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Select item 68215921.

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

Kamal Khan, Michael Zech, Angela T. Morgan, David J. Amor, Matej Skorvanek, Tahir N. Khan, Michael S. Hildebrand, Victoria E. Jackson, Thomas S. Scerri, Matthew Coleman, Kristin A. Rigbye, Ingrid E. Scheffer, Melanie Bahlo, Matias Wagner, Daniel D. Lam, Riccardo Berutti, Petra Havránková, Anna Fečíková, Tim M. Strom, Vladimir Han, Petra Dosekova, Zuzana Gdovinova, Franco Laccone, Muhammad Jameel, Marie R. Mooney, Shahid M. Baig, Robert Jech, Erica E. Davis, Nicholas Katsanis, Juliane Winkelmann

Genet Med. Author manuscript; available in PMC 2019 Nov 8.

Published in final edited form as: Genet Med. 2019 Nov; 21(11): 2532–2542. Published online 2019 Apr 30. doi: 10.1038/s41436-019-0523-0

PMCID:: PMC6821592

Abstract Article PDF–1.3M

Select item 61390632.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Anke Van Dijck, Anneke T. Vulto-van Silfhout, Elisa Cappuyns, Ilse M. van der Werf, Grazia M. Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E. Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, ADNP Consortium, Malin Kvarnung, Tjitske Kleefstra, Bert B.A. de Vries, Sébastien Küry, Jill A. Rosenfeld, Marije E. Meuwissen, Geert Vandeweyer, R. Frank Kooy

Biol Psychiatry. Author manuscript; available in PMC 2019 Aug 15.

Published in final edited form as: Biol Psychiatry. 2019 Feb 15; 85(4): 287–297. Published online 2018 Mar 15. doi: 10.1016/j.biopsych.2018.02.1173

PMCID:: PMC6139063

Abstract Article PDF–571K

Select item 95588383.

Generation of a mouse model of the neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome

Gerardo Zapata, Keqin Yan, David J Picketts

Hum Mol Genet. 2022 Oct 15; 31(20): 3405–3421. Published online 2022 May 23. doi: 10.1093/hmg/ddac119

PMCID:: PMC9558838

Abstract Article PDF–2.1M

Select item 97966744.

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

Kimberley M. Reid, Robert Spaull, Smrithi Salian, Katy Barwick, Esther Meyer, Juan Zhen, Hiromi Hirata, Diba Sheipouri, Hind Benkerroum, Kathleen M. Gorman, Apostolos Papandreou, Michael A. Simpson, Yoshinobu Hirano, Irene Farabella, Maya Topf, Detelina Grozeva, Keren Carss, Martin Smith, Hardev Pall, Peter Lunt, Susanna De Gressi, Erik‐Jan Kamsteeg, Tobias B. Haack, Lucinda Carr, Rita Guerreiro, Jose Bras, Eamonn R. Maher, Richard H. Scott, Robert J. Vandenberg, F. Lucy Raymond, Wui K. Chong, Sniya Sudhakar, Kshitij Mankad, Maarten E. Reith, Philippe M. Campeau, Robert J. Harvey, Manju A. Kurian

Mov Disord. 2022 Oct; 37(10): 2139–2146. Published online 2022 Jul 25. doi: 10.1002/mds.29147

PMCID:: PMC9796674

Abstract Article PDF–6.3M

Select item 100545215.

Biallelic variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, hypomyelination, and spastic paraplegia

Daniel G. Calame, Isabella Herman, Aren E. Marshall, Reza Maroofian, Karina Carvalho Donis, Jawid M. Fatih, Tadahiro Mitani, Haowei Du, Christopher M. Grochowski, Sergio Sousa, Somayeh Bakhtiari, Yoko A. Ito, Clarissa Rocca, Jill V. Hunter, V. Reid Sutton, Lisa T. Emrick, Kym M. Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal W. Saadi, Maha S. Zaki, David L. Skidmore, Matthew Osmond, Thiago Oliveira Silva, Henry Houlden, David Murphy, Ehsan Ghayoorarimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Zeynep Coban-Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N. Jhangiani, Richard A. Gibbs, Jennifer E. Posey, Michael C. Kruer, Kristin D. Kernohan, Jonas A. Morales Saute, Adeline Vanderver, Davut Pehlivan, Dana Marafi, James R. Lupski

Ann Neurol. Author manuscript; available in PMC 2023 Aug 1.

Published in final edited form as: Ann Neurol. 2022 Aug; 92(2): 304–321. Published online 2022 May 28. doi: 10.1002/ana.26381

PMCID:: PMC10054521

Abstract Article PDF–2.7M

Select item 80485306.

Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Kevin E. Glinton, Anna C. E. Hurst, Kevin M. Bowling, Ingrid Cristian, Devon Haynes, Dusit Adstamongkonkul, Oskar Schnappauf, David B. Beck, Carole Brewer, Aditi Shah Parikh, Deepali N. Shinde, Alan Donaldson, Ariel Brautbar, Saskia Koene, Arie van Haeringen, Amélie Piton, Yline Capri, Margherita Furlan, Elena Gardella, Rikke Steensbjerre Møller, Irma van de Beek, Linda Zuurbier, Phillis Lakeman, Allan Bayat, Julian Martinez, Rebecca Signer, Pernille M. Torring, Morten Buch Engelund, Karen W. Gripp, Louise Amlie‐Wolf, Lindsay B. Henderson, Alina T. Midro, Eugeniusz Tarasów, Beata Stasiewicz‐Jarocka, Diana Moskal‐Jasinska, Paul Vos, Felix Boschann, Corinna Stoltenburg, Oliver Puk, Inger‐Lise Mero, Kristine Lossius, Cyril Mignot, Boris Keren, Johanna C. Acosta Guio, Ignacio Briceño, Alberto Gomez, Yaping Yang, Pawel Stankiewicz

Am J Med Genet A. 2021 May; 185(5): 1366–1378. Published online 2021 Jan 31. doi: 10.1002/ajmg.a.62102

PMCID:: PMC8048530

Abstract Article PDF–11M

Select item 54685147.

Association of rare missense variants in the second intracellular loop of Na_V1.7 sodium channels with familial autism

M Rubinstein, A Patowary, I B Stanaway, E McCord, R R Nesbitt, M Archer, T Scheuer, D Nickerson, W H Raskind, E M Wijsman, R Bernier, W A Catterall, Z Brkanac

Mol Psychiatry. 2018 Feb; 23(2): 231–239. Published online 2016 Dec 13. doi: 10.1038/mp.2016.222

PMCID:: PMC5468514

Abstract Article PDF–364K

Select item 101744228.

Analysis of potential biomarkers and immune infiltration in autism based on bioinformatics analysis

Wenjun Cao, Chenghan Luo, Zhaohan Fan, Mengyuan Lei, Xinru Cheng, Zanyang Shi, Fengxia Mao, Qianya Xu, Zhaoqin Fu, Qian Zhang

Medicine (Baltimore) 2023 May 12; 102(19): e33340. Published online 2023 May 12. doi: 10.1097/MD.0000000000033340

PMCID:: PMC10174422

Abstract Article PDF–1.6M

Select item 94495979.

FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder

Christopher W Fell, Astrid Hagelkruys, Ana Cicvaric, Marion Horrer, Lucy Liu, Joshua Shing Shun Li, Johannes Stadlmann, Anton A Polyansky, Stefan Mereiter, Miguel Angel Tejada, Tomislav Kokotović, Venkat Swaroop Achuta, Angelica Scaramuzza, Kimberly A Twyman, Michelle M Morrow, Jane Juusola, Huifang Yan, Jingmin Wang, Margit Burmeister, Biswa Choudhury, Thomas Levin Andersen, Gerald Wirnsberger, Uffe Holmskov, Norbert Perrimon, Bojan Žagrović, Francisco J Monje, Jesper Bonnet Moeller, Josef M Penninger, Vanja Nagy

EMBO Mol Med. 2022 Sep; 14(9): e15829. Published online 2022 Aug 2. doi: 10.15252/emmm.202215829

PMCID:: PMC9449597

Abstract Article PDF–6.9M

Select item 580379710.

Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder

Arjun Krishnan, Ran Zhang, Victoria Yao, Chandra L Theesfeld, Aaron K Wong, Alicja Tadych, Natalia Volfovsky, Alan Packer, Alex Lash, Olga G Troyanskaya

Nat Neurosci. Author manuscript; available in PMC 2018 Feb 8.

Published in final edited form as: Nat Neurosci. 2016 Nov; 19(11): 1454–1462. Published online 2016 Aug 1. doi: 10.1038/nn.4353

PMCID:: PMC5803797

Abstract Article PDF–980K

Select item 486404911.

Merging data from genetic and epigenetic approaches to better understand autistic spectrum disorder

Dennis R Grayson, Alessandro Guidotti

Epigenomics. 2016 Jan; 8(1): 85–104. doi: 10.2217/epi.15.92

PMCID:: PMC4864049

Abstract Article PDF–1009K

Select item 555927312.

Shank3 and IGF1 Restore Synaptic Deficits in Neurons from 22q13 Deletion Syndrome Patients

Aleksandr Shcheglovitov, Olesya Shcheglovitova, Masayuki Yazawa, Thomas Portmann, Rui Shu, Vittorio Sebastiano, Anna Krawisz, Wendy Froehlich, Jonathan A. Bernstein, Joachim F. Hallmayer, Ricardo E. Dolmetsch

Nature. Author manuscript; available in PMC 2017 Aug 16.

Published in final edited form as: Nature. 2013 Nov 14; 503(7475): 267–271. Published online 2013 Oct 16. doi: 10.1038/nature12618

PMCID:: PMC5559273

Abstract Article PDF–2.9M

Select item 983417713.

The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review

Wenyong Wu, Ruimin Chen

Mol Genet Genomic Med. 2023 Jan; 11(1): e2066. Published online 2022 Sep 24. doi: 10.1002/mgg3.2066

PMCID:: PMC9834177

Abstract Article PDF–1.8M

Select item 551595614.

