-0146-y. Epub 2018 Apr 30.

27.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS; University of Washington Center for Mendelian Genomics, Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB.

Genet Med. 2018 Nov;20(11):1354-1364. doi: 10.1038/gim.2018.8. Epub 2018 Apr 19.

28.

Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms.

Berg AT, Chakravorty S, Koh S, Grinspan ZM, Shellhaas RA, Saneto RP, Wirrell EC, Coryell J, Chu CJ, Mytinger JR, Gaillard WD, Valencia I, Knupp KG, Loddenkemper T, Sullivan JE, Poduri A, Millichap JJ, Keator C, Wusthoff C, Ryan N, Dobyns WB, Hegde M.

PLoS One. 2018 Mar 8;13(3):e0193599. doi: 10.1371/journal.pone.0193599. eCollection 2018.

29.

Congenital Zika virus infection as a silent pathology with loss of neurogenic output in the fetal brain.

Adams Waldorf KM, Nelson BR, Stencel-Baerenwald JE, Studholme C, Kapur RP, Armistead B, Walker CL, Merillat S, Vornhagen J, Tisoncik-Go J, Baldessari A, Coleman M, Dighe MK, Shaw DWW, Roby JA, Santana-Ufret V, Boldenow E, Li J, Gao X, Davis MA, Swanstrom JA, Jensen K, Widman DG, Baric RS, Medwid JT, Hanley KA, Ogle J, Gough GM, Lee W, English C, Durning WM, Thiel J, Gatenby C, Dewey EC, Fairgrieve MR, Hodge RD, Grant RF, Kuller L, Dobyns WB, Hevner RF, Gale M Jr, Rajagopal L.

Nat Med. 2018 Mar;24(3):368-374. doi: 10.1038/nm.4485. Epub 2018 Feb 5.

30.

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.

Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, Cushion TD, Mugalaasi H, Sims D, Stoodley N, Chung SK, Rees MI, Patel CV, Brueton LA, Layet V, Giuliano F, Kerr MP, Banne E, Meiner V, Lerman-Sagie T, Helbig KL, Kofman LH, Knight KM, Chen W, Kannan V, Hu C, Kusumoto H, Zhang J, Swanger SA, Shaulsky GH, Mirzaa GM, Muir AM, Mefford HC, Dobyns WB, Mackenzie AB, Mullins JGL, Lemke JR, Bahi-Buisson N, Traynelis SF, Iago HF, Pilz DT.

Brain. 2018 Mar 1;141(3):698-712. doi: 10.1093/brain/awx358.

31.

Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.

Leibovitz Z, Mandel H, Falik-Zaccai TC, Ben Harouch S, Savitzki D, Krajden-Haratz K, Gindes L, Tamarkin M, Lev D, Dobyns WB, Lerman-Sagie T.

Eur J Paediatr Neurol. 2018 May;22(3):525-531. doi: 10.1016/j.ejpn.2017.12.012. Epub 2017 Dec 26.

PMID:
29337005
32.

Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.

Steiner JE, McCoy GN, Hess CP, Dobyns WB, Metry DW, Drolet BA, Maheshwari M, Siegel DH.

Am J Med Genet A. 2018 Jan;176(1):48-55. doi: 10.1002/ajmg.a.38523. Epub 2017 Nov 24.

33.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Møller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R.

Brain. 2017 Sep 1;140(9):2322-2336. doi: 10.1093/brain/awx195.

34.

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, Lehman A, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham JM Jr, Hevner R, Dobyns WB, O'Driscoll M, Mirzaa GM.

Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203.

35.

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM.

Am J Hum Genet. 2017 Oct 5;101(4):552-563. doi: 10.1016/j.ajhg.2017.08.017. Epub 2017 Sep 28.

36.

Abstracts from Hydrocephalus 2016.

