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S. Maas · SciRah

Researcher profile · Semantic Scholar

S. Maas

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S. Maas — researcher profile on SciRah

h-index: 35
Works: 82
Citations: 4,145

Most-cited papers

Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
F. Brioude, J. Kalish, A. Mussa, A. Foster +37 more
2018Nature Reviews Endocrinology535 citations Open access
Semantic Scholar
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
J. Van Houdt, B. Nowakowska, S. Sousa, B. V. van Schaik +45 more
2012Nature Genetics245 citations
Semantic Scholar
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
J. Soblet, Jaakko Kangas, Marjut Natynki, A. Mendola +25 more
2017Journal of Investigative Dermatology207 citations Open access
Semantic Scholar
Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study.
M. Doornbos, S. Maas, J. Mcdonnell, J. Vermeiden +1 more
2007Human Reproduction205 citations Open access
Semantic Scholar
Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups
S. Maas, F. Vansenne, D. Kadouch, A. Ibrahim +6 more
2016American Journal of Medical Genetics. Part A182 citations Open access
Semantic Scholar
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.
J. Bliek, S. Maas, J. Ruijter, R. Hennekam +3 more
2001Human Molecular Genetics179 citations Open access
Semantic Scholar
Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma
J. Kalish, L. Doros, L. Helman, R. Hennekam +12 more
2017Clinical Cancer Research172 citations Open access
Semantic Scholar
High rate of mosaicism in individuals with Cornelia de Lange syndrome
S. Huisman, E. Redeker, S. Maas, M. Mannens +1 more
2013Journal of Medical Genetics140 citations
Semantic Scholar
SYNGAP1 encephalopathy
D. R. Vlaskamp, B. J. Shaw, R. Burgess, D. Mei +24 more
2018Neurology132 citations Open access
Semantic Scholar
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
P. J. van der Sluijs, S. Jansen, S. Vergano, Miho Adachi-Fukuda +101 more
2018Genetics in Medicine125 citations Open access
Semantic Scholar
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
P. Fergelot, M. V. van Belzen, J. Van Gils, A. Afenjar +49 more
2016American Journal of Medical Genetics. Part A122 citations Open access
Semantic Scholar
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
Celia Zazo Seco, Mieke Wesdorp, I. Feenstra, R. Pfundt +26 more
2016European Journal of Human Genetics121 citations Open access
Semantic Scholar
Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells
J. Bliek, M. Alders, S. Maas, R. Oostra +8 more
2009European Journal of Human Genetics106 citations Open access
Semantic Scholar
Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS).
J. Bliek, C. Gicquel, S. Maas, V. Gaston +2 more
2004Jornal de Pediatria91 citations
Semantic Scholar
UvA-DARE ( Digital Academic Repository ) Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome
S. Maas, M. Lombardi, A. V. van Essen, E. Wakeling +5 more
200982 citations
Semantic Scholar
Surgical treatment of macroglossia in patients with Beckwith-Wiedemann syndrome: a 20-year experience and review of the literature.
D. Kadouch, S. Maas, L. Dubois, C. V. D. van der Horst
2012International Journal of Oral & Maxillofacial Surgery78 citations
Semantic Scholar
Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy
A. O'Donnell-Luria, L. Pais, V. Faundes, J. Wood +81 more
2019bioRxiv74 citations Open access
Semantic Scholar
Further delineation of Malan syndrome
M. Priolo, D. Schanze, K. Tatton-Brown, P. Mulder +50 more
2018Human Mutation69 citations Open access
Semantic Scholar
Identifying candidate Hirschsprung disease-associated RET variants.
G. Burzynski, I. Nolte, Agnes Bronda, Krista K. Bos +8 more
2005American Journal of Human Genetics67 citations Open access
Semantic Scholar
A genome-wide DNA methylation signature for SETD1B-related syndrome
I. Krzyzewska, S. Maas, P. Henneman, K. V. d. Lip +23 more
2019Clinical Epigenetics60 citations Open access
Semantic Scholar
Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2
G. Burzynski, I. Nolte, J. Osinga, I. Ceccherini +7 more
2004European Journal of Human Genetics59 citations
Semantic Scholar
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
N. de Rocker, S. Vergult, D. Koolen, Eva Z. Jacobs +32 more
2014Genetics in Medicine57 citations Open access
Semantic Scholar
Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients
N. Zwaveling-Soonawala, M. Alders, A. Jongejan, Lidija Kovačič +5 more
2018Journal of Clinical Endocrinology and Metabolism53 citations Open access
Semantic Scholar
Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
L. Avrahami, S. Maas, M. Pasmanik-Chor, L. Rainshtein +5 more
2008Clinical Genetics51 citations
Semantic Scholar
