Suzanna M. Frints

Maastricht, LI, Netherlands

Last Updated: 09/26/2026

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Found 14 publications

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.

Journal: Nature communications

Published: January 28, 2022

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Journal: Human mutation

Published: February 09, 2019

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 09, 2018

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.

Journal: Molecular psychiatry

Published: November 23, 2017

What if the sperm donor has a hereditary disease? Informed consent needed for sharing medical information

What if the sperm donor has a hereditary disease? Informed consent needed for sharing medical information

Journal: Nederlands tijdschrift voor geneeskunde

Published: May 18, 2017

Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination.

Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination.

Journal: Clinical chemistry

Published: June 17, 2015

Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes.

Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes.

Journal: Public health genomics

Published: December 18, 2014

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Journal: Molecular psychiatry

Published: August 04, 2014

In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells.

In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells.

Journal: Molecular psychiatry

Published: January 19, 2014

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

Journal: European journal of human genetics : EJHG

Published: December 02, 2013

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

Journal: Journal of medical genetics

Published: May 07, 2013

Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012.

Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012.

Journal: Human reproduction update

Published: February 12, 2013

Showing 1-12 of 14

Last Updated: 09/26/2026