List of works by Frank X Donovan

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.

scientific article published on 2 November 2017

A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India

scientific article published on 26 September 2019

Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.

scientific article published on 5 July 2017

Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN.

scientific article published on 15 May 2017

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

scientific article published on 23 April 2013

Neuroanatomic, epigenetic and genetic differences in monozygotic twins discordant for attention deficit hyperactivity disorder.

scientific article published on 21 March 2017

Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.

scientific article published on 09 March 2017

One in four individuals of African-American ancestry harbors a 5.5kb deletion at chromosome 11q13.1.

scientific article

Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia

scientific article published on 3 February 2016

Regulation of Alr1 Mg transporter activity by intracellular magnesium

scientific article published on 28 June 2011

Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.

scientific article published on 30 November 2017

iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations.

scientific article

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