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Siv Fokstuen

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report
2011 · Hanan Hamamy, Stylianos E. Antonarakis, et al. · Genetics in Medicine · 345
Prenatal diagnostic indicators of paternal uniparental disomy 14
2006 · Logos Curtis, Eric Antonelli, et al. · Prenatal Diagnosis · 93
The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age
2000 · Claudia Ginsburg, Siv Fokstuen, et al. · American Journal of Medical Genetics · 87
Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families
2014 · Periklis Makrythanasis, Mari Nelis, et al. · Human Mutation · 86
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The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics
2015 · J. Mogensen, J. P. van Tintelen, et al. · European Heart Journal · 82
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy
2008 · Siv Fokstuen, Robert Lyle, et al. · Human Mutation · 78
Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach
2015 · Matthias Wilhelm, Stephan A Bolliger, et al. · Swiss Medical Weekly · 69
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22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin
1998 · S Fokstuen, U Arbenz, et al. · Clinical Genetics · 66
Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty
1999 · Siv Fokstuen, Claudia Ginsburg, et al. · The Journal of Pediatrics · 62
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: Report of three patients
1997 · Siv Fokstuen, Armand Bottani, et al. · American Journal of Medical Genetics · 62
PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans
2017 · Pauline Le Tanno, Julie Breton, et al. · Journal of Medical Genetics · 60
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice
2011 · Siv Fokstuen, Analia Munoz, et al. · Journal of Medical Genetics · 46
FOXL2‐mutations in blepharophimosis‐ptosis—epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients
2002 · Siv Fokstuen, Stylianos E. Antonarakis, et al. · American Journal of Medical Genetics Part A · 33
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele‐de Vries syndrome)
2020 · Maria Teresa Carminho‐Rodrigues, Dora Steel, et al. · American Journal of Medical Genetics Part A · 32
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
2016 · S. Fokstuen, P. Makrythanasis, et al. · Human Genomics · 32
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Quantitative sequence analysis ofFBN1premature termination codons provides evidence for incomplete NMD in leukocytes
2009 · István Magyar, Dvora Colman, et al. · Human Mutation · 30
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Chromosomal rearrangements in patients with clinical features of Silver–Russell syndrome
2014 · Siv Fokstuen, Dieter Kotzot · American Journal of Medical Genetics Part A · 29
Presymptomatic testing in myotonic dystrophy: genetic counselling approaches
2001 · Siv Fokstuen, Jenny Myring, et al. · Journal of Medical Genetics · 23
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22q11.2 deletions in a series of patients with non‐selective congenital heart defects: incidence, type of defects and parental origin
1998 · S. Fokstuen, U. Arbenz, et al. · Clinical Genetics · 23
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Unilateral lobar pulmonary agenesis in sibs: Figure 1
2000 · SIV FOKSTUEN, ALBERT SCHINZEL · Journal of Medical Genetics · 21
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Titin-related familial dilated cardiomyopathy: factors associated with disease onset
2025 · Renee Johnson, Robert A Fletcher, et al. · European Heart Journal · 20
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Defining categories of actionability for secondary findings in next-generation sequencing
2016 · Celine Moret, Alex Mauron, et al. · Journal of Medical Ethics · 20
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder
2017 · K. Varvagiannis, S. Hanquinet, et al. · Neuropediatrics · 18
Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria
2011 · Sarah B. Pierce, Cailyn H. Spurrell, et al. · Proceedings of the National Academy of Sciences · 17
Eight years' experience of direct molecular testing for myotonic dystrophy in Wales
2001 · S. Fokstuen · Journal of Medical Genetics · 17
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Works count: 92
Citation count: 1,549
H-index: 20
I10-index: 28
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