PMC Articles for MedGen (Select 1648339) - PMC

Select item 98307551.

A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures

Jianlong Zhuang, Meihua Xie, Jianfeng Yao, Wanyu Fu, Shuhong Zeng, Yuying Jiang, Yuanbai Wang, Yingjun Xie, Gaoxiong Wang, Chunnuan Chen

BMC Med Genomics. 2023; 16: 3. Published online 2023 Jan 9. doi: 10.1186/s12920-023-01433-x

PMCID:: PMC9830755

Abstract Article PDF–1.2M

Select item 67609342.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Hui Guo, Ying Li, Lu Shen, Tianyun Wang, Xiangbin Jia, Lijuan Liu, Tao Xu, Mengzhu Ou, Kendra Hoekzema, Huidan Wu, Madelyn A. Gillentine, Cenying Liu, Hailun Ni, Pengwei Peng, Rongjuan Zhao, Yu Zhang, Chanika Phornphutkul, Alexander P. A. Stegmann, Carlos E. Prada, Robert J. Hopkin, Joseph T. Shieh, Kirsty McWalter, Kristin G. Monaghan, Peter M. van Hasselt, Koen van Gassen, Ting Bai, Min Long, Lin Han, Yingting Quan, Meilin Chen, Yaowen Zhang, Kuokuo Li, Qiumeng Zhang, Jieqiong Tan, Tengfei Zhu, Yaning Liu, Nan Pang, Jing Peng, Daryl A. Scott, Seema R. Lalani, Mahshid Azamian, Grazia M. S. Mancini, Darius J. Adams, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jonathan Pevsner, Ikeoluwa A. Osei-Owusu, Corrado Romano, Giuseppe Calabrese, Ornella Galesi, Jozef Gecz, Eric Haan, Judith Ranells, Melissa Racobaldo, Magnus Nordenskjold, Suneeta Madan-Khetarpal, Jessica Sebastian, Susie Ball, Xiaobing Zou, Jingping Zhao, Zhengmao Hu, Fan Xia, Pengfei Liu, Jill A. Rosenfeld, Bert B. A. de Vries, Raphael A. Bernier, Zhi-Qing David Xu, Honghui Li, Wei Xie, Robert B. Hufnagel, Evan E. Eichler, Kun Xia

Sci Adv. 2019 Sep; 5(9): eaax2166. Published online 2019 Sep 25. doi: 10.1126/sciadv.aax2166

PMCID:: PMC6760934

Abstract Article PDF–1.6M

Select item 65935133.

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

Joanne Trinh, Krishna Kumar Kandaswamy, Martin Werber, Maximilian E. R. Weiss, Gabriela Oprea, Shivendra Kishore, Katja Lohmann, Arndt Rolfs

J Neurodev Disord. 2019; 11: 11. Published online 2019 Jun 25. doi: 10.1186/s11689-019-9270-4

PMCID:: PMC6593513

Abstract Article PDF–1.1M

Select item 57013044.

Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype–phenotype correlation, and phenotypic expansion of the Bosch–Boonstra–Schaaf optic atrophy syndrome

Charu Kaiwar, Michael T. Zimmermann, Matthew J. Ferber, Zhiyv Niu, Raul A. Urrutia, Eric W. Klee, Dusica Babovic-Vuksanovic

Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6): a002162. doi: 10.1101/mcs.a002162

PMCID:: PMC5701304

Abstract Article PDF–9.1M

Select item 31585665.

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Marwan Shinawi, Pengfei Liu, Sung-Hae L Kang, Joseph Shen, John W Belmont, Daryl A Scott, Frank J Probst, William J Craigen, Brett H Graham, Amber Pursley, Gary Clark, Jennifer Lee, Monica Proud, Amber Stocco, Diana L Rodriguez, Beth A Kozel, Steven Sparagana, Elizabeth R Roeder, Susan G McGrew, Thaddeus W Kurczynski, Leslie J Allison, Stephen Amato, Sarah Savage, Ankita Patel, Pawel Stankiewicz, Arthur L Beaudet, Sau Wai Cheung, James R Lupski

J Med Genet. Author manuscript; available in PMC 2011 Aug 19.

Published in final edited form as: J Med Genet. 2010 May; 47(5): 332–341. Published online 2009 Nov 12. doi: 10.1136/jmg.2009.073015

PMCID:: PMC3158566

Abstract Article PDF–2.0M

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