Publications by authors named "Raoul Hennekam"

97Publications

Pathophysiology of premature aging characteristics in Mendelian progeroid disorders.

Eur J Med Genet 2020 Nov 10;63(11):104028. Epub 2020 Aug 10.

Department of Paediatrics, Room H7-236, Amsterdam UMC - location AMC, Meibergdreef 9, 1105AZ, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104028DOI Listing
November 2020

The external phenotype of aging.

Eur J Med Genet 2020 Nov 26;63(11):103995. Epub 2020 Jul 26.

Department of Paediatrics, Room H7-236, Amsterdam UMC - location AMC, Meibergdreef 9, 1105AZ, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103995DOI Listing
November 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058829PMC
March 2020

Variants in nuclear factor I genes influence growth and development.

Am J Med Genet C Semin Med Genet 2019 12 15;181(4):611-626. Epub 2019 Nov 15.

Department of Pediatrics, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.c.31747DOI Listing
December 2019

Thyroid function in males with fragile X syndrome.

J Pediatr Endocrinol Metab 2019 Aug;32(8):903-905

Department of Pediatric Endocrinology, Amsterdam University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1515/jpem-2019-0224DOI Listing
August 2019

Experts reflecting on the duty to recontact patients and research participants; why professionals should take the lead in developing guidelines.

Eur J Med Genet 2020 Feb 20;63(2):103642. Epub 2019 Mar 20.

Amsterdam UMC, Meibergdreef 9, 1105AZ, Amsterdam, Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2019.03.006DOI Listing
February 2020

Multiple tumors due to mosaic genome-wide paternal uniparental disomy.

Pediatr Blood Cancer 2019 06 18;66(6):e27715. Epub 2019 Mar 18.

Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1002/pbc.27715DOI Listing
June 2019

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.

Am J Med Genet A 2019 04 8;179(4):634-638. Epub 2019 Feb 8.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato (CA), Italy.

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http://dx.doi.org/10.1002/ajmg.a.61052DOI Listing
April 2019

Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.

JIMD Rep 2019 23;45:65-69. Epub 2018 Oct 23.

Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry, Genetics and Pediatrics, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands.

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http://link.springer.com/10.1007/8904_2018_138
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http://dx.doi.org/10.1007/8904_2018_138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336675PMC
October 2018

Objectifying Micrognathia Using Three-Dimensional Photogrammetric Analysis.

J Craniofac Surg 2018 Nov;29(8):2106-2109

Big Data Institute and Nuffield Department of Obstetrics and Gynecology, University of Oxford, Oxford.

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http://dx.doi.org/10.1097/SCS.0000000000005056DOI Listing
November 2018

Development, behaviour and autism in individuals with SMC1A variants.

J Child Psychol Psychiatry 2019 03 8;60(3):305-313. Epub 2018 Oct 8.

Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands.

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http://doi.wiley.com/10.1111/jcpp.12979
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http://dx.doi.org/10.1111/jcpp.12979DOI Listing
March 2019

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.

Am J Med Genet A 2018 09 8;176(9):2028-2033. Epub 2018 Sep 8.

Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.

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http://dx.doi.org/10.1002/ajmg.a.40379DOI Listing
September 2018

A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome.

Am J Med Genet A 2018 11 8;176(11):2494-2500. Epub 2018 Sep 8.

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

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http://dx.doi.org/10.1002/ajmg.a.40508DOI Listing
November 2018

M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018).

Am J Med Genet A 2018 Aug 28;176(8):1703-1705. Epub 2018 Jul 28.

Teratology Unit, Departments of Pediatrics, Pathology and Obstetrics, University of Michigan, Ann Arbor, Michigan.

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http://dx.doi.org/10.1002/ajmg.a.38845DOI Listing
August 2018

Benign and malignant tumors in Rubinstein-Taybi syndrome.

Am J Med Genet A 2018 03 23;176(3):597-608. Epub 2018 Jan 23.

Department of Pathology, VU University Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.38603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838508PMC
March 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

Consequences of diagnosing a tumor predisposition syndrome in children with cancer: A literature review.

Pediatr Blood Cancer 2018 Jan 22;65(1). Epub 2017 Aug 22.

Department of Pediatric Oncology, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/pbc.26718DOI Listing
January 2018

Self-injurious behavior.

Neurosci Biobehav Rev 2018 Jan 8;84:483-491. Epub 2017 Jul 8.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.

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http://dx.doi.org/10.1016/j.neubiorev.2017.02.027DOI Listing
January 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

Correspondence to Gripp et al. nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.

Am J Med Genet A 2017 08 24;173(8):2293-2295. Epub 2017 May 24.

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

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http://dx.doi.org/10.1002/ajmg.a.38290DOI Listing
August 2017

Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.

Am J Med Genet A 2017 Jul 30;173(7):1896-1902. Epub 2017 Apr 30.

Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38124DOI Listing
July 2017

Wiedemann-Rautenstrauch syndrome: A phenotype analysis.

Am J Med Genet A 2017 Jul 26;173(7):1763-1772. Epub 2017 Apr 26.

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

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http://dx.doi.org/10.1002/ajmg.a.38246DOI Listing
July 2017

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.

Biochim Biophys Acta Mol Basis Dis 2017 03 24;1863(3):721-730. Epub 2016 Dec 24.

Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Departments of Clinical Chemistry, Pediatrics and Clinical Genetics, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2016.12.010DOI Listing
March 2017

Behaviour in Cornelia de Lange syndrome: a systematic review.

Dev Med Child Neurol 2017 04 18;59(4):361-366. Epub 2016 Dec 18.

Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, The Netherlands.

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http://dx.doi.org/10.1111/dmcn.13361DOI Listing
April 2017

The Dutch legal approach regarding health care decisions involving minors in the NGS days.

Eur J Hum Genet 2017 02 23;25(2):166. Epub 2016 Nov 23.

Department of Public Health, AMC, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2016.159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255957PMC
February 2017

Paediatric biobanking: Dutch experts reflecting on appropriate legal standards for practice.

Eur J Pediatr 2017 Jan 19;176(1):75-82. Epub 2016 Nov 19.

Department of Public Health, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00431-016-2810-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5219008PMC
January 2017

Mutations in TBL1X Are Associated With Central Hypothyroidism.

J Clin Endocrinol Metab 2016 12 7;101(12):4564-4573. Epub 2016 Sep 7.

Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.

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http://dx.doi.org/10.1210/jc.2016-2531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155687PMC
December 2016

Health-related quality of life in children with Robin sequence.

Am J Med Genet A 2017 Jan 20;173(1):54-61. Epub 2016 Sep 20.

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

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http://dx.doi.org/10.1002/ajmg.a.37968DOI Listing
January 2017

GAUDEAMUS IGITUR…In gratitude to John Carey for his stewardship of the American Journal of Medical Genetics 2001-2016.

Am J Med Genet A 2016 Oct 19;170(10):2501-2. Epub 2016 Aug 19.

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

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http://dx.doi.org/10.1002/ajmg.a.37760DOI Listing
October 2016

3D morphometry aids facial analysis of individuals with a childhood cancer.

Am J Med Genet A 2016 11 2;170(11):2905-2915. Epub 2016 Aug 2.

Genetics & Genomic Medicine, UCL Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37850DOI Listing
November 2016

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

Novel mutations cause an aggressive atypical neonatal progeria without progerin accumulation.

J Med Genet 2016 Nov 22;53(11):776-785. Epub 2016 Jun 22.

Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, Oviedo, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2015-103695DOI Listing
November 2016

Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.

Am J Med Genet A 2016 08 19;170(8):1989-2001. Epub 2016 May 19.

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

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http://dx.doi.org/10.1002/ajmg.a.37757DOI Listing
August 2016

Cow's milk allergy in Dutch children: an epigenetic pilot survey.

Clin Transl Allergy 2016 4;6:16. Epub 2016 May 4.

Department of Clinical Genetics, DNA-Diagnostics Laboratory, Amsterdam Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13601-016-0105-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855719PMC
May 2016

Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.

Orphanet J Rare Dis 2016 Apr 12;11:37. Epub 2016 Apr 12.

Department of Paediatrics and Translational Genetics, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-016-0422-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830011PMC
April 2016

Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.

Biochim Biophys Acta 2016 04 12;1862(4):754-762. Epub 2016 Jan 12.

Department of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

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http://dx.doi.org/10.1016/j.bbadis.2016.01.009DOI Listing
April 2016

Application of the Dutch, Finnish and British Screening Guidelines in a Cohort of Children with Growth Failure.

Horm Res Paediatr 2015 9;84(6):376-82. Epub 2015 Oct 9.

Department of Pediatrics, Tergooi Hospitals, Blaricum, The Netherlands.

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http://dx.doi.org/10.1159/000440652DOI Listing
October 2016

Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.

Am J Med Genet A 2015 Nov 20;167A(11):2508-15. Epub 2015 Jul 20.

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

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http://dx.doi.org/10.1002/ajmg.a.37248DOI Listing
November 2015

Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14.

Clin Endocrinol (Oxf) 2015 Nov 28;83(5):671-6. Epub 2015 Jul 28.

Department of Pediatric Endocrinology, VU Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1111/cen.12841DOI Listing
November 2015

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

Regulating biobanking with children's tissue: a legal analysis and the experts' view.

Eur J Hum Genet 2016 Jan 15;24(1):30-6. Epub 2015 Apr 15.

Departments of Paediatrics and Translational Genetics, AMC, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2015.59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795222PMC
January 2016

Etiology of non-immune hydrops fetalis: An update.

Am J Med Genet A 2015 May 25;167A(5):1082-8. Epub 2015 Feb 25.

Neonatal Intensive Care Unit, Department of Intensive Care, Gaslini Institute, Genoa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36988DOI Listing
May 2015

RELN rare variants in myoclonus-dystonia.

Mov Disord 2015 Mar 4;30(3):415-9. Epub 2015 Feb 4.

Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/mds.26070DOI Listing
March 2015

Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings.

Mol Syndromol 2014 Dec 25;5(6):299-303. Epub 2014 Sep 25.

Laboratory of Genetic Metabolic Diseasess, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1159/000366074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281573PMC
December 2014

Genetic susceptibility for cow's milk allergy in Dutch children: the start of the allergic march?

Clin Transl Allergy 2015 3;6. Epub 2016 Mar 3.

Department of Paediatric Respiratory Medicine and Allergy, Emma Children's Hospital, Amsterdam Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13601-016-0096-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4776421PMC
March 2016