List of works - Mohammad K Eldomery - Paulina

List of works by Mohammad K Eldomery

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

scientific article published on 31 August 2016

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

scientific article published on 24 July 2017

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

scientific article

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

scientific article published in November 2017

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

scientific article published in January 2018

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

scientific article published on September 2016

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

scientific article published on 10 August 2016

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

scientific article

Lessons learned from additional research analyses of unsolved clinical exome cases

scientific article published on 21 March 2017

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

scientific article

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

scientific article

Phenotypic expansion in - a common cause of intellectual disability in females

scientific article published on 15 September 2018

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

scientific article

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

scientific article published on 07 September 2016

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

scientific article published on 9 April 2018

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