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Select item 29212851.

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly

Nadezda Maksimova, Kenju Hara, Irina Nikolaeva, Tan Chun-Feng, Tomoaki Usui, Mineo Takagi, Yasushi Nishihira, Akinori Miyashita, Hiroshi Fujiwara, Tokuhide Oyama, Anna Nogovicina, Aitalina Sukhomyasova, Svetlana Potapova, Ryozo Kuwano, Hitoshi Takahashi, Masatoyo Nishizawa, Osamu Onodera

J Med Genet. 2010 Aug; 47(8): 538–548. Published online 2010 Jun 24. doi: 10.1136/jmg.2009.074815

PMCID:: PMC2921285

Abstract Article PDF–1.8M

Select item 100099032.

Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype

Claudia S. Priglinger, Günter Rudolph, Irene Schmid, Pascale Mazzola, Tobias B. Haack, Milda Reith, Katarina Stingl, Nicole Weisschuh

Mol Genet Genomic Med. 2023 Mar; 11(3): e2120. Published online 2022 Dec 8. doi: 10.1002/mgg3.2120

PMCID:: PMC10009903

Abstract Article PDF–2.9M

Select item 60676603.

Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta

M Balasubramanian, J Hurst, S Brown, NJ Bishop, P Arundel, C DeVile, RC Pollitt, L Crooks, D Longman, JF Caceres, F Shackley, S Connolly, JH Payne, AC Offiah, D Hughes, DDD Study, MJ Parker, W Hide, T Skerry

Bone. Author manuscript; available in PMC 2018 Jul 31.

Published in final edited form as: Bone. 2017 Jan; 94: 65–74. Published online 2016 Oct 24. doi: 10.1016/j.bone.2016.10.023

PMCID:: PMC6067660

Abstract Article PDF–2.6M

Select item 10878344.

HDBStat!: A platform-independent software suite for statistical analysis of high dimensional biology data

Prinal Trivedi, Jode W Edwards, Jelai Wang, Gary L Gadbury, Vinodh Srinivasasainagendra, Stanislav O Zakharkin, Kyoungmi Kim, Tapan Mehta, Jacob PL Brand, Amit Patki, Grier P Page, David B Allison

BMC Bioinformatics. 2005; 6: 86. Published online 2005 Apr 6. doi: 10.1186/1471-2105-6-86

PMCID:: PMC1087834

Abstract Article PDF–903K

Select item 63231225.

Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure

Sahoko Ono, Junko Matsuda, Etsuko Watanabe, Hiroto Akaike, Hideto Teranishi, Ippei Miyata, Takanobu Otomo, Yoshito Sadahira, Tatsuki Mizuochi, Hironori Kusano, Masayoshi Kage, Hiroo Ueno, Kenichi Yoshida, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Yasuhide Hayashi, Hirokazu Kanegane, Kazunobu Ouchi

Hum Genome Var. 2019; 6: 2. Published online 2019 Jan 7. doi: 10.1038/s41439-018-0035-5

PMCID:: PMC6323122

Abstract Article PDF–2.1M

Select item 75223126.

Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature

Anna Khoreva, Ekaterina Pomerantseva, Natalia Belova, Inna Povolotskaya, Fedor Konovalov, Vladimir Kaimonov, Alena Gavrina, Sergey Zimin, Dmitrii Pershin, Nataliia Davydova, Vasilii Burlakov, Ekaterina Viktorova, Anna Roppelt, Ekaterina Kalinina, Galina Novichkova, Anna Shcherbina

Front Pediatr. 2020; 8: 577. Published online 2020 Sep 15. doi: 10.3389/fped.2020.00577

PMCID:: PMC7522312

Abstract Article PDF–1.0M

Select item 61338687.

Effect of sweeteners on anthocyanin stability and colour properties of sour cherry and strawberry nectars during storage

Kübra Ertan, Meltem Türkyılmaz, Mehmet Özkan

J Food Sci Technol. 2018 Oct; 55(10): 4346–4355. Published online 2018 Aug 24. doi: 10.1007/s13197-018-3387-4

PMCID:: PMC6133868

Abstract Article PDF–727K

Select item 67184608.

Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature

Silvia Ricci, Lorenzo Lodi, Daniele Serranti, Marco Moroni, Gilda Belli, Giorgia Mancano, Andrea La Barbera, Giulia Forzano, Giusi Mangone, Giuseppe Indolfi, Chiara Azzari

Front Immunol. 2019; 10: 1955. Published online 2019 Aug 27. doi: 10.3389/fimmu.2019.01955

PMCID:: PMC6718460

Abstract Article PDF–711K

Select item 53205439.

GMDR: Versatile Software for Detecting Gene-Gene and Gene-Environ- ment Interactions Underlying Complex Traits

Hai-Ming Xu, Li-Feng Xu, Ting-Ting Hou, Lin-Feng Luo, Guo-Bo Chen, Xi-Wei Sun, Xiang-Yang Lou

Curr Genomics. 2016 Oct; 17(5): 396–402. Published online 2016 Oct. doi: 10.2174/1389202917666160513102612

PMCID:: PMC5320543

Abstract Article PDF–3.8M

Select item 304218810.

