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CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease

American journal of human genetics, 2015-01, Vol.96 (1), p.121-135

2015

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Genomic diagnostics within a medically underserved population: efficacy and implications

Genetics in medicine, 2018-01, Vol.20 (1), p.31-41

2018

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An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway

Molecular biology of the cell, 2017-09, Vol.28 (19), p.2492-2507

2017

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A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder

Human molecular genetics, 2014-12, Vol.23 (23), p.6395-6406

2014

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A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder

Human mutation, 2012-12, Vol.33 (12), p.1639-1646

2012

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Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

Human molecular genetics, 2019-02, Vol.28 (4), p.525-538

2019

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APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain

Molecular cell, 2022-01, Vol.82 (1), p.90-105.e13

2022

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Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

Brain (London, England : 1878), 2015-08, Vol.138 (Pt 8), p.2173-2190

2015

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Adaptive visual metamorphosis in a deep-sea hydrothermal vent crab

Nature (London), 2002-11, Vol.420 (6911), p.68-70

2002

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A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans

The Laryngoscope, 2014-03, Vol.124 (3), p.E95-E103

2014

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Ontogeny of Vision in Marine Crustaceans

American zoologist, 2001-11, Vol.41 (5), p.1098-1107

2001

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Protein kinase C-induced disorganization and endocytosis of photosensitive membrane in Limulus ventral photoreceptors

Journal of comparative neurology (1911), 2002-01, Vol.442 (3), p.217-225

2002

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Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

American journal of human genetics, 2016-11, Vol.99 (5), p.1117-1129

2016

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Integrating Rare Disease Research Into An Undergraduate Liberal Arts Curriculum To Enhance The Pace Of Rare Disease Gene Discovery For Underserved Populations And Promote STEM Retention

The FASEB journal, 2016-04, Vol.30 (S1)

2016

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Limulus opsins: Diurnal regulation of expression

Visual neuroscience, 2003-09, Vol.20 (5), p.523-534

2003

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Central regulation of photosensitive membrane turnover in the lateral eye of Limulus. II. Octopamine acts via adenylate cyclase/cAMP-dependent protein kinase to prime the retina for transient rhabdom shedding

Visual neuroscience, 2004-09, Vol.21 (5), p.749-763

2004

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Desensitization of the photoresponse in Limulus ventral photoreceptors by protein kinase C precedes rhabdomere disorganization and endocytosis

Visual neuroscience, 2003-05, Vol.20 (3), p.241-248

2003

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Central regulation of photosensitive membrane turnover in the lateral eye of Limulus. I. Octopamine primes the retina for daily transient rhabdom shedding

Visual neuroscience, 2002-05, Vol.19 (3), p.283-297

2002

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Retinal Anatomy of a New Species of Bresiliid Shrimp from a Hydrothermal Vent Field on the Mid-Atlantic Ridge

The Biological bulletin (Lancaster), 1996-02, Vol.190 (1), p.98-110

1996

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Ontogeny of Vision in Marine Crustaceans1

American zoologist, 2001-10, Vol.41 (5), p.1098-1107

2001

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The morphology of the dorsal eye of the hydrothermal vent shrimp, Rimicaris exoculata

Visual neuroscience, 1995-09, Vol.12 (5), p.861-875

1995

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Retinal anatomy of Chorocaris chacei, a deep-sea hydrothermal vent shrimp from the mid-Atlantic ridge

Journal of comparative neurology (1911), 1997-09, Vol.385 (4), p.503-514

1997

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Morphology of the Eye of the Hydrothermal Vent Shrimp, Alvinocaris Markensis

Journal of the Marine Biological Association of the United Kingdom, 1997-11, Vol.77 (4), p.1097-1108

1997

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Retinal anatomy ofChorocaris chacei, a deep-sea hydrothermal vent shrimp from the mid-Atlantic ridge

Journal of comparative neurology (1911), 1997-09, Vol.385 (4), p.503-514

1997

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CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease

Genomic diagnostics within a medically underserved population: efficacy and implications

An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway

A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder

Genetic mapping and exome sequencing identify variants associated with five novel diseases

A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

Adaptive visual metamorphosis in a deep-sea hydrothermal vent crab

A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans

Ontogeny of Vision in Marine Crustaceans

Protein kinase C-induced disorganization and endocytosis of photosensitive membrane in Limulus ventral photoreceptors

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

Integrating Rare Disease Research Into An Undergraduate Liberal Arts Curriculum To Enhance The Pace Of Rare Disease Gene Discovery For Underserved Populations And Promote STEM Retention

Limulus opsins: Diurnal regulation of expression

Central regulation of photosensitive membrane turnover in the lateral eye of Limulus. II. Octopamine acts via adenylate cyclase/cAMP-dependent protein kinase to prime the retina for transient rhabdom shedding

Desensitization of the photoresponse in Limulus ventral photoreceptors by protein kinase C precedes rhabdomere disorganization and endocytosis

Central regulation of photosensitive membrane turnover in the lateral eye of Limulus. I. Octopamine primes the retina for daily transient rhabdom shedding

Retinal Anatomy of a New Species of Bresiliid Shrimp from a Hydrothermal Vent Field on the Mid-Atlantic Ridge

Ontogeny of Vision in Marine Crustaceans1

The morphology of the dorsal eye of the hydrothermal vent shrimp, Rimicaris exoculata

Retinal anatomy of Chorocaris chacei, a deep-sea hydrothermal vent shrimp from the mid-Atlantic ridge

Morphology of the Eye of the Hydrothermal Vent Shrimp, Alvinocaris Markensis

Retinal anatomy ofChorocaris chacei, a deep-sea hydrothermal vent shrimp from the mid-Atlantic ridge

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