Exome hits demystified: The next frontier

Author:

Ithal Dhruva,Sukumaran Salil K.,Bhattacharjee Debanjan,Vemula Alekhya,Nadella RaviORCID,Mahadevan JayantORCID,Sud ReetekaORCID,Viswanath Biju,Purushottam MeeraORCID,Jain Sanjeev

Funder

Department of Biotechnology

Publisher

Elsevier BV

Subject

Psychiatry and Mental health,General Psychology,General Medicine

Reference312 articles.

1. B-aggressive lymphoma family proteins have unique domains that modulate transcription and exhibit poly(ADP-ribose) polymerase activity;Aguiar;J. Biol. Chem.,2005

2. Glutamatergic copy number variants and their role in attention-deficit/hyperactivity disorder;Akutagava-Martins;Am. J. Med. Genet. B Neuropsychiatr. Genet.,2014

3. A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance;Ali;Orphanet J. Rare Dis.,2012

4. Compound heterozygosity for novel KRT85 variants associated with pure hair and nail ectodermal dysplasia;Amico;J. Acad. Dermatol. Venereol.,2019

5. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield;Anazi;Mol. Psychiatry,2017

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