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Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

Journal of medical genetics, 2014-02, Vol.51 (2), p.132-136

2014

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Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects

American journal of human genetics, 2011-12, Vol.89 (6), p.773-781

2011

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Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy

Human mutation, 2019-10, Vol.40 (10), p.1826-1840

2019

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Development of an electronic medical record based alert for risk of HIV treatment failure in a low-resource setting

PloS one, 2014-11, Vol.9 (11), p.e112261

2014

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Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants

International journal of molecular sciences, 2022-04, Vol.23 (8), p.4294

2022

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Comparison of electromagnetic neuronavigation system and free-hand method for ventricular catheter placement in internal shunt

Clinical neurology and neurosurgery, 2017-07, Vol.158, p.93-97

2017

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Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders

Human mutation, 2019-06, Vol.40 (6), p.765-787

2019

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Oribatid Mites: biodiversity, taxonomy and ecology

1, 2023

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Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome

American journal of ophthalmology, 2015-08, Vol.160 (2), p.364-372.e1

2015

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A methodological framework to embrace soil biodiversity

Soil biology & biochemistry, 2019-09, Vol.136, p.107536, Article 107536

2019

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Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling

Human mutation, 2007-01, Vol.28 (1), p.81-91

2007

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Albinism in a patient with mutations at both the OA1 and OCA3 loci

Pigment cell and melanoma research, 2016-01, Vol.29 (1), p.107-109

2016

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Long term follow up of two independent patients with Schinzel–Giedion carrying SETBP1 mutations

European journal of medical genetics, 2015-09, Vol.58 (9), p.479-487

2015

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Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

International journal of molecular sciences, 2021-06, Vol.22 (12), p.6410

2021

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Revealing the hyperdiverse mite fauna of subarctic Canada through DNA barcoding

PloS one, 2012-11, Vol.7 (11), p.e48755-e48755

2012

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Description of Oromurcia magadanensis sp. nov. (Acari, Oribatida, Ceratozetidae) from Russia, with remarks on biogeography of the genus Oromurcia Thor, 1930

Zootaxa, 2022-09, Vol.5187 (1), p.30

2022

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Tegoribatidae of North America, with proposal of Protectoribates gen. nov., and new species (Acari, Oribatida, Tegoribatidae)

Zootaxa, 2017-10, Vol.4337 (2), p.151

Behan-Pelletier, Valerie M

2017

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Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

Human mutation, 2010-03, Vol.31 (3), p.E1241-E1250

2010

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Sexual dimorphism in Autogneta, with description of three new species from North America and new diagnosis of the genus (Acari, Oribatida, Autognetidae)

Zootaxa, 2015-04, Vol.3946 (1), p.55

Behan-Pelletier, Valerie M

2015

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Review of sexual dimorphism in brachypyline oribatid mites

Acarologia, 2015-06, Vol.55 (2), p.127-146

Behan-Pelletier, V.M.

2015

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A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype

Ophthalmic genetics, 2011-11, Vol.32 (4), p.250-255

2011

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Virologic outcome among patients receiving antiretroviral therapy at five hospitals in Haiti

PloS one, 2018-01, Vol.13 (1), p.e0192077-e0192077

2018

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Megeremaeus cretaceous new species (Acari: Oribatida), the first oribatid mite from Canadian amber

Canadian entomologist, 2017-06, Vol.149 (3), p.277-290

2017

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Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects

Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy

Development of an electronic medical record based alert for risk of HIV treatment failure in a low-resource setting

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants

Comparison of electromagnetic neuronavigation system and free-hand method for ventricular catheter placement in internal shunt

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders

Oribatid Mites: biodiversity, taxonomy and ecology

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome

A methodological framework to embrace soil biodiversity

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling

Albinism in a patient with mutations at both the OA1 and OCA3 loci

Long term follow up of two independent patients with Schinzel–Giedion carrying SETBP1 mutations

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

Revealing the hyperdiverse mite fauna of subarctic Canada through DNA barcoding

Description of Oromurcia magadanensis sp. nov. (Acari, Oribatida, Ceratozetidae) from Russia, with remarks on biogeography of the genus Oromurcia Thor, 1930

Tegoribatidae of North America, with proposal of Protectoribates gen. nov., and new species (Acari, Oribatida, Tegoribatidae)

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

Sexual dimorphism in Autogneta, with description of three new species from North America and new diagnosis of the genus (Acari, Oribatida, Autognetidae)

Global decomposition experiment shows soil animal impacts on decomposition are climate-dependent

Review of sexual dimorphism in brachypyline oribatid mites

A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype

Virologic outcome among patients receiving antiretroviral therapy at five hospitals in Haiti

Megeremaeus cretaceous new species (Acari: Oribatida), the first oribatid mite from Canadian amber

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