Literature DB >> 32020066

How many rare diseases are there?

Melissa Haendel, Nicole Vasilevsky, Deepak Unni, Cristian Bologa, Nomi Harris, Heidi Rehm, Ada Hamosh, Gareth Baynam, Tudor Groza, Julie McMurry, Hugh Dawkins, Ana Rath, Courtney Thaxon, Giovanni Bocci, Marcin P Joachimiak, Sebastian Köhler, Peter N Robinson, Chris Mungall, Tudor I Oprea.   

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Year:  2020        PMID: 32020066     DOI: 10.1038/d41573-019-00180-y

Source DB:  PubMed          Journal:  Nat Rev Drug Discov        ISSN: 1474-1776            Impact factor:   84.694


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  44 in total

1.  A roadmap for the Human Developmental Cell Atlas.

Authors:  Muzlifah Haniffa; Deanne Taylor; Sten Linnarsson; Bruce J Aronow; Gary D Bader; Roger A Barker; Pablo G Camara; J Gray Camp; Alain Chédotal; Andrew Copp; Heather C Etchevers; Paolo Giacobini; Berthold Göttgens; Guoji Guo; Ania Hupalowska; Kylie R James; Emily Kirby; Arnold Kriegstein; Joakim Lundeberg; John C Marioni; Kerstin B Meyer; Kathy K Niakan; Mats Nilsson; Bayanne Olabi; Dana Pe'er; Aviv Regev; Jennifer Rood; Orit Rozenblatt-Rosen; Rahul Satija; Sarah A Teichmann; Barbara Treutlein; Roser Vento-Tormo; Simone Webb
Journal:  Nature       Date:  2021-09-08       Impact factor: 69.504

2.  Exploring deep learning methods for recognizing rare diseases and their clinical manifestations from texts.

Authors:  Isabel Segura-Bedmar; David Camino-Perdones; Sara Guerrero-Aspizua
Journal:  BMC Bioinformatics       Date:  2022-07-06       Impact factor: 3.307

3.  Differential Expression of Proteins in an Atypical Presentation of Autoimmune Lymphoproliferative Syndrome.

Authors:  Dulce María Delgadillo; Adriana Ivonne Céspedes-Cruz; Emmanuel Ríos-Castro; María Guadalupe Rodríguez Maldonado; Mariel López-Nogueda; Miguel Márquez-Gutiérrez; Rocío Villalobos-Manzo; Lorena Ramírez-Reyes; Misael Domínguez-Fuentes; José Tapia-Ramírez
Journal:  Int J Mol Sci       Date:  2022-05-11       Impact factor: 6.208

Review 4.  Estimating the number of diseases - the concept of rare, ultra-rare, and hyper-rare.

Authors:  C I Edvard Smith; Peter Bergman; Daniel W Hagey
Journal:  iScience       Date:  2022-07-01

5.  Clinical study applying machine learning to detect a rare disease: results and lessons learned.

Authors:  William R Hersh; Aaron M Cohen; Michelle M Nguyen; Katherine L Bensching; Thomas G Deloughery
Journal:  JAMIA Open       Date:  2022-06-30

6.  Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.

Authors:  Simon Easteal; Ruth M Arkell; Renzo F Balboa; Shayne A Bellingham; Alex D Brown; Tom Calma; Matthew C Cook; Megan Davis; Hugh J S Dawkins; Marcel E Dinger; Michael S Dobbie; Ashley Farlow; Kylie G Gwynne; Azure Hermes; Wendy E Hoy; Misty R Jenkins; Simon H Jiang; Warren Kaplan; Stephen Leslie; Bastien Llamas; Graham J Mann; Brendan J McMorran; Rebekah E McWhirter; Cliff J Meldrum; Shivashankar H Nagaraj; Saul J Newman; Jack S Nunn; Lyndon Ormond-Parker; Neil J Orr; Devashi Paliwal; Hardip R Patel; Glenn Pearson; Greg R Pratt; Boe Rambaldini; Lynette W Russell; Ravi Savarirayan; Matthew Silcocks; John C Skinner; Yassine Souilmi; Carola G Vinuesa; Gareth Baynam
Journal:  Am J Hum Genet       Date:  2020-08-06       Impact factor: 11.025

Review 7.  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

Review 8.  Orofacial Manifestations Assisting the Diagnosis of Cowden Syndrome in a Middle-Aged Patient: Case Report and Literature Overview.

Authors:  Sebastião Silvério Sousa-Neto; José Alcides Almeida de Arruda; Allisson Filipe Lopes Martins; Lucas Guimarães Abreu; Ricardo Alves Mesquita; Elismauro Francisco Mendonça
Journal:  Head Neck Pathol       Date:  2021-06-09

Review 9.  Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.

Authors:  Julius O B Jacobsen; Catherine Kelly; Valentina Cipriani; Genomics England Research Consortium; Christopher J Mungall; Justin Reese; Daniel Danis; Peter N Robinson; Damian Smedley
Journal:  Hum Mutat       Date:  2022-04-27       Impact factor: 4.700

10.  The economics of moonshots: Value in rare disease drug development.

Authors:  Nathan Yates; Jennifer Hinkel
Journal:  Clin Transl Sci       Date:  2022-03-25       Impact factor: 4.438

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