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Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases

Human mutation, 2022-12, Vol.43 (12), p.2234-2250

2022

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Novel and Recurrent Copy Number Variants in ABCA4 -Associated Retinopathy

International journal of molecular sciences, 2024-05, Vol.25 (11), p.5940

2024

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Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog

PloS one, 2019-08, Vol.14 (8), p.e0220761-e0220761

2019

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Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration

Mammalian genome, 2016-06, Vol.27 (5-6), p.237-245

2016

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Genome Sequence and Comparative Analysis of the Solvent-Producing Bacterium Clostridium acetobutylicum

Journal of Bacteriology, 2001-08, Vol.183 (16), p.4823-4838

2001

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Adverse Pregnancy Outcomes Among Women Who Conceive on Antiretroviral Therapy

Clinical infectious diseases, 2019-01, Vol.68 (2), p.273-279

2019

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Cost‐effective smMIPs‐based sequencing to provide a genetic diagnosis for patients with retinitis pigmentosa, Leber congenital amaurosis and macular diseases

Acta ophthalmologica (Oxford, England), 2024-01, Vol.102 (S279), p.n/a

2024

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An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed

G3 : genes - genomes - genetics, 2016-09, Vol.6 (9), p.2687-2692

2016

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Contribution of Hypertension to Severe Maternal Morbidity

Obstetric anesthesia digest, 2019-09, Vol.39 (3), p.153-153

2019

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Effect of Severity of Illness on Cesarean Delivery Rates in Washington State

Obstetric anesthesia digest, 2018-09, Vol.38 (3), p.125-125

2018

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Depo-medroxyprogesterone in Women on Antiretroviral Therapy: Effective Contraception and Lack of Clinically Significant Interactions

Clinical pharmacology and therapeutics, 2007-02, Vol.81 (2), p.222-227

2007

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Attitudes toward measles vaccination and vaccine hesitancy among pregnant women in Washington state

American journal of obstetrics and gynecology, 2020-12, Vol.223 (6), p.982-982

2020

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O579 PROTEOMIC PROFILING AND PATHWAY ANALYSIS: A COMBINED ETIOLOGY-SPECIFIC APPROACH TO UNDERSTANDING PRETERM LABOR

International journal of gynecology and obstetrics, 2012-10, Vol.119 (S3), p.S465-S465

2012

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Amniotic fluid infection, cytokines, and adverse outcome among infants at 34 weeks' gestation or less

Obstetrics and gynecology (New York. 1953), 2001-12, Vol.98 (6), p.1080-1088

2001

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Study of Late-Onset Stargardt Type 1 Disease: Characteristics, Genetics, and Progression

Ophthalmology (Rochester, Minn.), 2024-01, Vol.131 (1), p.87-97

2024

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Antisense Oligonucleotide-Based Rescue of Complex Intronic Splicing Defects in ABCA4

Nucleic acid therapeutics, 2024-06, Vol.34 (3), p.125-133

2024

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Chronic administration of nevirapine during pregnancy: impact of pregnancy on pharmacokinetics

HIV medicine, 2008-04, Vol.9 (4), p.214-220

2008

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Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan

Experimental eye research, 2024-07, Vol.244, p.109945, Article 109945

2024

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ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

Investigative ophthalmology & visual science, 2022-04, Vol.63 (4), p.20-20

2022

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Representation of Women Among Individuals With Mild Variants in ABCA4 -Associated Retinopathy: A Meta-Analysis

JAMA ophthalmology, 2024-05, Vol.142 (5), p.463

2024

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Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration

Genes, 2019-05, Vol.10 (5), p.385

2019

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Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry

Molecular vision, 2023, Vol.29, p.1-12

2023

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A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs

BMC genetics, 2020-09, Vol.21 (1), p.100, Article 100

2020

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P-glycoprotein and breast cancer resistance protein expression in human placentae of various gestational ages

American journal of physiology. Regulatory, integrative and comparative physiology, 2005-10, Vol.289 (4), p.R963-R969

2005

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Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases

Novel and Recurrent Copy Number Variants in ABCA4 -Associated Retinopathy

Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog

Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration

Genome Sequence and Comparative Analysis of the Solvent-Producing Bacterium Clostridium acetobutylicum

Adverse Pregnancy Outcomes Among Women Who Conceive on Antiretroviral Therapy

Cost‐effective smMIPs‐based sequencing to provide a genetic diagnosis for patients with retinitis pigmentosa, Leber congenital amaurosis and macular diseases

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed

Contribution of Hypertension to Severe Maternal Morbidity

Effect of Severity of Illness on Cesarean Delivery Rates in Washington State

Depo-medroxyprogesterone in Women on Antiretroviral Therapy: Effective Contraception and Lack of Clinically Significant Interactions

Attitudes toward measles vaccination and vaccine hesitancy among pregnant women in Washington state

O579 PROTEOMIC PROFILING AND PATHWAY ANALYSIS: A COMBINED ETIOLOGY-SPECIFIC APPROACH TO UNDERSTANDING PRETERM LABOR

Amniotic fluid infection, cytokines, and adverse outcome among infants at 34 weeks' gestation or less

Study of Late-Onset Stargardt Type 1 Disease: Characteristics, Genetics, and Progression

Antisense Oligonucleotide-Based Rescue of Complex Intronic Splicing Defects in ABCA4

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes

Chronic administration of nevirapine during pregnancy: impact of pregnancy on pharmacokinetics

Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

Representation of Women Among Individuals With Mild Variants in ABCA4 -Associated Retinopathy: A Meta-Analysis

Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration

Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry

A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs

P-glycoprotein and breast cancer resistance protein expression in human placentae of various gestational ages

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