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TFEB Links Autophagy to Lysosomal Biogenesis

Science (American Association for the Advancement of Science), 2011-06, Vol.332 (6036), p.1429-1433

2011

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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

Genome medicine, 2018-09, Vol.10 (1), p.74-74, Article 74

2018

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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

Genetics in medicine, 2020-10, Vol.22 (10), p.1633-1641

2020

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P322: Case report: A splice site variant in COL4A6 may cause recurrent stroke

Genetics in Medicine Open, 2024, Vol.2, p.101216, Article 101216

2024

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Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha‐1‐anti‐trypsin deficiency

EMBO molecular medicine, 2013-03, Vol.5 (3), p.397-412

2013

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Liver-directed gene therapy with helper-dependent adenoviral vectors: current state of the art and future challenges

Current pharmaceutical design, 2011-08, Vol.17 (24), p.2488

2011

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P237: A de novo gain-of-function ANO5 variant in a patient with anoctaminopathy5-related muscular dystrophy challenges the skeletal/muscular phenotype dichotomy into question

Genetics in Medicine Open, 2023, Vol.1 (1), p.100265, Article 100265

2023

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Gene therapy with helper-dependent adenoviral vectors: current advances and future perspectives

Viruses, 2010-09, Vol.2 (9), p.1886-1917

2010

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Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report

Clinical case reports, 2022-02, Vol.10 (2), p.e05370-n/a

2022

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P535: The undiagnosed rare disease clinic program of Indiana University: Lessons learned from the first 100 patients enrolled (Phase-I pilot)

Genetics in Medicine Open, 2024, Vol.2, p.101434, Article 101434

2024

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P433: A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type III

Genetics in Medicine Open, 2023, Vol.1 (1), p.100480, Article 100480

2023

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P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature

Genetics in Medicine Open, 2024, Vol.2, p.101494, Article 101494

2024

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A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

The EMBO journal, 2012-03, Vol.31 (5), p.1095-1108

2012

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eP271: Bi-allelic loss of function variant of the ACTG2 gene that proposes a potential novel mechanism for visceral myopathies

Genetics in medicine, 2022-03, Vol.24 (3), p.S171-S171

2022

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The Microphthalmia Transcription Factor (Mitf) Controls Expression of the Ocular Albinism Type 1 Gene: Link between Melanin Synthesis and Melanosome Biogenesis

Molecular and Cellular Biology, 2004-08, Vol.24 (15), p.6550-6559

2004

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TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop

Nature cell biology, 2013-06, Vol.15 (6), p.647

2013

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Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides

Human mutation, 2006-05, Vol.27 (5), p.420-426

2006

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Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder

Clinical genetics, 2024-04, Vol.105 (4), p.455-456

2024

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A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome

American journal of medical genetics. Part A, 2024-05, Vol.194 (5), p.e63499-n/a

2024

Volltextzugriff (PDF)

Reanalysis of Clinical Exome Sequencing Data

The New England journal of medicine, 2019-06, Vol.380 (25), p.2478-2480

2019

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eP268 - Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: a case report

Molecular genetics and metabolism, 2021-04, Vol.132, p.S168-S168

2021

Volltextzugriff (PDF)

Deletion of SMC3 in an individual with heart defects and syndromic features: is haploinsufficiency an unrecognized disease mechanism?

Molecular genetics and metabolism, 2021-04, Vol.132, p.S96

2021

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Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: a case report

Molecular genetics and metabolism, 2021-04, Vol.132, p.S168

2021

Volltextzugriff (PDF)

eP143 - Deletion of SMC3 in an individual with heart defects and syndromic features: is haploinsufficiency an unrecognized disease mechanism?

Molecular genetics and metabolism, 2021-04, Vol.132, p.S96-S96

2021

Volltextzugriff (PDF)

Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants

Neurology, 2021-07, Vol.97 (2), p.e145

2021

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TFEB Links Autophagy to Lysosomal Biogenesis

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

P322: Case report: A splice site variant in COL4A6 may cause recurrent stroke

Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha‐1‐anti‐trypsin deficiency

Liver-directed gene therapy with helper-dependent adenoviral vectors: current state of the art and future challenges

P237: A de novo gain-of-function ANO5 variant in a patient with anoctaminopathy5-related muscular dystrophy challenges the skeletal/muscular phenotype dichotomy into question

Gene therapy with helper-dependent adenoviral vectors: current advances and future perspectives

Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report

P535: The undiagnosed rare disease clinic program of Indiana University: Lessons learned from the first 100 patients enrolled (Phase-I pilot)

P433: A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type III

P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

eP271: Bi-allelic loss of function variant of the ACTG2 gene that proposes a potential novel mechanism for visceral myopathies

The Microphthalmia Transcription Factor (Mitf) Controls Expression of the Ocular Albinism Type 1 Gene: Link between Melanin Synthesis and Melanosome Biogenesis

TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop

Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides

Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder

A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome

Reanalysis of Clinical Exome Sequencing Data

eP268 - Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: a case report

Deletion of SMC3 in an individual with heart defects and syndromic features: is haploinsufficiency an unrecognized disease mechanism?

Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: a case report

eP143 - Deletion of SMC3 in an individual with heart defects and syndromic features: is haploinsufficiency an unrecognized disease mechanism?

Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants

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