Results 71 to 80 of about 227,823 (308)

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach [PDF]

Journal of Human Genetics, 2015
Whole-exome sequencing (WES) is becoming a standard tool for detecting nucleotide changes, and determining whether WES data can be used for the detection of copy-number variations (CNVs) is of interest. To date, several algorithms have been developed for such analyses, although verification is needed to establish if they fit well for the appropriate ...
Satoko, Miyatake, Eriko, Koshimizu, Atsushi, Fujita, Ryoko, Fukai, Eri, Imagawa, Chihiro, Ohba, Ichiro, Kuki, Megumi, Nukui, Atsushi, Araki, Yoshio, Makita, Tsutomu, Ogata, Mitsuko, Nakashima, Yoshinori, Tsurusaki, Noriko, Miyake, Hirotomo, Saitsu, Naomichi, Matsumoto   +15 more
openaire   +2 more sources

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development [PDF]

, 2017
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects.
A Javed, A McKenna, A-V Gendrel, A-V Gendrel, Abdelaziz Sefiani, Alex C Magee, Alexandra D Gurzau, Asif Javed, Audrey S M Teo, AW Mould, Axel M Hillmer, B Brasseur, Bernd Wollnik, Bruno Reversade, C Bock, Camille Dion, Carine Bonnard, Chalermpong Chatdokmaiprai, Christine Bole-Feysot, Christopher T Gordon, Denise Williams, Dieter Meschede, Duangrurdee Wattanasirichaigoon, F Magdinier, Frédérique Magdinier, GA Van der Auwera, Gökhan Tunçbilek, Gökhan Yigit, H Coker, H Li, H Mishima, Hallvard Reigstad, Hicham Filali, HL Szabo-Rogers, Holger Thiele, Hülya Kayserili, IA Adzhubei, Ilham Ratbi, J Harrow, James M Murphy, Janine Altmüller, JB Tryggestad, JC de Greef, JD Thompson, JE Hewitt, Jeanne Amiel, JM Graham Jr., K Chen, K Chen, K Wang, Kelan Chen, Koh-ichiro Yoshiura, L-C Li, LA Kelley, M Tang, M-C Gaillard, M-C Gaillard, MA DePristo, Marnie E Blewitt, MD Nickell, ME Blewitt, Meriem Fikri, Michael L Cunningham, Mung Kei Kong, Myriam Oufadem, N Rosin, Nadine Rosin, Nawfal Fejjal, Nicola Ragge, Nicolas Lévy, NJ Brideau, Nobuhiko Okamoto, NS Verkaik, P Flicek, P Kumar, Patrick Nitschké, PE Forni, Peter Nürnberg, R Dutta, R-S Nozawa, Rachel Irving, RJLF Lemmers, RJLF Lemmers, RJLF Lemmers, Ruth McGowan, S Faisal Ahmed, S Sacconi, Sabine Sigaudy, Shifeng Xue, Siham Chafai Elalaoui, ST Sherry, Stanislas Lyonnet, Tamara J Beck, Vinod Varghese, Wolfgang Mühlbauer, X Liu, X Liu, X Robert   +97 more
core   +3 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project[S]

Journal of Lipid Research, 2014
HDL-associated paraoxonase-1 (PON1) is an enzyme whose activity is associated with cerebrovascular disease. Common PON1 genetic variants have not been consistently associated with cerebrovascular disease.
Daniel Seung Kim, David R. Crosslin, Paul L. Auer, Stephanie M. Suzuki, Judit Marsillach, Amber A. Burt, Adam S. Gordon, James F. Meschia, Mike A. Nalls, Bradford B. Worrall, W.T. Longstreth, Jr., Rebecca F. Gottesman, Clement E. Furlong, Ulrike Peters, Stephen S. Rich, Deborah A. Nickerson, Gail P. Jarvik   +16 more
doaj   +1 more source

Exome Sequencing of Native Populations From the Amazon Reveals Patterns on the Peopling of South America

Frontiers in Genetics, 2020
Studies on the peopling of South America have been limited by the paucity of sequence data from Native Americans, especially from the east part of the Amazon region.
André M. Ribeiro-dos-Santos, Amanda Ferreira Vidal, Tatiana Vinasco-Sandoval, João Guerreiro, Sidney Santos, Sidney Santos, Ândrea Ribeiro-dos-Santos, Ândrea Ribeiro-dos-Santos, Sandro J. de Souza, Sandro J. de Souza, Sandro J. de Souza   +10 more
doaj   +1 more source

Genetic landscape of autism spectrum disorder in Vietnamese children [PDF]

, 2020
Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited.
Bui, HTP, Dao, LTM, Do, DH, Ha, LT, Le, HTT, Le, VS, Ly, HTT, Mukhopadhyay, A, Nguyen, HT, Nguyen, HT, Nguyen, LT, Tran, KT, Vu, DM   +12 more
core   +2 more sources

Exome Sequencing in Suspected Monogenic Dyslipidemias [PDF]

Circulation: Cardiovascular Genetics, 2015
Background— Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We used this technique in an attempt to identify novel genes underlying monogenic dyslipidemias. Methods and Results— We performed exome sequencing on 213 selected family members
Stitziel, N., Peloso, G., Abifadel, M., CEFALU', Angelo Baldassare, Fouchier, S., Motazacker, M., Tada, H., Larach, D., Awan, Z., Haller, J., Pullinger, C., Varret, M., Rabès, J., NOTO, Davide, Tarugi, P., Kawashiri, M., Nohara, A., Yamagishi, M., Risman, M., Deo, R., Ruel, I., Shendure, J., Nickerson, D., Wilson, J., Rich, S., Gupta, N., Farlow, D., Neale, B., Daly, M., Kane, J., Freeman, M., Genest, J., Rader, D., Mabuchi, H., Kastelein, J., Hovingh, G., AVERNA, Maurizio, Gabriel, S., Boileau, C., Kathiresan, S.   +39 more
openaire   +6 more sources

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source