List of works - Elizabeth J Bhoj

A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly

scientific article published on 02 July 2020

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor

scientific article published on 01 July 2019

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

scientific article published on 05 June 2020

An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ()

scientific article published on 02 August 2018

Clinical variability of TUBB-associated disorders: Diagnosis through reanalysis

scientific article published on 05 October 2020

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome

scientific article published on 21 September 2020

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

scientific article published on 27 November 2020

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies

scientific article published on 15 February 2018

EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients

scientific article published on 11 October 2020

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.

scientific article published on 16 March 2016

Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome

Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins

scientific article published on 12 November 2017

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

scientific article published on 18 November 2018

Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm

scientific article published on 21 January 2020

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

scientific article published in 2022

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

scientific article published on 02 December 2020

Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum

scientific article published on 04 February 2019

Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq

scientific article published on 30 March 2020

Muenke syndrome: Medical and surgical comorbidities and long-term management

scientific article published on 20 May 2019

Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly

scholarly article by Dong Li published in June 2018

Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.

scientific article published on 20 October 2016

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

scientific article published on 5 June 2016

List of works by Elizabeth J Bhoj