Literature DB >> 30160830

Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.

Kristin D Kernohan1, Taila Hartley1, Sergey Naumenko2, Christine M Armour3,4,5, Gail E Graham3,4, Sarah M Nikkel5, Matthew Lines4, Michael T Geraghty4, Julie Richer3,4, Wendy Mears1, Kym M Boycott1,3,4, David A Dyment1,3,4.   

Abstract

Mesh：

Year:  2018        PMID： 30160830     DOI： 10.1002/ajmg.a.38838

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  6 in total

Review 1.  Genetic testing strategies in the newborn.

Authors:  Jeanne Carroll; Kristen Wigby; Sarah Murray
Journal:  J Perinatol       Date:  2020-05-29       Impact factor: 2.521

2.  Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant.

Authors:  Jessika Johannsen; Tatjana Bierhals; Philipp Deindl; Laura Hecher; Katharina Hermann; Maja Hempel; Katja Kloth; Jonas Denecke
Journal:  J Pediatr Genet       Date:  2019-04-20

3.  A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome.

Authors:  Francisco Bustos; Carmen Espejo-Serrano; Anna Segarra-Fas; Rachel Toth; Alison J Eaton; Kristin D Kernohan; Meredith J Wilson; Lisa G Riley; Greg M Findlay
Journal:  Sci Rep       Date:  2021-05-05       Impact factor: 4.996

4.  Early-onset vitamin B6-dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature.

Authors:  Oliver Heath; James Pitt; Simone Mandelstam; Carl Kuschel; Anand Vasudevan; Sarah Donoghue
Journal:  JIMD Rep       Date:  2020-11-15

5.  Vitamin B6-dependent epilepsy due to pyridoxal phosphate-binding protein (PLPBP) defect - First case report from Pakistan and review of literature.

Authors:  Sibtain Ahmed; Ralph J DeBerardinis; Min Ni; Bushra Afroze
Journal:  Ann Med Surg (Lond)       Date:  2020-12-01

6.  Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene.

Authors:  Kristian Vestergaard Jensen; Maria Frid; Tommy Stödberg; Michela Barbaro; Anna Wedell; Mette Christensen; Mads Bak; Jakob Ek; Camilla Gøbel Madsen; Niklas Darin; Sabine Grønborg
Journal:  JIMD Rep       Date:  2019-09-30
  6 in total

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