Saskia M. Maas

4.0k citations

26 papers · 906 indexed · h-index 18

Genetics top 5%
- Genetic Syndromes and Imprinting 6
- Digestive system and related health 3
- Genetic and rare skin diseases. 2
Pediatrics, Perinatology and Child Health top 5%
- Prenatal Screening and Diagnostics 5
Gastroenterology top 10%
Molecular Biology
- Epigenetics and DNA Methylation 7
- Hedgehog Signaling Pathway Studies 3
- RNA regulation and disease 2
Developmental Biology
- Congenital limb and hand anomalies 2

Co-authors: Marcel M. A. M. Mannens Jet Bliek Raoul C. M. Hennekam F. Stöckmann R. Lamberts G. Brunner W. Creutzfeldt Mariëlle Alders
Cited by: Genetics Pediatrics, Perinatology and Child Health Gastroenterology
Journals: Gastroenterology (1 paper)The Journal of Clinical Endocrinology & Metabolism (2 papers)Biochemical and Biophysical Research Communications (1 paper)
Partner nations: Netherlands United Kingdom United States

In The Last Decade

Saskia M. Maas

26 papers receiving 871 citations

Peers

Countries citing papers authored by Saskia M. Maas

Since Specialization

Citations

This map shows the geographic impact of Saskia M. Maas's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Saskia M. Maas with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Saskia M. Maas more than expected).

