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Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype

Clinical genetics, 2016-03, Vol.89 (3), p.359-366

2016

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Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder

Otolaryngology case reports, 2021-11, Vol.21, p.100367, Article 100367

2021

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High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density

Osteoporosis international, 2009-02, Vol.20 (2), p.341-346

2009

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Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk

Nature genetics, 2022-06, Vol.54 (6), p.804-816

2022

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Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.271-281

2015

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HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

American journal of medical genetics. Part A, 2006-01, Vol.140A (1), p.1-7

2006

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Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2258-2265

2013

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Evolution of Placental Proteases

Biological chemistry, 2002-07, Vol.383 (7-8), p.1113-1118

2002

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Expanding the SH0C2 Mutation Associated Phenotype of Noonan Syndrome With Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2420-2430

2013

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Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density

European journal of human genetics : EJHG, 2005-06, Vol.13 (6), p.781-788

2005

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Evolution of placentally expressed cathepsins

Biochemical and biophysical research communications, 2002-04, Vol.293 (1), p.23-29

2002

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Murine Spam1 mRNA: Involvement of AU-rich elements in the 3′UTR and antisense RNA in its tight post-transcriptional regulation in spermatids

Molecular reproduction and development, 2006-02, Vol.73 (2), p.247-255

2006

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Expression and characterization of cathepsin P

Biochemical journal, 2004-03, Vol.378 (Pt 2), p.657-663

2004

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An Integrative Approach for Interpretation of Clinical NGS Genomic Variant Data

Journal of biomolecular techniques, 2014-05, Vol.25 (Suppl), p.S6-S7

2014

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Amino acid substitutions in the N-terminal segment of cystatin C create selective protein inhibitors of lysosomal cysteine proteinases

Biochemical journal, 1998-03, Vol.330 ( Pt 2) (2), p.833-838

1998

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Cathepsin P, a novel protease in mouse placenta

Biochemical journal, 1999-10, Vol.343 Pt 2 (2), p.307-309

1999

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Cathepsin Q, a Novel Lysosomal Cysteine Protease Highly Expressed in Placenta

Biochemical and biophysical research communications, 2000-01, Vol.267 (3), p.791-795

2000

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High resolution linkage and linkage disequilibrium analyses of chromosome lp36 SNPs identify new positional candidate genes for low bone mineral density

Osteoporosis international, 2009, Vol.20 (2), p.341-346

2009

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Expression of Cysteine Proteases in Extraembryonic Tissues during Mouse Embryogenesis

Archives of biochemistry and biophysics, 1999-12, Vol.372 (2), p.375-381

1999

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Benchmarking miRNA Expression Levels in Degraded RNA Samples Using Real-Time RT-qPCR and Microarray Technologies

Journal of biomolecular techniques, 2011-10, Vol.22 (Suppl), p.S45-S45

2011

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Better Outcomes for Our Patients: Moving Science Forward in the Biomolecular Core Laboratory at the Nemours Center of Pediatric Research

Journal of biomolecular techniques, 2011-10, Vol.22 (Suppl), p.S32-S32

2011

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Determining miRNA Expression Levels in Degraded RNA Samples Using Real-Time RT-qPCR and Microarray Technologies

Journal of biomolecular techniques, 2011-10, Vol.22 (Suppl), p.S23-S23

2011

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NERLSCD: A Model for Regional Networking of Life Sciences Core Directors

Journal of biomolecular techniques, 2011-10, Vol.22 (Suppl), p.S29-S29

2011

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Digital Gene Expression of miRNA in Osteosarcoma Xenografts: Finding Biological Relevance in miRNA High Throughput Sequencing Data

Journal of biomolecular techniques, 2010-09, Vol.21 (3 Suppl), p.S25-S25

2010

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Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype

Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder

High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density

Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

Author Correction: Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk

HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory

Evolution of Placental Proteases

Expanding the SH0C2 Mutation Associated Phenotype of Noonan Syndrome With Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis

Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density

Evolution of placentally expressed cathepsins

Murine Spam1 mRNA: Involvement of AU-rich elements in the 3′UTR and antisense RNA in its tight post-transcriptional regulation in spermatids

Expression and characterization of cathepsin P

An Integrative Approach for Interpretation of Clinical NGS Genomic Variant Data

Amino acid substitutions in the N-terminal segment of cystatin C create selective protein inhibitors of lysosomal cysteine proteinases

Cathepsin P, a novel protease in mouse placenta

Cathepsin Q, a Novel Lysosomal Cysteine Protease Highly Expressed in Placenta

High resolution linkage and linkage disequilibrium analyses of chromosome lp36 SNPs identify new positional candidate genes for low bone mineral density

Expression of Cysteine Proteases in Extraembryonic Tissues during Mouse Embryogenesis

Benchmarking miRNA Expression Levels in Degraded RNA Samples Using Real-Time RT-qPCR and Microarray Technologies

Better Outcomes for Our Patients: Moving Science Forward in the Biomolecular Core Laboratory at the Nemours Center of Pediatric Research

Determining miRNA Expression Levels in Degraded RNA Samples Using Real-Time RT-qPCR and Microarray Technologies

NERLSCD: A Model for Regional Networking of Life Sciences Core Directors

Digital Gene Expression of miRNA in Osteosarcoma Xenografts: Finding Biological Relevance in miRNA High Throughput Sequencing Data

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