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Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations

PLoS genetics, 2010-03, Vol.6 (3), p.e1000874-e1000874

2010

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Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans

eLife, 2021-03, Vol.10

2021

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DALIA- a comprehensive resource of Disease Alleles in Arab population

PloS one, 2021-01, Vol.16 (1), p.e0244567-e0244567

2021

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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H + -ATPase subunit ATP6V0A2

Nature genetics, 2008-01, Vol.40 (1), p.32-34

2008

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A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes

Human molecular genetics, 2009-11, Vol.18 (21), p.4013-4021

2009

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Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Science (American Association for the Advancement of Science), 2012-02, Vol.335 (6071), p.966-969

2012

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Gerodermia osteodysplastica is caused by mutations in SCYL1BP1 , a Rab-6 interacting golgin

Nature genetics, 2008-12, Vol.40 (12), p.1410-1412

2008

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Loss of Chondroitin 6-O-Sulfotransferase-1 Function Results in Severe Human Chondrodysplasia with Progressive Spinal Involvement

Proceedings of the National Academy of Sciences - PNAS, 2004-07, Vol.101 (27), p.10155-10160

2004

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Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1

Bone (New York, N.Y.), 2013-08, Vol.55 (2), p.292-297

2013

Volltextzugriff (PDF)

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

Nature genetics, 2000-08, Vol.25 (4), p.419-422

2000

Volltextzugriff (PDF)

Developmental and degenerative features in a complicated spastic paraplegia

Annals of neurology, 2010-04, Vol.67 (4), p.516-525

2010

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Synaptic, transcriptional and chromatin genes disrupted in autism

Nature (London), 2014-11, Vol.515 (7526), p.209-215

2014

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Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

American journal of medical genetics. Part A, 2008-04, Vol.146A (8), p.965-976

2008

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Repository of mutations from Oman: The entry point to a national mutation database [version 1; peer review: 3 approved]

F1000 research, 2015, Vol.4, p.891-891

2015

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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Nature genetics, 2016-09, Vol.48 (9), p.1071

2016

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Nature (London), 2011-10, Vol.478 (7367), p.57-63

2011

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Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy

Journal of medical genetics, 2015-09, Vol.52 (9), p.607-611

2015

Volltextzugriff (PDF)

Dosage effect of zero to three functional LBR-genes in vivo and in vitro

Nucleus (Austin, Tex.), 2010-03, Vol.1 (2), p.179-189

2010

Volltextzugriff (PDF)

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP

Human molecular genetics, 2011-07, Vol.20 (13), p.2585-2590

2011

Volltextzugriff (PDF)

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Brain (London, England : 1878), 2017-04, Vol.140 (4), p.940-952

2017

Volltextzugriff (PDF)

The Gulf Cooperation Countries genetic services. Understanding individuals, families, and community needs

Saudi medical journal, 2007-09, Vol.28 (9), p.1321

2007

Volltextzugriff (PDF)

Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

American journal of human genetics, 2015-05, Vol.96 (5), p.709-719

2015

Volltextzugriff (PDF)

Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman

Reproductive biomedicine online, 2016-02, Vol.32 (2), p.162-169

2016

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Mutations in PYCR1 cause cutis laxa with progeroid features

Nature genetics, 2009-09, Vol.41 (9), p.1016-1021

2009

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Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations

Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans

DALIA- a comprehensive resource of Disease Alleles in Arab population

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H + -ATPase subunit ATP6V0A2

A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1 , a Rab-6 interacting golgin

Loss of Chondroitin 6-O-Sulfotransferase-1 Function Results in Severe Human Chondrodysplasia with Progressive Spinal Involvement

Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

Developmental and degenerative features in a complicated spastic paraplegia

Synaptic, transcriptional and chromatin genes disrupted in autism

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

Repository of mutations from Oman: The entry point to a national mutation database [version 1; peer review: 3 approved]

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy

Dosage effect of zero to three functional LBR-genes in vivo and in vitro

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

The Gulf Cooperation Countries genetic services. Understanding individuals, families, and community needs

Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman

Mutations in PYCR1 cause cutis laxa with progeroid features

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