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Items: 1 to 50 of 96

1.

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.

PMID:
30388402
2.

Deletion of Tmtc4 activates the unfolded protein response and causes postnatal hearing loss.

Li J, Akil O, Rouse SL, McLaughlin CW, Matthews IR, Lustig LR, Chan DK, Sherr EH.

J Clin Invest. 2018 Nov 1;128(11):5150-5162. doi: 10.1172/JCI97498. Epub 2018 Oct 15.

3.

Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.

Yuskaitis CJ, Ruzhnikov MRZ, Howell KB, Allen IE, Kapur K, Dlugos DJ, Scheffer IE, Poduri A, Sherr EH.

Pediatr Neurol. 2018 May 7. pii: S0887-8994(18)30346-1. doi: 10.1016/j.pediatrneurol.2018.04.012. [Epub ahead of print]

PMID:
30174244
4.

Cerebrospinal fluid vasopressin and symptom severity in children with autism.

Oztan O, Garner JP, Partap S, Sherr EH, Hardan AY, Farmer C, Thurm A, Swedo SE, Parker KJ.

Ann Neurol. 2018 Oct;84(4):611-615. doi: 10.1002/ana.25314. Epub 2018 Sep 26.

PMID:
30152888
5.

Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction.

Marco EJ, Aitken AB, Nair VP, da Gente G, Gerdes MR, Bologlu L, Thomas S, Sherr EH.

BMC Med Genomics. 2018 May 25;11(1):50. doi: 10.1186/s12920-018-0362-x.

6.

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.

Martin-Brevet S, Rodríguez-Herreros B, Nielsen JA, Moreau C, Modenato C, Maillard AM, Pain A, Richetin S, Jønch AE, Qureshi AY, Zürcher NR, Conus P; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium, Chung WK, Sherr EH, Spiro JE, Kherif F, Beckmann JS, Hadjikhani N, Reymond A, Buckner RL, Draganski B, Jacquemont S.

Biol Psychiatry. 2018 Aug 15;84(4):253-264. doi: 10.1016/j.biopsych.2018.02.1176. Epub 2018 Mar 27.

7.

Arginine vasopressin in cerebrospinal fluid is a marker of sociality in nonhuman primates.

Parker KJ, Garner JP, Oztan O, Tarara ER, Li J, Sclafani V, Del Rosso LA, Chun K, Berquist SW, Chez MG, Partap S, Hardan AY, Sherr EH, Capitanio JP.

Sci Transl Med. 2018 May 2;10(439). pii: eaam9100. doi: 10.1126/scitranslmed.aam9100.

PMID:
29720452
8.

Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions.

Demopoulos C, Kothare H, Mizuiri D, Henderson-Sabes J, Fregeau B, Tjernagel J, Houde JF, Sherr EH, Nagarajan SS.

Sci Rep. 2018 Jan 19;8(1):1274. doi: 10.1038/s41598-018-19751-x.

9.

Genotype-phenotype correlations in individuals with pathogenic RERE variants.

Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, Boddaert N, Cantagrel V, Lewis AM, Scaglia F; Undiagnosed Diseases Network, Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA.

Hum Mutat. 2018 May;39(5):666-675. doi: 10.1002/humu.23400. Epub 2018 Jan 25.

10.

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh CA, Yu TW; IRC5 Consortium, Heron D, Sherr EH, Richards LJ, Depienne C, Leventer RJ, Lockhart PJ.

Hum Mutat. 2018 Jan;39(1):23-39. doi: 10.1002/humu.23361. Epub 2017 Nov 11. Review.

PMID:
29068161
11.

Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia.

Olney NT, Alquezar C, Ramos EM, Nana AL, Fong JC, Karydas AM, Taylor JB, Stephens ML, Argouarch AR, Van Berlo VA, Dokuru DR, Sherr EH, Jicha GA, Dillon WP, Desikan RS, De May M, Seeley WW, Coppola G, Miller BL, Kao AW.

Acta Neuropathol. 2017 Nov;134(5):813-816. doi: 10.1007/s00401-017-1764-0. Epub 2017 Aug 21. No abstract available.

12.

Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2.

