Publications by authors named "Hans Scheffer"

Claim this Profile
R
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Richelle A C M Olde Keizer, Abderrahim Marouane, Wilhelmina S Kerstjens-Frederikse, A Chantal Deden, Klaske D Lichtenbelt, Hans Scheffer

Eur J Pediatr· June 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Erika Souche, Sergi Beltran, Erwin Brosens, John W Belmont, Magdalena Fossum, Hans Scheffer

Eur J Hum Genet· September 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Stepwise ABC system for classification of any type of genetic variant.
Gunnar Houge, Andreas Laner, Sebahattin Cirak, Nicole de Leeuw, Hans Scheffer

Eur J Hum Genet· February 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa.
Jeroen Bremer, Elisabeth H van der Heijden, Daryll S Eichhorn, Rowdy Meijer, Henny H Lemmink, Hans Scheffer

Mol Ther Nucleic Acids· December 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries.
Thomas Liehr, Isabel M Carreira, Zsofia Balogh, Elena Dominguez Garrido, Irmgard Verdorfer, Hans Scheffer

Eur J Hum Genet· August 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genotype-Guided Thiopurine Dosing Does not Lead to Additional Costs in Patients With Inflammatory Bowel Disease.
Reinier L Sluiter, Corine Van Marrewijk, Dirk De Jong, Hans Scheffer, Henk-Jan Guchelaar

J Crohns Colitis· July 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Patients' beliefs about medicine are associated with early thiopurine discontinuation in patients with inflammatory bowel diseases.
Mark M T J Broekman, Marieke J H Coenen, Geert J Wanten, Corine J van Marrewijk, Wietske Kievit, Hans Scheffer

Eur J Gastroenterol Hepatol· February 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
More Dose-dependent Side Effects with Mercaptopurine over Azathioprine in IBD Treatment Due to Relatively Higher Dosing.
Mark M T J Broekman, Marieke J H Coenen, Corine J van Marrewijk, Geert J A Wanten, Dennis R Wong, Hans Scheffer

Inflamm Bowel Dis· October 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Critical points for an accurate human genome analysis.
Stefan J White, Jeroen F J Laros, Egbert Bakker, Anne Cambon-Thomsen, Martin Eden, Hans Scheffer

Hum Mutat· August 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Rolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, Michael P Kwint, Irene M Janssen, Hans Scheffer

Genet Med· June 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Lonneke Haer-Wigman, Wendy Ag van Zelst-Stams, Rolph Pfundt, L Ingeborgh van den Born, Caroline Cw Klaver, Hans Scheffer

Eur J Hum Genet· May 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
European registration process for Clinical Laboratory Geneticists in genetic healthcare.
Thomas Liehr, Isabel M Carreira, Dilek Aktas, Egbert Bakker, Marta Rodríguez de Alba, Hans Scheffer

Eur J Hum Genet· May 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Early Assessment of Thiopurine Metabolites Identifies Patients at Risk of Thiopurine-induced Leukopenia in Inflammatory Bowel Disease.
Dennis R Wong, Marieke J H Coenen, Sita H Vermeulen, Luc J J Derijks, Corine J van Marrewijk, Hans Scheffer

J Crohns Colitis· February 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, Rolph Pfundt, Jayne Y Hehir-Kwa, Hans Scheffer

Eur J Hum Genet· February 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
Bart P van de Warrenburg, Meyke I Schouten, Susanne T de Bot, Sascha Vermeer, Rowdy Meijer, Hans Scheffer

Eur J Hum Genet· February 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
Bart P van de Warrenburg, Meyke I Schouten, Susanne T de Bot, Sascha Vermeer, Rowdy Meijer, Hans Scheffer

Eur J Hum Genet· October 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Guidelines for diagnostic next-generation sequencing.
Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Hans Scheffer

Eur J Hum Genet· October 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Guidelines for diagnostic next-generation sequencing.
Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Hans Scheffer

Eur J Hum Genet· January 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identification of Patients With Variants in TPMT and Dose Reduction Reduces Hematologic Events During Thiopurine Treatment of Inflammatory Bowel Disease.
Marieke J H Coenen, Dirk J de Jong, Corine J van Marrewijk, Luc J J Derijks, Sita H Vermeulen, Hans Scheffer

Gastroenterology· October 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Kyum-Yil Kwon, Kuhl Huh, Baik-Lin Eun, Han-Wook Yoo, Eric-Jan Kamsteeg, Hans Scheffer

Can J Neurol Sci· July 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
Lisenka E L M Vissers, Monica Bonetti, Jeroen Paardekooper Overman, Willy M Nillesen, Suzanna G M Frints, Hans Scheffer

Eur J Hum Genet· March 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood.
Claudia M Weller, Wilhelmina G Leen, Brian G R Neville, John S Duncan, Boukje de Vries, Hans Scheffer

Cephalalgia· January 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Translating sanger-based routine DNA diagnostics into generic massive parallel ion semiconductor sequencing.
Adinda Diekstra, Ermanno Bosgoed, Alwin Rikken, Bart van Lier, Erik-Jan Kamsteeg, Hans Scheffer

Clin Chem· January 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.
Mathilde Renaud, Mathieu Anheim, Erik-Jan Kamsteeg, Martial Mallaret, Fanny Mochel, Hans Scheffer

JAMA Neurol· October 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.
Dimitra Kiritsi, Marta Garcia, Renske Brander, Cristina Has, Rowdy Meijer, Hans Scheffer

J Invest Dermatol· August 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis