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Select item 105157781.

Towards Preclinical Validation of Arbaclofen (R-baclofen) Treatment for 16p11.2 Deletion Syndrome

Brigitta B. Gundersen, William T. O’Brien, Melanie D. Schaffler, Maria N. Schultz, Tatsuya Tsukahara, Sandra Martin Lorenzo, Valerie Nalesso, Alice H. Luo Clayton, Ted Abel, Jacqueline N. Crawley, Sandeep Robert Datta, Yann Herault

Version 2. bioRxiv. Preprint. 2023 Sep 14. doi: 10.1101/2023.05.01.538987

PMCID:: PMC10515778

Abstract Article PDF–2.5M

Select item 102561352.

16p11.2 deletion syndrome

Wendy K Chung, Timothy PL Roberts, Elliott H Sherr, LeeAnne Green Snyder, John E Spiro

Curr Opin Genet Dev. Author manuscript; available in PMC 2023 Jun 9.

Published in final edited form as: Curr Opin Genet Dev. 2021 Jun; 68: 49–56. Published online 2021 Mar 2. doi: 10.1016/j.gde.2021.01.011

PMCID:: PMC10256135

Abstract Article PDF–630K

Select item 80539423.

Overexpression of CD47 is associated with brain overgrowth and 16p11.2 deletion syndrome

Jingling Li, Thomas Brickler, Allison Banuelos, Kristopher Marjon, Anna Shcherbina, Sravani Banerjee, Jing Bian, Cyndhavi Narayanan, Irving L. Weissman, Sundari Chetty

Proc Natl Acad Sci U S A. 2021 Apr 13; 118(15): e2005483118. Published online 2021 Apr 8. doi: 10.1073/pnas.2005483118

PMCID:: PMC8053942

Abstract Article PDF–2.2M

Select item 78953104.

Altered structural brain connectivity involving the dorsal and ventral language pathways in 16p11.2 deletion syndrome

Banu Ahtam, Naira Link, Erikson Hoff, P. Ellen Grant, Kiho Im

Brain Imaging Behav. Author manuscript; available in PMC 2021 Feb 19.

Published in final edited form as: Brain Imaging Behav. 2019 Apr; 13(2): 430–445. doi: 10.1007/s11682-018-9859-3

PMCID:: PMC7895310

Abstract Article PDF–951K

Select item 76084225.

Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome

Lotte Kleinendorst, Lieke M. van den Heuvel, Lidewij Henneman, Mieke M. van Haelst

Eur J Hum Genet. 2020 Sep; 28(9): 1196–1204. Published online 2020 May 15. doi: 10.1038/s41431-020-0644-6

PMCID:: PMC7608422

Abstract Article PDF–431K

Select item 74972866.

Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children

Rana Fetit, David J. Price, Stephen M. Lawrie, Mandy Johnstone

Psychiatr Genet. 2020 Oct; 30(5): 136–140. Published online 2020 Jul 22. doi: 10.1097/YPG.0000000000000259

PMCID:: PMC7497286

Abstract Article PDF–307K

Select item 60219907.

Chemogenetic Activation of Prefrontal Cortex Rescues Synaptic and Behavioral Deficits in a Mouse Model of 16p11.2 Deletion Syndrome

Wei Wang, Benjamin Rein, Freddy Zhang, Tao Tan, Ping Zhong, Luye Qin, Zhen Yan

J Neurosci. 2018 Jun 27; 38(26): 5939–5948. doi: 10.1523/JNEUROSCI.0149-18.2018

PMCID:: PMC6021990

Abstract Article PDF–2.5M

Select item 39252698.

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3

Céline Pebrel-Richard, Anne Debost-Legrand, Eléonore Eymard-Pierre, Victoria Greze, Stéphan Kemeny, Mathilde Gay-Bellile, Laetitia Gouas, Andreï Tchirkov, Philippe Vago, Carole Goumy, Christine Francannet

Eur J Hum Genet. 2014 Mar; 22(3): 369–373. Published online 2013 Jul 17. doi: 10.1038/ejhg.2013.141

PMCID:: PMC3925269

Abstract Article PDF–967K

Select item 110037479.

Dysregulation of mTOR signaling mediates common neurite and migration defects in both idiopathic and 16p11.2 deletion autism neural precursor cells

Smrithi Prem, Bharati Dev, Cynthia Peng, Monal Mehta, Rohan Alibutud, Robert J Connacher, Madeline St Thomas, Xiaofeng Zhou, Paul Matteson, Jinchuan Xing, James H Millonig, Emanuel DiCicco-Bloom

eLife. 2024; 13: e82809. Published online 2024 Mar 25. doi: 10.7554/eLife.82809

PMCID:: PMC11003747

Abstract Article PDF–16M

Select item 1081528610.

Health supervision for children and adolescents with 16p11.2 deletion syndrome

Wendy K. Chung, Faranak F. Herrera, Simon's Searchlight Foundation

Cold Spring Harb Mol Case Stud. 2023 Dec; 9(4): a006316. doi: 10.1101/mcs.a006316

PMCID:: PMC10815286

Abstract Article PDF–1.2M

Select item 1065504411.

Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and the RBFOX1 Gene

Milos Kostic, Joseph J. Raymond, Christophe A. C. Freyre, Beata Henry, Tayfun Tumkaya, Jivan Khlghatyan, Jill Dvornik, Jingyao Li, Jack S. Hsiao, Seon Hye Cheon, Jonathan Chung, Yishan Sun, Ricardo E. Dolmetsch, Kathleen A. Worringer, Robert J. Ihry

ACS Chem Neurosci. 2023 Nov 15; 14(22): 3993–4012. Published online 2023 Oct 30. doi: 10.1021/acschemneuro.3c00442

PMCID:: PMC10655044

Abstract Article PDF–4.6M

Select item 1047388912.

TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome

Guozhuang Li, Alanna Strong, Haojun Wang, Ji-Sun Kim, Deborah Watson, Sen Zhao, Courtney Vaccaro, Erum Hartung, Hakon Hakonarson, Terry Jianguo Zhang, Philip F. Giampietro, Nan Wu

Am J Med Genet A. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: Am J Med Genet A. 2022 Dec; 188(12): 3469–3481. Published online 2022 Sep 26. doi: 10.1002/ajmg.a.62972

PMCID:: PMC10473889

Abstract Article PDF–854K

Select item 930956013.

Resting Energy Expenditure and Body Composition in Children and Adolescents With Genetic, Hypothalamic, Medication-Induced or Multifactorial Severe Obesity

Ozair Abawi, Emma C. Koster, Mila S. Welling, Sanne C.M. Boeters, Elisabeth F. C. van Rossum, Mieke M. van Haelst, Bibian van der Voorn, Cornelis J. de Groot, Erica L. T. van den Akker

Front Endocrinol (Lausanne) 2022; 13: 862817. Published online 2022 Jul 11. doi: 10.3389/fendo.2022.862817

PMCID:: PMC9309560

Abstract Article PDF–1.7M

Select item 928684314.

Effects of glucagon‐like peptide‐1 analogue treatment in genetic obesity: A case series

Mila S. Welling, Cornelis J. de Groot, Lotte Kleinendorst, Bibian van der Voorn, Jan Steven Burgerhart, Eline S. van der Valk, Mieke M. van Haelst, Erica L. T. van den Akker, Elisabeth F. C. van Rossum

Clin Obes. 2021 Dec; 11(6): e12481. Published online 2021 Jul 21. doi: 10.1111/cob.12481