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BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells

International journal of molecular sciences, 2021-01, Vol.22 (3), p.1345

2021

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Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

Clinical genetics, 2019-03, Vol.95 (3), p.403-408

2019

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Microduplication of 15q13.3 and Xq21.31 in a family with tourette syndrome and comorbidities

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2013-12, Vol.162B (8), p.825-831

2013

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Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

Genes, 2020-12, Vol.11 (12), p.1517

2020

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Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes

Human mutation, 2010-04, Vol.31 (4), p.429-436

2010

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Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant

Stem cell research, 2019-12, Vol.41, p.101594-101594, Article 101594

2019

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DXA measurements in rett syndrome reveal small bones with low bone mass

Journal of bone and mineral research, 2011-09, Vol.26 (9), p.2280-2286

2011

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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Scientific reports, 2019-02, Vol.9 (1), p.1219-1219, Article 1219

2019

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Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT

Stem cell research, 2018-12, Vol.33, p.46-50

2018

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Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels

Journal of nutrition and metabolism, 2018-01, Vol.2018, p.6352919-11

2018

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A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

Scientific reports, 2019-01, Vol.9 (1), p.645-645, Article 645

2019

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A Register-Based Study of Diseases With an Autosomal Recessive Origin in Small Children in Denmark According to Maternal Country of Origin

Paediatric and perinatal epidemiology, 2015-07, Vol.29 (4), p.351-359

2015

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Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C

Stem cell research, 2018-08, Vol.31, p.235-239

2018

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Feasibility study on the use of methylation-specific MLPA for the 11p15 region on prenatal samples

Prenatal diagnosis, 2016-01, Vol.36 (1), p.100-103

2016

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Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2358-2362

2013

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Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90

BMC medical genetics, 2012-08, Vol.13 (1), p.65-65, Article 65

2012

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A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

Investigative ophthalmology & visual science, 2020-02, Vol.61 (2), p.29-29

2020

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Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

BMC medical genetics, 2011-04, Vol.12 (1), p.49-49, Article 49

2011

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A nonsense mutation in FMR1 causing fragile X syndrome

European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.489-491

2011

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Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome

European journal of human genetics : EJHG, 2014-11, Vol.22 (11), p.1283-1289

2014

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Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

American journal of medical genetics. Part A, 2011-12, Vol.155A (12), p.2964-2969

2011

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Partial duplication of 13q31.3–q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2302-2308

2012

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Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features

American journal of medical genetics. Part A, 2006-10, Vol.140A (20), p.2180-2187

2006

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Deletion of 11q12.3–11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome

Gene, 2015-11, Vol.572 (1), p.130-134

2015

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A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

Neurobiology of aging, 2012, Vol.33 (1), p.208.e1-208.e5

2012

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BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

Microduplication of 15q13.3 and Xq21.31 in a family with tourette syndrome and comorbidities

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes

Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant

DXA measurements in rett syndrome reveal small bones with low bone mass

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT

Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

A Register-Based Study of Diseases With an Autosomal Recessive Origin in Small Children in Denmark According to Maternal Country of Origin

Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C

Feasibility study on the use of methylation-specific MLPA for the 11p15 region on prenatal samples

Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family

Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

A nonsense mutation in FMR1 causing fragile X syndrome

Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

Partial duplication of 13q31.3–q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features

Deletion of 11q12.3–11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome

A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

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