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Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome

Journal of human genetics, 2016-05, Vol.61 (5), p.447-450

2016

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Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling

Molecular biology and evolution, 2017-08, Vol.34 (8), p.2016-2034

2017

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Beyond the promise: evaluating and mitigating off-target effects in CRISPR gene editing for safer therapeutics

Frontiers in bioengineering and biotechnology, 2024-01, Vol.11, p.1339189

2024

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A Simple, Quick, and Partially Automated Protocol for the Isolation of Single Nuclei from Frozen Mammalian Tissues for Single Nucleus Sequencing

Journal of visualized experiments, 2023-07 (197)

2023

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Pluripotency Redux — Advances in Stem-Cell Research

The New England journal of medicine, 2007-10, Vol.357 (15), p.1469-1472

2007

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A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

Journal of medical genetics, 2016-02, Vol.53 (2), p.98-110

2016

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Alzheimer's Risk Gene TREM2 Determines Functional Properties of New Type of Human iPSC-Derived Microglia

Frontiers in immunology, 2021-02, Vol.11, p.617860

2021

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Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

Human molecular genetics, 2015-06, Vol.24 (11), p.3038-3049

2015

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A polymorphic 3'UTR element in ATP1B1 regulates alternative polyadenylation and is associated with blood pressure

PloS one, 2013-10, Vol.8 (10), p.e76290-e76290

2013

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Allele-specific enhancers mediate associations between LCAT and ABCA1 polymorphisms and HDL metabolism

PloS one, 2019-04, Vol.14 (4), p.e0215911-e0215911

2019

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SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer

BMC developmental biology, 2011-06, Vol.11 (1), p.40-40, Article 40

2011

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Peroxisome-proliferator-activated receptor-binding protein (PBP) is essential for the growth of active Notch4-immortalized mammary epithelial cells by activating SOX10 expression

Biochemical journal, 2009-12, Vol.425 (2), p.435-444

2009

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Close association of olfactory placode precursors and cranial neural crest cells does not predestine cell mixing

Developmental dynamics, 2012-07, Vol.241 (7), p.1143-1154

2012

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Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta

Frontiers in physiology, 2017-06, Vol.8, p.398-398

2017

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Gpnmb is a melanoblast‐expressed, MITF‐dependent gene

Pigment cell and melanoma research, 2009-02, Vol.22 (1), p.99-110

2009

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Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma

JAAD Case Reports, 2017-03, Vol.3 (2), p.143-150

2017

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OCT3/4 regulates transcription of histone deacetylase 4 (Hdac4) in mouse embryonic stem cells

Journal of cellular biochemistry, 2010-10, Vol.111 (2), p.391-401

2010

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Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

Journal of medical genetics, 2015-02, Vol.52 (2), p.85-94

2015

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Hoehn and Yahr Stage and Striatal Dat-SPECT Uptake Are Predictors of Parkinson's Disease Motor Progression

Frontiers in neuroscience, 2021-12, Vol.15, p.765765-765765

2021

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Abstract 151: A Polymorphic T-Rich Element in ATP1B1 Is Associated with Blood Pressure and Regulates Alternative Polyadenylation

Circulation research, 2012-08, Vol.111 (suppl_1)

2012

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A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

Journal of medical genetics, 2016-01, Vol.53 (2), p.98-110

2016

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SOX10 regulates expression of the SH3-domain kinase binding protein 1 (Sh3kbp1) locus in Schwann cells via an alternative promoter

Molecular and cellular neuroscience, 2012-02, Vol.49 (2), p.85-96

2012

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Identification and functional dissection of regulatory sequences at ERBB3 and other neural crest genes

Prasad, Megana

2011

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A Polymorphic 3UTR Element in ATP1B1 Regulates Alternative Polyadenylation and Is Associated with Blood Pressure: e76290

PloS one, 2013-10, Vol.8 (10)

2013

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Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma

JAAD case reports, 2017, Vol.3 (2), p.143-150

2017

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Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome

Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling

Beyond the promise: evaluating and mitigating off-target effects in CRISPR gene editing for safer therapeutics

A Simple, Quick, and Partially Automated Protocol for the Isolation of Single Nuclei from Frozen Mammalian Tissues for Single Nucleus Sequencing

Pluripotency Redux — Advances in Stem-Cell Research

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

Alzheimer's Risk Gene TREM2 Determines Functional Properties of New Type of Human iPSC-Derived Microglia

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

A polymorphic 3'UTR element in ATP1B1 regulates alternative polyadenylation and is associated with blood pressure

Allele-specific enhancers mediate associations between LCAT and ABCA1 polymorphisms and HDL metabolism

SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer

Peroxisome-proliferator-activated receptor-binding protein (PBP) is essential for the growth of active Notch4-immortalized mammary epithelial cells by activating SOX10 expression

Close association of olfactory placode precursors and cranial neural crest cells does not predestine cell mixing

Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta

Gpnmb is a melanoblast‐expressed, MITF‐dependent gene

Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma

OCT3/4 regulates transcription of histone deacetylase 4 (Hdac4) in mouse embryonic stem cells

Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

Hoehn and Yahr Stage and Striatal Dat-SPECT Uptake Are Predictors of Parkinson's Disease Motor Progression

Abstract 151: A Polymorphic T-Rich Element in ATP1B1 Is Associated with Blood Pressure and Regulates Alternative Polyadenylation

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

SOX10 regulates expression of the SH3-domain kinase binding protein 1 (Sh3kbp1) locus in Schwann cells via an alternative promoter

Identification and functional dissection of regulatory sequences at ERBB3 and other neural crest genes

A Polymorphic 3UTR Element in ATP1B1 Regulates Alternative Polyadenylation and Is Associated with Blood Pressure: e76290

Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma

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