Adam A, Robison J, Lu J, Jose R, Badran N, Vivas-Buitrago T, Rigamonti D, Sattar A, Omoush O, Hammad M, Dawood M, Maghaslah M, Belcher T, Carson K, Hoffberger J, Jusué Torres I, Foley S, Yasar S, Thai QA, Wemmer J, Klinge P, Al-Mutawa L, Al-Ghamdi H, Carson KA, Asgari M, de Zélicourt D, Kurtcuoglu V, Garnotel S, Salmon S, Balédent O, Lokossou A, Page G, Balardy L, Czosnyka Z, Payoux P, Schmidt EA, Zitoun M, Sevestre MA, Alperin N, Baudracco I, Craven C, Matloob S, Thompson S, Haylock Vize P, Thorne L, Watkins LD, Toma AK, Bechter K, Pong AC, Jugé L, Bilston LE, Cheng S, Bradley W, Hakim F, Ramón JF, Cárdenas MF, Davidson JS, García C, González D, Bermúdez S, Useche N, Mejía JA, Mayorga P, Cruz F, Martinez C, Matiz MC, Vallejo M, Ghotme K, Soto HA, Riveros D, Buitrago A, Mora M, Murcia L, Bermudez S, Cohen D, Dasgupta D, Curtis C, Domínguez L, Remolina AJ, Grijalba MA, Whitehouse KJ, Edwards RJ, Eleftheriou A, Lundin F, Fountas KN, Kapsalaki EZ, Smisson HF, Robinson JS, Fritsch MJ, Arouk W, Garzon M, Kang M, Sandhu K, Baghawatti D, Aquilina K, James G, Thompson D, Gehlen M, Schmid Daners M, Eklund A, Malm J, Gomez D, Guerra M, Jara M, Flores M, Vío K, Moreno I, Rodríguez S, Ortega E, Rodríguez EM, McAllister JP, Guerra MM, Morales DM, Sival D, Jimenez A, Limbrick DD, Ishikawa M, Yamada S, Yamamoto K, Junkkari A, Häyrinen A, Rauramaa T, Sintonen H, Nerg O, Koivisto AM, Roine RP, Viinamäki H, Soininen H, Luikku A, Jääskeläinen JE, Leinonen V, Kehler U, Lilja-Lund O, Kockum K, Larsson EM, Riklund K, Söderström L, Hellström P, Laurell K, Kojoukhova M, Sutela A, Vanninen R, Vanha KI, Timonen M, Rummukainen J, Korhonen V, Helisalmi S, Solje E, Remes AM, Huovinen J, Paananen J, Hiltunen M, Kurki M, Martin B, Loth F, Luciano M, Luikku AJ, Hall A, Herukka SK, Mattila J, Lötjönen J, Alafuzoff I, Jurjević I, Miyajima M, Nakajima M, Murai H, Shin T, Kawaguchi D, Akiba C, Ogino I, Karagiozov K, Arai H, Reis RC, Teixeira MJ, Valêncio CG, da Vigua D, Almeida-Lopes L, Mancini MW, Pinto FCG, Maykot RH, Calia G, Tornai J, Silvestre SSS, Mendes G, Sousa V, Bezerra B, Dutra P, Modesto P, Oliveira MF, Petitto CE, Pulhorn H, Chandran A, McMahon C, Rao AS, Jumaly M, Solomon D, Moghekar A, Relkin N, Hamilton M, Katzen H, Williams M, Bach T, Zuspan S, Holubkov R, Rigamonti A, Clemens G, Sharkey P, Sanyal A, Sankey E, Rigamonti K, Naqvi S, Hung A, Schmidt E, Ory-Magne F, Gantet P, Guenego A, Januel AC, Tall P, Fabre N, Mahieu L, Cognard C, Gray L, Buttner-Ennever JA, Takagi K, Onouchi K, Thompson SD, Thorne LD, Tully HM, Wenger TL, Kukull WA, Doherty D, Dobyns WB, Moran D, Vakili S, Patel MA, Elder B, Goodwin CR, Crawford JA, Pletnikov MV, Xu J, Blitz A, Herzka DA, Guerrero-Cazares H, Quiñones-Hinojosa A, Mori S, Saavedra P, Treviño H, Maitani K, Ziai WC, Eslami V, Nekoovaght-Tak S, Dlugash R, Yenokyan G, McBee N, Hanley DF.

