Results 41 to 50 of about 1,021,105 (352)

Diagnostic Utility of Exome Sequencing for Kidney Disease

New England Journal of Medicine, 2019
BACKGROUND Exome sequencing is emerging as a first‐line diagnostic method in some clinical disciplines, but its usefulness has yet to be examined for most constitutional disorders in adults, including chronic kidney disease, which affects more than 1 in ...
E. Groopman, M. Marasà, Sophia R. Cameron-Christie, S. Petrovski, V. Aggarwal, Hila Milo-Rasouly, Yi-fu Li, Junying Zhang, J. Nestor, P. Krithivasan, Wan Yee Lam, A. Mitrotti, Stacy E. Piva, B. H. Kil, Debanjana Chatterjee, Rachel E. Reingold, Drew Bradbury, Michael DiVecchia, Holly J. Snyder, Xueru Mu, Karla Mehl, Olivia Balderes, D. Fasel, C. Weng, J. Radhakrishnan, P. Canetta, G. Appel, A. Bomback, Wooin Ahn, N. Uy, S. Alam, D. Cohen, R. Crew, G. Dube, Maya K. Rao, S. Kamalakaran, Brett R Copeland, Z. Ren, Joshua Bridgers, C. Malone, C. Mebane, Neha Dagaonkar, B. Fellström, C. Haefliger, S. Mohan, S. Sanna-Cherchi, K. Kiryluk, J. Fleckner, R. March, A. Platt, D. Goldstein, A. Gharavi   +51 more
semanticscholar   +1 more source

Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer. [PDF]

, 2013
We sequenced 11 germline exomes from five families with familial pancreatic cancer (FPC). One proband had a germline nonsense variant in ATM with somatic loss of the variant allele. Another proband had a nonsense variant in PALB2 with somatic loss of the
Al-Sukhni, Wigdan, Borgida, Ayelet E, Gallinger, Steven, Grant, Robert C, Holter, Spring, Kanji, Zaheer S, McPherson, John D, McPherson, Treasa, Peltekova, Vanya, Serra, Stefano, Stein, Lincoln D, Trinh, Quang M, Whelan, Emily   +12 more
core   +3 more sources

Delineation of Mitochondrial DNA Variants From Exome Sequencing Data and Association of Haplogroups With Obesity in Kuwait

Frontiers in Genetics, 2021
Background/ObjectivesWhole-exome sequencing is a valuable tool to determine genetic variations that are associated with rare and common health conditions.
Mohammed Dashti, Hussain Alsaleh, Muthukrishnan Eaaswarkhanth, Sumi Elsa John, Rasheeba Nizam, Motasem Melhem, Prashantha Hebbar, Prem Sharma, Fahd Al-Mulla, Thangavel Alphonse Thanaraj   +9 more
doaj   +1 more source

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Genetics in Medicine, 2019
For neurodevelopmental disorders (NDDs), etiological evaluation can be a diagnostic odyssey involving numerous genetic tests, underscoring the need to develop a streamlined algorithm maximizing molecular diagnostic yield for this clinical indication. Our
S. Srivastava, Jamie A. Love-Nichols, K. Dies, D. Ledbetter, C. Martin, W. Chung, H. Firth, Thomas W. Frazier, R. Hansen, L. Prock, Han Brunner, N. Hoang, S. Scherer, M. Sahin, David T. Miller   +14 more
semanticscholar   +1 more source

Severe congenital microcephaly with AP4M1 mutation, a case report [PDF]

, 2017
Background: Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of ...
Abramowicz, Marc, David, Philippe, Desmyter, Laurence, Duerinckx, Sarah, Perazzolo, Camille, Pirson, Isabelle, Verhelst, Helene   +6 more
core   +2 more sources

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification. [PDF]

