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Select item 49158611.

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

Salma Ben-Salem, Joseph G. Gleeson, Aisha M. Al-Shamsi, Barira Islam, Jozef Hertecant, Bassam R. Ali, Lihadh Al-Gazali

Metab Brain Dis. Author manuscript; available in PMC 2016 Jun 21.

Published in final edited form as: Metab Brain Dis. 2015 Jun; 30(3): 687–694. Published online 2014 Sep 17. doi: 10.1007/s11011-014-9618-0

PMCID:: PMC4915861

Abstract Article PDF–281K

Select item 114311782.

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features

Alka Malhotra, Alban Ziegler, Li Shu, Renee Perrier, Louise Amlie-Wolf, Elizabeth Wohler, Nara Lygia de Macena Sobreira, Estelle Colin, Adeline Vanderver, Omar Sherbini, Katrien Stouffs, Emmanuel Scalais, Alessandro Serretti, Magalie Barth, Benjamin Navet, Paul Rollier, Hui Xi, Hua Wang, Hainan Zhang, Denise L Perry, Alessandra Ferrarini, Roberto Colombo, Alexander Pepler, Adele Schneider, Kiyotaka Tomiwa, Nobuhiko Okamoto, Naomichi Matsumoto, Noriko Miyake, Ryan Taft, Xiao Mao, Dominique Bonneau

J Med Genet. Author manuscript; available in PMC 2024 Sep 27.

Published in final edited form as: J Med Genet. 2021 Oct; 58(10): 712–716. Published online 2020 Aug 20. doi: 10.1136/jmedgenet-2020-107137

PMCID:: PMC11431178

Abstract Article PDF–462K

Select item 69357533.

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

Nicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, Zhanna Lipatova, Daniela Stanga, Sarah Zhao, Rakhilya Murtazina, Valeriya Gyurkovska, Davut Pehlivan, Tadahiro Mitani, Alper Gezdirici, Jayne Antony, Felicity Collins, Mary J H Willis, Zeynep H Coban Akdemir, Pengfei Liu, Jaya Punetha, Jill V Hunter, Shalini N Jhangiani, Jawid M Fatih, Jill A Rosenfeld, Jennifer E Posey, Richard A Gibbs, Ender Karaca, Sean Massey, Thisara G Ranasinghe, Patrick Sleiman, Chris Troedson, James R Lupski, Michael Sacher, Nava Segev, Hakon Hakonarson, John Christodoulou

Brain. 2020 Jan; 143(1): 112–130. Published online 2019 Dec 3. doi: 10.1093/brain/awz374

Correction in:: Brain. 2020 Mar; 143(3): e24.

PMCID:: PMC6935753

Abstract Article PDF–1.9M

Select item 69063084.

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

Renee Bend, Lior Cohen, Melissa T. Carter, Michael J. Lyons, Dmitriy Niyazov, Mohamad A. Mikati, Samantha K. Rojas, Richard E. Person, Yue Si, Ingrid M. Wentzensen, Regeneron Genetics Center, Erin Torti, Jennifer A. Lee, Kym M. Boycott, Lina Basel-Salmon, Carlos R. Ferreira, Claudia Gonzaga-Jauregui

Eur J Hum Genet. 2020 Jan; 28(1): 76–87. Published online 2019 Aug 8. doi: 10.1038/s41431-019-0487-1

PMCID:: PMC6906308

Abstract Article PDF–2.1M

Select item 65568825.

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

Floor A. Duijkers, Andrew McDonald, Georges E. Janssens, Marco Lezzerini, Aldo Jongejan, Silvana van Koningsbruggen, Wendela G. Leeuwenburgh-Pronk, Marcin W. Wlodarski, Sébastien Moutton, Frédéric Tran-Mau-Them, Christel Thauvin-Robinet, Laurence Faivre, Kristin G. Monaghan, Thomas Smol, Odile Boute-Benejean, Roger L. Ladda, Susan L. Sell, Ange-Line Bruel, Riekelt H. Houtkooper, Alyson W. MacInnes

Am J Hum Genet. 2019 Jun 6; 104(6): 1040–1059. Published online 2019 May 9. doi: 10.1016/j.ajhg.2019.03.024

PMCID:: PMC6556882

Abstract Article PDF–4.1M

Select item 64227096.

A novel splice site mutation in AP1S2 gene for X‐linked mental retardation in a Chinese pedigree and literature review

Liang Huo, Ziteng Teng, Hua Wang, Xueyan Liu

Brain Behav. 2019 Mar; 9(3): e01221. Published online 2019 Feb 4. doi: 10.1002/brb3.1221

PMCID:: PMC6422709

Abstract Article PDF–432K

Select item 61505487.

