Literature DB >> 25981738

Clinical application of whole-genome sequencing in patients with primary immunodeficiency.

Talal Mousallem1, Thomas J Urban2, K Melodi McSweeney3, Sarah E Kleinstein3, Mingfu Zhu4, Mehdi Adeli5, Roberta E Parrott6, Joseph L Roberts6, Brian Krueger7, Rebecca H Buckley8, David B Goldstein7.   

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Year:  2015        PMID： 25981738      PMCID： PMC5037571          DOI： 10.1016/j.jaci.2015.02.040

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  9 in total

1.  Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase.

Authors:  Dirk Roos; Martin de Boer; M Yavuz Köker; Jan Dekker; Vinita Singh-Gupta; Anders Ahlin; Jan Palmblad; Ozden Sanal; Magdalena Kurenko-Deptuch; Stephen Jolles; Baruch Wolach
Journal:  Hum Mutat       Date:  2006-12       Impact factor: 4.878

2.  Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes.

Authors:  D Noack; J Rae; A R Cross; B A Ellis; P E Newburger; J T Curnutte; P G Heyworth
Journal:  Blood       Date:  2001-01-01       Impact factor: 22.113

3.  Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

Authors:  D Moshous; I Callebaut; R de Chasseval; B Corneo; M Cavazzana-Calvo; F Le Deist; I Tezcan; O Sanal; Y Bertrand; N Philippe; A Fischer; J P de Villartay
Journal:  Cell       Date:  2001-04-20       Impact factor: 41.582

4.  Molecular characterization of patients with X-linked Hyper-IgM syndrome: description of two novel CD40L mutations.

Authors:  A Rangel-Santos; V L Wakim; C M Jacob; A C Pastorino; J M Cunha; A C Collanieri; J E Niemela; A S Grumach; A J S Duarte; D Moraes-Vasconcelos; J B Oliveira
Journal:  Scand J Immunol       Date:  2009-02       Impact factor: 3.487

5.  RAG mutations in human B cell-negative SCID.

Authors:  K Schwarz; G H Gauss; L Ludwig; U Pannicke; Z Li; D Lindner; W Friedrich; R A Seger; T E Hansen-Hagge; S Desiderio; M R Lieber; C R Bartram
Journal:  Science       Date:  1996-10-04       Impact factor: 47.728

6.  Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.

Authors:  Murim Choi; Ute I Scholl; Weizhen Ji; Tiewen Liu; Irina R Tikhonova; Paul Zumbo; Ahmet Nayir; Ayşin Bakkaloğlu; Seza Ozen; Sami Sanjad; Carol Nelson-Williams; Anita Farhi; Shrikant Mane; Richard P Lifton
Journal:  Proc Natl Acad Sci U S A       Date:  2009-10-27       Impact factor: 11.205

7.  A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.

Authors:  Q Lin; J Rohrer; R C Allen; M Larché; J M Greene; A O Shigeoka; R A Gatti; D C Derauf; J W Belmont; M E Conley
Journal:  J Clin Invest       Date:  1996-01-01       Impact factor: 14.808

8.  Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.

Authors:  Elizabeth A Worthey; Alan N Mayer; Grant D Syverson; Daniel Helbling; Benedetta B Bonacci; Brennan Decker; Jaime M Serpe; Trivikram Dasu; Michael R Tschannen; Regan L Veith; Monica J Basehore; Ulrich Broeckel; Aoy Tomita-Mitchell; Marjorie J Arca; James T Casper; David A Margolis; David P Bick; Martin J Hessner; John M Routes; James W Verbsky; Howard J Jacob; David P Dimmock
Journal:  Genet Med       Date:  2011-03       Impact factor: 8.822

9.  Clinical application of exome sequencing in undiagnosed genetic conditions.

Authors:  Anna C Need; Vandana Shashi; Yuki Hitomi; Kelly Schoch; Kevin V Shianna; Marie T McDonald; Miriam H Meisler; David B Goldstein
Journal:  J Med Genet       Date:  2012-05-11       Impact factor: 6.318
  9 in total
  11 in total

1.  Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients.

