PMC Articles for MedGen (Select 1786150) - PMC

Select item 91628821.

Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A

Anne Slavotinek, Mathilde Lefebvre, Anne-Claire Brehin, Christel Thauvin, Sophie Patrier, Teresa N. Sparks, Mary Norton, Jingwei Yu, Eric Huang

Eur J Med Genet. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Eur J Med Genet. 2022 Feb; 65(2): 104407. Published online 2021 Dec 20. doi: 10.1016/j.ejmg.2021.104407

PMCID:: PMC9162882

Abstract Article PDF–778K

Select item 85624262.

A Novel De Novo Intronic Variant in ITPR1 Causes Gillespie Syndrome

Laura Keehan, Ming-Ming Jiang, Xiaohui Li, Ronit Marom, Hongzheng Dai, David Murdock, Pengfei Liu, Jill Hunter, Jason D. Heaney, Laurie Robak, Lisa Emrick, Tim Lotze, Lauren Blieden, Undiagnosed Diseases Network, Richard Alan Lewis, Alex V. Levin, Jenina Capasso, William Craigen, Jill A. Rosenfeld, Brendan Lee, Lindsay C. Burrage

Am J Med Genet A. Author manuscript; available in PMC 2022 Aug 1.

Published in final edited form as: Am J Med Genet A. 2021 Aug; 185(8): 2315–2324. Published online 2021 May 5. doi: 10.1002/ajmg.a.62232

PMCID:: PMC8562426

Abstract Article PDF–467K

Select item 84760763.

The Neuropathology of 1p36 Deletion Syndrome: An Autopsy Case Series

Kyle S Conway, Fozia Ghafoor, Amy C Gottschalk, Joseph Laakman, Renee L Eigsti, Marcus Nashelsky, John Blau, Marco M Hefti

J Neuropathol Exp Neurol. 2021 Sep; 80(9): 856–860. Published online 2021 Aug 7. doi: 10.1093/jnen/nlab072

PMCID:: PMC8476076

Abstract Article PDF–360K

Select item 76117304.

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

Jack J. Collier, Claire Guissart, Monika Oláhová, Souphatta Sasorith, Florence Piron-Prunier, Fumi Suomi, David Zhang, Nuria Martinez-Lopez, Nicolas Leboucq, Angela Bahr, Silvia Azzarello-Burri, Selina Reich, Ludger Schöls, Tuomo M. Polvikoski, Pierre Meyer, Lise Larrieu, Andrew M. Schaefer, Hessa S. Alsaif, Suad Alyamani, Stephan Zuchner, Inês A. Barbosa, Charu Deshpande, Angela Pyle, Anita Rauch, Matthis Synofzik, Fowzan S. Alkuraya, François Rivier, Mina Ryten, Robert McFarland, Agnès Delahodde, Thomas G. McWilliams, Michel Koenig, Robert W. Taylor

N Engl J Med. Author manuscript; available in PMC 2021 Sep 27.

Published in final edited form as: N Engl J Med. 2021 Jun 24; 384(25): 2406–2417. doi: 10.1056/NEJMoa1915722

PMCID:: PMC7611730

Abstract Article PDF–2.7M

Select item 65811495.

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

Abolfazl Rad, Umut Altunoglu, Rebecca Miller, Reza Maroofian, Kiely N James, Ahmet Okay Çağlayan, Maryam Najafi, Valentina Stanley, Rose-Mary Boustany, Gözde Yeşil, Afsaneh Sahebzamani, Gülhan Ercan-Sencicek, Kolsoum Saeidi, Kaman Wu, Peter Bauer, Zeineb Bakey, Joseph G Gleeson, Natalie Hauser, Murat Gunel, Hulya Kayserili, Miriam Schmidts

J Med Genet. 2019 May; 56(5): 332–339. Published online 2018 Nov 28. doi: 10.1136/jmedgenet-2018-105623

PMCID:: PMC6581149

Abstract Article PDF–1.0M

Select item 54452576.

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Radha Desai, Ann E. Frazier, Romina Durigon, Harshil Patel, Aleck W. Jones, Ilaria Dalla Rosa, Nicole J. Lake, Alison G. Compton, Hayley S. Mountford, Elena J. Tucker, Alice L. R. Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P. van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, Fanny Mochel, Boris Keren, Claude Jardel, Anne M. Turner, P. Ian Andrews, Jan Smeitink, Johannes N. Spelbrink, Simon J. Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombès, Ian J. Holt, David R. Thorburn, Antonella Spinazzola

Brain. 2017 Jun; 140(6): 1595–1610. Published online 2017 May 24. doi: 10.1093/brain/awx094

PMCID:: PMC5445257

Abstract Article PDF–1.5M

Select item 43152907.

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

Guntram Borck, Friederike Hög, Maria Lisa Dentici, Perciliz L. Tan, Nadine Sowada, Ana Medeira, Lucie Gueneau, Holger Thiele, Maria Kousi, Francesca Lepri, Larissa Wenzeck, Ian Blumenthal, Antonio Radicioni, Tito Livio Schwarzenberg, Barbara Mandriani, Rita Fischetto, Deborah J. Morris-Rosendahl, Janine Altmüller, Alexandre Reymond, Peter Nürnberg, Giuseppe Merla, Bruno Dallapiccola, Nicholas Katsanis, Patrick Cramer, Christian Kubisch

Genome Res. 2015 Feb; 25(2): 155–166. doi: 10.1101/gr.176925.114

Correction in:: Genome Res. 2015 Apr; 25(4): 609.

PMCID:: PMC4315290

Abstract Article PDF–1.1M

Select item 39925538.

Congenital disorders of glycosylation with neonatal presentation

Catarina Resende, Carmen Carvalho, Artur Alegria, Dulce Oliveira, Dulce Quelhas, Anabela Bandeira, Elisa Proença

BMJ Case Rep. 2014; 2014: bcr2013010037. Published online 2014 Apr 16. doi: 10.1136/bcr-2013-010037

PMCID:: PMC3992553

Abstract Article PDF–766K

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