Length bias correction for RNA-seq data in gene set analyses

Liyan Gao, Zhide Fang, Kui Zhang, Degui Zhi, Xiangqin Cui

Bioinformatics. 2011 Mar 1; 27(5): 662–669. Published online 2011 Jan 19. doi: 10.1093/bioinformatics/btr005

PMCID:: PMC3042188

Abstract Article PDF–599K

Select item 349312211.

Genotype calling from next-generation sequencing data using haplotype information of reads

Degui Zhi, Jihua Wu, Nianjun Liu, Kui Zhang

Bioinformatics. 2012 Apr 1; 28(7): 938–946. Published online 2012 Jan 27. doi: 10.1093/bioinformatics/bts047

PMCID:: PMC3493122

Abstract Article PDF–301K

Select item 412939712.

A hidden Markov model for haplotype inference for present-absent data of clustered genes using identified haplotypes and haplotype patterns

Jihua Wu, Guo-Bo Chen, Degui Zhi, Nianjun Liu, Kui Zhang

Front Genet. 2014; 5: 267. Published online 2014 Aug 12. doi: 10.3389/fgene.2014.00267

PMCID:: PMC4129397

Abstract Article PDF–2.7M

Select item 191563413.

Homotypic Versus Heterotypic Continuity of Anxiety Symptoms in Young Adolescents: Evidence for Distinctions Between DSM-IV Subtypes

Robert F. Ferdinand, Gwen Dieleman, Johan Ormel, Frank C. Verhulst

J Abnorm Child Psychol. 2007 Jun; 35(3): 325–333. Published online 2007 Jan 17. doi: 10.1007/s10802-006-9093-0

Correction in:: J Abnorm Child Psychol. 2008; 36: 457.

PMCID:: PMC1915634

Abstract Article PDF–221K

Select item 706246214.

Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion

Caroline Lekszas, Ombretta Foresti, Ishier Raote, Daniel Liedtke, Eva-Maria König, Indrajit Nanda, Barbara Vona, Peter De Coster, Rita Cauwels, Vivek Malhotra, Thomas Haaf

eLife. 2020; 9: e51319. Published online 2020 Feb 26. doi: 10.7554/eLife.51319

PMCID:: PMC7062462

Abstract Article PDF–3.3M

Select item 706935915.

Bioinformatic Analysis Identifies Potential Key Genes in the Pathogenesis of Turner Syndrome

Hao Wang, Hui Zhu, Wenjiao Zhu, Yue Xu, Nan Wang, Bing Han, Huaidong Song, Jie Qiao

Front Endocrinol (Lausanne) 2020; 11: 104. Published online 2020 Mar 6. doi: 10.3389/fendo.2020.00104

PMCID:: PMC7069359

Abstract Article PDF–730K

Select item 705712916.

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

Lidia Pezzani, Laura Pezzoli, Alessandra Pansa, Barbara Facchinetti, Daniela Marchetti, Agnese Scatigno, Anna R. Lincesso, Loredana Perego, Monica Pingue, Isabella Pellicioli, Lucia Migliazza, Giovanna Mangili, Lorenzo Galletti, Ursula Giussani, Ezio Bonanomi, Anna Cereda, Maria Iascone

Mol Genet Genomic Med. 2020 Mar; 8(3): e1064. Published online 2020 Jan 14. doi: 10.1002/mgg3.1064

PMCID:: PMC7057129

Abstract Article PDF–592K

Select item 704867917.

Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism

Mona Tahoun, Jennifer C Chandler, Emma Ashton, Scott Haston, Athia Hannan, Ji Soo Kim, Felipe D’Arco, D Bockenhauer, G Anderson, Meei-Hua Lin, Salah Marzouk, Marwa H Saied, Jeffrey H Miner, Mehul T Dattani, Aoife M Waters

J Clin Endocrinol Metab. 2020 Mar; 105(3): 595–599. Published online 2019 Nov 26. doi: 10.1210/clinem/dgz216

PMCID:: PMC7048679

Abstract Article

Select item 704296818.

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

Karen M Knapp, Rosie Sullivan, Jennie Murray, Gregory Gimenez, Pamela Arn, Precilla D'Souza, Alper Gezdirici, William G Wilson, Andrew P Jackson, Carlos Ferreira, Louise S Bicknell

J Med Genet. 2020 Mar; 57(3): 195–202. Published online 2019 Nov 29. doi: 10.1136/jmedgenet-2019-106396

PMCID:: PMC7042968

Abstract Article PDF–1.8M

Select item 703863219.

Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2

Michael Muriello, Alexander Y. Kim, Krista Sondergaard Schatz, Natalie Beck, Meral Gunay-Aygun, Julie E. Hoover-Fong

Am J Med Genet A. Author manuscript; available in PMC 2020 Feb 24.

Published in final edited form as: Am J Med Genet A. 2019 Mar; 179(3): 410–416. Published online 2019 Jan 23. doi: 10.1002/ajmg.a.61037

PMCID:: PMC7038632

Abstract Article PDF–183K

Select item 703468420.

The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review

Dario Cocciadiferro, Emanuele Agolini, Maria Cristina Digilio, Lorenzo Sinibaldi, Marco Castori, Evelina Silvestri, Andrea Dotta, Bruno Dallapiccola, Antonio Novelli

Medicine (Baltimore) 2020 Feb; 99(8): e19169. Published online 2020 Feb 21. doi: 10.1097/MD.0000000000019169