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Items: 1 to 20 of 35

1.

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
2.

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.

3.

Altered neuronal network and rescue in a human MECP2 duplication model.

Nageshappa S, Carromeu C, Trujillo CA, Mesci P, Espuny-Camacho I, Pasciuto E, Vanderhaeghen P, Verfaillie CM, Raitano S, Kumar A, Carvalho CM, Bagni C, Ramocki MB, Araujo BH, Torres LB, Lupski JR, Van Esch H, Muotri AR.

Mol Psychiatry. 2016 Feb;21(2):178-88. doi: 10.1038/mp.2015.128. Epub 2015 Sep 8.

4.

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
5.

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.

Carvalho CM, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte AB, Vianna-Morgante AM, Krepischi AC, Patel GS, Immken L, Aleck K, Lim C, Cheung SW, Rosenberg C, Katsanis N, Lupski JR.

Am J Hum Genet. 2014 Nov 6;95(5):565-78. doi: 10.1016/j.ajhg.2014.10.006. Epub 2014 Nov 6.

6.

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy.

Campbell IM, Rao M, Arredondo SD, Lalani SR, Xia Z, Kang SH, Bi W, Breman AM, Smith JL, Bacino CA, Beaudet AL, Patel A, Cheung SW, Lupski JR, Stankiewicz P, Ramocki MB, Shaw CA.

PLoS Genet. 2013;9(9):e1003797. doi: 10.1371/journal.pgen.1003797. Epub 2013 Sep 26.

7.

Replicative mechanisms for CNV formation are error prone.

Carvalho CM, Pehlivan D, Ramocki MB, Fang P, Alleva B, Franco LM, Belmont JW, Hastings PJ, Lupski JR.

Nat Genet. 2013 Nov;45(11):1319-26. doi: 10.1038/ng.2768. Epub 2013 Sep 22.

8.

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR.

Am J Hum Genet. 2013 Aug 8;93(2):197-210. doi: 10.1016/j.ajhg.2013.05.027. Epub 2013 Jun 27. Erratum in: Am J Hum Genet. 2013 Aug 8;93(2):405.

9.

Brief report: regression timing and associated features in MECP2 duplication syndrome.

Peters SU, Hundley RJ, Wilson AK, Carvalho CM, Lupski JR, Ramocki MB.

J Autism Dev Disord. 2013 Oct;43(10):2484-90. doi: 10.1007/s10803-013-1796-9.

PMID:
23456562
10.

Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses.

Yang T, Ramocki MB, Neul JL, Lu W, Roberts L, Knight J, Ward CS, Zoghbi HY, Kheradmand F, Corry DB.

Sci Transl Med. 2012 Dec 5;4(163):163ra158. doi: 10.1126/scitranslmed.3004430.

11.

The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism.

Peters SU, Hundley RJ, Wilson AK, Warren Z, Vehorn A, Carvalho CM, Lupski JR, Ramocki MB.

Autism Res. 2013 Feb;6(1):42-50. doi: 10.1002/aur.1262. Epub 2012 Nov 20.

12.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium.

J Med Genet. 2012 Oct;49(10):660-8. doi: 10.1136/jmedgenet-2012-101203. Erratum in: J Med Genet. 2014 Jul;51(7):478.

13.

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.

Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SW.

BMC Med Genet. 2012 Aug 10;13:71. doi: 10.1186/1471-2350-13-71.

14.

Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders.

Simons Vip Consortium.

Neuron. 2012 Mar 22;73(6):1063-7. doi: 10.1016/j.neuron.2012.02.014. Epub 2012 Mar 21.

15.

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.

Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR.

Nat Genet. 2011 Oct 2;43(11):1074-81. doi: 10.1038/ng.944.

16.

Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.

Murdock DR, Clark GD, Bainbridge MN, Newsham I, Wu YQ, Muzny DM, Cheung SW, Gibbs RA, Ramocki MB.

Am J Med Genet A. 2011 Sep;155A(9):2071-7. doi: 10.1002/ajmg.a.34165. Epub 2011 Aug 10.

17.

Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2.

Ramocki MB, Scaglia F, Stankiewicz P, Belmont JW, Jones JY, Clark GD.

Am J Med Genet A. 2011 Jul;155A(7):1574-80. doi: 10.1002/ajmg.a.34029. Epub 2011 Jun 2.

18.

TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.

Campbell IM, Kolodziejska KE, Quach MM, Wolf VL, Cheung SW, Lalani SR, Ramocki MB, Stankiewicz P.

Am J Med Genet A. 2011 Jun;155A(6):1442-7. doi: 10.1002/ajmg.a.34015. Epub 2011 May 12.

19.

Bilateral in utero cerebellar infarction.

Ansari SA, Hunter JV, Nassif LM, Clark GD, Ramocki MB.

J Child Neurol. 2011 Jul;26(7):895-9. doi: 10.1177/0883073810393961. Epub 2011 Jan 24.

20.

MECP2 duplications in six patients with complex sex chromosome rearrangements.

Breman AM, Ramocki MB, Kang SH, Williams M, Freedenberg D, Patel A, Bader PI, Cheung SW.

Eur J Hum Genet. 2011 Apr;19(4):409-15. doi: 10.1038/ejhg.2010.195. Epub 2010 Dec 1. Erratum in: Eur J Hum Genet. 2011 Oct;19(10):1110.

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