Literature DB >> 29456250

Paediatric genomics: diagnosing rare disease in children.

Caroline F Wright, David R FitzPatrick, Helen V Firth.   

Abstract

This corrects the article DOI: 10.1038/nrg.2017.116.

Entities:  

Year:  2018        PMID： 29456250     DOI： 10.1038/nrg.2018.12

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN： 1471-0056            Impact factor:   53.242


  21 in total

1.  Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.

Authors:  Lauren S Akesson; Stefanie Eggers; Clare J Love; Belinda Chong; Emma I Krzesinski; Natasha J Brown; Tiong Y Tan; Christopher M Richmond; David R Thorburn; John Christodoulou; Matthew F Hunter; Sebastian Lunke; Zornitza Stark
Journal:  Eur J Hum Genet       Date:  2019-07-29       Impact factor: 4.246

Review 2.  Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives.

Authors:  Danielle Christine Maria van der Kaay; Anne Rochtus; Gerhard Binder; Ingo Kurth; Dirk Prawitt; Irène Netchine; Gudmundur Johannsson; Anita C S Hokken-Koelega; Miriam Elbracht; Thomas Eggermann
Journal:  Endocr Connect       Date:  2022-10-10       Impact factor: 3.221

3.  Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.

Authors:  Wenshu XiangWei; Varun Kannan; Yuchen Xu; Gabrielle J Kosobucki; Anthony J Schulien; Hirofumi Kusumoto; Christelle Moufawad El Achkar; Subhrajit Bhattacharya; Gaetan Lesca; Sylvie Nguyen; Katherine L Helbig; Jean-Marie Cuisset; Christina Dühring Fenger; Dragan Marjanovic; Elisabeth Schuler; Ye Wu; Xinhua Bao; Yuehua Zhang; Nina Dirkx; An-Sofie Schoonjans; Steffen Syrbe; Scott J Myers; Annapurna Poduri; Elias Aizenman; Stephen F Traynelis; Johannes R Lemke; Hongjie Yuan; Yuwu Jiang
Journal:  Brain       Date:  2019-10-01       Impact factor: 13.501

Review 4.  The case for open science: rare diseases.

Authors:  Yaffa R Rubinstein; Peter N Robinson; William A Gahl; Paul Avillach; Gareth Baynam; Helene Cederroth; Rebecca M Goodwin; Stephen C Groft; Mats G Hansson; Nomi L Harris; Vojtech Huser; Deborah Mascalzoni; Julie A McMurry; Matthew Might; Christoffer Nellaker; Barend Mons; Dina N Paltoo; Jonathan Pevsner; Manuel Posada; Alison P Rockett-Frase; Marco Roos; Tamar B Rubinstein; Domenica Taruscio; Esther van Enckevort; Melissa A Haendel
Journal:  JAMIA Open       Date:  2020-09-11

5.  Genetics in mainstream medicine: Finally within grasp to influence healthcare globally.

Authors:  Swaroop Aradhya; Robert L Nussbaum
Journal:  Mol Genet Genomic Med       Date:  2018-05-28       Impact factor: 2.183

6.  Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.

Authors:  Huifang Yan; Zhen Shi; Ye Wu; Jiangxi Xiao; Qiang Gu; Yanling Yang; Ming Li; Kai Gao; Yinyin Chen; Xiaoping Yang; Haoran Ji; Binbin Cao; Ruoyu Duan; Yuwu Jiang; Jingmin Wang
Journal:  BMC Med Genet       Date:  2019-05-14       Impact factor: 2.103

7.  Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.

Authors:  Se Song Jang; Soo Yeon Kim; Hunmin Kim; Hee Hwang; Jong Hee Chae; Ki Joong Kim; Jong-Il Kim; Byung Chan Lim
Journal:  Front Neurol       Date:  2019-09-13       Impact factor: 4.003

8.  Transcriptomic signatures across human tissues identify functional rare genetic variation.

Authors:  Nicole M Ferraro; Benjamin J Strober; Pejman Mohammadi; Stephen B Montgomery; Alexis Battle; Jonah Einson; Nathan S Abell; Francois Aguet; Alvaro N Barbeira; Margot Brandt; Maja Bucan; Stephane E Castel; Joe R Davis; Emily Greenwald; Gaelen T Hess; Austin T Hilliard; Rachel L Kember; Bence Kotis; YoSon Park; Gina Peloso; Shweta Ramdas; Alexandra J Scott; Craig Smail; Emily K Tsang; Seyedeh M Zekavat; Marcello Ziosi; Kristin G Ardlie; Themistocles L Assimes; Michael C Bassik; Christopher D Brown; Adolfo Correa; Ira Hall; Hae Kyung Im; Xin Li; Pradeep Natarajan; Tuuli Lappalainen
Journal:  Science       Date:  2020-09-10       Impact factor: 63.714

Review 9.  A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse.

Authors:  Brendan J Houston; Donald F Conrad; Moira K O'Bryan
Journal:  Hum Genet       Date:  2020-04-04       Impact factor: 5.881

10.  Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants.

Authors:  Huijun Wang; Yanyan Qian; Yulan Lu; Qian Qin; Guoping Lu; Guoqiang Cheng; Ping Zhang; Lin Yang; Bingbing Wu; Wenhao Zhou
Journal:  NPJ Genom Med       Date:  2020-05-05       Impact factor: 8.617
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