Results 31 to 40 of about 178,713 (349)

Clinical exome performance for reporting secondary genetic findings. [PDF]

, 2014
BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P, Fortina, Paolo, Kricka, Lj, Londin, E, Park, J. Y., Park, Jy, Sponziello, Marialuisa   +6 more
core   +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

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

Whole Exome Sequencing of Intracranial Aneurysm [PDF]

Stroke, 2013
The risk of intracranial aneurysm (IA) is increased among individuals with first-degree relatives with history of IA.1 A variety of approaches have been used to identify genes that contribute to the risk of IA.2–4 Genomewide association studies have identified and replicated associations on chromosome 4q31.23 ( EDNRA ), 8q12.1 ( SOX17 ), 9p21.3 ...
openaire   +2 more sources

Whole exome sequencing of adenoid cystic carcinoma [PDF]

Journal of Clinical Investigation, 2013
Adenoid cystic carcinoma (ACC) is a rare malignancy that can occur in multiple organ sites and is primarily found in the salivary gland. While the identification of recurrent fusions of the MYB-NFIB genes have begun to shed light on the molecular underpinnings, little else is known about the molecular genetics of this frequently fatal cancer.
Stephens, P.J., Davies, H.R., Mitani, Y., Van Loo, P., Shlien, A., Tarpey, P.S., Papaemmanuil, E., Cheverton, A., Bignell, G.R., Butler, A.P., Gamble, J., Gamble, S., Hardy, C., Hinton, J., Jia, M., Jayakumar, A., Jones, D., Latimer, C., McLaren, S., McBride, D.J., Menzies, A., Mudie, L., Maddison, M., Raine, K., Nik-Zainal, S., O'Meara, S., Teague, J.W., Varela, I., Wedge, D.C., Whitmore, I., Lippman, S.M., McDermott, U., Stratton, M.R., Campbell, P.J., El-Naggar, A.K., Futreal, P.A.   +35 more
openaire   +2 more sources

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

Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. [PDF]

, 2016
Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association.
Dumas, Kevin, Ge, Xiaoyan, Gong, Henry, Grody, Wayne W, Hendriks, Yvonne, Kwok, Pui-Yan, Lee, Hane, Litwin, Jessica, Nelson, Stanley F, Phillips, Joanna J, Shieh, Joseph Tc, Stuurman, Kyra E, Waisfisz, Quinten, Weiss, Marjan M   +13 more
core   +2 more sources

Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy. [PDF]

, 2017
Current cell-free DNA (cfDNA) next generation sequencing (NGS) precision oncology workflows are typically limited to targeted and/or disease-specific applications.
Alva, Ajjai S, Brockman, Scott, Chinnaiyan, Arul M, Chugh, Rashmi, Feng, Felix Y, Grasso, Catherine S, Gursky, Amy, Haakenson, Christine, Henderson, James, Herman, Kirk, Hovelson, Daniel H, Husain, Hatim, Hussain, Maha H, Kamberov, Emmanuel, Kandarpa, Malathi, Kang, Qing, Krauss, John C, Langmore, John, Liu, Chia-Jen, Lonigro, Robert J, Mills, Ryan E, Morgan, Todd M, Quist, Michael J, Ramnath, Nithya, Robinson, Dan, Smith, David C, Talpaz, Moshe, Tesmer, Tim, Tewari, Muneesh, Tomlins, Scott A, Tuck, Missy, Wang, Yugang   +31 more
core   +1 more source

Whole-exome sequencing in familial atrial fibrillation [PDF]

European Heart Journal, 2014
Positional cloning and candidate gene approaches have shown that atrial fibrillation (AF) is a complex disease with familial aggregation. Here, we employed whole-exome sequencing (WES) in AF kindreds to identify variants associated with familial AF.WES was performed on 18 individuals in six modestly sized familial AF kindreds. After filtering very rare
Peter, Weeke, Raafia, Muhammad, Jessica T, Delaney, Christian, Shaffer, Jonathan D, Mosley, Marcia, Blair, Laura, Short, Tanya, Stubblefield, Dan M, Roden, Dawood, Darbar   +9 more
openaire   +2 more sources

Whole-exome Sequencing Study of Hypospadias [PDF]

, 2022
ABSTRACTWhile hypospadias is one of the most common male congenital disorders, the missing heritability contributed by rare variants with larger effects is poorly understood. To systematically explore the variant patterns in the developing of hypospadias, we performed whole exome sequencing (WES) in 191 severe hypospadias cohort and three trios ...
Zhongzhong Chen, Yunping Lei, Richard H. Finnell, Zhixi Su, Yaping Wang, Hua Xie, Fang Chen   +6 more
openaire   +1 more source