Literature DB >> 29331327

A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.

Chloe M Reuter1, Elise Brimble2, Colette DeFilippo3, Annika M Dries1, Gregory M Enns4, Euan A Ashley5, Jonathan A Bernstein6, Paul Graham Fisher7, Matthew T Wheeler8.   

Abstract

Entities:  

Keywords:  FOXG1; clinical research; diagnostic dilemma; diagnostic odyssey; genetic testing; secondary finding; whole exome sequencing

Mesh：

Substances：

Year:  2018        PMID： 29331327      PMCID： PMC5924635          DOI： 10.1016/j.jpeds.2017.12.029

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  46 in total

1.  A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum.

Authors:  Masaki Takagi; Goro Sasaki; Toshikatsu Mitsui; Misa Honda; Yoko Tanaka; Tomonobu Hasegawa
Journal:  Eur J Med Genet       Date:  2013-07-26       Impact factor: 2.708

2.  Novel mutation in forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome.

Authors:  Dhanjit Kumar Das; Vaishali Jadhav; Vikas C Ghattargi; Vrajesh Udani
Journal:  Gene       Date:  2014-01-09       Impact factor: 3.688

Review 3.  Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature.

Authors:  Caroline De Bruyn; Tim Vanderhasselt; Ibrahim Tanyalçin; Kathelijn Keymolen; Katrijn L Van Rompaey; Linda De Meirleir; Anna C Jansen
Journal:  Eur J Paediatr Neurol       Date:  2013-12-06       Impact factor: 3.140

4.  Isoform-specific toxicity of Mecp2 in postmitotic neurons: suppression of neurotoxicity by FoxG1.

Authors:  Somasish Ghosh Dastidar; Farah H Bardai; Chi Ma; Valerie Price; Varun Rawat; Pragya Verma; Vinodh Narayanan; Santosh R D'Mello
Journal:  J Neurosci       Date:  2012-02-22       Impact factor: 6.167

5.  Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

Authors:  Heather E Olson; Dimira Tambunan; Christopher LaCoursiere; Marti Goldenberg; Rebecca Pinsky; Emilie Martin; Eugenia Ho; Omar Khwaja; Walter E Kaufmann; Annapurna Poduri
Journal:  Am J Med Genet A       Date:  2015-04-25       Impact factor: 2.802

6.  Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Authors:  Jamie D Kapplinger; David J Tester; Benjamin A Salisbury; Janet L Carr; Carole Harris-Kerr; Guido D Pollevick; Arthur A M Wilde; Michael J Ackerman
Journal:  Heart Rhythm       Date:  2009-06-23       Impact factor: 6.343

7.  A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

Authors:  Filomena Tiziana Papa; Maria Antonietta Mencarelli; Rossella Caselli; Eleni Katzaki; Katia Sampieri; Ilaria Meloni; Francesca Ariani; Ilaria Longo; Angela Maggio; Paolo Balestri; Salvatore Grosso; Maria Angela Farnetani; Rosario Berardi; Francesca Mari; Alessandra Renieri
Journal:  Am J Med Genet A       Date:  2008-08-01       Impact factor: 2.802

8.  Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

Authors:  Kelly Q McMahon; Apostolos Papandreou; Mandy Ma; Brenda J Barry; Ghayda M Mirzaa; William B Dobyns; Richard H Scott; Natalie Trump; Manju A Kurian; Alex R Paciorkowski
Journal:  Am J Med Genet A       Date:  2015-09-14       Impact factor: 2.802

9.  A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Authors:  Kelly Schoch; Linyan Meng; Szabolcs Szelinger; David R Bearden; Asbjorg Stray-Pedersen; Oyvind L Busk; Nicholas Stong; Eriskay Liston; Ronald D Cohn; Fernando Scaglia; Jill A Rosenfeld; Jennifer Tarpinian; Cara M Skraban; Matthew A Deardorff; Jeremy N Friedman; Zeynep Coban Akdemir; Nicole Walley; Mohamad A Mikati; Peter G Kranz; Joan Jasien; Allyn McConkie-Rosell; Marie McDonald; Stephanie Burns Wechsler; Michael Freemark; Sujay Kansagra; Sharon Freedman; Deeksha Bali; Francisca Millan; Sherri Bale; Stanley F Nelson; Hane Lee; Naghmeh Dorrani; David B Goldstein; Rui Xiao; Yaping Yang; Jennifer E Posey; Julian A Martinez-Agosto; James R Lupski; Michael F Wangler; Vandana Shashi
Journal:  Am J Hum Genet       Date:  2017-01-26       Impact factor: 11.043

