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Genetics

D-Index
93
Citations
31537
World Ranking
974
National Ranking
29

Medicine

D-Index
93
Citations
32200
World Ranking
10878
National Ranking
430

Overview

Martijn H. Breuning is affiliated with Leiden University Medical Center in the Netherlands. Their research expertise centers on biochemistry, genetics, and molecular biology, with particular emphasis on molecular biology and genetics as subfields.

The scientist's work explores several main topics, including:

  • Renal and related cancers
  • Genetic and Kidney Cyst Diseases
  • Ion Transport and Channel Regulation

Martijn H. Breuning has contributed to the academic literature with research published in venues such as the Journal of Child Neurology. A notable paper authored is titled "Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature," published in 2020.

Frequent collaborators in their research include:

  • Marieke G. Peetsold
  • Susan Goorden
  • Monique Williams
  • Jaap Bakker
  • Ed Jacobs

Publications by Martijn H. Breuning integrate molecular biology techniques and genetic analysis to address issues such as renal cancers and kidney cyst diseases. Their research often intersects the fields of molecular biology and genetics within the context of biochemical pathways and ion transport mechanisms.

Best Publications

  • PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein

    Toshio Mochizuki;Guanqing Wu;Tomohito Hayashi;Stavroulla L. Xenophontos

  • Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

    Fred Petrif;Rachel H. Giles;Hans G. Dauwerse;Jasper J. Saris

  • Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

    Ercole Rao;Birgit Weiss;Maki Fukami;Maki Fukami;Andreas Rump

  • THE POLYCYSTIC KIDNEY-DISEASE-1 GENE ENCODES A 14-KB TRANSCRIPT AND LIES WITHIN A DUPLICATED REGION ON CHROMOSOME-16

    Christopher Ward;Belén Peral;Jim Hughes;Siep Thomas

  • A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16

    S. T. Reeders;M. H. Breuning;K. E. Davies;R. D. Nicholls

  • Unified Criteria for Ultrasonographic Diagnosis of ADPKD

    York Pei;James Obaji;Annie Dupuis;Andrew D. Paterson

  • Mutations in ABCC6 cause pseudoxanthoma elasticum.

    A.A. Bergen;A.S. Plomp;E.J. Schuurman;S. Terry

  • Comparison of phenotypes of polycystic kidney disease types 1 and 2

    Nick Hateboer;Marjan A v Dijk;Nadja Bogdanova;Eliecer Coto

  • A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.

    Njajou Ot;Vaessen N;Joosse M;Berghuis B

  • Conjunction dysfunction: CBP/p300 in human disease

    Rachel H Giles;Dorien J.M Peters;Martijn H Breuning

  • Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

    Jeroen H. Roelfsema;Stefan J. White;Yavuz Ariyürek;Deborah Bartholdi

  • Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.

    Yvonne M C Hendriks;Anja Wagner;Hans Morreau;Fred Menko

  • Clinical findings with implications for genetic testing in families with clustering of colorectal cancer.

    JT Wijnen;Hfa Vasen;PM Khan;AH Zwinderman

  • Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

    Cornelis A. Albers;Cornelis A. Albers;Cornelis A. Albers;Dirk S. Paul;Harald Schulze;Kathleen Freson

  • Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

    Johannes G. Dauwerse;Jill Dixon;Saskia Seland;Claudia A L Ruivenkamp

  • Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

    Gijs W E Santen;Emmelien Aten;Yu Sun;Rowida Almomani

  • Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease.

    Irma S. Lantinga-van Leeuwen;Johannes G. Dauwerse;Hans J. Baelde;Wouter N. Leonhard

  • Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

    D.J.M. Peters;L. Spruit;J.J. Saris;D. Ravine

  • Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

    E.K. Bijlsma;A.C.J. Gijsbers;J.H.M. Schuurs-Hoeijmakers;A. van Haeringen

  • Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease.

    Alex Odermatt;Peter E. M. Taschner;Vijay K. Khanna;Herman F. M. Busch

Frequent Co-Authors

Dorien J.M. Peters
Dorien J.M. Peters Leiden University Medical Center
Claudia A. L. Ruivenkamp
Claudia A. L. Ruivenkamp Leiden University Medical Center
Egbert Bakker
Egbert Bakker Leiden University Medical Center
Johan T. den Dunnen
Johan T. den Dunnen Leiden University Medical Center
Raoul C.M. Hennekam
Raoul C.M. Hennekam University of Amsterdam
Hans F. A. Vasen
Hans F. A. Vasen Leiden University
Juul T. Wijnen
Juul T. Wijnen Leiden University Medical Center
Peter L. Pearson
Peter L. Pearson Universidade de São Paulo
Gert-Jan B. van Ommen
Gert-Jan B. van Ommen Leiden University Medical Center
Rachel H. Giles
Rachel H. Giles Utrecht University

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