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Items: 1 to 20 of 43

1.
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature
Christina L. Magyar, David R. Murdock, Lindsay C. Burrage, Hongzheng Dai, Seema R. Lalani, Richard A. Lewis, Yuezhen Lin, Marcela F. Astudillo, Jill A. Rosenfeld, Alyssa A. Tran, James B. Gibson, Undiagnosed Diseases Network, Carlos A. Bacino, Brendan H. Lee, Hsiao-Tuan Chao
Am J Med Genet A. Author manuscript; available in PMC 2024 Jun 4.
Published in final edited form as: Am J Med Genet A. 2022 Jun; 188(6): 1868–1874. Published online 2022 Feb 23. doi: 10.1002/ajmg.a.62704
PMCID:
PMC11149102
AbstractArticlePDF–855K
2.
A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review
Mohammad Jahanpanah, Diana Mokhtari, Haleh Mokaber, Sara Arish, Farzad Ahmadabadi, Behzad Davarnia
Mol Genet Genomic Med. 2024 Apr; 12(4): e2424. Published online 2024 Mar 28. doi: 10.1002/mgg3.2424
PMCID:
PMC10976422
AbstractArticlePDF–1.8M
3.
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
Josefin Johansson, Sarah Lidéus, Carina Frykholm, Cecilia Gunnarsson, Filip Mihalic, Sanna Gudmundsson, Sara Ekvall, Anna-Maja Molin, Mai Pham, Mauno Vihinen, Kristina Lagerstedt-Robinson, Ann Nordgren, Per Jemth, Adam Ameur, Göran Annerén, Maria Wilbe, Marie-Louise Bondeson
Eur J Hum Genet. 2024 Mar; 32(3): 333–341. Published online 2023 Jun 5. doi: 10.1038/s41431-023-01392-y
PMCID:
PMC10923852
AbstractArticlePDF–2.0M
4.
A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China
Hongyan Xie, Shuangzhu Lin, Yang Chen, Wanqi Wang, Yangfan Qi, Jiayi Li, Qiandui Chen, Xiaochun Feng
Medicine (Baltimore) 2023 Jun 16; 102(24): e33890. Published online 2023 Jun 16. doi: 10.1097/MD.0000000000033890
PMCID:
PMC10270510
AbstractArticlePDF–385K
5.
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine
Elizabeth Emma Palmer, Jaclyn Hayner, Rani Sachdev, Michael Cardamone, Tejaswi Kandula, Paula Morris, Kerith-Rae Dias, Jiang Tao, David Miller, Ying Zhu, Rebecca Macintosh, Marcel E. Dinger, Mark J. Cowley, Michael F. Buckley, Tony Roscioli, Ann Bye, Michael S. Kilberg, Edwin P. Kirk
Mol Genet Metab. Author manuscript; available in PMC 2023 May 2.
Published in final edited form as: Mol Genet Metab. 2015 Nov; 116(3): 178–186. Published online 2015 Aug 14. doi: 10.1016/j.ymgme.2015.08.007
PMCID:
PMC10152381
AbstractArticlePDF–1.1M
6.
Metabolomic Profiling of Asparagine Deprivation in Asparagine Synthetase Deficiency Patient-Derived Cells
Mario C. Chang, Stephen J. Staklinski, Vinay R. Malut, Geraldine L. Pierre, Michael S. Kilberg, Matthew E. Merritt
Nutrients. 2023 Apr; 15(8): 1938. Published online 2023 Apr 18. doi: 10.3390/nu15081938
PMCID:
PMC10145675
AbstractArticlePDF–4.7M
7.
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
PURVI MAJETHIA, MICHELLE C DO ROSARIO, PARNEET KAUR, KARANVIR, RAAGUL SHANKAR, SUVASINI SHARMA, SHAHYAN SIDDIQUI, ANJU SHUKLA
Ann Hum Genet. Author manuscript; available in PMC 2023 Mar 7.
Published in final edited form as: Ann Hum Genet. 2022 Mar; 86(2): 94–101. Published online 2021 Dec 8. doi: 10.1111/ahg.12452
PMCID:
PMC9990823
AbstractArticlePDF–1.0M
8.
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency
Stephen J. Staklinski, Sarah Snanoudj, Anne-Marie Guerrot, Catherine Vanhulle, François Lecoquierre, Soumeya Bekri, Michael S. Kilberg
Int J Mol Sci. 2023 Jan; 24(1): 559. Published online 2022 Dec 29. doi: 10.3390/ijms24010559
PMCID:
PMC9820069
AbstractArticlePDF–1.8M
9.
HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders
Yanhong Wang, Xuan Zheng, Chao Feng, Xiaoge Fan, Lei Liu, Pengbo Guo, Zhi Lei, Shiyue Mei
Mol Genet Genomic Med. 2022 Oct; 10(10): e2025. Published online 2022 Aug 19. doi: 10.1002/mgg3.2025
PMCID:
PMC9544218
AbstractArticlePDF–2.6M
10.
Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency
Stephen J. Staklinski, Mario C. Chang, Fang Yu, Kathleen Collins Ruff, David N. Franz, Zhijian Qian, Linda B. Bloom, Matthew E. Merritt, Robert McKenna, Michael S. Kilberg
J Biol Chem. 2022 Sep; 298(9): 102385. Published online 2022 Aug 17. doi: 10.1016/j.jbc.2022.102385
PMCID:
PMC9478401
AbstractArticlePDF–4.0M
11.
