PMC Articles for MedGen (Select 1684871) - PMC

Select item 85993761.

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

Luisa Averdunk, Heinrich Sticht, Harald Surowy, Hermann-Josef Lüdecke, Margarete Koch-Hogrebe, Hessa S. Alsaif, Kimia Kahrizi, Hamad Alzaidan, Bashayer S. Alawam, Mohamed Tohary, Cornelia Kraus, Sabine Endele, Erin Wadman, Julie D. Kaplan, Stephanie Efthymiou, Hossein Najmabadi, André Reis, Fowzan S. Alkuraya, Dagmar Wieczorek

J Mol Med (Berl) 2021; 99(12): 1755–1768. Published online 2021 Sep 18. doi: 10.1007/s00109-021-02124-9

Correction in:: J Mol Med (Berl). 2021; 99(12): 1769–1770.

PMCID:: PMC8599376

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Select item 73411772.

Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge

Marco Carraro, Alexander Miguel Monzon, Luigi Chiricosta, Francesco Reggiani, Maria Cristina Aspromonte, Mariagrazia Bellini, Kymberleigh Pagel, Yuxiang Jiang, Predrag Radivojac, Kunal Kundu, Lipika R. Pal, Yizhou Yin, Ivan Limongelli, Gaia Andreoletti, John Moult, Stephen J. Wilson, Panagiotis Katsonis, Olivier Lichtarge, Jingqi Chen, Yaqiong Wang, Zhiqiang Hu, Steven E. Brenner, Carlo Ferrari, Alessandra Murgia, Silvio C.E. Tosatto, Emanuela Leonardi

Hum Mutat. Author manuscript; available in PMC 2020 Sep 1.

Published in final edited form as: Hum Mutat. 2019 Sep; 40(9): 1330–1345. Published online 2019 Jul 3. doi: 10.1002/humu.23823

PMCID:: PMC7341177

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Select item 65512243.

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

Martina Huemer, Regina Mulder-Bleile, Patricie Burda, D. Sean Froese, Terttu Suormala, Bruria Ben Zeev, Patrick Chinnery, Carlo Dionisi-Vici, Dries Dobbelaere, Gülden Gökcay, Johannes Häberle, Alexander Lossos, Eugen Mengel, Andrew Morris, Klary E. Niezen-Koning, Barbara Plecko, Rosella Parini, Dariusz Rokicki, Manuel Schiff, Mareike Schimmel, Adrian Sewell, Wolfgang Sperl, Ute Spiekerkötter, Beat Steinmann, Grazia Tadeucci, Jose Trejo, Friedrich Trefz, Megumi Tsuji, María Antònia Vilaseca, Jürgen-Christoph von Kleist-Retzow, Valerie Walker, Jiri Zeman, Matthias R. Baumgartner, Brian Fowler

J Inherit Metab Dis. Author manuscript; available in PMC 2019 Jun 5.

Published in final edited form as: J Inherit Metab Dis. 2016 Jan 1; 39(1): 115–124. Published online 2015 May 30. doi: 10.1007/s10545-015-9860-6

PMCID:: PMC6551224

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Select item 65495754.

A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants

Jianling Ji, Lishuang Shen, Moiz Bootwalla, Catherine Quindipan, Tatiana Tatarinova, Dennis T. Maglinte, Jonathan Buckley, Gordana Raca, Sulagna C. Saitta, Jaclyn A. Biegel, Xiaowu Gai

Cold Spring Harb Mol Case Stud. 2019 Apr; 5(2): a003756. doi: 10.1101/mcs.a003756

PMCID:: PMC6549575

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Select item 56390745.

A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy

Young Ok Kim, Misun Yun, Jae-Ho Jeong, Seong Min Choi, Seul Kee Kim, Woong Yoon, Chungoo Park, Yeongjin Hong, Young Jong Woo

J Korean Med Sci. 2017 Nov; 32(11): 1885–1890. Published online 2017 Sep 1. doi: 10.3346/jkms.2017.32.11.1885

PMCID:: PMC5639074

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Select item 10518346.

Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

A Smith, C Wiles, E Haan, J McGill, G Wallace, J Dixon, R Selby, A Colley, R Marks, R J Trent

J Med Genet. 1996 Feb; 33(2): 107–112. doi: 10.1136/jmg.33.2.107

PMCID:: PMC1051834

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