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

Bashayer Al-Mubarak, Mohamed Abouelhoda, Aisha Omar, Hesham AlDhalaan, Mohammed Aldosari, Michael Nester, Hussain. A. Alshamrani, Mohamed El-Kalioby, Ewa Goljan, Renad Albar, Shazia Subhani, Asma Tahir, Sultana Asfahani, Alaa Eskandrani, Ahmed Almusaiab, Amna Magrashi, Jameela Shinwari, Dorota Monies, Nada Al Tassan

Sci Rep. 2017; 7: 5679. Published online 2017 Jul 18. doi: 10.1038/s41598-017-06033-1

PMCID:: PMC5515956

Abstract Article PDF–1.7M

Select item 1009165215.

Single-nucleus gene and gene set expression-based similarity network fusion identifies autism molecular subtypes

Junjie Zhang, Guoli Ji, Xilin Gao, Jinting Guan

BMC Bioinformatics. 2023; 24: 142. Published online 2023 Apr 11. doi: 10.1186/s12859-023-05278-0

PMCID:: PMC10091652

Abstract Article PDF–2.8M

Select item 995042116.

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

Pritesh Jain, Tyne Miller-Fleming, Apostolia Topaloudi, Dongmei Yu, Petros Drineas, Marianthi Georgitsi, Zhiyu Yang, Renata Rizzo, Kirsten R. Müller-Vahl, Zeynep Tumer, Nanette Mol Debes, Andreas Hartmann, Christel Depienne, Yulia Worbe, Pablo Mir, Danielle C. Cath, Dorret I. Boomsma, Veit Roessner, Tomasz Wolanczyk, Piotr Janik, Natalia Szejko, Cezary Zekanowski, Csaba Barta, Zsofia Nemoda, Zsanett Tarnok, Joseph D. Buxbaum, Dorothy Grice, Jeffrey Glennon, Hreinn Stefansson, Bastian Hengerer, Noa Benaroya-Milshtein, Francesco Cardona, Tammy Hedderly, Isobel Heyman, Chaim Huyser, Astrid Morer, Norbert Mueller, Alexander Munchau, Kerstin J. Plessen, Cesare Porcelli, Susanne Walitza, Anette Schrag, Davide Martino, The Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS), The EMTICS collaborative group, Andrea Dietrich, The TS-EUROTRAIN Network, Carol A. Mathews, Jeremiah M. Scharf, Pieter J. Hoekstra, Lea K. Davis, Peristera Paschou

Transl Psychiatry. 2023; 13: 69. Published online 2023 Feb 23. doi: 10.1038/s41398-023-02341-5

PMCID:: PMC9950421

Abstract Article PDF–3.1M

Select item 619574717.

Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles

Conor Keogh, Giorgio Pini, Adam H. Dyer, Stefania Bigoni, Pietro DiMarco, Ilaria Gemo, Richard Reilly, Daniela Tropea

BMC Pediatr. 2018; 18: 333. Published online 2018 Oct 19. doi: 10.1186/s12887-018-1304-7

PMCID:: PMC6195747

Abstract Article PDF–4.0M

Select item 545968918.

X-Chromosome Inactivation Patterns in Females With Prader–Willi Syndrome

Merlin G. Butler, Mariana F. Theodoro, Douglas C. Bittel, Paul J. Kuipers, Daniel J. Driscoll, Zohreh Talebizadeh

Am J Med Genet A. Author manuscript; available in PMC 2017 Jun 5.

Published in final edited form as: Am J Med Genet A. 2007 Mar 1; 143A(5): 469–475. doi: 10.1002/ajmg.a.31506

PMCID:: PMC5459689

Abstract Article PDF–385K

Select item 543802619.

Rare damaging variants in DNA repair and cell cycle pathways are associated with hippocampal and cognitive dysfunction: a combined genetic imaging study in first-episode treatment-naive patients with schizophrenia

Z Yang, M Li, X Hu, B Xiang, W Deng, Q Wang, Y Wang, L Zhao, X Ma, P C Sham, G Northoff, T Li

Transl Psychiatry. 2017 Feb; 7(2): e1028. Published online 2017 Feb 14. doi: 10.1038/tp.2016.291

PMCID:: PMC5438026

Abstract Article PDF–1.2M

Select item 519962920.

Idiopathic autism: Cellular and molecular phenotypes in pluripotent stem cell derived-neurons

Xiaozhuo Liu, Emilie Campanac, Hoi-Hung Cheung, Mark N. Ziats, Lucile Canterel-Thouennon, Margarita Raygada, Vanessa Baxendale, Alan Lap-Yin Pang, Lu Yang, Susan Swedo, Audrey Thurm, Tin-Lap Lee, Kwok-Pui Fung, Wai-Yee Chan, Dax Hoffman, Owen M. Rennert

Mol Neurobiol. Author manuscript; available in PMC 2018 Aug 1.

Published in final edited form as: Mol Neurobiol. 2017 Aug; 54(6): 4507–4523. Published online 2016 Jun 29. doi: 10.1007/s12035-016-9961-8