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: further delineation of the phenotype and genotype
Mohammed Almannai, Dana Marafi, Ghada M.H. Abdel-Salam, Maha S. Zaki, Ruizhi Duan, Daniel Calame, Isabella Herman, Felix SHA Levesque, Hasnaa M Elbendary, Ibrahim Hegazy, Wendy K. Chung, Haluk Kavus, Kolsoum Saeidi, Reza Maroofian, Aqeela AlHashim, Ali Al-Otaibi, Asma Al Madhi, Hager M. Aboalseood, Ali Alasmari, Henry Houlden, Joseph G Gleeson, Jill V Hunter, Jennifer E. Posey, James R. Lupski, Ayman W. El-Hattab
Clin Genet. Author manuscript; available in PMC 2023 May 1.
Published in final edited form as: Clin Genet. 2022 May; 101(5-6): 530–540. Published online 2022 Apr 12. doi: 10.1111/cge.14132
PMCID:
PMC9359317
AbstractArticlePDF–1.2M
12.
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements
Imane Abdelmoumen, Sandra Jimenez, Ignacio Valencia, Joseph Melvin, Agustin Legido, Mayela M. Diaz-Diaz, Christopher Griffith, Lauren J. Massingham, Melissa Yelton, Janice Rodríguez-Hernández, Rhonda E. Schnur, Laurence E. Walsh, Ana G. Cristancho, Christina A. Bergqvist, Kirsty McWalter, Iain Mathieson, Gillian M. Belbin, Eimear E. Kenny, Xilma R. Ortiz-Gonzalez, Michael C. Schneider
J Child Neurol. Author manuscript; available in PMC 2022 Feb 1.
Published in final edited form as: J Child Neurol. 2021 Feb; 36(2): 93–98. Published online 2020 Sep 15. doi: 10.1177/0883073820953001
PMCID:
PMC8496110
AbstractArticlePDF–498K
13.
Defining the phenotype of FHF1 developmental and epileptic encephalopathy
Marina Trivisano, Alessandro Ferretti, Elizabeth Bebin, Linda Huh, Gaetan Lesca, Aleksandra Siekierska, Ryo Takeguchi, Maryline Carneiro, Luca De Palma, Ilaria Guella, Kazuhiro Haginoya, Ruo Ming Shi, Atsuo Kikuchi, Tomoko Kobayashi, Julien Jung, Lieven Lagae, Mathieu Milh, Marie L Mathieu, Berge A Minassian, Antonio Novelli, Nicola Pietrafusa, Eri Takeshita, Marco Tartaglia, Alessandra Terracciano, Michelle L Thompson, Gregory M Cooper, Federico Vigevano, Laurent Villard, Nathalie Villeneuve, Gunnar M Buyse, Michelle Demos, Ingrid E Scheffer, Nicola Specchio
Epilepsia. Author manuscript; available in PMC 2021 Jun 1.
Published in final edited form as: Epilepsia. 2020 Jul; 61(7): e71–e78. Published online 2020 Jul 9. doi: 10.1111/epi.16582
PMCID:
PMC8168379
AbstractArticlePDF–908K
14.
Defining the phenotypical spectrum associated with variants in TUBB2A
Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, Kathelijn Keymolen, Luc Régal, Romina Romaniello, Dagmar Wieczorek, Tim Matthias Storm, Karin Schaeferhoff, Ute Hehr, Alma Kuechler, Ingeborg Krägeloh-Mann, Tobias B Haack, Esmee Kasteleijn, Rachel Schot, Grazia Maria Simonetta Mancini, Richard Webster, Shekeeb Mohammad, Richard J Leventer, Ghayda Mirzaa, William B Dobyns, Nadia Bahi-Buisson, Marije Meuwissen, Anna C Jansen, Katrien Stouffs
J Med Genet. 2021 Jan; 58(1): 33–40. Published online 2020 Jun 22. doi: 10.1136/jmedgenet-2019-106740
PMCID:
PMC7803914
AbstractArticlePDF–3.0M
15.
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy
Jonathan Humbert, Smrithi Salian, Periklis Makrythanasis, Gabrielle Lemire, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Rami Alasiri, Armand Bottani, Sylviane Hanquinet, Erin Beaver, Jennifer Heeley, Ann C.M. Smith, Seth I. Berger, Stylianos E. Antonarakis, Xiang-Jiao Yang, Jacques Côté, Philippe M. Campeau
Am J Hum Genet. 2020 Sep 3; 107(3): 564–574. Published online 2020 Aug 20. doi: 10.1016/j.ajhg.2020.08.002
PMCID:
PMC7477011
AbstractArticlePDF–1.6M
16.
Tauopathy in the young autistic brain: novel biomarker and therapeutic target
Iris Grigg, Yanina Ivashko-Pachima, Tom Aharon Hait, Vlasta Korenková, Olga Touloumi, Roza Lagoudaki, Anke Van Dijck, Zlatko Marusic, Mirna Anicic, Jurica Vukovic, R. Frank Kooy, Nikolaos Grigoriadis, Illana Gozes
Transl Psychiatry. 2020; 10: 228. Published online 2020 Jul 13. doi: 10.1038/s41398-020-00904-4
PMCID:
PMC7359319
AbstractArticlePDF–1.4M
17.
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
AbstractArticlePDF–3.2M
18.
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
AbstractArticlePDF–1.9M
19.
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
AbstractArticlePDF–2.1M
20.
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination
Sachiko Miyamoto, Mitsuko Nakashima, Tsukasa Ohashi, Takuya Hiraide, Kenji Kurosawa, Toshiyuki Yamamoto, Junichi Takanashi, Hitoshi Osaka, Ken Inoue, Takehiro Miyazaki, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu
Mol Genet Genomic Med. 2019 Aug; 7(8): e814. Published online 2019 Jun 23. doi: 10.1002/mgg3.814
PMCID:
PMC6687661
AbstractArticlePDF–1.1M

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