Publications by authors named "Martin Elferink"

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Biallelic TMEM72 variants in patients with a nephronophthisis-like phenotype.
Laura R Claus, Rozemarijn Snoek, Siebren Faber, Aurelius J C Roskothen-Shevchuk, Elena Sendino Garví, Martin G Elferink

Nephron· November 2025

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A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling.
Maria M Zwartkruis, Mirjam S de Pagter, Demi Gommers, Marije Koopmans, Cecile P E Ottenheim, Martin G Elferink

Hum Mol Genet· May 2025

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Comprehensive analysis across excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy.
Maria M Zwartkruis, Joris V Kortooms, Demi Gommers, Martin G Elferink, Ilaria Signoria

iScience· May 2025

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The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Laura R Claus, Robert F Ernst, Martin G Elferink, Hanneke W M van Deutekom, Bert van der Zwaag

Kidney Int Rep· September 2024

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Author Correction: Accurate detection of circulating tumor DNA using nanopore consensus sequencing.
Alessio Marcozzi, Myrthe Jager, Martin Elferink, Roy Straver, Joost H van Ginkel

NPJ Genom Med· June 2023

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The patient with 41 reports: Analysis of laboratory exome sequencing reporting of a "virtual patient".
Danya F Vears, Martin Elferink, Marjolein Kriek, Pascal Borry, Koen L van Gassen

Genet Med· June 2022

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Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome.
Andres Ramirez-Martinez, Yichi Zhang, Marie-Jose van den Boogaard, John R McAnally, Cristina Rodriguez-Caycedo, Martin G Elferink

J Clin Invest· June 2022

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Genetics-first approach improves diagnostics of ESKD patients <50 years old.
Rozemarijn Snoek, Richard H van Jaarsveld, Tri Q Nguyen, Edith D J Peters, Martin G Elferink

Nephrol Dial Transplant· January 2022

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Accurate detection of circulating tumor DNA using nanopore consensus sequencing.
Alessio Marcozzi, Myrthe Jager, Martin Elferink, Roy Straver, Joost H van Ginkel

NPJ Genom Med· December 2021

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Analysis of laboratory reporting practices using a quality assessment of a virtual patient.
Danya F Vears, Martin Elferink, Marjolein Kriek, Pascal Borry, Koen L van Gassen

Genet Med· March 2021

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Discordant NIPT result in a viable trisomy-21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy-14 cotwin.
Ron Hochstenbach, Martin G Elferink, Patrick H A van Zon, Klaske D Lichtenbelt, Jeske van Harssel

Clin Case Rep· May 2018

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Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study.
Diane Van Opstal, Merel C van Maarle, Klaske Lichtenbelt, Marjan M Weiss, Heleen Schuring-Blom, Martin G Elferink

Genet Med· April 2018

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Mutations in -acetylglucosamine (-GlcNAc) transferase in patients with X-linked intellectual disability.
Anke P Willems, Mehmet Gundogdu, Marlies J E Kempers, Jacques C Giltay, Rolph Pfundt, Martin Elferink

J Biol Chem· July 2017

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Maternal vitamin B12 deficiency and abnormal cell-free DNA results in pregnancy.
Heleen Schuring-Blom, Klaske Lichtenbelt, Karin van Galen, Martin Elferink, Marjan Weiss

Prenat Diagn· August 2016

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Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Terry Vrijenhoek, Ken Kraaijeveld, Martin Elferink, Joep de Ligt, Elcke Kranendonk

Eur J Hum Genet· September 2015

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Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Terry Vrijenhoek, Ken Kraaijeveld, Martin Elferink, Joep de Ligt, Elcke Kranendonk

Eur J Hum Genet· September 2015

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Cell-free fetal DNA in the maternal circulation originates from the cytotrophoblast: proof from an unique case.
Ron Hochstenbach, Peter G J Nikkels, Martin G Elferink, Martijn A Oudijk, Carla van Oppen

Clin Case Rep· June 2015

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Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome.
Heleen D de Koning, Mariëlle E van Gijn, Monique Stoffels, Johanna Jongekrijg, Patrick L J M Zeeuwen, Martin G Elferink

J Allergy Clin Immunol· February 2015

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Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
Isaac J Nijman, Joris M van Montfrans, Marlous Hoogstraat, Marianne L Boes, Lisette van de Corput, Martin G Elferink

J Allergy Clin Immunol· February 2014

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Signatures of selection in the genomes of commercial and non-commercial chicken breeds.
Martin G Elferink, Hendrik-Jan Megens, Addie Vereijken, Xiaoxiang Hu, Richard P M A Crooijmans

PLoS One· August 2012

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Whole genome SNP discovery and analysis of genetic diversity in Turkey (Meleagris gallopavo).
Muhammad L Aslam, John W M Bastiaansen, Martin G Elferink, Hendrik-Jan Megens, Richard P M A Crooijmans

BMC Genomics· August 2012

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Regional differences in recombination hotspots between two chicken populations.
Martin G Elferink, Pieter van As, Tineke Veenendaal, Richard P M A Crooijmans, Martien A M Groenen

BMC Genet· February 2010

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Partial duplication of the PRLR and SPEF2 genes at the late feathering locus in chicken.
Martin G Elferink, Amélie A A Vallée, Annemieke P Jungerius, Richard P M A Crooijmans, Martien A M Groenen

BMC Genomics· August 2008

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