Literature DB >> 34077649

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.

Mallory J Owen1, Anna-Kaisa Niemi2, David P Dimmock3, Mark Speziale2, Mark Nespeca2, Kevin K Chau3, Luca Van Der Kraan3, Meredith S Wright3, Christian Hansen3, Narayanan Veeraraghavan3, Yan Ding3, Jerica Lenberg3, Shimul Chowdhury3, Charlotte A Hobbs3, Sergey Batalov3, Zhanyang Zhu3, Shareef A Nahas3, Sheldon Gilmer2, Gail Knight2, Sebastien Lefebvre4, John Reynders4, Thomas Defay4, Jacqueline Weir5, Vicki S Thomson5, Louise Fraser5, Bryan R Lajoie5, Tim K McPhail5, Shyamal S Mehtalia5, Chris M Kunard5, Kevin P Hall5, Stephen F Kingsmore6.   

Abstract

Entities:  

Year:  2021        PMID: 34077649     DOI: 10.1056/NEJMc2100365

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  14 in total

1.  Imagine CRISPR cures.

Authors:  Fyodor D Urnov
Journal:  Mol Ther       Date:  2021-10-28       Impact factor: 11.454

Review 2.  Rapid genomic testing for critically ill children: time to become standard of care?

Authors:  Zornitza Stark; Sian Ellard
Journal:  Eur J Hum Genet       Date:  2021-11-08       Impact factor: 4.246

Review 3.  Multimodal biomedical AI.

Authors:  Julián N Acosta; Guido J Falcone; Pranav Rajpurkar; Eric J Topol
Journal:  Nat Med       Date:  2022-09-15       Impact factor: 87.241

4.  Biomarker testing in cancer management- can one size fit all?

Authors:  Lynette M Sholl; Balazs Halmos
Journal:  Br J Cancer       Date:  2022-09-05       Impact factor: 9.075

5.  Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations.

Authors:  Nour Halabi; Sathishkumar Ramaswamy; Maha El Naofal; Alan Taylor; Sawsan Yaslam; Ruchi Jain; Roudha Alfalasi; Shruti Shenbagam; Martin Bitzan; Lemis Yavuz; Hamda Abulhoul; Shiva Shankar; Dalwinder Janjua; Devendrasing Jadhav; Munira Mahmoud Al Maazmi; Walid Abuhammour; Alawi Alsheikh-Ali; Mohamed Al Awadhi; Abdulla Al Khayat; Ahmad N Abou Tayoun
Journal:  Genome Med       Date:  2022-05-24       Impact factor: 15.266

6.  Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit.

Authors:  Erica Sanford Kobayashi; Bryce Waldman; Branden M Engorn; Katherine Perofsky; Erika Allred; Benjamin Briggs; Chelsea Gatcliffe; Nanda Ramchandar; Jeffrey J Gold; Ami Doshi; Elizabeth G Ingulli; Courtney D Thornburg; Wendy Benson; Lauge Farnaes; Shimul Chowdhury; Seema Rego; Charlotte Hobbs; Stephen F Kingsmore; David P Dimmock; Nicole G Coufal
Journal:  Front Pediatr       Date:  2022-01-24       Impact factor: 3.418

Review 7.  A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.

Authors:  Shruti Marwaha; Joshua W Knowles; Euan A Ashley
Journal:  Genome Med       Date:  2022-02-28       Impact factor: 15.266

8.  Ethylmalonic encephalopathy masquerading as meningococcemia.

Authors:  Zornitza Stark; Michael Fahey; Ari Horton; Kai Mun Hong; Dinusha Pandithan; Meredith Allen; Caroline Killick; Stacy Goergen; Amanda Springer; Dean Phelan; Melanie Marty; Rebecca Halligan; Joy Lee; James Pitt; Belinda Chong; John Christodoulou; Sebastian Lunke
Journal:  Cold Spring Harb Mol Case Stud       Date:  2022-03-24

9.  Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.

Authors:  Thomas J Nicholas; Najla Al-Sweel; Andrew Farrell; Rong Mao; Pinar Bayrak-Toydemir; Christine E Miller; Dawn Bentley; Rachel Palmquist; Barry Moore; Edgar J Hernandez; Michael J Cormier; Eric Fredrickson; Katherine Noble; Shawn Rynearson; Carson Holt; Mary Anne Karren; Joshua L Bonkowsky; Martin Tristani-Firouzi; Mark Yandell; Gabor Marth; Aaron R Quinlan; Luca Brunelli; Reha M Toydemir; Brian J Shayota; John C Carey; Steven E Boyden; Sabrina Malone Jenkins
Journal:  Mol Genet Genomic Med       Date:  2022-02-04       Impact factor: 2.183

10.  Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.

Authors:  Laura Pezzoli; Lidia Pezzani; Ezio Bonanomi; Chiara Marrone; Agnese Scatigno; Anna Cereda; Maria Francesca Bedeschi; Angelo Selicorni; Serena Gasperini; Paolo Bini; Silvia Maitz; Carla Maccioni; Cristina Pedron; Lorenzo Colombo; Daniela Marchetti; Matteo Bellini; Anna Rita Lincesso; Loredana Perego; Monica Pingue; Nunzia Della Malva; Giovanna Mangili; Paolo Ferrazzi; Maria Iascone
Journal:  J Cardiovasc Dev Dis       Date:  2021-12-21
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