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False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review

PloS one, 2016-01, Vol.11 (1), p.e0146794-e0146794

2016

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Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification

European journal of human genetics : EJHG, 2014-07, Vol.22 (7), p.856-858

2014

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Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype

Prenatal diagnosis, 2019-10, Vol.39 (11), p.1016-1025

2019

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Two Short Children Born Small for Gestational Age with Insulin-Like Growth Factor 1 Receptor Haploinsufficiency Illustrate the Heterogeneity of Its Phenotype

The journal of clinical endocrinology and metabolism, 2009-12, Vol.94 (12), p.4717-4727

2009

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The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents’ Experiences

Journal of genetic counseling, 2016-12, Vol.25 (6), p.1227-1234

2016

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Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

Prenatal diagnosis, 2018-11, Vol.38 (12), p.911-919

2018

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Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature

Ultrasound in obstetrics & gynecology, 2014-02, Vol.43 (2), p.139-146

2014

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Isolation and Partial Characterization of Antagonistic Peptides Produced by Paenibacillus sp. Strain B2 Isolated from the Sorghum Mycorrhizosphere

Applied and Environmental Microbiology, 2005-11, Vol.71 (11), p.6501-6507

2005

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Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT

Molecular cytogenetics, 2016-09, Vol.9 (1), p.69-69, Article 69

2016

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Omphalocele: comparison of outcome following prenatal or postnatal diagnosis

Ultrasound in obstetrics & gynecology, 2010-12, Vol.36 (6), p.687-692

2010

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Social and medical need for whole genome high resolution NIPT

Molecular genetics & genomic medicine, 2020-01, Vol.8 (1), p.e1062-n/a

2020

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Outcome of pregnancies complicated by oligohydramnios or anhydramnios of renal origin

Prenatal diagnosis, 2011-11, Vol.31 (11), p.1039-1045

2011

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How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies

Clinical genetics, 2021-12, Vol.100 (6), p.647-658

2021

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Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results

Prenatal diagnosis, 2024-04, Vol.44 (4), p.401-408

2024

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Obesity-associated mutations in the melanocortin 4 receptor provide novel insights into its function

Peptides (New York, N.Y. : 1980), 2005-10, Vol.26 (10), p.1909-1919

2005

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Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing

Clinical genetics, 2015-07, Vol.88 (1), p.25-31

2015

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Molecular Genetics of Human Obesity-Associated MC4R Mutations

Annals of the New York Academy of Sciences, 2003-06, Vol.994 (1), p.49-57

2003

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294 An F508del-stabilizing nanobody enhances rescue of CFTR function in cystic fibrosis bronchial epithelial cells treated with elexacaftor/tezacaftor/ivacaftor

Journal of cystic fibrosis, 2024-09, Vol.23, p.S156-S157

2024

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Clinical experience of unexpected findings in prenatal array testing

Biomarkers in medicine, 2016-08, Vol.10 (8), p.831-840

2016

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Prenatal and postnatal findings in small‐for‐gestational‐age fetuses without structural ultrasound anomalies at 18–24 weeks

Ultrasound in obstetrics & gynecology, 2017-03, Vol.49 (3), p.342-348

2017

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Evidence for Assembly of Prions with Left-Handed β-Helices into Trimers

Proceedings of the National Academy of Sciences - PNAS, 2004-06, Vol.101 (22), p.8342-8347

2004

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Isolation and structural characterization of polymyxin B components

Journal of Chromatography A, 2001-04, Vol.912 (2), p.369-373

2001

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Another Rare Prenatal Case of Post-Zygotic Mosaic Trisomy 17

American journal of medical genetics. Part A, 2013-05, Vol.161A (5), p.1196-1199

2013

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Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of MCPH4 to Chromosome 15

American journal of human genetics, 1999-11, Vol.65 (5), p.1465-1469

1999

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Visual depth processing in Williams-Beuren syndrome

Experimental brain research, 2005-10, Vol.166 (2), p.200-209

2005

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False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review

Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification

Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype

Two Short Children Born Small for Gestational Age with Insulin-Like Growth Factor 1 Receptor Haploinsufficiency Illustrate the Heterogeneity of Its Phenotype

The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents’ Experiences

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature

Isolation and Partial Characterization of Antagonistic Peptides Produced by Paenibacillus sp. Strain B2 Isolated from the Sorghum Mycorrhizosphere

Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT

Omphalocele: comparison of outcome following prenatal or postnatal diagnosis

Social and medical need for whole genome high resolution NIPT

Outcome of pregnancies complicated by oligohydramnios or anhydramnios of renal origin

How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies

Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results

Obesity-associated mutations in the melanocortin 4 receptor provide novel insights into its function

Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing

Molecular Genetics of Human Obesity-Associated MC4R Mutations

294 An F508del-stabilizing nanobody enhances rescue of CFTR function in cystic fibrosis bronchial epithelial cells treated with elexacaftor/tezacaftor/ivacaftor

Clinical experience of unexpected findings in prenatal array testing

Prenatal and postnatal findings in small‐for‐gestational‐age fetuses without structural ultrasound anomalies at 18–24 weeks

Evidence for Assembly of Prions with Left-Handed β-Helices into Trimers

Isolation and structural characterization of polymyxin B components

Another Rare Prenatal Case of Post-Zygotic Mosaic Trisomy 17

Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of MCPH4 to Chromosome 15

Visual depth processing in Williams-Beuren syndrome

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