PMC Links for Books (Select 4614458) - PMC

Select item 101523811.

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

Abstract Article PDF–1.1M

Select item 93144842.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 58325993.

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 55095474.

Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype

Jun Sun, Angela J McGillivray, Jason Pinner, Zhihui Yan, Fengxia Liu, Drago Bratkovic, Elizabeth Thompson, Xiuxiu Wei, Huifeng Jiang, Asan, Maya Chopra

JIMD Rep. 2017; 34: 1–9. Published online 2016 Jul 27. doi: 10.1007/8904_2016_3

PMCID:: PMC5509547

Abstract Article PDF–614K

Select item 49472745.

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 49158616.

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 45447537.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 44862708.

Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism

Majid Alfadhel, Muhammad Talal Alrifai, Daniel Trujillano, Hesham Alshaalan, Ali Al Othaim, Shatha Al Rasheed, Hussam Assiri, Abdulrhman A. Alqahtani, Manal Alaamery, Arndt Rolfs, Wafaa Eyaid

JIMD Rep. 2015; 22: 11–16. Published online 2015 Feb 8. doi: 10.1007/8904_2014_405

PMCID:: PMC4486270

Abstract Article PDF–291K

Select item 38203689.

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

Elizabeth K. Ruzzo, José-Mario Capo-Chichi, Bruria Ben-Zeev, David Chitayat, Hanqian Mao, Andrea L. Pappas, Yuki Hitomi, Yi-Fan Lu, Xiaodi Yao, Fadi F. Hamdan, Kimberly Pelak, Haike Reznik-Wolf, Ifat Bar-Joseph, Danit Oz-Levi, Dorit Lev, Tally Lerman-Sagie, Esther Leshinsky-Silver, Yair Anikster, Edna Ben-Asher, Tsviya Olender, Laurence Colleaux, Jean-Claude Décarie, Susan Blaser, Brenda Banwell, Rasesh B. Joshi, Xiao-Ping He, Lysanne Patry, Rachel J. Silver, Sylvia Dobrzeniecka, Mohammad S. Islam, Abul Hasnat, Mark E. Samuels, Dipendra K. Aryal, Ramona M. Rodriguiz, Yong-hui Jiang, William C. Wetsel, James O. McNamara, Guy A. Rouleau, Debra L. Silver, Doron Lancet, Elon Pras, Grant A. Mitchell, Jacques L. Michaud, David B. Goldstein

Neuron. Author manuscript; available in PMC 2014 Oct 16.

Published in final edited form as: Neuron. 2013 Oct 16; 80(2): 10.1016/j.neuron.2013.08.013. doi: 10.1016/j.neuron.2013.08.013

PMCID:: PMC3820368

Abstract Article PDF–1.7M

Select item 30447610.

Molecular cloning of a gene that is necessary for G1 progression in mammalian cells.

A Greco, M Ittmann, C Basilico

Proc Natl Acad Sci U S A. 1987 Mar; 84(6): 1565–1569. doi: 10.1073/pnas.84.6.1565

PMCID:: PMC304476

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