Fields of papers citing papers by Saskia M. Maas

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Saskia M. Maas. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Saskia M. Maas. The network helps show where Saskia M. Maas may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Saskia M. Maas, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Saskia M. Maas Line = papers co-authored together Saskia M. Maas links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature International Journal of Molecular Sciences ·Liselot van der Laan,Kathleen Rooney,Sadegheh Haghshenas,Ananília Silva,Haley McConkey,Raissa Relator,Michael A. Levy,Irene Valenzuela,Laura Trujillano,Amaia Lasa‐Aranzasti,Berta Campos,Neus Castells,Eline A. Verberne,Saskia M. Maas,Mariëlle Alders,Marcel M. A. M. Mannens,Mieke M. van Haelst,Bekim Sadiković,Peter Henneman	2023	3
2	Hematopoietic stem cell transplantation in a patient with proteasome-associated autoinflammatory syndrome (PRAAS) Journal of Allergy and Clinical Immunology ·Dorit Verhoeven,Dieneke Schonenberg‐Meinema,Frédéric Ebstein,Jonas Johannes Papendorf,Paul A. Baars,Ester M. M. van Leeuwen,Machiel H. Jansen,Arjan C. Lankester,Mirjam van der Burg,Sandrine Florquin,Saskia M. Maas,Silvana van Koningsbruggen,Elke Krüger,J. Merlijn van den Berg,Taco W. Kuijpers	2021	17
3	Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients The Journal of Clinical Endocrinology & Metabolism ·Nitash Zwaveling‐Soonawala,Mariëlle Alders,Aldo Jongejan,Lidija Kovačič,Floor A.M. Duijkers,Saskia M. Maas,Eric Fliers,A S Paul van Trotsenburg,Raoul C. M. Hennekam	2017	43
4	Polyhydramnios in isolated oral cleft pregnancies: incidence and outcome in a retrospective study Prenatal Diagnosis ·Anne Louise Depla,Corstiaan C. Breugem,Chantal M.A.M. van der Horst,Roel de Heus,Marie‐José H. van den Boogaard,Saskia M. Maas,Eva Pajkrt,Mireille N. Bekker	2016	6
5	Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood European Journal of Medical Genetics ·Mariëlle Alders,Saskia M. Maas,D.J. Kadouch,K. Lip,Jet Bliek,Chantal M.A.M. van der Horst,Marcel M. A. M. Mannens	2014	20
6	Opposite effects on facial morphology due to gene dosage sensitivity Human Genetics ·Peter Hammond,Shane McKee,Michael Suttie,Judith Allanson,Jan-Maarten Cobben,Saskia M. Maas,Oliver Quarrell,Ann C. M. Smith,M. E. Suzanne Lewis,May Tassabehji,Sanjay M. Sisodiya,Teresa Mattina,Raoul C. M. Hennekam	2014	11
7	Surgical treatment of macroglossia in patients with Beckwith–Wiedemann syndrome: a 20-year experience and review of the literature International Journal of Oral and Maxillofacial Surgery ·D.J. Kadouch,Saskia M. Maas,L. Dubois,Chantal M.A.M. van der Horst	2011	52
8	Enlarged nuchal translucency in chromosomally normal fetuses: strong association with orofacial clefts Ultrasound in Obstetrics and Gynecology ·E. Timmerman,Eva Pajkrt,Saskia M. Maas,C. M. Bilardo	2010	20
9	Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions European Journal of Medical Genetics ·Jet Bliek,Simone Snijder,Saskia M. Maas,Abeltje M. Polstra,K. Lip,Mariëlle Alders,Alida C. Knegt,Marcel M. A. M. Mannens	2009	49
10	Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells European Journal of Human Genetics ·Jet Bliek,Mariëlle Alders,Saskia M. Maas,Roelof‐Jan Oostra,Deborah Mackay,K. Lip,Johnatan L Callaway,Alice S. Brooks,Sandra van ‘t Padje,A. Westerveld,N. J. Leschot,Marcel M. A. M. Mannens	2009	74
11	Phenotype and genotype in 17 patients with Goltz–Gorlin syndrome Journal of Medical Genetics ·Saskia M. Maas,Maria Lombardi,A. J. van Essen,Emma Wakeling,B. Castle,I. Karen Temple,Vibhore Kumar,Karin Writzl,Raoul C. M. Hennekam	2009	53
12	Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype Clinical Genetics ·Limor Avrahami,Saskia M. Maas,Metsada Pasmanik‐Chor,Limor Rainshtein,Nurit Magal,JHS Smitt,Jan van Marle,M Shohat,Lina Basel‐Vanagaite	2008	40
13	Epigenotype, Phenotype, and Tumors in Patients with Isolated Hemihyperplasia The Journal of Pediatrics ·Jet Bliek,Saskia M. Maas,Mariel Alders,Johannes H. M. Merks,Marcel M. A. M. Mannens	2008	23
14	Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype The American Journal of Human Genetics ·Jet Bliek,Pauline Terhal,Marie-José van den Bogaard,Saskia M. Maas,Ben C.J. Hamel,Georgette B. Salieb–Beugelaar,Marleen Simon,Tom G.W. Letteboer,Jasper van der Smagt,Hester Kroes,Marcel M. A. M. Mannens	2006	151
15	Patched mutations and hairy skin patches: A new sign in Gorlin syndrome American Journal of Medical Genetics Part A ·Louise C. Wilson,Ekundayo Ajayi‐Obe,Birgitta Bernhard,Saskia M. Maas	2006	18
16	Identifying Candidate Hirschsprung Disease–Associated RET Variants The American Journal of Human Genetics ·Grzegorz Burzynski,Ilja M. Nolte,Agnes Bronda,Krista K. Bos,Jan Osinga,Iván Plaza-Menacho,Bas Twigt,Saskia M. Maas,Alice S. Brooks,B.G.M. Joke Verheij,H.C.M. Charles Buys,Robert M.W. Hofstra	2005	44
17	Regulatory Regions in the Rat Lactase‐Phlorizin Hydrolase Gene that Control Cell‐Specific Expression Journal of Pediatric Gastroenterology and Nutrition ·Menno Verhave,Stephen D. Krasinski,Sara I. Christian,Sandrijn van Schaik,Gijs R. van den Brink,Edwina M. H. Doting,Saskia M. Maas,Katja C. Wolthers,Richard J. Grand,Robert K. Montgomery	2004	1
18	EEC syndrome and genitourinary anomalies: An update American Journal of Medical Genetics ·Saskia M. Maas,Tom P.V.M. de Jong,P W Buss,Raoul C. M. Hennekam	1996	34
19	Further Characterization of the 5′ - Flanking Region of the Rat Lactase-Phlorhizin Hydrolase Gene Biochemical and Biophysical Research Communications ·Menno Verhave,Stephen D. Krasinski,Saskia M. Maas,Frans J. Smiers,Kanchan Mishra,N.G. Breeuwsma,H Y Naim,Richard J. Grand	1995	17
20	Long-Term Omeprazole Treatment in Man: Effects on Gastric Endocrine Cell Populations Digestion ·R. Lamberts,W. Creutzfeldt,F. Stöckmann,U. Jacubaschke,Saskia M. Maas,G. Brunner	1988	126

About Saskia M. Maas

Saskia M. Maas is a scholar working on Developmental Biology, Genetics and Pediatrics, Perinatology and Child Health, having authored 26 papers that have together received 906 indexed citations. Recurring topics across this work include Epigenetics and DNA Methylation (7 papers), Genetic Syndromes and Imprinting (6 papers), Prenatal Screening and Diagnostics (5 papers), Hedgehog Signaling Pathway Studies (3 papers), Digestive system and related health (3 papers), Congenital limb and hand anomalies (2 papers), RNA regulation and disease (2 papers) and Genetic and rare skin diseases. (2 papers). The work is most often cited by research in Genetics (549 citations), Pediatrics, Perinatology and Child Health (304 citations) and Gastroenterology (65 citations). Saskia M. Maas has collaborated with scholars based in Netherlands, United Kingdom and United States. Frequent co-authors include Marcel M. A. M. Mannens, Jet Bliek, Raoul C. M. Hennekam, F. Stöckmann, R. Lamberts, G. Brunner, W. Creutzfeldt, Mariëlle Alders, Chantal M.A.M. van der Horst and D.J. Kadouch. Their work appears in journals such as Gastroenterology, The Journal of Clinical Endocrinology & Metabolism and Biochemical and Biophysical Research Communications.

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