Owen JP, Bukshpun P, Pojman N, Thieu T, Chen Q, Lee J, D'Angelo D, Glenn OA, Hunter JV, Berman JI, Roberts TP, Buckner R, Nagarajan SS, Mukherjee P, Sherr EH.

Radiology. 2018 Jan;286(1):217-226. doi: 10.1148/radiol.2017162934. Epub 2017 Aug 8.

PMID:
28786752
13.

Serial prenatal and postnatal MRI of dystroglycanopathy in a patient with familial B3GALNT2 mutation.

Ho ML, Glenn OA, Sherr EH, Strober JB.

Pediatr Radiol. 2017 Jun;47(7):884-888. doi: 10.1007/s00247-017-3821-1. Epub 2017 Mar 16.

PMID:
28303321
14.

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.

Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr EH, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C.

Nat Genet. 2017 Apr;49(4):511-514. doi: 10.1038/ng.3794. Epub 2017 Feb 27.

15.

Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

Nat Genet. 2017 Jan 31;49(2):317. doi: 10.1038/ng0217-317b. No abstract available.

PMID:
28138155
16.

Early Predictors of Impaired Social Functioning in Male Rhesus Macaques (Macaca mulatta).

Sclafani V, Del Rosso LA, Seil SK, Calonder LA, Madrid JE, Bone KJ, Sherr EH, Garner JP, Capitanio JP, Parker KJ.

PLoS One. 2016 Oct 27;11(10):e0165401. doi: 10.1371/journal.pone.0165401. eCollection 2016.

17.

Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum.

Gobius I, Morcom L, Suárez R, Bunt J, Bukshpun P, Reardon W, Dobyns WB, Rubenstein JL, Barkovich AJ, Sherr EH, Richards LJ.

Cell Rep. 2016 Oct 11;17(3):735-747. doi: 10.1016/j.celrep.2016.09.033.

18.

Characterizing cognitive control abilities in children with 16p11.2 deletion using adaptive 'video game' technology: a pilot study.

Anguera JA, Brandes-Aitken AN, Rolle CE, Skinner SN, Desai SS, Bower JD, Martucci WE, Chung WK, Sherr EH, Marco EJ.

Transl Psychiatry. 2016 Sep 20;6(9):e893. doi: 10.1038/tp.2016.178.

19.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29. Erratum in: Nat Genet. 2017 Jan 31;49(2):317.

20.

Reply: ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ.

Brain. 2016 Nov 1;139(11):e65. doi: 10.1093/brain/aww171. No abstract available.

21.

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.

Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco EJ, Green Snyder L, D'Angelo D, Chen Q, Chung WK, Sherr EH; Simons VIP Consortium.

Am J Med Genet A. 2016 Nov;170(11):2943-2955. doi: 10.1002/ajmg.a.37820. Epub 2016 Jul 13.

PMID:
27410714
22.

Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications.

Chang YS, Owen JP, Pojman NJ, Thieu T, Bukshpun P, Wakahiro ML, Marco EJ, Berman JI, Spiro JE, Chung WK, Buckner RL, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P.

Hum Brain Mapp. 2016 Aug;37(8):2833-48. doi: 10.1002/hbm.23211. Epub 2016 May 24.

PMID:
27219475
23.

The Contribution of the Corpus Callosum to Language Lateralization.

Hinkley LB, Marco EJ, Brown EG, Bukshpun P, Gold J, Hill S, Findlay AM, Jeremy RJ, Wakahiro ML, Barkovich AJ, Mukherjee P, Sherr EH, Nagarajan SS.

J Neurosci. 2016 Apr 20;36(16):4522-33. doi: 10.1523/JNEUROSCI.3850-14.2016.

24.

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

Fregeau B, Kim BJ, Hernández-García A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DGM, de Vries BBA, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH.

Am J Hum Genet. 2016 May 5;98(5):963-970. doi: 10.1016/j.ajhg.2016.03.002. Epub 2016 Apr 14.

25.

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.

Marsh AP, Lukic V, Pope K, Bromhead C, Tankard R, Ryan MM, Yiu EM, Sim JC, Delatycki MB, Amor DJ, McGillivray G, Sherr EH, Bahlo M, Leventer RJ, Lockhart PJ.

