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Select item 61606991.

A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia‐seizures syndrome 2 (MCAHS2) family pedigree via whole‐exome sequencing

Junli Yang, Qiong Wang, Qingcui Zhuo, Huiling Tian, Wen Li, Fang Luo, Jinghui Zhang, Dan Bi, Jing Peng, Dong Zhou, Huawei Xin

Mol Genet Genomic Med. 2018 Sep; 6(5): 739–748. Published online 2018 Jul 4. doi: 10.1002/mgg3.428

PMCID:: PMC6160699

Abstract Article PDF–2.0M

Select item 48629612.

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

Marco Savarese, Olimpia Musumeci, Teresa Giugliano, Anna Rubegni, Chiara Fiorillo, Fabiana Fattori, Annalaura Torella, Roberta Battini, Carmelo Rodolico, Aniello Pugliese, Giulio Piluso, Lorenzo Maggi, Adele D'Amico, Claudio Bruno, Enrico Bertini, Filippo Maria Santorelli, Marina Mora, Antonio Toscano, Carlo Minetti, Vincenzo Nigro

Neuromuscul Disord. 2016 Apr-May; 26(4-5): 292–299. doi: 10.1016/j.nmd.2016.02.004

PMCID:: PMC4862961

Abstract Article

Select item 53631733.

A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene

Melikşah Keskin, Nursel Muratoğlu Şahin, Erdal Kurnaz, Elvan Bayramoğlu, Şenay Savaş Erdeve, Zehra Aycan, Semra Çetinkaya

J Clin Res Pediatr Endocrinol. 2017 Mar; 9(1): 91–94. Published online 2017 Mar 1. doi: 10.4274/jcrpe.3238

Correction in:: J Clin Res Pediatr Endocrinol. 2019 Mar; 11(1): 109.

PMCID:: PMC5363173

Abstract Article PDF–391K

Select item 54707614.

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect

Emma A. Webb, Meena Balasubramanian, Nadja Fratzl-Zelman, Wayne A. Cabral, Hannah Titheradge, Atif Alsaedi, Vrinda Saraff, Julie Vogt, Trevor Cole, Susan Stewart, Nicola J. Crabtree, Brandi M. Sargent, Sonja Gamsjaeger, Eleftherios P. Paschalis, Paul Roschger, Klaus Klaushofer, Nick J. Shaw, Joan C. Marini, Wolfgang Högler

J Clin Endocrinol Metab. 2017 Jun 1; 102(6): 2019–2028. Published online 2017 Mar 16. doi: 10.1210/jc.2016-3766

PMCID:: PMC5470761

Abstract Article

Select item 56523805.

Phelan-McDermid syndrome due to SHANK3 mutation in an intellectually disabled adult male: successful treatment with lithium

Jos I M Egger, Willem M A Verhoeven, Renske Groenendijk-Reijenga, Sarina G Kant

BMJ Case Rep. 2017; 2017: bcr2017220778. Published online 2017 Sep 28. doi: 10.1136/bcr-2017-220778

PMCID:: PMC5652380

Abstract Article PDF–642K

Select item 57268196.

A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia

Engin Kose, Uluc Yis, Semra Hiz, Nur Arslan

Neurosciences (Riyadh) 2017 Apr; 22(2): 131–133. doi: 10.17712/nsj.2017.2.20160468

PMCID:: PMC5726819

Abstract Article PDF–305K

Select item 58390377.

Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia

Angela T. Morgan, Leenke van Haaften, Karen van Hulst, Carol Edley, Cristina Mei, Tiong Yang Tan, David Amor, Simon E. Fisher, David A. Koolen

Eur J Hum Genet. 2018 Jan; 26(1): 75–84. Published online 2017 Dec 11. doi: 10.1038/s41431-017-0035-9

PMCID:: PMC5839037

Abstract Article PDF–367K

Select item 61211928.

TNNT1 nemaline myopathy: natural history and therapeutic frontier

Michael D Fox, Vincent J Carson, Han-Zhong Feng, Michael W Lawlor, John T Gray, Karlla W Brigatti, J -P Jin, Kevin A Strauss

Hum Mol Genet. 2018 Sep 15; 27(18): 3272–3282. Published online 2018 Jun 20. doi: 10.1093/hmg/ddy233

PMCID:: PMC6121192

Abstract Article PDF–1.3M

Select item 61489949.

Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications

Chien-Heng Lin, Wei-De Lin, I-Ching Chou, Inn-Chi Lee, Hueng-Chuen Fan, Syuan-Yu Hong

BMC Neurol. 2018; 18: 150. Published online 2018 Sep 20. doi: 10.1186/s12883-018-1157-6

PMCID:: PMC6148994

Abstract Article PDF–1.4M

Select item 442810510.

Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports

Sylvie Serret, Susanne Thümmler, Emmanuelle Dor, Stephanie Vesperini, Andreia Santos, Florence Askenazy

BMC Psychiatry. 2015; 15: 107. Published online 2015 May 7. doi: 10.1186/s12888-015-0490-1

PMCID:: PMC4428105

Abstract Article PDF–633K

Select item 634034011.

