P. Rump

发表

The genetic basis of DOORS syndrome: an exome-sequencing study

Jonathan E. Dickerson, Ariana E. Giuliano, J. Wiszniewska, 2014, The Lancet Neurology.

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Hagai Bergman, Dagmar Wieczorek, Zvi Israel, 2016, Nature Genetics.

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

L. Vissers, R. Pfundt, M. Reijnders, 2016, Nature Neuroscience.

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia

H. Brunner, A. Essen, P. Rump, 2008, European Journal of Human Genetics.

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

G. Schaaf, Jeroen A. A. Demmers, R. Poot, 2019, Brain : a journal of neurology.

Copy number variation in a hospital‐based cohort of children with epilepsy

C. V. van Ravenswaaij-Arts, P. Rump, O. Brouwer, 2017, Epilepsia open.

Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome

L. Vissers, J. Hehir-Kwa, B. D. de Vries, 2021, European Journal of Human Genetics.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Edwin Cuppen, Claire Redin, Ryan L. Collins, 2016, Nature Genetics.

The n-3 and n-6 Polyunsaturated Fatty Acid Composition of Plasma Phospholipids in Pregnant Women and Their Infants. Relationship with Maternal Linoleic Acid Intake

P. Rump, G. Hornstra, 2002, Clinical chemistry and laboratory medicine.

Essential fatty acid composition of plasma phospholipids and birth weight: a study in term neonates.

P. Rump, R. Mensink, A. Kester, 2001, The American journal of clinical nutrition.

Glucokinase-Maturity-Onset Diabetes of the Young en zwangerschap

P. Rump, T. Vriesendorp, H. Kip, 2017, Nederlands Tijdschrift voor Diabetologie.

The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome

P. Rump, L. Faivre, C. Thauvin-Robinet, 2011, Journal of Medical Genetics.

Potential programming of selected cardiometabolic risk factors at childhood by maternal polyunsaturated fatty acid availability in the MEFAB cohort.

M. Zeegers, P. Rump, M. Gielen, 2015, Prostaglandins, leukotrienes, and essential fatty acids.

Germline AGO2 mutations impair RNA interference and human neurological development

R. Pfundt, M. Reijnders, G. Meister, 2020, Nature Communications.

P. Kind, J. Hentschel, D. Mitter, 2018, Brain : a journal of neurology.

Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy.

C. V. van Ravenswaaij-Arts, P. Rump, O. Brouwer, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Tumor risk in Beckwith–Wiedemann syndrome: A review and meta‐analysis

M. Zeegers, P. Rump, A. V. van Essen, 2005, American journal of medical genetics. Part A.

Components of the insulin resistance syndrome in seven-year-old children: relations with birth weight and the polyunsaturated fatty acid content of umbilical cord plasma phospholipids

R. Heine, P. Rump, C. Popp‐Snijders, 2001, Diabetologia.

Leptin and phospholipid-esterified docosahexaenoic acid concentrations in plasma of women: observations during pregnancy and lactation

P. Rump, G. Hornstra, S. Otto, 2001, European Journal of Clinical Nutrition.

Insulin resistance, physical fitness, body composition and leptin concentration in 7-8 year-old children.

H. Kuipers, P. Rump, H. Keizer, 2008, Journal of science and medicine in sport.

A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect

J. Fock, A. Essen, P. Rump, 2005, Neurogenetics.

Body composition and cardiorespiratory fitness indicators in prepubescent boys and girls.

P. Rump, F. Verstappen, G. Hornstra, 2002, International journal of sports medicine.

Central 22q11.2 deletions

N. de Leeuw, W. Reardon, D. Lev, 2014, American journal of medical genetics. Part A.

Male patients affected by mosaic PCDH19 mutations: five new cases

G. Mancini, P. Rump, D. Lindhout, 2017, neurogenetics.

A novel mutation in MED12 causes FG syndrome (Opitz–Kaveggia syndrome)

P. Rump, O. Brouwer, R. Hordijk, 2011, Clinical genetics.

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.

A. Moorman, I. B. Mathijssen, P. Rump, 2010, Cardiovascular research.

Drayer’s syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter)

P. Rump, B. Sikkema-Raddatz, T. Dijkhuizen, 2008, Clinical genetics.

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

R. Pfundt, S. Szelinger, V. Narayanan, 2019, American journal of human genetics.

Essential fatty acid composition of plasma phospholipids and birth weight : a study in term neonates 1 – 3

P. Rump, R. Mensink, A. Kester, 2022 .

Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele

P. Rump, T. Letteboer, J. Verheij, 2006, American journal of medical genetics. Part A.

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

R. Pfundt, T. Strom, H. Brunner, 2016, Nature Genetics.

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

J. Opitz, C. Ricketts, F. Müller, 2012, Nature Genetics.

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

R. Hochstenbach, M. Poot, C. Kemner, 2011, neurogenetics.

Meta-analysis of 2,104 trios provides support for 10 novel candidate genes for intellectual disability

L. Vissers, R. Pfundt, M. Reijnders, 2016, bioRxiv.

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Juliane Hoyer, Bernt Popp, André Reis, 2017, American journal of human genetics.

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

M. Swertz, R. Sinke, B. Alizadeh, 2015, BMC Medical Genomics.

Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy.

