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S. Frints · SciRah

Researcher profile · Semantic Scholar

S. Frints

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S. Frints — researcher profile on SciRah

h-index: 21
Works: 33
Citations: 2,830

Most-cited papers

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
P. Strømme, M. Mangelsdorf, M. Shaw, K. Lower +13 more
2002Nature Genetics443 citations
Semantic Scholar
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
K. Devriendt, Annette S. Kim, G. Mathijs, S. Frints +8 more
2001Nature Genetics431 citations
Semantic Scholar
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
A. Carrié, Lin Jun, T. Bienvenu, M. Vinet +18 more
1999Nature Genetics302 citations
Semantic Scholar
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
H. Hu, S. Haas, J. Chelly, H. Van Esch +80 more
2015Molecular Psychiatry296 citations Open access
Semantic Scholar
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
R. Zemni, T. Bienvenu, M. Vinet, A. Sefiani +22 more
2000Nature Genetics251 citations
Semantic Scholar
Detection of genomic copy number changes in patients with idiopathic mental retardation by high‐resolution X‐array‐CGH: important role for increased gene dosage of XLMR genes
G. Froyen, H. Van Esch, Marijke Bauters, K. Hollanders +5 more
2007Human Mutation196 citations Open access
Semantic Scholar
CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior.
S. Frints, P. Marynen, D. Hartmann, J. Fryns +9 more
2003Human Molecular Genetics141 citations
Semantic Scholar
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH
D. Lugtenberg, A. D. de Brouwer, T. Kleefstra, Astrid R. Oudakker +12 more
2005Journal of Medical Genetics114 citations Open access
Semantic Scholar
X‐linked mental retardation: vanishing boundaries between non‐specific (MRX) and syndromic (MRXS) forms
S. Frints, G. Froyen, P. Marynen, J. Fryns
2002Clinical Genetics83 citations
Semantic Scholar
NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation.
Lin Jun, S. Frints, H. Duhamel, A. Herold +5 more
2001Current Biology73 citations Open access
Semantic Scholar
MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression
S. Frints, S. Lenzner, Mareike Bauters, L. Jensen +20 more
2008European Journal of Human Genetics71 citations
Semantic Scholar
LPS-induced chorioamnionitis and antenatal corticosteroids modulate Shh signaling in the ovine fetal lung.
J. Collins, E. Kuypers, I. Nitsos, J. Pillow +8 more
2012American Journal of Physiology - Lung cellular and Molecular Physiology52 citations Open access
Semantic Scholar
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients
I. Longo, S. Frints, J. Fryns, I. Meloni +8 more
2003Journal of Medical Genetics49 citations Open access
Semantic Scholar
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
E. Leitão, Christopher Schröder, I. Parenti, C. Dalle +33 more
2022Nature Communications44 citations Open access
Semantic Scholar
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus
Federica Maria Valente, A. Sparago, A. Freschi, K. Hill-Harfe +16 more
2019Genetics in Medicine41 citations Open access
Semantic Scholar
Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome.
S. Frints, G. Froyen, P. Marynen, D. Willekens +2 more
2002American journal of medical genetics41 citations
Semantic Scholar
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
S. Frints, F. Hennig, R. Colombo, S. Jacquemont +34 more
2019Human Mutation40 citations Open access
Semantic Scholar
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
S. Frints, Aysegul Ozanturk, Germán Rodríguez Criado, U. Grasshoff +41 more
2019Molecular Psychiatry35 citations Open access
Semantic Scholar
De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly.
S. Frints, E. Schoenmakers, Eric Smeets, Paul Petit +1 more
1998American journal of medical genetics31 citations
Semantic Scholar
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel‐Gruber syndrome
V. Frank, Nadina Ortiz Brüchle, S. Mager, S. Frints +13 more
2007Human Mutation28 citations Open access
Semantic Scholar
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 Gene
S. Frints, Jun Lin, J. Fryns, K. Devriendt +14 more
2003American Journal of Medical Genetics. Part A24 citations
Semantic Scholar
Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations.
S. Frints, J. Fryns, L. Lagae, Maria Syrrou +2 more
2001Annales de Genetique19 citations
Semantic Scholar
Clinical study and haplotype analysis in two brothers with Partington syndrome.
S. Frints, M. Borghgraef, G. Froyen, P. Marynen +1 more
2002American journal of medical genetics15 citations
Semantic Scholar
Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination.
Elke Mersy, B. Faas, Sabine Spierts, Leonie Houben +4 more
2015Clinical Chemistry11 citations Open access
Semantic Scholar
A novel X-linked severe chronic neutropenia syndrome maps to Xp11.3-q21.3
P. Vandenberghe, G. Matthijs, S. Frints, Geg Verhorf +3 more
20001 citations
Semantic Scholar
Systematic analysis and prediction of genes associated with disorders on chromosome X
E. Leitão, Christopher Schröder, I. Parenti, C. Dalle +33 more
2022medRxiv0 citations Open access
Semantic Scholar
Identification of new genes and genetic mechanisms in patients with X-linked mental retardation
Marijke Bauters, H. Van Esch, S. Frints, P. Van Hummelen +2 more
20060 citations
Semantic Scholar
The long-chain fatty acid-coa ligase 4 (FACL4) gene is mutated in family MRX68
S. Frints, G. Froyen, J. Fryns, M. Borghgraef +9 more
20040 citations
Semantic Scholar
Neurocognitive aspects in nonspecific mental retardation: a proposal for phenotyping new XLMR genes
M. Borghgraef, B. De Vos, Ilse Eykens, S. Frints +2 more
20020 citations
Semantic Scholar
SES17.02 Behavioural Phenotypes in Different Forms of X-linked Mental Retardation
J. Fryns, M. Borghgraef, S. Frints, Jean Steyaert +1 more
2000European psychiatry0 citations Open access
Semantic Scholar
Research data on cognitive and behavioural characteristics in families with non-specific mental retardation
M. Borghgraef, R. Wouters, J. Steyaert, S. Frints +3 more
20000 citations
Semantic Scholar
Clinical and diagnostic evaluation of a population of MR patients livinv in foster families
S. Claes, L. V. D. Van Den Berghe, G. Van Buggenhout, K. Devriendt +8 more
19970 citations
Semantic Scholar
Micro/anophthalmus in Goltz syndrome, follow-up of a male from birth to adolescence
S. Frints, J. Fryns
19960 citations
Semantic Scholar

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