List of works - Mohammed Al Balwi

A Report of Two cases of Al-Awadi Raas-Rothschild Syndrome (AARRS) supporting that “Apparent” Phocomelia differentiates AARRS from Schinzel Phocomelia Syndrome (SPS) ⬇️

scientific article published on May 30, 2013

A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

scientific article published on 07 April 2017

A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families

scientific article published on 22 February 2011

A novel homozygous mutation in the SLCO2A1 gene is associated with severe primary hypertrophic osteoarthropathy phenotype in a Saudi patient

scientific article published on 20 January 2015

A novel interstitial deletion of chromosome 2q21.1-q23.3: Case report and literature review

scientific article published on 28 January 2020

A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency

scientific article published on 17 August 2012

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

scientific article

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

scientific article

Analysis of CCR5 gene polymorphisms in 321 healthy Saudis using Next Generation Sequencing.

scientific article published on 6 March 2017

Association of SNPs rs6498169 and rs10984447 with multiple sclerosis in Saudi patients: a model of the usefulness of familial aggregates in identifying genetic linkage in a multifactorial disease

scientific article published on 04 April 2012

Atypical influenza A(H1N1)pdm09 strains caused an influenza virus outbreak in Saudi Arabia during the 2009-2011 pandemic season

scientific article published on 21 February 2019

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

scientific journal article

Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases ⬇️

scientific article published on June 6, 2013

CD95-mediated apoptosis in Burkitt's lymphoma B-cells is associated with Pim-1 down-regulation.

scientific article published on 15 September 2016

Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.

scientific article published on 8 December 2013

Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients

scientific article published on 15 February 2016

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

scientific article

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

scientific article

Coexistence of chronic myeloid leukemia and diffuse large B-cell lymphoma with antecedent chronic lymphocytic leukemia: a case report and review of the literature

scientific article published on 11 March 2018

Congenital duplication of the palm syndrome.

scientific article published on September 2007

Congenital duplication of the palm syndrome: gene analysis and the molecular basis of its clinical features.

scientific article published on 12 March 2009

Corrigendum to 'CD95-mediated apoptosis in Burkitt's lymphoma B-cells is associated with Pim-1 down-regulation'[Biochimica et Biophysica Acta 1863/1 (2017) 239-252].

scientific article published on 27 October 2017

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

scientific article published on 20 June 2019

Differential Gene Expression in Peripheral White Blood Cells with Permissive Underfeeding and Standard Feeding in Critically Ill Patients: A Descriptive Sub-study of the PermiT Randomized Controlled Trial

scientific article published in Scientific Reports

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

scientific article published on 28 June 2017

Evolving sequence mutations in the Middle East Respiratory Syndrome Coronavirus (MERS-CoV)

scientific article published on 01 July 2020

Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children

scientific article published on 07 February 2020

Familial glucocorticoid deficiency in five Arab kindreds with homozygous point mutations of the ACTH receptor (MC2R): genotype and phenotype correlations

scientific article published on 20 July 2011

Gene symbol: LMX1B. Disease: Nail-Patella syndrome

scientific article published in February 2008

Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3.

scientific article published on 24 September 2013

HLA class II polymorphism in Saudi patients with multiple sclerosis

scientific article

HLA-A, -B, -C, -DRB1 and -DQB1 allele and haplotype frequencies in Saudis using next generation sequencing technique.

scientific article

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

scientific article

Hepatitis C virus genotypes in Saudi Arabia: a future prediction and laboratory profile.

scientific article published on 2 November 2017

Hereditary deletion of the entireFAM20Cgene in a patient with Raine syndrome

scientific article published on 16 August 2013

Histopathology of Middle East respiratory syndrome coronovirus (MERS-CoV) infection - clinicopathological and ultrastructural study.

scientific article

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta

scientific article

Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report.

scientific article published on 30 July 2009

Ibrutinib therapy is effective in B-cell prolymphocytic leukemia exhibiting MYC aberrations

scientific article published on 11 July 2017

Isolation and characterization of a new naturally immortalized human breast carcinoma cell line, KAIMRC1.

scientific article published on 29 November 2017

KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome

scientific article published on 07 May 2018

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

scientific article published on 23 May 2019

Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics.

scientific article

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

scientific article

Molecular diagnosis of fragile X syndrome using methylation sensitive techniques in a cohort of patients with intellectual disability

scientific article published on 4 December 2013

Mucolipidosis II: first report from Saudi Arabia

scientific article published on July 2013

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

scientific article published on 13 February 2017

Novel frameshift mutations in ADAMTS13 in two families with hereditary thrombotic thrombocytopenic purpura.

scientific article published on 16 May 2013

Novel human pathological mutations. Gene symbol: EDAR. Disease: Ectodermal dysplasia, hypohidrotic

scientific article published on 01 January 2010

Novel human pathological mutations. Gene symbol: MAN2B1. Disease: Mannosidosis, alpha

scientific article published on 01 January 2010

Novel human pathological mutations. Gene symbol: NF1. Disease: Neurofibromatosis 1

scientific article published on 01 January 2010

Oxidative stress, caloric intake and outcomes of critically ill patients

scientific article published on 10 December 2018

Permissive underfeeding, cytokine profiles and outcomes in critically ill patients

scientific article published in PLoS ONE

Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer

scientific article published on 01 August 2018

Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples

scientific article

Semi-quantitative fluorescence in situ hybridization analysis indicates that the myc protein is consistently stabilized both before and after transformation of low-grade follicular center to high-grade diffuse large cell lymphoma.

