Saskia M Maas

Saskia M Maas

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Saskia M Maas

Saskia M Maas

Publications by authors named "Saskia M Maas"

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 Jun 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Neurology 2019 Jan 12;92(2):e96-e107. Epub 2018 Dec 12.

From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u. angeborene Stoffwechselerkrankungen, Oldenburg, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Parkville, Australia.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340340PMC
January 2019

Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.

Gastroenterology 2018 07 28;155(1):118-129.e6. Epub 2018 Mar 28.

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands; Neural Development and Gastroenterology Units, UCL Institute of Child Health, London, UK. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2018.03.034DOI Listing
July 2018

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.

J Clin Endocrinol Metab 2018 02;103(2):415-428

Department of Pediatrics, Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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https://academic.oup.com/jcem/article/103/2/415/4642964
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http://dx.doi.org/10.1210/jc.2017-01660DOI Listing
February 2018

Variants in KAT6A and pituitary anomalies.

Am J Med Genet A 2017 09 21;173(9):2562-2565. Epub 2017 Jun 21.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.38330DOI Listing
September 2017

Polyhydramnios in isolated oral cleft pregnancies: incidence and outcome in a retrospective study.

Prenat Diagn 2017 Feb 24;37(2):162-167. Epub 2017 Jan 24.

Department of Obstetrics and Gynecology, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/pd.4983DOI Listing
February 2017

Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.

Am J Med Genet A 2016 09 15;170(9):2248-60. Epub 2016 Jul 15.

Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37801DOI Listing
September 2016

Taste and speech following surgical tongue reduction in children with Beckwith-Wiedemann syndrome.

J Craniomaxillofac Surg 2016 Jun 27;44(6):659-63. Epub 2016 Feb 27.

Academic Medical Center, Department of Plastic Reconstructive and Hand Surgery, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jcms.2016.02.010DOI Listing
June 2016

Etiology and pathogenesis of robin sequence in a large Dutch cohort.

Am J Med Genet A 2015 Sep 31;167A(9):1983-92. Epub 2015 May 31.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37154DOI Listing
September 2015

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

Am J Med Genet A 2015 Jun 21;167(6):1215-22. Epub 2015 Apr 21.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37044DOI Listing
June 2015

High rate of mosaicism in individuals with Cornelia de Lange syndrome.

J Med Genet 2013 May 15;50(5):339-44. Epub 2013 Mar 15.

Department of Pediatrics, Room H7-237, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2012-101477DOI Listing
May 2013

Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome.

Hum Mutat 2013 Mar 20;34(3):430-4. Epub 2012 Dec 20.

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.1002/humu.22252DOI Listing
March 2013

The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome?

Am J Med Genet A 2011 May 4;155A(5):1066-72. Epub 2011 Apr 4.

Department of Clinical Genetics, Academic Medical Centre, UVA, Amsterdam, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.33991
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http://dx.doi.org/10.1002/ajmg.a.33991DOI Listing
May 2011

The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.

J Clin Endocrinol Metab 2011 Feb 10;96(2):E356-9. Epub 2010 Nov 10.

Center for Human and Clinical Genetics-Department of Clinical Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1210/jc.2010-1505DOI Listing
February 2011

Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study.

Hum Reprod 2007 Sep 23;22(9):2476-80. Epub 2007 Jun 23.

Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/humrep/dem172DOI Listing
September 2007

Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.

Am J Med Genet A 2006 Dec;140(23):2625-30

Clinical & Molecular Genetics Unit, Institute of Child Health & Great Ormond Street Hospital, London, UK.

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http://doi.wiley.com/10.1002/ajmg.a.31374
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http://dx.doi.org/10.1002/ajmg.a.31374DOI Listing
December 2006

Further delineation of Frank-ter Haar syndrome.

Am J Med Genet A 2004 Dec;131(2):127-33

Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.30244
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http://dx.doi.org/10.1002/ajmg.a.30244DOI Listing
December 2004

Regulatory regions in the rat lactase-phlorizin hydrolase gene that control cell-specific expression.

J Pediatr Gastroenterol Nutr 2004 Sep;39(3):275-85

Division of Pediatric Gastroenterology and Nutrition, Department of Pediatrics, The Floating Hospital for Children, New England Medical Center Hospitals, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1097/00005176-200409000-00010DOI Listing
September 2004