D. Antony

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The UK10K project identifies rare variants in health and disease

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2016 .

Correction: Genome at Juncture of Early Human Migration: A Systematic Analysis of Two Whole Genomes and Thirteen Exomes from Kuwaiti Population Subgroup of Inferred Saudi Arabian Tribe Ancestry

G. Thareja, D. Antony, O. Alsmadi, 2014, PLoS ONE.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

H. Brunner, H. Omran, M. Schmidts, 2018, American journal of human genetics.

Universitet Low-frequency variation in TP 53 has large effects on head circumference and intracranial

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019 .

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2018, bioRxiv.

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Shane A. McCarthy, Richard D Emes, Klaudia Walter, 2017, Nature Communications.

Single tube duplex PCR for simultaneous detection of Phytophthora capsici and Radopholus similis infecting black pepper (Piper nigrum)

D. Antony, A. Ravindran, S. Eapen, 2011 .

Sudden cardiac death diagnosed with dilated cardiomyopathy in a Kuwaiti family: a case report

D. Antony, K. Behbehani, O. Alsmadi, 2014, BMC Research Notes.

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Richard D Emes, A. Hoischen, P. Scambler, 2013, Journal of Medical Genetics.

Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases

R. Backofen, H. Brunner, M. Schmidts, 2022, Frontiers in Genetics.

Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

M. Rosenfeld, P. Scambler, H. Omran, 2013, Human mutation.

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019, Nature Communications.

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

Gail Clement, Jie Huang, Antonio Ciampi, 2014, Nature Communications.

Tumor necrosis factor-alpha activates the human prolactin gene promoter via nuclear factor-kappa B signaling

G. Nelson, D. Spiller, M. White, 2007 .

Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child

M. Schmidts, R. Maroofian, D. Antony, 2018, Kidney international reports.

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Thomas M. Keane, Chin Yang Shapland, 2018, bioRxiv.

Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia

M. Abu-Farha, C. Bacchelli, D. Antony, 2017, European journal of haematology.

Title : Novel G 6 B gene variant cause familial autosomal recessive thrombocytopenia and anemia Running title : Melhem et al . G 6 B NOVEL VARIANT CAUSE THROMBOCYTOPENIA AND ANEMIA

M. Abu-Farha, C. Bacchelli, L. Beales, 2016 .

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Tom R. Gaunt, Klaudia Walter, Nicholas J Timpson, 2015, Nature Communications.

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

M. Schmidts, D. Antony, E. G. Karimiani, 2019, Front. Pediatr..

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

Richard D Emes, S. Antonarakis, G. Pals, 2013, American journal of human genetics.

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

Richard D Emes, S. Antonarakis, G. Pals, 2013, American journal of human genetics.

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

J. Rosenfeld, D. Trabzuni, S. Arold, 2021, Brain : a journal of neurology.

Genome at Juncture of Early Human Migration: A Systematic Analysis of Two Whole Genomes and Thirteen Exomes from Kuwaiti Population Subgroup of Inferred Saudi Arabian Tribe Ancestry

T. Thanaraj, G. Thareja, D. Antony, 2014, PloS one.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

UK 10 K Consortium

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2019 .

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

M. Hurles, P. Scambler, T. Neuhann, 2013, Human mutation.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Shane A. McCarthy, R. Durbin, Klaudia Walter, 2016, Nature Communications.

Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics

J. Tuomilehto, T. Thanaraj, F. Al-Mulla, 2018, Scientific Reports.

Ciliary Dyneins and Dynein Related Ciliopathies

H. Brunner, M. Schmidts, D. Antony, 2021, Cells.

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

M. Hubank, P. Beales, M. Schmidts, 2017, European journal of medical genetics.

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

H. Omran, S. Letteboer, R. Roepman, 2018, PLoS genetics.

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.

Richard D Emes, P. Scambler, G. Pals, 2013, American journal of human genetics.

Genetic variants associated with warfarin dosage in Kuwaiti population.

J. Tuomilehto, T. Thanaraj, D. Antony, 2017, Pharmacogenomics.

Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

H. Fuchs, A. Köttgen, T. Meitinger, 2023, medRxiv.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Gail Clement, Jie Huang, Inês Barroso, 2016, Nature Communications.

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

I. Thiffault, G. Pazour, B. Tüysüz, 2023, PLoS genetics.

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

I. Thiffault, G. Pazour, B. Tüysüz, 2023, medRxiv.

Base editing derived models of human WDR34 and WDR60 disease alleles replicate retrograde IFT and hedgehog signaling defects and suggest disturbed Golgi protein transport

H. Brunner, M. Schmidts, D. Antony, 2022, bioRxiv.

Sudden cardiac death diagnosed with dilated cardiomyopathy in a Kuwaiti family: a case report

D. Antony, K. Behbehani, O. Alsmadi, 2014, BMC Research Notes.

The UK10K project identifies rare variants in health and disease

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2015, Nature.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Tom R. Gaunt, Thomas M. Keane, Colin A. Johnson, 2015, Nature Communications.

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2015, Nature Communications.

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

M. Hubank, P. Beales, M. Schmidts, 2017, European journal of medical genetics.

Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

Nurit Assia Batzir, H. Fuchs, A. Köttgen, 2023, Kidney international.

Isolation and Evaluation of Endophytic Bacteria Against Plant Parasitic Nematodes Infesting Black Pepper (Piper nigrum L.)

K. Ramana, D. Antony, R. Aravind, 2009 .