, 2020
Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To date, mutations in five genes have
A. Athanasiou-Fragkouli, A. Begtrup, A. Bisgin, A. Carr, A. Pittman, A. Richard-Loendt, A. Verrotti, A.M. Ruiz, B. Cormand, B. Garavaglia, B. Kalmar, B. O&apos, B. Perez-Duenas, B.M. Karashova, B.M. Sanchez, C. Beetz, C. Macmillan, C. Scuderi, D. Avdjieva, D. Timmann, E. Borgione, E. Dardiotis, E. Torti, E.Z. Papanicolaou, F. Al-Mutairi, F. Launchbury, G. Di Rosa, G. Heimer, G. Hotton, G. Koutsis, G. Marseglia, G. McDonnell, G. Morello, H. Houlden, H. Kathom, H. Sherifa, I. Al-Khawaja, J. Althonayan, J. McKinley, J. Mine, J.H. Livingston, J.R. Mendes de Oliveira, J.S. Goraya, L. Arning, L. Greensmith, L.V. Schottlaender, M. Aurrand-Lions, M. Breza, M. de Grandis, M. Garcia-Silva, M. Pineda-Marfa, M. Vikelis, M. Zollo, M.D. Ferrari, M.P.M. Soutar, N.N. Rana, O. Atawneh, O. Swayne, P. Giunti, P. Striano, P. Veggiotti, P.J. Morrison, R. Abeti, R. Boles, R. Forbes, R. Maroofian, R. Tincheva, S. Banu, S. Boesch, S. Brandner, S. Efthymiou, S. Groppa, S. Ibrahim, S. Khan, S. Kirmani, S. Mangano, S. Maqbool, S. Papacostas, S. Portaro, S. Savasta, S. Tug Bozdogan, T. Stojkovic, T. Sultan, V. Chelban, W. Nachbauer, Y.A. Dauvilliers, Z. Jaunmuktane   +86 more
core   +8 more sources

Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma

Nature Communications, 2021
TFE3-translocation renal cell carcinoma (TFE3-tRCC) is a rare and heterogeneous subtype of kidney cancer with no standard treatment for advanced disease.
G. Sun, Junru Chen, Jiayu Liang, X. Yin, Meng-Ni Zhang, Jin Yao, N. He, C. Armstrong, Linmao Zheng, Xingming Zhang, Sha Zhu, Xiaomeng Sun, Xiaoxia Yang, W. Zhao, Banghua Liao, Xiuyi Pan, L. Nie, Ling Yang, Yuntian Chen, Jinge Zhao, Haoran Zhang, Jindong Dai, Yali Shen, Jiyan Liu, Rui Huang, Jiandong Liu, Zhipeng Wang, Y. Ni, Q. Wei, Xiang Li, Qiao Zhou, Huang Haojie, Zhenhua Liu, P. Shen, N. Chen, H. Zeng   +35 more
semanticscholar   +1 more source

A Pilot Study Comparing HPV-Positive and HPV-Negative Head and Neck Squamous Cell Carcinomas by Whole Exome Sequencing. [PDF]

, 2012
Background. Next-generation sequencing of cancers has identified important therapeutic targets and biomarkers. The goal of this pilot study was to compare the genetic changes in a human papillomavirus- (HPV-)positive and an HPV-negative head and neck ...
Barrett, John W, Basmaji, John, Boutros, Paul, Chan-Seng-Yue, Michelle, Dhaliwal, Sandeep, Dowthwaite, Samuel, Franklin, Jason H, Fung, Kevin, Koropatnick, James, Kwan, Keith, Lambin, Philippe, Mymryk, Joe S, Nichols, Anthony C, Palma, David A, Starmans, Maud HW, Szeto, Christopher CT, Todorovic, Biljana, Wehrli, Bret, Xu, Wei, Yoo, John   +19 more
core   +3 more sources

Diagnostic utility of exome sequencing for inherited peripheral neuropathies

Нервно-мышечные болезни, 2020
Introduction. Hereditary motor and sensory neuropathies, a highly genetic heterogeneous group of disorders, have a phenotype caused by peripheral nerve damage.Purpose of the study – to assess the extent of genetic heterogeneity of hereditary motor and ...
O. A. Shchagina, O. P. Ryzhkova, A. L. Chukhrova, T. V. Milovidova, P. Gundorova, O. L. Mironovich, A. A. Orlova, M. D. Orlova, A. V. Poliakov   +8 more
doaj   +1 more source

Novel genotyping algorithms for rare variants significantly improve the accuracy of Applied Biosystems™ Axiom™ array genotyping calls: Retrospective evaluation of UK Biobank array data.

PLoS ONE, 2022
The UK Biobank genotyped about 500k participants using Applied Biosystems Axiom microarrays. Participants were subsequently sequenced by the UK Biobank Exome Sequencing Consortium. Axiom genotyping was highly accurate in comparison to sequencing results,
Orna Mizrahi-Man, Marcos H Woehrmann, Teresa A Webster, Jeremy Gollub, Adrian Bivol, Sara M Keeble, Katherine H Aull, Anuradha Mittal, Alan H Roter, Brant A Wong, Jeanette P Schmidt   +10 more
doaj   +1 more source