A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family

Muhammad Imran Naseer, Mahmood Rasool, Sameera Sogaty, Rukhaa Adeel Chaudhary, Haifa Mansour Mansour, Adeel G. Chaudhary, Adel M. Abuzenadah, Mohammad H. Al-Qahtani

Ann Saudi Med. 2017 Mar-Apr; 37(2): 148–153. doi: 10.5144/0256-4947.2017.148

PMCID:: PMC6150548

Abstract Article PDF–721K

Select item 60560058.

A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

Isaac Marin-Valencia, Gaia Novarino, Anide Johansen, Basak Rosti, Mahmoud Y Issa, Damir Musaev, Gifty Bhat, Eric Scott, Jennifer L Silhavy, Valentina Stanley, Rasim O Rosti, Jeremy W Gleeson, Farhad B Imam, Maha S Zaki, Joseph G Gleeson

J Med Genet. Author manuscript; available in PMC 2018 Jul 23.

Published in final edited form as: J Med Genet. 2018 Jan; 55(1): 48–54. Published online 2017 Jun 16. doi: 10.1136/jmedgenet-2017-104627

PMCID:: PMC6056005

Abstract Article PDF–650K

Select item 58389849.

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

Sanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, Matthias Braunisch, Georg F. Hoffmann, Urania Kotzaeridou, Lucia Lichvarova, Mailis Liiv, Christine Makowski, Merle Mandel, Thomas Meitinger, Sander Pajusalu, Richard J. Rodenburg, Dzhamilja Safiulina, Tim M. Strom, Inga Talvik, Annika Vaarmann, Callum Wilson, Allen Kaasik, Tobias B. Haack, Katrin Õunap

Eur J Hum Genet. 2018 Mar; 26(3): 407–419. Published online 2018 Jan 17. doi: 10.1038/s41431-017-0001-6

PMCID:: PMC5838984

Abstract Article PDF–1.8M

Select item 583259910.

Characterization of a Novel Variant in Siblings with Asparagine Synthetase Deficiency

Stephanie J. Sacharow, Elizabeth E. Dudenhausen, Carrie L. Lomelino, Lance Rodan, Christelle Moufawad El Achkar, Heather E. Olson, Casie A Genetti, Pankaj B. Agrawal, Robert McKenna, Michael S. Kilberg

Mol Genet Metab. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: Mol Genet Metab. 2018 Mar; 123(3): 317–325. Published online 2017 Dec 20. doi: 10.1016/j.ymgme.2017.12.433

PMCID:: PMC5832599

Abstract Article PDF–944K

Select item 572684011.

Neurological expression of an inherited translocation of chromosomal 1 and 7

Nabil A. AlMajhad, Amal M. AlHashem, Inesse A. Bouhjar, Brahim M. Tabarki

Neurosciences (Riyadh) 2017 Jan; 22(1): 62–64. doi: 10.17712/nsj.2017.1.20160436

PMCID:: PMC5726840

Abstract Article PDF–392K

Select item 553288212.

BRAT1 Mutations Present with a Spectrum of Clinical Severity

Siddharth Srivastava, Heather E. Olson, Julie S. Cohen, Cynthia S. Gubbels, Sharyn Lincoln, Brigette Tippin Davis, Layla Shahmirzadi, Siddharth Gupta, Jonathan Picker, Timothy W. Yu, David T. Miller, Janet S. Soul, Andrea Poretti, SakkuBai Naidu

Am J Med Genet A. Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: Am J Med Genet A. 2016 Sep; 170(9): 2265–2273. Published online 2016 Jun 9. doi: 10.1002/ajmg.a.37783

PMCID:: PMC5532882

Abstract Article PDF–1.6M

Select item 547736713.

Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB

Alan O'Brien, Christian R Marshall, Susan Blaser, Peter N Ray, Grace Yoon

Eur J Hum Genet. 2017 Jun; 25(6): 775–778. Published online 2017 Apr 5. doi: 10.1038/ejhg.2017.39

PMCID:: PMC5477367

Abstract Article PDF–2.1M

Select item 501104514.

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Estelle Colin, Jens Daniel, Alban Ziegler, Jamal Wakim, Aurora Scrivo, Tobias B. Haack, Salim Khiati, Anne-Sophie Denommé, Patrizia Amati-Bonneau, Majida Charif, Vincent Procaccio, Pascal Reynier, Kyrieckos A. Aleck, Lorenzo D. Botto, Claudia Lena Herper, Charlotte Sophia Kaiser, Rima Nabbout, Sylvie N’Guyen, José Antonio Mora-Lorca, Birgit Assmann, Stine Christ, Thomas Meitinger, Tim M. Strom, Holger Prokisch, The FREX Consortium, Antonio Miranda-Vizuete, Georg F. Hoffmann, Guy Lenaers, Pascale Bomont, Eva Liebau, Dominique Bonneau

Am J Hum Genet. 2016 Sep 1; 99(3): 695–703. Published online 2016 Aug 18. doi: 10.1016/j.ajhg.2016.06.030

PMCID:: PMC5011045

Abstract Article PDF–1.7M

Select item 499103415.

