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A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

American journal of human genetics, 2014-11, Vol.95 (5), p.602-610

2014

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Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy

PLoS genetics, 2014-05, Vol.10 (5), p.e1004320-e1004320

2014

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Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability

American journal of human genetics, 2013-04, Vol.92 (4), p.575-583

2013

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Systemic pseudohypoaldosteronism-1 with episodic dyslipidemia in a Sudanese child

Endocrinology, diabetes & metabolism case reports, 2021-06, Vol.2021 (1), p.1-6

2021

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Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation

European journal of medical genetics, 2013-11, Vol.56 (11), p.599-602

2013

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Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

JAMA psychiatry (Chicago, Ill.), 2017-03, Vol.74 (3), p.293

2017

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A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

Journal of allergy and clinical immunology, 2019-06, Vol.143 (6), p.2296-2299

2019

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Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly

American journal of human genetics, 2017-03, Vol.100 (3), p.555-561

2017

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Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia

Genetics in medicine, 2019-08, Vol.21 (8), p.1790-1796

2019

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Identification and characterization of candidate genes in individuals with autosomal recessive intellectual disability

Tawamie, Hasan

2018

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Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability

Human mutation, 2015-02, Vol.36 (2), p.270-278

2015

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SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

Orphanet journal of rare diseases, 2016-09, Vol.11 (1), p.130-130, Article 130

2016

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Recurrent null mutation in SPG20 leads to Troyer syndrome

Molecular and cellular probes, 2015-10, Vol.29 (5), p.315-318

2015

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Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy: e1004320

PLoS genetics, 2014-05, Vol.10 (5)

2014

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A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy

Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

Systemic pseudohypoaldosteronism-1 with episodic dyslipidemia in a Sudanese child

Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly

Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia

Identification and characterization of candidate genes in individuals with autosomal recessive intellectual disability

Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities

Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

Recurrent null mutation in SPG20 leads to Troyer syndrome

Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy: e1004320

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