Neurol Genet. 2015 Jul 16;1(2):e16. doi: 10.1212/NXG.0000000000000014. eCollection 2015 Aug.

26.

Relationship between M100 Auditory Evoked Response and Auditory Radiation Microstructure in 16p11.2 Deletion and Duplication Carriers.

Berman JI, Chudnovskaya D, Blaskey L, Kuschner E, Mukherjee P, Buckner R, Nagarajan S, Chung WK, Sherr EH, Roberts TP.

AJNR Am J Neuroradiol. 2016 Jun;37(6):1178-84. doi: 10.3174/ajnr.A4687. Epub 2016 Feb 11.

27.

A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria.

Bassuk AG, Sherr EH.

J Neurogenet. 2015;29(4):174-7. doi: 10.3109/01677063.2015.1088847. Epub 2016 Jan 4.

28.

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium.

JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123.

29.

Neuroimaging in Aicardi-Goutières syndrome: Biomarkers for a progressive encephalopathy.

Uzgil B, Sherr EH.

Neurology. 2016 Jan 5;86(1):15-6. doi: 10.1212/WNL.0000000000002227. Epub 2015 Nov 18. No abstract available.

PMID:
26581303
30.

Abnormal auditory and language pathways in children with 16p11.2 deletion.

Berman JI, Chudnovskaya D, Blaskey L, Kuschner E, Mukherjee P, Buckner R, Nagarajan S, Chung WK, Spiro JE, Sherr EH, Roberts TP.

Neuroimage Clin. 2015 Aug 1;9:50-7. doi: 10.1016/j.nicl.2015.07.006. eCollection 2015.

31.

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

Esmaeeli Nieh S, Madou MR, Sirajuddin M, Fregeau B, McKnight D, Lexa K, Strober J, Spaeth C, Hallinan BE, Smaoui N, Pappas JG, Burrow TA, McDonald MT, Latibashvili M, Leshinsky-Silver E, Lev D, Blumkin L, Vale RD, Barkovich AJ, Sherr EH.

Ann Clin Transl Neurol. 2015 Jun;2(6):623-35. doi: 10.1002/acn3.198. Epub 2015 May 1.

32.

White Matter Changes of Neurite Density and Fiber Orientation Dispersion during Human Brain Maturation.

Chang YS, Owen JP, Pojman NJ, Thieu T, Bukshpun P, Wakahiro ML, Berman JI, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P.

PLoS One. 2015 Jun 26;10(6):e0123656. doi: 10.1371/journal.pone.0123656. eCollection 2015.

33.

Clinical phenotype of the recurrent 1q21.1 copy-number variant.

Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, Ramocki MB, Evans DW, Spiro JE, Martin CL, Ledbetter DH, Chung WK; Simons VIP consortium.

Genet Med. 2016 Apr;18(4):341-9. doi: 10.1038/gim.2015.78. Epub 2015 Jun 11.

PMID:
26066539
34.

Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication.

Jenkins J 3rd, Chow V, Blaskey L, Kuschner E, Qasmieh S, Gaetz L, Edgar JC, Mukherjee P, Buckner R, Nagarajan SS, Chung WK, Spiro JE, Sherr EH, Berman JI, Roberts TP.

Cereb Cortex. 2016 May;26(5):1957-64. doi: 10.1093/cercor/bhv008. Epub 2015 Feb 11.

PMID:
25678630
35.

Individuals with agenesis of the corpus callosum show sensory processing differences as measured by the sensory profile.

Demopoulos C, Arroyo MS, Dunn W, Strominger Z, Sherr EH, Marco E.

Neuropsychology. 2015 Sep;29(5):751-758. doi: 10.1037/neu0000165. Epub 2014 Dec 22.

36.

Epileptic encephalopathies: new genes and new pathways.

Nieh SE, Sherr EH.

Neurotherapeutics. 2014 Oct;11(4):796-806. doi: 10.1007/s13311-014-0301-2. Review.

37.

Opposing brain differences in 16p11.2 deletion and duplication carriers.

