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Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice

Nature genetics, 2011-06, Vol.43 (6), p.579-584

2011

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A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy

Journal of molecular neuroscience, 2015-05, Vol.56 (1), p.17-23

2015

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A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene

American journal of medical genetics. Part A, 2016-08, Vol.170A (8), p.2111-2118

2016

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Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

Metabolic brain disease, 2015-06, Vol.30 (3), p.687-694

2015

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A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

Orphanet journal of rare diseases, 2016-10, Vol.11 (1), p.139-139, Article 139

2016

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Cover Image, Volume 170A, Number 8, August 2016

American journal of medical genetics. Part A, 2016-08, Vol.170A (8), p.i-i

2016

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Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus

BMC medical genetics, 2018-03, Vol.19 (1), p.34-34, Article 34

2018

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METTL23, a transcriptional partner of GABPA, is essential for human cognition

Human molecular genetics, 2014-07, Vol.23 (13), p.3456-3466

2014

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Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.156-161

2016

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Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene

Gene, 2013-10, Vol.528 (2), p.288-294

2013

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New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation

Journal of dermatology, 2015-08, Vol.42 (8), p.821-822

2015

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Diversity in Androgen Receptor Action Among Treatment-naïve Prostate Cancers Is Reflected in Treatment Response Predictions and Molecular Subtypes

European urology open science (Online), 2020-12, Vol.22, p.34-44

2020

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Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates

Birth defects research. A Clinical and molecular teratology, 2013-12, Vol.97 (12), p.764-769

2013

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Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene

European journal of medical genetics, 2012-12, Vol.55 (12), p.671-676

2012

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Novel insights in cell cycle dysregulation during prostate cancer progression

Endocrine-related cancer, 2021-05, Vol.28 (6), p.R141-R155

2021

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Complement Receptor C3aR1 Contributes to Paclitaxel-Induced Peripheral Neuropathic Pain in Mice and Rats

The Journal of immunology (1950), 2023-12, Vol.211 (11), p.1736

2023

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AR-dependent phosphorylation and phospho-proteome targets in prostate cancer

Endocrine-related cancer, 2020-06, Vol.27 (6), p.R193-R210

2020

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Genomic alterations impact cell cycle-related genes during prostate cancer progression

Endocrine-related cancer, 2021-05, Vol.28 (6), p.L5-L10

2021

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Abstract LB-211: The cardiac transcription factor Nkx2-5 contributes to SRF-dependent AR action in prostate cancer

Cancer research (Chicago, Ill.), 2018-07, Vol.78 (13_Supplement), p.LB-211-LB-211

2018

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Targeting NANOG and FAK via Cx26-derived Cell-penetrating Peptides in Triple-negative Breast Cancer

Molecular cancer therapeutics, 2024-01, Vol.23 (1), p.56

2024

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Entwined African and Asian genetic roots of medieval peoples of the Swahili coast

Nature (London), 2023-03, Vol.615 (7954), p.866-873

2023

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Abstract 390: Prostate cancer progression depends on the activity of the mitotic kinase citron kinase

Cancer research (Chicago, Ill.), 2019-07, Vol.79 (13_Supplement), p.390-390

2019

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Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice

A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy

A comprehensive analysis of coregulator recruitment, androgen receptor function and gene expression in prostate cancer

A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

Cover Image, Volume 170A, Number 8, August 2016

Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus

METTL23, a transcriptional partner of GABPA, is essential for human cognition

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings

Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene

New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation

Diversity in Androgen Receptor Action Among Treatment-naïve Prostate Cancers Is Reflected in Treatment Response Predictions and Molecular Subtypes

Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates

Correction: A comprehensive analysis of coregulator recruitment, androgen receptor function and gene expression in prostate cancer

Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene

Novel insights in cell cycle dysregulation during prostate cancer progression

Complement Receptor C3aR1 Contributes to Paclitaxel-Induced Peripheral Neuropathic Pain in Mice and Rats

AR-dependent phosphorylation and phospho-proteome targets in prostate cancer

Genomic alterations impact cell cycle-related genes during prostate cancer progression

Abstract LB-211: The cardiac transcription factor Nkx2-5 contributes to SRF-dependent AR action in prostate cancer

Targeting NANOG and FAK via Cx26-derived Cell-penetrating Peptides in Triple-negative Breast Cancer

Entwined African and Asian genetic roots of medieval peoples of the Swahili coast

Prostate Cancer Progression Relies on the Mitotic Kinase Citron Kinase

Abstract 390: Prostate cancer progression depends on the activity of the mitotic kinase citron kinase

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