Hülya Maraş-Genç, Emek Uyur-Yalçın, Rasim Özgür Rosti, Joseph G. Gleeson, Bülent Kara

Turk J Pediatr. Author manuscript; available in PMC 2016 Aug 19.

Published in final edited form as: Turk J Pediatr. 2015 May-Jun; 57(3): 286–289.

PMCID:: PMC4991034

Abstract Article PDF–259K

Select item 494727416.

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report

Mohammed Zain Seidahmed, Mustafa A. Salih, Omer B. Abdulbasit, Abdulmohsen Samadi, Khalid Al Hussien, Abeer M. Miqdad, Maha S. Biary, Anas M. Alazami, Ibrahim A. Alorainy, Mohammad M. Kabiraj, Ranad Shaheen, Fowzan S. Alkuraya

BMC Neurol. 2016; 16: 105. Published online 2016 Jul 15. doi: 10.1186/s12883-016-0633-0

PMCID:: PMC4947274

Abstract Article PDF–1.4M

Select item 699050417.

Wwox deficiency leads to neurodevelopmental and degenerative neuropathies and glycogen synthase kinase 3β-mediated epileptic seizure activity in mice

Ya-Yun Cheng, Ying-Tsen Chou, Feng-Jie Lai, Ming-Shiou Jan, Tsung-Hao Chang, I-Ming Jou, Pei-Shiuan Chen, Jui-Yen Lo, Shiang-Suo Huang, Nan-Shan Chang, Yung-Tsai Liou, Po-Chih Hsu, Hui-Ching Cheng, Yee-Shin Lin, Li-Jin Hsu

Acta Neuropathol Commun. 2020; 8: 6. Published online 2020 Jan 30. doi: 10.1186/s40478-020-0883-3

PMCID:: PMC6990504

Abstract Article PDF–3.2M

Select item 488712518.

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

Adi Aran, Nuphar Rosenfeld, Ranit Jaron, Paul Renbaum, Shachar Zuckerman, Hila Fridman, Sharon Zeligson, Reeval Segel, Yoav Kohn, Lara Kamal, Moien Kanaan, Yoram Segev, Eyal Mazaki, Ron Rabinowitz, Ori Shen, Ming Lee, Tom Walsh, Mary Claire King, Suleyman Gulsuner, Ephrat Levy-Lahad

Neurology. 2016 May 24; 86(21): 2016–2024. doi: 10.1212/WNL.0000000000002704

PMCID:: PMC4887125

Abstract Article PDF–838K

Select item 476949919.

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

Stephanie M. Luco, Daniela Pohl, Erick Sell, Justin D. Wagner, David A. Dyment, Hussein Daoud

BMC Med Genet. 2016; 17: 15. Published online 2016 Feb 27. doi: 10.1186/s12881-016-0276-4

PMCID:: PMC4769499

Abstract Article PDF–1.3M

Select item 476637820.

Susan Byrne, Lara Jansen, Jean-Marie U-King-Im, Ata Siddiqui, Hart G. W. Lidov, Istvan Bodi, Luke Smith, Rachael Mein, Thomas Cullup, Carlo Dionisi-Vici, Lihadh Al-Gazali, Mohammed Al-Owain, Zandre Bruwer, Khalid Al Thihli, Rana El-Garhy, Kevin M. Flanigan, Kandamurugu Manickam, Erik Zmuda, Wesley Banks, Ruth Gershoni-Baruch, Hanna Mandel, Efrat Dagan, Annick Raas-Rothschild, Hila Barash, Francis Filloux, Donnell Creel, Michael Harris, Ada Hamosh, Stefan Kölker, Darius Ebrahimi-Fakhari, Georg F. Hoffmann, David Manchester, Philip J. Boyer, Adnan Y. Manzur, Charles Marques Lourenco, Daniela T. Pilz, Arveen Kamath, Prab Prabhakar, Vamshi K. Rao, R. Curtis Rogers, Monique M. Ryan, Natasha J. Brown, Catriona A. McLean, Edith Said, Ulrike Schara, Anja Stein, Caroline Sewry, Laura Travan, Frits A. Wijburg, Martin Zenker, Shehla Mohammed, Manolis Fanto, Mathias Gautel, Heinz Jungbluth

Brain. 2016 Mar; 139(3): 765–781. Published online 2016 Feb 17. doi: 10.1093/brain/awv393

PMCID:: PMC4766378

Abstract Article PDF–1.7M

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