10.  Delineation of the movement disorders associated with FOXG1 mutations.

Authors:  Apostolos Papandreou; Ruth B Schneider; Erika F Augustine; Joanne Ng; Kshitij Mankad; Esther Meyer; Amy McTague; Adeline Ngoh; Cheryl Hemingway; Robert Robinson; Sophia M Varadkar; Maria Kinali; Vincenzo Salpietro; Margaret C O'Driscoll; S Nigel Basheer; Richard I Webster; Shekeeb S Mohammad; Shpresa Pula; Marian McGowan; Natalie Trump; Lucy Jenkins; Frances Elmslie; Richard H Scott; Jane A Hurst; Belen Perez-Duenas; Alexander R Paciorkowski; Manju A Kurian
Journal:  Neurology       Date:  2016-03-30       Impact factor: 9.910
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  8 in total

1.  Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits.

Authors:  Malika Kumar Freund; Kathryn S Burch; Huwenbo Shi; Nicholas Mancuso; Gleb Kichaev; Kristina M Garske; David Z Pan; Zong Miao; Karen L Mohlke; Markku Laakso; Päivi Pajukanta; Bogdan Pasaniuc; Valerie A Arboleda
Journal:  Am J Hum Genet       Date:  2018-10-04       Impact factor: 11.025

2.  Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.

Authors:  Chloe M Reuter; Jennefer N Kohler; Devon Bonner; Diane Zastrow; Liliana Fernandez; Annika Dries; Shruti Marwaha; Jean Davidson; Elly Brokamp; Matthew Herzog; Joyce Hong; Ellen Macnamara; Jill A Rosenfeld; Kelly Schoch; Rebecca Spillmann; Joseph Loscalzo; Joel Krier; Joan Stoler; David Sweetser; Christina G S Palmer; John A Phillips; Vandana Shashi; David A Adams; Yaping Yang; Euan A Ashley; Paul G Fisher; John J Mulvihill; Jonathan A Bernstein; Matthew T Wheeler
Journal:  J Genet Couns       Date:  2019-09-03       Impact factor: 2.537

3.  Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.

Authors:  Meghan C Halley; Jennifer L Young; Liliana Fernandez; Jennefer N Kohler; Jonathan A Bernstein; Matthew T Wheeler; Holly K Tabor
Journal:  Am J Med Genet A       Date:  2022-01-03       Impact factor: 2.802

4.  The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases.

Authors:  Hugo J Bellen; Michael F Wangler; Shinya Yamamoto
Journal:  Hum Mol Genet       Date:  2019-11-21       Impact factor: 5.121

5.  Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease.

Authors:  Jennifer L Young; Meghan C Halley; Beatriz Anguiano; Liliana Fernandez; Jonathan A Bernstein; Matthew T Wheeler; Holly K Tabor
Journal:  Front Genet       Date:  2022-08-22       Impact factor: 4.772

6.  Receiving Genomic Sequencing Results through the Victorian Undiagnosed Disease Program: Exploring Parental Experiences.

Authors:  Jo Martinussen; Michal Chalk; Justine Elliott; Lyndon Gallacher
Journal:  J Pers Med       Date:  2022-07-29

7.  "Doctors can read about it, they can know about it, but they've never lived with it": How parents use social media throughout the diagnostic odyssey.

Authors:  Natalie T Deuitch; Erika Beckman; Meghan C Halley; Jennifer L Young; Chloe M Reuter; Jennefer Kohler; Jonathan A Bernstein; Matthew T Wheeler; Kelly E Ormond; Holly K Tabor
Journal:  J Genet Couns       Date:  2021-06-06       Impact factor: 2.537

Review 8.  Recent Developments in Using Drosophila as a Model for Human Genetic Disease.

Authors:  Christine Oriel; Paul Lasko
Journal:  Int J Mol Sci       Date:  2018-07-13       Impact factor: 5.923
  8 in total

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