Qureshi AY, Mueller S, Snyder AZ, Mukherjee P, Berman JI, Roberts TP, Nagarajan SS, Spiro JE, Chung WK, Sherr EH, Buckner RL; Simons VIP Consortium.

J Neurosci. 2014 Aug 20;34(34):11199-211. doi: 10.1523/JNEUROSCI.1366-14.2014.

38.

De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.

Tunovic S, Barkovich J, Sherr EH, Slavotinek AM.

Am J Med Genet A. 2014 Jul;164A(7):1744-9. doi: 10.1002/ajmg.a.36450. Epub 2014 May 16.

PMID:
24838796
39.

Aberrant white matter microstructure in children with 16p11.2 deletions.

Owen JP, Chang YS, Pojman NJ, Bukshpun P, Wakahiro ML, Marco EJ, Berman JI, Spiro JE, Chung WK, Buckner RL, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P; Simons VIP Consortium.

J Neurosci. 2014 Apr 30;34(18):6214-23. doi: 10.1523/JNEUROSCI.4495-13.2014.

40.

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.

Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ.

Brain. 2014 Jun;137(Pt 6):1579-613. doi: 10.1093/brain/awt358. Epub 2014 Jan 28. Review.

41.

Mapk/Erk activation in an animal model of social deficits shows a possible link to autism.

Faridar A, Jones-Davis D, Rider E, Li J, Gobius I, Morcom L, Richards LJ, Sen S, Sherr EH.

Mol Autism. 2014 Dec 22;5:57. doi: 10.1186/2040-2392-5-57. eCollection 2014.

42.

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.

Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, Hakonarson H, Dobyns WB, Sherr EH.

PLoS Genet. 2013;9(10):e1003823. doi: 10.1371/journal.pgen.1003823. Epub 2013 Oct 3.

43.

Resting-state networks and the functional connectome of the human brain in agenesis of the corpus callosum.

Owen JP, Li YO, Yang FG, Shetty C, Bukshpun P, Vora S, Wakahiro M, Hinkley LB, Nagarajan SS, Sherr EH, Mukherjee P.

Brain Connect. 2013;3(6):547-62. doi: 10.1089/brain.2013.0175. Epub 2013 Nov 16.

44.

De novo mutations in epileptic encephalopathies.

Epi4K Consortium; Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR.

Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.

45.

Neurodevelopmental disorders and genetic testing: current approaches and future advances.

Sherr EH, Michelson DJ, Shevell MI, Moeschler JB, Gropman AL, Ashwal S.

Ann Neurol. 2013 Aug;74(2):164-70. doi: 10.1002/ana.23950. Review.

PMID:
23775934
46.

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr EH, Dobyns WB.

Am J Med Genet A. 2013 Jul;161A(7):1523-30. doi: 10.1002/ajmg.a.35969. Epub 2013 May 23.

47.

Quantitative trait loci for interhemispheric commissure development and social behaviors in the BTBR T⁺ tf/J mouse model of autism.

Jones-Davis DM, Yang M, Rider E, Osbun NC, da Gente GJ, Li J, Katz AM, Weber MD, Sen S, Crawley J, Sherr EH.

PLoS One. 2013 Apr 15;8(4):e61829. doi: 10.1371/journal.pone.0061829. Print 2013.

48.

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.

Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG.

Am J Hum Genet. 2013 Mar 7;92(3):392-400. doi: 10.1016/j.ajhg.2013.02.004. Epub 2013 Feb 28.

49.

Test-retest reliability of computational network measurements derived from the structural connectome of the human brain.

Owen JP, Ziv E, Bukshpun P, Pojman N, Wakahiro M, Berman JI, Roberts TP, Friedman EJ, Sherr EH, Mukherjee P.

Brain Connect. 2013;3(2):160-76. doi: 10.1089/brain.2012.0121. Erratum in: Brain Connect. 2013;3(3):316.

50.

The structural connectome of the human brain in agenesis of the corpus callosum.

Owen JP, Li YO, Ziv E, Strominger Z, Gold J, Bukhpun P, Wakahiro M, Friedman EJ, Sherr EH, Mukherjee P.

Neuroimage. 2013 Apr 15;70:340-55. doi: 10.1016/j.neuroimage.2012.12.031. Epub 2012 Dec 23.

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