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

Danique R.M. Vlaskamp, Benjamin J. Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T. Myers, Mark F. Bennett, Wenshu XiangWei, Danielle Williams, Saskia M. Maas, Alice S. Brooks, Grazia M.S. Mancini, Ingrid M.B.H. van de Laar, Johanna M. van Hagen, Tyson L. Ware, Richard I. Webster, Stephen Malone, Samuel F. Berkovic, Renate M. Kalnins, Federico Sicca, G. Christoph Korenke, Conny M.A. van Ravenswaaij-Arts, Michael S. Hildebrand, Heather C. Mefford, Yuwu Jiang, Renzo Guerrini, Ingrid E. Scheffer

Neurology. 2019 Jan 8; 92(2): e96–e107. doi: 10.1212/WNL.0000000000006729

Correction in:: Neurology. 2019 Nov 12; 93(20): 908.

PMCID:: PMC6340340

Abstract Article PDF–1.3M

Select item 650316612.

Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy

Atsuko Nishikawa, Aritoshi Iida, Shinichiro Hayashi, Mariko Okubo, Yasushi Oya, Gaku Yamanaka, Ikuko Takahashi, Ikuya Nonaka, Satoru Noguchi, Ichizo Nishino

Mol Genet Genomic Med. 2019 May; 7(5): e621. Published online 2019 Mar 18. doi: 10.1002/mgg3.621

PMCID:: PMC6503166

Abstract Article PDF–996K

Select item 654955813.

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures

Nurit Assia Batzir, Pranjali K. Bhagwat, Tanya N. Eble, Pengfei Liu, Christine M. Eng, Sarah H. Elsea, Laurie A. Robak, Fernando Scaglia, Alica M. Goldman, Shweta U. Dhar, Michael F. Wangler

Cold Spring Harb Mol Case Stud. 2019 Jun; 5(3): a003673. doi: 10.1101/mcs.a003673

PMCID:: PMC6549558

Abstract Article PDF–7.3M

Select item 667202614.

Clinical and genetic characterization of individuals with predicted deleterious PHIP variants

Kirsten E. Craddock, Volkan Okur, Ashley Wilson, Erica H. Gerkes, Keri Ramsey, Jennifer M. Heeley, Jane Juusola, Antonio Vitobello, Marie-Noelle Bonnet Dupeyron, Laurence Faivre, Wendy K. Chung

Cold Spring Harb Mol Case Stud. 2019 Aug; 5(4): a004200. doi: 10.1101/mcs.a004200

PMCID:: PMC6672026

Abstract Article PDF–2.7M

Select item 711662815.

A de novo truncating mutation in ASXL1 associated with segmental overgrowth

Stephanie Efthymiou, Vincenzo Salpietro, Erica Pironti, Maria Bonsignore, Valentina Ferrazzoli, Gabriella Di Rosa, Henry Houlden

J Genet. Author manuscript; available in PMC 2021 Jan 25.

Published in final edited form as: J Genet. 2019 Dec 1; 98: 108. Published online 2019 Nov 22. doi: 10.1007/s12041-019-1155-5

PMCID:: PMC7116628

Abstract Article PDF–619K

Select item 714111616.

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)

Emanuela Leonardi, Mariagrazia Bellini, Maria C. Aspromonte, Roberta Polli, Anna Mercante, Claudia Ciaccio, Elisa Granocchio, Elisa Bettella, Ilaria Donati, Elisa Cainelli, Stefania Boni, Stefano Sartori, Chiara Pantaleoni, Clementina Boniver, Alessandra Murgia

Genes (Basel) 2020 Mar; 11(3): 344. Published online 2020 Mar 24. doi: 10.3390/genes11030344

PMCID:: PMC7141116

Abstract Article PDF–1.2M

Select item 731808717.

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2

Patrick R. Blackburn, Matthew J. Schultz, Carrie A. Lahner, Dong Li, Elizabeth Bhoj, Laura J. Fisher, Deborah L. Renaud, Amy Kenney, Niema Ibrahim, Mais Hashem, Mohammed Zain Seidahmed, Linda Hasadsri, Samantha A. Schrier Vergano, Fowzan S. Alkuraya, Brendan C. Lanpher

Ann Clin Transl Neurol. 2020 Jun; 7(6): 1013–1028. Published online 2020 Jun 9. doi: 10.1002/acn3.51074

PMCID:: PMC7318087

Abstract Article PDF–6.3M

Select item 732510518.

A novel VPS13B mutation in Cohen syndrome: a case report and review of literature

Sara Momtazmanesh, Elham Rayzan, Sepideh Shahkarami, Meino Rohlfs, Christoph Klein, Nima Rezaei

BMC Med Genet. 2020; 21: 140. Published online 2020 Jun 30. doi: 10.1186/s12881-020-01075-1

PMCID:: PMC7325105

Abstract Article PDF–658K

Select item 431515319.

Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome

Christian R Marshall, Sandra A Farrell, Donna Cushing, Tara Paton, Tracy L Stockley, Dimitri J Stavropoulos, Peter N Ray, Michael Szego, Lynette Lau, Sergio L Pereira, Ronald D Cohn, Richard F Wintle, Adel M Abuzenadah, Muhammad Abu-Elmagd, Stephen W Scherer

BMC Genomics. 2015; 16(Suppl 1): S12. Published online 2015 Jan 15. doi: 10.1186/1471-2164-16-S1-S12

PMCID:: PMC4315153

Abstract Article PDF–265K

Select item 431095020.

The First Korean Patient with Potocki-Shaffer Syndrome: A Rare Cause of Multiple Exostoses

Young Bae Sohn, Shin-Young Yim, Eun-Hae Cho, Ok-Hwa Kim

J Korean Med Sci. 2015 Feb; 30(2): 214–217. Published online 2015 Jan 21. doi: 10.3346/jkms.2015.30.2.214

PMCID:: PMC4310950

Abstract Article PDF–894K

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