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C9orf72 Repeat Expansion Frequency among Patients with Huntington Disease Genetic Testing

Neuro-degenerative diseases, 2019-04, Vol.18 (5-6), p.239-253

2019

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Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

Kidney international, 2008-12, Vol.74 (11), p.1468-1479

2008

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Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy

Neurology, 2016-05, Vol.86 (19), p.1762-1771

2016

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The Power of Proficiency Testing: Unraveling Single-Nucleotide Polymorphism Interference, With Potential Impact on Clinical Testing of Spinocerebellar Ataxia Type 3

Archives of pathology & laboratory medicine (1976), 2019-03, Vol.143 (3), p.349-355

2019

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Identification of 58 novel mutations in Niemann‐Pick disease type C: Correlation with biochemical phenotype and importance of PTC1‐like domains in NPC1

Human mutation, 2003-10, Vol.22 (4), p.313-325

2003

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Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss

The journal of applied laboratory medicine, 2020-05, Vol.5 (3), p.467-479

2020

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Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis

Journal of the American Society of Nephrology, 2007-06, Vol.18 (6), p.1905-1914

2007

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Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region

American journal of medical genetics. Part A, 2014-10, Vol.164A (10), p.2514-2520

2014

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Development and Clinical Implementation of a Combination Deletion PCR and Multiplex Ligation-Dependent Probe Amplification Assay for Detecting Deletions Involving the Human α-Globin Gene Cluster

The Journal of molecular diagnostics : JMD, 2011-09, Vol.13 (5), p.549-557

2011

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Niemann-Pick C Variant Detection by Altered Sphingolipid Trafficking and Correlation with Mutations within a Specific Domain of NPC1

American journal of human genetics, 2001-06, Vol.68 (6), p.1361-1372

2001

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Deletional HPFH Vs. Delta Beta Thalassemia: Closing in on a Possible Hb F Silencer Location

Blood, 2015-12, Vol.126 (23), p.3372-3372

2015

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Large Deletions Involving the Beta Globin Gene Complex: Genotype-Phenotype Correlation of 119 Cases

Blood, 2015-12, Vol.126 (23), p.3374-3374

2015

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Grand challenges in the science of wind energy

Science (American Association for the Advancement of Science), 2019-10, Vol.366 (6464)

2019

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Wind plants can impact long-term local atmospheric conditions

Scientific reports, 2021-11, Vol.11 (1), p.22939-22939, Article 22939

2021

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Continued results from a field campaign of wake steering applied at a commercial wind farm – Part 2

Wind Energy Science, 2020-07, Vol.5 (3), p.945-958

2020

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Initial results from a field campaign of wake steering applied at a commercial wind farm – Part 1

Wind Energy Science, 2019-05, Vol.4 (2), p.273-285

2019

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Genome-Wide Identification of Medicago Peptides Involved in Macronutrient Responses and Nodulation

Plant physiology (Bethesda), 2017-12, Vol.175 (4), p.1669-1689

2017

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Abstract 2159 The MAB-5/Hox Family Transcription Factor is Important for C. elegans Innate Immune Response to S. epidermidis Infection

The Journal of biological chemistry, 2024-03, Vol.300 (3), p.106654, Article 106654

2024

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The MAB-5/Hox family transcription factor is important for Caenorhabditis elegans innate immune response to Staphylococcus epidermidis infection

G3 : genes - genomes - genetics, 2024-05, Vol.14 (5)

2024

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How wind speed shear and directional veer affect the power production of a megawatt-scale operational wind turbine

Wind Energy Science, 2020-09, Vol.5 (3), p.1169-1190

2020

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How generalizable is a machine-learning approach for modeling hub-height turbulence intensity?

Journal of physics. Conference series, 2022-05, Vol.2265 (2), p.22028

2022

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Longitudinal coherence and short-term wind speed prediction based on a nacelle-mounted Doppler lidar

Journal of physics. Conference series, 2020-09, Vol.1618 (3), p.32051

2020

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Autosomal Dominant Fanconi Syndrome and CKD Associated With Glycine Amidinotransferase Mutation: A Rare Genetic Syndrome: SA-PO528

Journal of the American Society of Nephrology, 2022-11, Vol.33 (11S), p.750-750

2022

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Global variability analysis of mRNA and protein concentrations across and within human tissues

NAR genomics and bioinformatics, 2020-03, Vol.2 (1)

2020

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The Sliding Scale of Snitching: A Qualitative Examination of Snitching in Three Philadelphia Communities

Sociological forum (Randolph, N.J.), 2015-06, Vol.30 (2), p.265-285

2015

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C9orf72 Repeat Expansion Frequency among Patients with Huntington Disease Genetic Testing

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy

The Power of Proficiency Testing: Unraveling Single-Nucleotide Polymorphism Interference, With Potential Impact on Clinical Testing of Spinocerebellar Ataxia Type 3

Identification of 58 novel mutations in Niemann‐Pick disease type C: Correlation with biochemical phenotype and importance of PTC1‐like domains in NPC1

Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss

Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis

Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region

Development and Clinical Implementation of a Combination Deletion PCR and Multiplex Ligation-Dependent Probe Amplification Assay for Detecting Deletions Involving the Human α-Globin Gene Cluster

Niemann-Pick C Variant Detection by Altered Sphingolipid Trafficking and Correlation with Mutations within a Specific Domain of NPC1

Deletional HPFH Vs. Delta Beta Thalassemia: Closing in on a Possible Hb F Silencer Location

Large Deletions Involving the Beta Globin Gene Complex: Genotype-Phenotype Correlation of 119 Cases

Grand challenges in the science of wind energy

Wind plants can impact long-term local atmospheric conditions

Continued results from a field campaign of wake steering applied at a commercial wind farm – Part 2

Initial results from a field campaign of wake steering applied at a commercial wind farm – Part 1

Genome-Wide Identification of Medicago Peptides Involved in Macronutrient Responses and Nodulation

Abstract 2159 The MAB-5/Hox Family Transcription Factor is Important for C. elegans Innate Immune Response to S. epidermidis Infection

The MAB-5/Hox family transcription factor is important for Caenorhabditis elegans innate immune response to Staphylococcus epidermidis infection

How wind speed shear and directional veer affect the power production of a megawatt-scale operational wind turbine

How generalizable is a machine-learning approach for modeling hub-height turbulence intensity?

Longitudinal coherence and short-term wind speed prediction based on a nacelle-mounted Doppler lidar

Autosomal Dominant Fanconi Syndrome and CKD Associated With Glycine Amidinotransferase Mutation: A Rare Genetic Syndrome: SA-PO528

Global variability analysis of mRNA and protein concentrations across and within human tissues

The Sliding Scale of Snitching: A Qualitative Examination of Snitching in Three Philadelphia Communities

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