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1.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi, Christian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Sheraz Khan, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Ayça Dilruba Aslanger, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino
Brain. 2023 Dec; 146(12): 5031–5043. Published online 2023 Jul 30. doi: 10.1093/brain/awad257
PMCID:
PMC10690011
ArticlePDF–1.1M
2.
Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report
Karl De Geer, Katarzyna Mascianica, Karin Naess, Eliane Sardh, Anna Lindstrand, Erik Björck
BMC Ophthalmol. 2023; 23: 394. Published online 2023 Sep 26. doi: 10.1186/s12886-023-03136-4
PMCID:
PMC10523780
ArticlePDF–1.3M
3.
Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center
Célia Azevedo Soares, Natália Tkachenko, Emídio Vale Fernandes, Márcia Barreiro, Maria Abreu, Cláudia Falcão Reis, Gabriela Soares, Ana Maria Fortuna, Ana Rita Soares
JBRA Assist Reprod. 2023 Apr-Jun; 27(2): 180–184. doi: 10.5935/1518-0557.20220012
PMCID:
PMC10279443
ArticlePDF–1.3M
4.
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies
Maartje Pennings, Rowdy P. P. Meijer, Monique Gerrits, Jannie Janssen, Rolph Pfundt, Nicole de Leeuw, Christian Gilissen, Thatjana Gardeitchik, Meyke Schouten, Nicol Voermans, Bart van de Warrenburg, Erik-Jan Kamsteeg
Eur J Hum Genet. 2023 Jun; 31(6): 654–662. Published online 2023 Feb 13. doi: 10.1038/s41431-023-01312-0
PMCID:
PMC10250492
ArticlePDF–2.3M
5.
PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis
Rajech Sharkia, Sahil Jain, Muhammad Mahajnah, Clair Habib, Abdussalam Azem, Wasif Al-Shareef, Abdelnaser Zalan
Genes (Basel) 2023 May; 14(5): 1031. Published online 2023 Apr 30. doi: 10.3390/genes14051031
PMCID:
PMC10217894
ArticlePDF–865K
6.
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
Justyna Paprocka, Aleksandra Jezela-Stanek, Robert Śmigiel, Anna Walczak, Hanna Mierzewska, Anna Kutkowska-Kaźmierczak, Rafał Płoski, Ewa Emich-Widera, Barbara Steinborn
Genes (Basel) 2023 May; 14(5): 972. Published online 2023 Apr 25. doi: 10.3390/genes14050972
PMCID:
PMC10217861
ArticlePDF–263K
7.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition
Luciana Musante, Flavio Faletra, Kolja Meier, Hoda Tomoum, Paria Najarzadeh Torbati, Edward Blair, Sally North, Jutta Gärtner, Susann Diegmann, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Ehsan Ghayoor Karimiani, David Murphy, Flora Maria Murru, Caterina Zanus, Andrea Magnolato, Martina La Bianca, Agnese Feresin, Giorgia Girotto, Paolo Gasparini, Paola Costa, Marco Carrozzi
Am J Med Genet A. 2022 Sep; 188(9): 2652–2665. Published online 2022 Jun 7. doi: 10.1002/ajmg.a.62852
Correction in:
Am J Med Genet A. 2023 Mar; 191(3): 910.
PMCID:
PMC9541101
ArticlePDF–2.6M
8.
Molecular diversity and phenotypic pleiotropy of ancient genomic regulatory loci derived from human endogenous retrovirus type H (HERVH) promoter LTR7 and HERVK promoter LTR5_Hs and their contemporary impacts on pathophysiology of Modern Humans
Gennadi V. Glinsky
Mol Genet Genomics. 2022; 297(6): 1711–1740. Published online 2022 Sep 19. doi: 10.1007/s00438-022-01954-7
PMCID:
PMC9483895
ArticlePDF–7.2M
9.
Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability
Amama Ghaffar, Faiza Rasheed, Muhammad Rashid, Hans van Bokhoven, Zubair M. Ahmed, Sheikh Riazuddin, Saima Riazuddin
Eur J Hum Genet. 2022 Feb; 30(2): 243–247. Published online 2021 Nov 8. doi: 10.1038/s41431-021-00968-w
PMCID:
PMC8821644
ArticlePDF–1.8M
10.
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features
Maha S. Zaki, Andrea Accogli, Ghayda Mirzaa, Fatima Rahman, Hiba Mohammed, Gloria Liliana Porras-Hurtado, Stephanie Efthymiou, Shazia Maqbool, Anju Shukla, John B. Vincent, Abrar Hussain, Asif Mir, Christian Beetz, Anika Leubauer, Henry Houlden, Joseph G. Gleeson, Reza Maroofian
Eur J Hum Genet. 2021 Aug; 29(8): 1226–1234. Published online 2021 Jun 24. doi: 10.1038/s41431-021-00910-0
PMCID:
PMC8385073
ArticlePDF–3.0M
11.
The Identification of a Novel Fucosidosis-Associated FUCA1 Mutation: A Case of a 5-Year-Old Polish Girl with Two Additional Rare Chromosomal Aberrations and Affected DNA Methylation Patterns
Agnieszka Domin, Tomasz Zabek, Aleksandra Kwiatkowska, Tomasz Szmatola, Anna Deregowska, Anna Lewinska, Artur Mazur, Maciej Wnuk
Genes (Basel) 2021 Jan; 12(1): 74. Published online 2021 Jan 8. doi: 10.3390/genes12010074
PMCID:
PMC7827884
ArticlePDF–3.6M
12.
KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families
G. E. Rudenskaya, V. A. Kadnikova, O. P. Ryzhkova, L. A. Bessonova, E. L. Dadali, D. S. Guseva, T. V. Markova, D. N. Khmelkova, A. V. Polyakov
BMC Neurol. 2020; 20: 290. Published online 2020 Aug 3. doi: 10.1186/s12883-020-01872-4
PMCID:
PMC7398351
ArticlePDF–1006K
13.
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
Maartje Pennings, Meyke I. Schouten, Judith van Gaalen, Rowdy P. P. Meijer, Susanne T. de Bot, Marjolein Kriek, Christiaan G. J. Saris, Leonard H. van den Berg, Michael A. van Es, Dick M. H. Zuidgeest, Mariet W. Elting, Jiddeke M. van de Kamp, Karin Y. van Spaendonck-Zwarts, Christine de Die-Smulders, Eva H. Brilstra, Corien C. Verschuuren, Bert B. A. de Vries, Jacques Bruijn, Kalliopi Sofou, Floor A. Duijkers, B. Jaeger, Jolanda H. Schieving, Bart P. van de Warrenburg, Erik-Jan Kamsteeg
Eur J Hum Genet. 2020 Jan; 28(1): 40–49. Published online 2019 Sep 5. doi: 10.1038/s41431-019-0497-z
PMCID:
PMC6906463
ArticlePDF–947K
14.
Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report
Carlotta Spagnoli, Susanna Rizzi, Grazia Gabriella Salerno, Daniele Frattini, Carlo Fusco
Ital J Pediatr. 2019; 45: 155. Published online 2019 Dec 3. doi: 10.1186/s13052-019-0752-5
PMCID:
PMC6892221
ArticlePDF–1.5M
15.
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability
Megan McSherry, Katherine E. Masih, Nursel H. Elcioglu, Pelin Celik, Ozge Balci, Filiz Basak Cengiz, Daniella Nunez, Claire J. Sineni, Serhat Seyhan, Defne Kocaoglu, Shengru Guo, Duygu Duman, Guney Bademci, Mustafa Tekin
PLoS One. 2018; 13(11): e0208324. Published online 2018 Nov 30. doi: 10.1371/journal.pone.0208324
PMCID:
PMC6267965
ArticlePDF–1.0M
16.
A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family
Muhammad Imran Naseer, Mahmood Rasool, Sameera Sogaty, Rukhaa Adeel Chaudhary, Haifa Mansour Mansour, Adeel G. Chaudhary, Adel M. Abuzenadah, Mohammad H. Al-Qahtani
Ann Saudi Med. 2017 Mar-Apr; 37(2): 148–153. doi: 10.5144/0256-4947.2017.148
PMCID:
PMC6150548
ArticlePDF–721K
17.
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome
Yonatan Perez, Zamir Shorer, Keren Liani-Leibson, Pauline Chabosseau, Rotem Kadir, Michael Volodarsky, Daniel Halperin, Shiran Barber-Zucker, Hanna Shalev, Ruth Schreiber, Libe Gradstein, Evgenia Gurevich, Raz Zarivach, Guy A. Rutter, Daniel Landau, Ohad S. Birk
Brain. 2017 Apr; 140(4): 928–939. Published online 2017 Feb 9. doi: 10.1093/brain/awx013
PMCID:
PMC5837213
ArticlePDF–1012K
18.
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability
S Riazuddin, M Hussain, A Razzaq, Z Iqbal, M Shahzad, D L Polla, Y Song, E van Beusekom, A A Khan, L Tomas-Roca, M Rashid, M Y Zahoor, W M Wissink-Lindhout, M A R Basra, M Ansar, Z Agha, K van Heeswijk, F Rasheed, M Van de Vorst, J A Veltman, C Gilissen, J Akram, T Kleefstra, M Z Assir, UK10K, D Grozeva, K Carss, F L Raymond, T D O'Connor, S A Riazuddin, S N Khan, Z M Ahmed, A P M de Brouwer, H van Bokhoven, S Riazuddin
Mol Psychiatry. 2017; 22(11): 1604–1614. Published online 2016 Jul 26. doi: 10.1038/mp.2016.109
Correction in:
Mol Psychiatry. 2020; 25(11): 3101–3102.
PMCID:
PMC5658665
ArticlePDF–2.2M
19.
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
ArticlePDF–281K
20.
The Pex1-G844D Mouse: A Model for Mild Human Zellweger Spectrum Disorder
Shandi Hiebler, Tomohiro Masuda, Joseph G. Hacia, Ann B. Moser, Phyllis L. Faust, Anita Liu, Nivedita Chowdhury, Ning Huang, Amanda Lauer, Jean Bennett, Paul A. Watkins, Donald J. Zack, Nancy E. Braverman, Gerald V. Raymond, Steven J. Steinberg
Mol Genet Metab. Author manuscript; available in PMC 2016 Jun 10.
Published in final edited form as: Mol Genet Metab. 2014 Apr; 111(4): 522–532. Published online 2014 Jan 23. doi: 10.1016/j.ymgme.2014.01.008
PMCID:
PMC4901203
ArticlePDF–1.2M

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