C. V. van Ravenswaaij-Arts, P. Rump, E. Brilstra, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Mutations in two regions of FLNB result in atelosteogenesis I and III

S. Robertson, D. Rimoin, J. Roume, 2006, Human mutation.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

S. Robertson, T. de Ravel, H. Firth, 2006, Journal of Medical Genetics.

Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations

E. Salido, R. Reinhardt, A. Ekici, 2018, Scientific Reports.

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

R. Pfundt, R. Roepman, V. Haucke, 2018, bioRxiv.

Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.

Michael D. Wilson, H. Fuchs, J. Dowling, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Etiological diagnosis in limb reduction defects and the number of affected limbs: A population‐based study in the Northern Netherlands

C. K. van der Sluis, P. Rump, Katharina Löhner, 2020, American journal of medical genetics. Part A.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review

J. Schuurs-Hoeijmakers, R. Pfundt, B. D. de Vries, 2018, Clinical genetics.

Variants in CUL4B are Associated with Cerebral Malformations

A. V. Vulto-van Silfhout, L. Vissers, S. Haas, 2015, Human mutation.

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, Genetics in Medicine.

Rapid Targeted Genomics in Critically Ill Newborns

Birgit Sikkema-Raddatz, Pieter B. T. Neerincx, Morris A Swertz, 2017, Pediatrics.

Mutations in RARS cause hypomyelination

P. Pouwels, Q. Waisfisz, R. Rodenburg, 2014, Annals of neurology.

N. de Leeuw, C. V. van Ravenswaaij-Arts, C. Ruivenkamp, 2019, European journal of medical genetics.

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly

C. Stratakis, D. Hadley, M. Muenke, 2014, Journal of Medical Genetics.

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

K. Kawakami, S. Lalani, Z. Sedlacek, 2021, Genetics in Medicine.

Relation between arachidonic acid and docosahexaenoic acid in maternal and neonatal blood

P. Rump, G. Hornstra, 2001, European Journal of Clinical Nutrition.

Determinants of overweight in a cohort of Dutch children.

E. Mariman, M. Westerterp-Plantenga, P. Rump, 2006, The American journal of clinical nutrition.

Male patients affected by mosaic PCDH19 mutations: five new cases

P. Rump, D. Lindhout, M. Kriek, 2017, neurogenetics.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Jeremy F. P. Ullmann, Sebastian A. Leidel, E. Roeder, 2017, Nature Genetics.

Prenatal arachidonic acid exposure and selected immune-related variables in childhood

P. Rump, J. Hendriks, J. Hogervorst, 2009, British Journal of Nutrition.

DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.

R. Pfundt, S. Skinner, R. Louie, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

University of Groningen Single molecule real time sequencing in ADTKD-MUC 1 allows complete assembly of the VNTR and exact positioning of causative mutations

E. Salido, R. Reinhardt, A. Ekici, 2018 .

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

P. Rump, E. Blair, L. Faivre, 2012, European Journal of Human Genetics.

Loss of ADAM17 is associated with severe multiorgan dysfunction.

S. Nelson, A. Karrenbeld, P. Rump, 2015, Human pathology.

Correction: Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

D. Grozeva, H. Bergman, D. Arkadir, 2017, Nature Genetics.

Association between polyunsaturated fatty acid concentrations in maternal plasma phospholipids during pregnancy and offspring adiposity at age 7: the MEFAB cohort.

D. Rizopoulos, M. Zeegers, R. Godschalk, 2014, Prostaglandins, leukotrienes, and essential fatty acids.

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.

H. Mefford, E. Zackai, D. Zeevi, 2020, American journal of human genetics.

Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.

B. van der Zwaag, P. Rump, S. Kmoch, 2022, Kidney international.

The genetic basis of DOORS syndrome: an exome-sequencing study

Jonathan E. Dickerson, J. Wiszniewska, S. Cheung, 2013 .

Unravelling the genetic basis of hereditary disorders by high-throughput exome sequencing strategies

Birgit, M. Swertz, R. Sinke, 2016 .

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

D. Grozeva, H. Bergman, D. Arkadir, 2016, Nature Genetics.

Supplementary webappendix

Jonathan E. Dickerson, K. Kyriacou, R. Hennekam, 2010 .

Supplementary Webappendix

Jonathan E. Dickerson, L. Holmberg, R. Hennekam, 2022 .

Mutations in RARS cause hypomyelination

P. Pouwels, Q. Waisfisz, R. Rodenburg, 2014, Annals of neurology.

Supplementary webappendix

Jonathan E. Dickerson, K. Kyriacou, R. Hennekam, 2013 .

Supplementary webappendix

Jonathan E. Dickerson, V. Beral, R. Hennekam, 2018 .

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in drosophila.

J. Lupski, H. Bellen, J. Fock, 2022, Human molecular genetics.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

S. Robertson, H. Firth, D. Rimoin, 2006, Journal of Medical Genetics.

Interaction between a common variant of the cholesteryl ester transfer protein gene and the apolipoprotein E polymorphism: effects on plasma lipids and lipoproteins in a cohort of 7-year-old children.

P. Rump, R. Mensink, G. Hornstra, 2002, Nutrition, metabolism, and cardiovascular diseases : NMCD.

Response to Fukuzawa et al. correspondence “Correct Usage of Loss Imprinting”

P. Rump, A. V. van Essen, M. Zeegers, 2005 .

Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy.

C. V. van Ravenswaaij-Arts, P. Rump, O. Brouwer, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

N. de Leeuw, C. V. van Ravenswaaij-Arts, C. Ruivenkamp, 2019, European journal of medical genetics.

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia (vol 49, pg 223, 2017)

D. Grozeva, H. Bergman, D. Arkadir, 2017 .