EEC syndrome and genitourinary anomalies: an update.
S. Maas, T. D. de Jong, P. Buss, R. Hennekam
1996American journal of medical genetics50 citations
Semantic Scholar
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases
F. Novara, Berardo Rinaldi, S. Sisodiya, A. Coppola +17 more
2017European Journal of Human Genetics49 citations Open access
Semantic Scholar
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
Lot Snijders Blok, T. Kleefstra, H. Venselaar, S. Maas +34 more
2019American Journal of Human Genetics48 citations Open access
Semantic Scholar
Nomenclature and Definition in Asymmetric Regional Body Overgrowth
J. Kalish, L. Biesecker, F. Brioude, M. Deardorff +15 more
2017American Journal of Medical Genetics. Part A48 citations Open access
Semantic Scholar
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.
H. Kroes, P. V. van Zon, D. F. van de Putte, M. Nelen +11 more
2008European Journal of Medical Genetics43 citations
Semantic Scholar
Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions.
J. Bliek, S. Snijder, S. Maas, A. Polstra +4 more
2009European Journal of Medical Genetics42 citations
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
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
Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasia.
J. Bliek, S. Maas, M. Alders, J. Merks +1 more
2008Jornal de Pediatria39 citations
Semantic Scholar
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment
J. Smits, Jaap Oostrik, A. Beynon, S. Kant +15 more
2018Human Genetics38 citations Open access
Semantic Scholar
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
A. Dingemans, Kim M. G. Truijen, Sam van de Ven, R. Bernier +31 more
2022Translational Psychiatry37 citations Open access
Semantic Scholar
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
Lianne C. Krab, Í. Marcos-Alcalde, Melissa Assaf, M. Balasubramanian +22 more
2020Human Genetics35 citations Open access
Semantic Scholar
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
M. Jeanne, Hélène Demory, Aubin Moutal, M. Vuillaume +37 more
2021American Journal of Human Genetics31 citations Open access
Semantic Scholar
Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood.
M. Alders, S. Maas, D. Kadouch, K. van der Lip +3 more
2014European Journal of Medical Genetics30 citations
Semantic Scholar
Taste and speech following surgical tongue reduction in children with Beckwith-Wiedemann syndrome.
S. Maas, D. Kadouch, Anne-Claire C. M. Masselink, C. V. D. van der Horst
2016Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery29 citations
Semantic Scholar
Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
P. Mulder, I. V. van Balkom, A. Landlust, M. Priolo +54 more
2020Journal of Intellectual Disability Research27 citations Open access
Semantic Scholar
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
Eline A. Verberne, Shu-Xiang Goh, J. England, Manon van Ginkel +36 more
2020Genetics in Medicine25 citations Open access
Semantic Scholar
Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?
S. Maas, J. Hoovers, Marleen E. van Seggelen, Daria M. Menzel +1 more
2000Clinical Dysmorphology23 citations
Semantic Scholar
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
A. R. Duncan, A. Vitobello, Stephan C. Collins, Valerie E. Vancollie +26 more
2020American Journal of Human Genetics22 citations Open access
Semantic Scholar
University of Groningen Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease
L. Petrova, E. Brosens, Colin Harrison, Tara D. Wabbersen +13 more
201821 citations
Semantic Scholar
Hematopoietic stem cell transplantation in a patient with proteasome-associated auto-inflammatory syndrome (PRAAS).
Dorit Verhoeven, D. Schonenberg-Meinema, F. Ebstein, J. J. Papendorf +11 more
2021Journal of Allergy and Clinical Immunology20 citations Open access
Semantic Scholar
Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics
I. Krzyzewska, M. Alders, S. Maas, J. Bliek +7 more
2019Clinical Epigenetics20 citations Open access
Semantic Scholar
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome
R. Møller, L. Jensen, S. Maas, J. Filmus +27 more
2013Human Genetics19 citations Open access
Semantic Scholar
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder
P. Blackburn, F. Ebstein, Tzung-Chien Hsieh, M. Motta +75 more
2024Annals of Neurology17 citations Open access
Semantic Scholar
Opposite effects on facial morphology due to gene dosage sensitivity
P. Hammond, S. McKee, M. Suttie, J. Allanson +9 more
2014Human Genetics17 citations Open access
Semantic Scholar
Intrauterine Fetal Death Due to Farber Disease: Case Report
G. van Lijnschoten, J. Groener, S. Maas, Y. Ben-yoseph +2 more
2000Pediatric and Developmental Pathology17 citations
Semantic Scholar

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