Jennifer Kerkhof

Bekim Sadikovic 29 collaborations

Michael A Levy 15 collaborations

Haley McConkey 13 collaborations

Raissa Relator 10 collaborations

Alan Stuart 9 collaborations

Hanxin Lin 7 collaborations

Erfan Aref-Eshghi 6 collaborations

Sadegheh Haghshenas 6 collaborations

Roger E Stevenson 6 collaborations

Marielle Alders 6 collaborations

Matthew L Tedder 6 collaborations

Jack Reilly 5 collaborations

Deanna Alexis Carere 4 collaborations

Charles E Schwartz 4 collaborations

Jessica Rzasa 4 collaborations

Aidin Foroutan 4 collaborations

Kathleen Rooney 4 collaborations

Marco Tartaglia 4 collaborations

Pratibha Bhai 4 collaborations

Stephanie Santos 3 collaborations

Peter Ainsworth 3 collaborations

Christopher Howlett 3 collaborations

Victoria Mok Siu 3 collaborations

Andrea Ciolfi 3 collaborations

Michael J Friez 3 collaborations

Gijs W E Santen 3 collaborations

Tugce B Balci 3 collaborations

Siddharth Banka 3 collaborations

Jennifer A Lee 3 collaborations

Marcel M A M Mannens 3 collaborations

Giuseppe Merla 3 collaborations

Steven A Skinner 3 collaborations

André Reis 3 collaborations

Georgia Vasileiou 3 collaborations

Cindy D Skinner 3 collaborations

Dmitrijs Rots 3 collaborations

Rolph Pfundt 3 collaborations

Tjitske Kleefstra 3 collaborations

Antonio Novelli 3 collaborations

Ping Yang 2 collaborations

Catherine Meg McLachlin 2 collaborations

Ian Chin-Yee 2 collaborations

Uday Deotare 2 collaborations

Alejandro Lazo-Langner 2 collaborations

Anargyros Xenocostas 2 collaborations

Eric G Bend 2 collaborations

Lauren Brady 2 collaborations

Mark A Tarnopolsky 2 collaborations

Peter J Ainsworth 2 collaborations

Michael Volodarsky 2 collaborations

Gerarda Cappuccio 2 collaborations

Barbara R DuPont 2 collaborations

Laurence Faivre 2 collaborations

Marco Ferilli 2 collaborations

Robin S Fletcher 2 collaborations

Raymond J Louie 2 collaborations

Renske Oegema 2 collaborations

Astrid S Plomp 2 collaborations

Justine Rousseau 2 collaborations

Pleuntje J van der Sluijs 2 collaborations

Peter Henneman 2 collaborations

Nicola Brunetti-Pierri 2 collaborations

Philippe M Campeau 2 collaborations

Jill A Fahrner 2 collaborations

David Genevieve 2 collaborations

Charles Schwartz 2 collaborations

Slavica Trajkova 2 collaborations

Barbara Pasini 2 collaborations

Kay Metcalfe 2 collaborations

Alfredo Brusco 2 collaborations

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Michael Levy 2 collaborations

Mike Kadour 2 collaborations

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Han G Brunner 2 collaborations

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Affiliations

Publications (31)

Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions.

DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.

Implementation of an NGS-based sequencing and gene fusion panel for clinical screening of patients with suspected hematologic malignancies.

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.

Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature.

Circulation of Bordetella pertussis in the Caribbean Netherlands: a population-based seroepidemiological study.

Congenital hyperinsulinism and novel KDM6A duplications -resolving pathogenicity with genome and epigenetic analyses.

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation.

What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo

Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.

Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome.

Clinical value of next-generation sequencing compared to cytogenetics in patients with suspected myelodysplastic syndrome.

Bone marrow-derived mitochondrial DNA has limited capacity for inter-tissue transfer in vivo.

Validation and clinical performance of a combined nuclear-mitochondrial next-generation sequencing and copy number variant analysis panel in a Canadian population.

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.

Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type.

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1.

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.

Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case.

Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy.

Identification of a robust DNA methylation signature for Fanconi anemia.

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.

Epigenomic and phenotypic characterization of DEGCAGS syndrome.

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

Réseau de co-auteurs