Fluids Barriers CNS. 2017 Jun 7;14(Suppl 1):15. doi: 10.1186/s12987-017-0054-5. No abstract available.

37.

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, van den Berg D, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS.

PLoS Genet. 2017 Aug 1;13(8):e1006923. doi: 10.1371/journal.pgen.1006923. eCollection 2017 Aug.

38.

Early-Life Epilepsies and the Emerging Role of Genetic Testing.

Berg AT, Coryell J, Saneto RP, Grinspan ZM, Alexander JJ, Kekis M, Sullivan JE, Wirrell EC, Shellhaas RA, Mytinger JR, Gaillard WD, Kossoff EH, Valencia I, Knupp KG, Wusthoff C, Keator C, Dobyns WB, Ryan N, Loddenkemper T, Chu CJ, Novotny EJ Jr, Koh S.

JAMA Pediatr. 2017 Sep 1;171(9):863-871. doi: 10.1001/jamapediatrics.2017.1743.

39.

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D.

Am J Hum Genet. 2017 Jul 6;101(1):23-36. doi: 10.1016/j.ajhg.2017.05.010. Epub 2017 Jun 15.

40.

Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS.

PLoS Genet. 2017 May 25;13(5):e1006809. doi: 10.1371/journal.pgen.1006809. eCollection 2017 May. Erratum in: PLoS Genet. 2017 Aug 1;13(8):e1006923.

41.

Lissencephaly: Expanded imaging and clinical classification.

Di Donato N, Chiari S, Mirzaa GM, Aldinger K, Parrini E, Olds C, Barkovich AJ, Guerrini R, Dobyns WB.

Am J Med Genet A. 2017 Jun;173(6):1473-1488. doi: 10.1002/ajmg.a.38245. Epub 2017 Apr 25.

42.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR.

J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4.

43.

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.

44.

Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.

Haldipur P, Dang D, Aldinger KA, Janson OK, Guimiot F, Adle-Biasette H, Dobyns WB, Siebert JR, Russo R, Millen KJ.

Elife. 2017 Jan 16;6. pii: e20898. doi: 10.7554/eLife.20898.

45.

Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.

Brun BN, Mockler SR, Laubscher KM, Stephan CM, Wallace AM, Collison JA, Zimmerman MB, Dobyns WB, Mathews KD.

Neurology. 2017 Feb 14;88(7):623-629. doi: 10.1212/WNL.0000000000003609. Epub 2017 Jan 13.

46.

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR.

Genet Med. 2017 Jun;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10.

47.

Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians.

Moore CA, Staples JE, Dobyns WB, Pessoa A, Ventura CV, Fonseca EB, Ribeiro EM, Ventura LO, Neto NN, Arena JF, Rasmussen SA.

JAMA Pediatr. 2017 Mar 1;171(3):288-295. doi: 10.1001/jamapediatrics.2016.3982. Review.

48.
49.

Fetal brain lesions after subcutaneous inoculation of Zika virus in a pregnant nonhuman primate.

Adams Waldorf KM, Stencel-Baerenwald JE, Kapur RP, Studholme C, Boldenow E, Vornhagen J, Baldessari A, Dighe MK, Thiel J, Merillat S, Armistead B, Tisoncik-Go J, Green RR, Davis MA, Dewey EC, Fairgrieve MR, Gatenby JC, Richards T, Garden GA, Diamond MS, Juul SE, Grant RF, Kuller L, Shaw DW, Ogle J, Gough GM, Lee W, English C, Hevner RF, Dobyns WB, Gale M Jr, Rajagopal L.

Nat Med. 2016 Nov;22(11):1256-1259. doi: 10.1038/nm.4193. Epub 2016 Sep 12.

50.

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

Ravenscroft G, Di Donato N, Hahn G, Davis MR, Craven PD, Poke G, Neas KR, Neuhann TM, Dobyns WB, Laing NG.

Neuromuscul Disord. 2016 Nov;26(11):744-748. doi: 10.1016/j.nmd.2016.09.009. Epub 2016 Sep 19.

PMID:
27751653

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