scientific article published on June 1999

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

scientific article published on 28 August 2020

Successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene.

scientific article

Tetrasomy 18p: case report and review of literature.

scientific article published on 8 February 2018

The effect of the VKORC1 promoter variant on warfarin responsiveness in the Saudi WArfarin Pharmacogenetic (SWAP) cohort

scientific article published on 15 July 2020

The genetic basis of a craniofacial disease provides insight into COPII coat assembly.

scientific article

The prevalence of CCR5-Δ32 mutation in a cohort of Saudi stem cell donors

scientific article published on 21 July 2017

The unclassified variant: c.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype ⬇️

scientific article published on September 10, 2013

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

scientific article published on 15 September 2016

Tracing the epidemic history of hepatitis C virus genotypes in Saudi Arabia.

scientific article published on 27 April 2017

Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C

scientific article published on 28 March 2015

Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G

scientific article published on 04 September 2018

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

scientific article published on 22 March 2018

List of works by Mohammed Al Balwi

A Report of Two cases of Al-Awadi Raas-Rothschild Syndrome (AARRS) supporting that “Apparent” Phocomelia differentiates AARRS from Schinzel Phocomelia Syndrome (SPS) ⬇️

A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families

A novel homozygous mutation in the SLCO2A1 gene is associated with severe primary hypertrophic osteoarthropathy phenotype in a Saudi patient

A novel interstitial deletion of chromosome 2q21.1-q23.3: Case report and literature review

A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

Analysis of CCR5 gene polymorphisms in 321 healthy Saudis using Next Generation Sequencing.

Association of SNPs rs6498169 and rs10984447 with multiple sclerosis in Saudi patients: a model of the usefulness of familial aggregates in identifying genetic linkage in a multifactorial disease

Atypical influenza A(H1N1)pdm09 strains caused an influenza virus outbreak in Saudi Arabia during the 2009-2011 pandemic season

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases ⬇️

CD95-mediated apoptosis in Burkitt's lymphoma B-cells is associated with Pim-1 down-regulation.

Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.

Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

Coexistence of chronic myeloid leukemia and diffuse large B-cell lymphoma with antecedent chronic lymphocytic leukemia: a case report and review of the literature

Congenital duplication of the palm syndrome.

Congenital duplication of the palm syndrome: gene analysis and the molecular basis of its clinical features.

Corrigendum to 'CD95-mediated apoptosis in Burkitt's lymphoma B-cells is associated with Pim-1 down-regulation'[Biochimica et Biophysica Acta 1863/1 (2017) 239-252].

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

Differential Gene Expression in Peripheral White Blood Cells with Permissive Underfeeding and Standard Feeding in Critically Ill Patients: A Descriptive Sub-study of the PermiT Randomized Controlled Trial

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Evolving sequence mutations in the Middle East Respiratory Syndrome Coronavirus (MERS-CoV)

Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children

Familial glucocorticoid deficiency in five Arab kindreds with homozygous point mutations of the ACTH receptor (MC2R): genotype and phenotype correlations

Gene symbol: LMX1B. Disease: Nail-Patella syndrome

Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3.

HLA class II polymorphism in Saudi patients with multiple sclerosis

HLA-A, -B, -C, -DRB1 and -DQB1 allele and haplotype frequencies in Saudis using next generation sequencing technique.

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Hepatitis C virus genotypes in Saudi Arabia: a future prediction and laboratory profile.

Hereditary deletion of the entireFAM20Cgene in a patient with Raine syndrome

Histopathology of Middle East respiratory syndrome coronovirus (MERS-CoV) infection - clinicopathological and ultrastructural study.

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta

Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report.

Ibrutinib therapy is effective in B-cell prolymphocytic leukemia exhibiting MYC aberrations

Isolation and characterization of a new naturally immortalized human breast carcinoma cell line, KAIMRC1.

KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics.

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

Molecular diagnosis of fragile X syndrome using methylation sensitive techniques in a cohort of patients with intellectual disability

Mucolipidosis II: first report from Saudi Arabia

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Novel frameshift mutations in ADAMTS13 in two families with hereditary thrombotic thrombocytopenic purpura.

Novel human pathological mutations. Gene symbol: EDAR. Disease: Ectodermal dysplasia, hypohidrotic

Novel human pathological mutations. Gene symbol: MAN2B1. Disease: Mannosidosis, alpha

Novel human pathological mutations. Gene symbol: NF1. Disease: Neurofibromatosis 1

Oxidative stress, caloric intake and outcomes of critically ill patients

Permissive underfeeding, cytokine profiles and outcomes in critically ill patients

Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer

Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples

Semi-quantitative fluorescence in situ hybridization analysis indicates that the myc protein is consistently stabilized both before and after transformation of low-grade follicular center to high-grade diffuse large cell lymphoma.

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene.

Tetrasomy 18p: case report and review of literature.

The effect of the VKORC1 promoter variant on warfarin responsiveness in the Saudi WArfarin Pharmacogenetic (SWAP) cohort

The genetic basis of a craniofacial disease provides insight into COPII coat assembly.

The prevalence of CCR5-Δ32 mutation in a cohort of Saudi stem cell donors

The unclassified variant: c.2044AD&gt;G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype ⬇️

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Tracing the epidemic history of hepatitis C virus genotypes in Saudi Arabia.

Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C

Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

The unclassified variant: c.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype ⬇️