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Publications by Françoise Sadler

ABCA4-associated Disease as a Model for Missing Heritability in Autosomal Recessive Disorders: Novel Noncoding Splice, Cis-Regulatory, Structural, and Recurrent Hypomorphic Variants

Genetics in Medicine

Medicine

Genetics

2019

English

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FunSeq2: A Framework for Prioritizing Noncoding Regulatory Variants in Cancer

Genome Biology

2014

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Segmental and Total Uniparental Isodisomy (UPiD) as a Disease Mechanism in Autosomal Recessive Lysosomal Disorders: Evidence From SNP Arrays

European Journal of Human Genetics

Genetics

2019

English

Lessons From Model Organisms: Phenotypic Robustness and Missing Heritability in Complex Disease

English

Biallelic Variants in LINGO1 Are Associated With Autosomal Recessive Intellectual Disability, Microcephaly, Speech and Motor Delay

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Identification of Candidate Gene FAM183A and Novel Pathogenic Variants in Known Genes: High Genetic Heterogeneity for Autosomal Recessive Intellectual Disability

PLoS ONE

Multidisciplinary

2018

English

Exome Sequencing Identifies a Novel Missense Variant in RRM2B Associated With Autosomal Recessive Progressive External Ophthalmoplegia

Genome Biology

2011

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Autosomal Recessive Hyperimmunoglobulin E Syndrome: A Distinct Disease Entity

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As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in theTCIRG1Gene

Journal of Bone and Mineral Research

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GPR126 : A Novel Candidate Gene Implicated in Autosomal Recessive Intellectual Disability

American Journal of Medical Genetics, Part A

Genetics

2018

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Françoise Sadler

ABCA4-associated Disease as a Model for Missing Heritability in Autosomal Recessive Disorders: Novel Noncoding Splice, Cis-Regulatory, Structural, and Recurrent Hypomorphic Variants

Related publications

FunSeq2: A Framework for Prioritizing Noncoding Regulatory Variants in Cancer

Segmental and Total Uniparental Isodisomy (UPiD) as a Disease Mechanism in Autosomal Recessive Lysosomal Disorders: Evidence From SNP Arrays

Lessons From Model Organisms: Phenotypic Robustness and Missing Heritability in Complex Disease

Biallelic Variants in LINGO1 Are Associated With Autosomal Recessive Intellectual Disability, Microcephaly, Speech and Motor Delay

Identification of Candidate Gene FAM183A and Novel Pathogenic Variants in Known Genes: High Genetic Heterogeneity for Autosomal Recessive Intellectual Disability

Exome Sequencing Identifies a Novel Missense Variant in RRM2B Associated With Autosomal Recessive Progressive External Ophthalmoplegia

Autosomal Recessive Hyperimmunoglobulin E Syndrome: A Distinct Disease Entity

As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in theTCIRG1Gene

GPR126 : A Novel Candidate Gene Implicated in Autosomal Recessive Intellectual Disability