Authors:  Manasi Kulkarni; Gouri Hule; Martin de Boer; Karin van Leeuwen; Priyanka Kambli; Jahnavi Aluri; Maya Gupta; Aparna Dalvi; Snehal Mhatre; Prasad Taur; Mukesh Desai; Manisha Madkaikar
Journal:  J Clin Immunol       Date:  2018-11-23       Impact factor: 8.317

Review 2.  Use of Genetic Testing for Primary Immunodeficiency Patients.

Authors:  Jennifer R Heimall; David Hagin; Joud Hajjar; Sarah E Henrickson; Hillary S Hernandez-Trujillo; Yuval Tan; Lisa Kobrynski; Kenneth Paris; Troy R Torgerson; James W Verbsky; Richard L Wasserman; Elena W Y Hsieh; Jack J Blessing; Janet S Chou; Monica G Lawrence; Rebecca A Marsh; Sergio D Rosenzweig; Jordan S Orange; Roshini S Abraham
Journal:  J Clin Immunol       Date:  2018-04-19       Impact factor: 8.317

Review 3.  Advances in clinical immunology in 2015.

Authors:  Javier Chinen; Luigi D Notarangelo; William T Shearer
Journal:  J Allergy Clin Immunol       Date:  2016-12       Impact factor: 10.793

Review 4.  Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases).

Authors:  Annely M Richardson; Ann M Moyer; Linda Hasadsri; Roshini S Abraham
Journal:  Curr Allergy Asthma Rep       Date:  2018-02-22       Impact factor: 4.806

5.  Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.

Authors:  Vera Gallo; Laura Dotta; Giuliana Giardino; Emilia Cirillo; Vassilios Lougaris; Roberta D'Assante; Alberto Prandini; Rita Consolini; Emily G Farrow; Isabelle Thiffault; Carol J Saunders; Antonio Leonardi; Alessandro Plebani; Raffaele Badolato; Claudio Pignata
Journal:  Front Immunol       Date:  2016-11-07       Impact factor: 7.561

6.  Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.

Authors:  Cristina Cifaldi; Immacolata Brigida; Federica Barzaghi; Matteo Zoccolillo; Valentina Ferradini; Davide Petricone; Maria Pia Cicalese; Dejan Lazarevic; Davide Cittaro; Maryam Omrani; Enrico Attardi; Francesca Conti; Alessia Scarselli; Maria Chiriaco; Silvia Di Cesare; Francesco Licciardi; Montin Davide; Francesca Ferrua; Clementina Canessa; Claudio Pignata; Silvia Giliani; Simona Ferrari; Georgia Fousteri; Graziano Barera; Pietro Merli; Paolo Palma; Simone Cesaro; Marco Gattorno; Antonio Trizzino; Viviana Moschese; Loredana Chini; Anna Villa; Chiara Azzari; Andrea Finocchi; Franco Locatelli; Paolo Rossi; Federica Sangiuolo; Alessandro Aiuti; Caterina Cancrini; Gigliola Di Matteo
Journal:  Front Immunol       Date:  2019-04-11       Impact factor: 7.561

Review 7.  Application of Flow Cytometry in Primary Immunodeficiencies: Experience From India.

Authors:  Manisha Rajan Madkaikar; Snehal Shabrish; Manasi Kulkarni; Jahnavi Aluri; Aparna Dalvi; Madhura Kelkar; Maya Gupta
Journal:  Front Immunol       Date:  2019-06-11       Impact factor: 7.561

8.  Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.

Authors:  Hemmo A F Yska; Kim Elsink; Taco W Kuijpers; Geert W J Frederix; Mariëlle E van Gijn; Joris M van Montfrans
Journal:  J Clin Immunol       Date:  2019-06-28       Impact factor: 8.317

9.  The Spectrum of Inborn Errors of Immunity in the United Arab Emirates: 5 Year Experience in a Tertiary Center.

Authors:  Hiba Mohammed Shendi; Amna Ali Al Kuwaiti; Ahmed Darwaish Al Dhaheri; Suleiman Al-Hammadi
Journal:  Front Immunol       Date:  2022-01-31       Impact factor: 7.561

Review 10.  Ultra-rare Disease and Genomics-Driven Precision Medicine.

Authors:  Sangmoon Lee; Murim Choi
Journal:  Genomics Inform       Date:  2016-06-30
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