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Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis

European journal of human genetics : EJHG, 2018-12, Vol.26 (12), p.1832-1839

2018

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An unusual diagnosis of alpha‐mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation

American journal of medical genetics. Part A, 2024-05, Vol.194 (5), p.e63532-n/a

2024

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Molecular basis of weak D expression in the Indian population and report of a novel, predominant variant RHD allele

Transfusion (Philadelphia, Pa.), 2018-06, Vol.58 (6), p.1540-1549

2018

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A Peruvian patient carrying the novel RHCEcE(c.382G > C) missense allele in the RH blood group system

Transfusion (Philadelphia, Pa.), 2021-05, Vol.61 (5), p.E41-E43

2021

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Characterization of GJB2 cis-regulatory elements in the DFNB1 locus

Human genetics, 2019-12, Vol.138 (11-12), p.1275-1286

2019

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The novel c.634+4A>G splicing variant in RHCE results in weak C and e antigen expression in a pregnant woman originated from Japan

Transfusion (Philadelphia, Pa.), 2022-04, Vol.62 (4), p.758-763

2022

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Hereditary pancreatitis caused by triplication of the trypsinogen locus

Nature genetics, 2006-12, Vol.38 (12), p.1372-1374

2006

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Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency

PloS one, 2017-11, Vol.12 (11), p.e0187266-e0187266

2017

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The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies

Scientific reports, 2020-06, Vol.10 (1), Article 8865

2020

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The p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis

Journal of cell science, 2021-02, Vol.134 (3)

2021

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Dual NRASQ61R and BRAFV600E mutation-specific immunohistochemistry completes molecular screening in melanoma samples in a routine practice

Human pathology, 2015-11, Vol.46 (11), p.1582-1591

2015

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Microsatellite Instability and Aberrant Pre-mRNA Splicing: How Intimate Is It?

Genes, 2023-01, Vol.14 (2), p.311

2023

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A convenient qualitative and quantitative method to investigate RHD-RHCE hybrid genes

Transfusion (Philadelphia, Pa.), 2013-11, Vol.53 (11pt2), p.2974-2982

2013

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A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family

PloS one, 2013-09, Vol.8 (9), p.e74728

2013

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Next‐generation sequencing is a credible strategy for blood group genotyping

British journal of haematology, 2014-11, Vol.167 (4), p.554-562

2014

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Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients

Genes, 2021-08, Vol.12 (8), p.1267

2021

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Sequential analysis of 18 genes in polycythemia vera and essential thrombocythemia reveals an association between mutational status and clinical outcome

Genes chromosomes & cancer, 2017-05, Vol.56 (5), p.354-362

2017

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Identification of novel variant A alleles within the ABO gene

Transfusion (Philadelphia, Pa.), 2016-05, Vol.56 (5), p.1244-1246

2016

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Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis

Human mutation, 2007-05, Vol.28 (5), p.469-476

2007

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Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France)

Thrombosis and haemostasis, 2012-01, Vol.107 (1), p.44

2012

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Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis

Human genetics, 2008-02, Vol.123 (1), p.83-91

2008

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Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study

PloS one, 2015-07, Vol.10 (7), p.e0132972-e0132972

2015

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Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor ( ) gene

European journal of human genetics : EJHG, 2007-09, Vol.15 (9), p.936-942

2007

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Severe hydrocephalus caused by diffuse leptomeningeal and neurocutaneous melanocytosis of antenatal onset: a clinical, pathologic, and molecular study of 2 cases

Human pathology, 2015-08, Vol.46 (8), p.1189-1196

2015

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Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms

Human mutation, 2004-04, Vol.23 (4), p.343-357

2004

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Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis

An unusual diagnosis of alpha‐mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation

Molecular basis of weak D expression in the Indian population and report of a novel, predominant variant RHD allele

A Peruvian patient carrying the novel RHCEcE(c.382G > C) missense allele in the RH blood group system

Characterization of GJB2 cis-regulatory elements in the DFNB1 locus

The novel c.634+4A>G splicing variant in RHCE results in weak C and e antigen expression in a pregnant woman originated from Japan

Hereditary pancreatitis caused by triplication of the trypsinogen locus

Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency

The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies

The p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis

Dual NRASQ61R and BRAFV600E mutation-specific immunohistochemistry completes molecular screening in melanoma samples in a routine practice

Microsatellite Instability and Aberrant Pre-mRNA Splicing: How Intimate Is It?

A convenient qualitative and quantitative method to investigate RHD-RHCE hybrid genes

A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family

Next‐generation sequencing is a credible strategy for blood group genotyping

Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients

Sequential analysis of 18 genes in polycythemia vera and essential thrombocythemia reveals an association between mutational status and clinical outcome

Identification of novel variant A alleles within the ABO gene

Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis

Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France)

Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis

Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study

Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor ( ) gene

Severe hydrocephalus caused by diffuse leptomeningeal and neurocutaneous melanocytosis of antenatal onset: a clinical, pathologic, and molecular study of 2 cases

Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms

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