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Items: 8

1.

Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations.

Cárdenas-de-la-Parra A, Martin-Brevet S, Moreau C, Rodriguez-Herreros B, Fonov VS, Maillard AM, Zürcher NR; 16p11.2 European Consortium, Hadjikhani N, Beckmann JS, Reymond A, Draganski B, Jacquemont S, Louis Collins D.

Neuroimage. 2019 Sep 5:116155. doi: 10.1016/j.neuroimage.2019.116155. [Epub ahead of print]

PMID:
31494251
2.

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.

3.

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.

4.

16p11.2 Locus modulates response to satiety before the onset of obesity.

Maillard AM, Hippolyte L, Rodriguez-Herreros B, Chawner SJ, Dremmel D, Agüera Z, Fagundo AB, Pain A, Martin-Brevet S, Hilbert A, Kurz S, Etienne R, Draganski B, Jimenez-Murcia S, Männik K, Metspalu A, Reigo A, Isidor B, Le Caignec C, David A, Mignot C, Keren B; 16p11.2 European Consortium, van den Bree MB, Munsch S, Fernandez-Aranda F, Beckmann JS, Reymond A, Jacquemont S.

Int J Obes (Lond). 2016 May;40(5):870-6. doi: 10.1038/ijo.2015.247. Epub 2015 Dec 1.

5.

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.

Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA; 16p11.2 European Consortium, van Haelst MM, Andrieux J, Gusella JF, Daly MJ, Beckmann JS, Jacquemont S, Talkowski ME, Katsanis N, Reymond A.

Am J Hum Genet. 2015 May 7;96(5):784-96. doi: 10.1016/j.ajhg.2015.04.002. Epub 2015 Apr 30.

6.

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.

Maillard AM, Ruef A, Pizzagalli F, Migliavacca E, Hippolyte L, Adaszewski S, Dukart J, Ferrari C, Conus P, Männik K, Zazhytska M, Siffredi V, Maeder P, Kutalik Z, Kherif F, Hadjikhani N, Beckmann JS, Reymond A, Draganski B, Jacquemont S; 16p11.2 European Consortium.

Mol Psychiatry. 2015 Feb;20(1):140-7. doi: 10.1038/mp.2014.145. Epub 2014 Nov 25.

7.

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.

Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium, Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium, Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA.

Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16.

PMID:
24939913
8.

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.

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