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P. Rump · SciRah

Researcher profile · Semantic Scholar

P. Rump

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P. Rump — researcher profile on SciRah

h-index: 37
Works: 88
Citations: 4,451

Most-cited papers

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
S. Lelieveld, M. Reijnders, R. Pfundt, H. Yntema +18 more
2016Nature Neuroscience434 citations Open access
Semantic Scholar
The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies
C. Redin, H. Brand, Ryan L. Collins, T. Kammin +145 more
2016Nature Genetics290 citations Open access
Semantic Scholar
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility
D. Astuti, M. Morris, W. Cooper, R. Staals +17 more
2012Nature Genetics247 citations
Semantic Scholar
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
E. Meyer, K. Carss, J. Rankin, John M. E. Nichols +66 more
2016Nature Genetics219 citations Open access
Semantic Scholar
GRIN2A-related disorders: genotype and functional consequence predict phenotype
V. Strehlow, H. Heyne, D. R. Vlaskamp, K. Marwick +65 more
2018Brain : a journal of neurology212 citations Open access
Semantic Scholar
Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly
Daniela A. Braun, Jia Rao, G. Mollet, D. Schapiro +98 more
2017Nature Genetics191 citations Open access
Semantic Scholar
The genetic basis of DOORS syndrome: an exome-sequencing study
Philippe M. Campeau, D. Kasperavičiūtė, James T. Lu, Lindsay C. Burrage +37 more
2014Lancet Neurology191 citations Open access
Semantic Scholar
Tumor risk in Beckwith–Wiedemann syndrome: A review and meta‐analysis
P. Rump, M. Zeegers, A. V. van Essen
2005American Journal of Medical Genetics. Part A166 citations
Semantic Scholar
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB
L. Bicknell, C. Farrington‐Rock, Y. Shafeghati, P. Rump +22 more
2006Journal of Medical Genetics132 citations Open access
Semantic Scholar
Rapid Targeted Genomics in Critically Ill Newborns
C. V. van Diemen, W. Kerstjens-Frederikse, K. A. Bergman, T. D. de Koning +14 more
2017Pediatrics126 citations Open access
Semantic Scholar
Essential fatty acid composition of plasma phospholipids and birth weight: a study in term neonates.
P. Rump, R. Mensink, A. Kester, G. Hornstra
2001American Journal of Clinical Nutrition110 citations Open access
Semantic Scholar
Mutations in RARS cause hypomyelination
N. I. Wolf, G. Salomons, R. Rodenburg, P. Pouwels +7 more
2014Annals of Neurology105 citations
Semantic Scholar
Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism
E. V. van Daalen, C. Kemner, N. Verbeek, B. van der Zwaag +13 more
2011Neurogenetics99 citations Open access
Semantic Scholar
Determinants of overweight in a cohort of Dutch children.
N. Vogels, D.L.A. Posthumus, E. Mariman, Freek G. Bouwman +4 more
2006American Journal of Clinical Nutrition92 citations Open access
Semantic Scholar
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity
J. S. Witteveen, M. Willemsen, T. C. D. Dombroski, N. van Bakel +25 more
2016Nature Genetics89 citations Open access
Semantic Scholar
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly
P. Rump, O. Jazayeri, K. V. van Dijk-Bos, L. Johansson +10 more
2015BMC Medical Genomics85 citations Open access
Semantic Scholar
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
P. Stankiewicz, Tahir N. Khan, P. Szafranski, L. Slattery +34 more
2017American Journal of Human Genetics83 citations Open access
Semantic Scholar
Germline AGO2 mutations impair RNA interference and human neurological development
D. Lessel, D. Zeitler, Margot R. F. Reijnders, Andriy Kazantsev +63 more
2020Nature Communications77 citations Open access
Semantic Scholar
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia
A. H. van der Hout, G. Oudesluijs, A. Venema, J. Verheij +5 more
2008European Journal of Human Genetics77 citations
Semantic Scholar
Mutations in two regions of FLNB result in atelosteogenesis I and III
C. Farrington‐Rock, Marc H. Firestein, L. Bicknell, A. Superti-Furga +13 more
2006Human Mutation67 citations
Semantic Scholar
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly
K. Bear, B. Solomon, S. Antonini, I. J. Arnhold +14 more
2014Journal of Medical Genetics64 citations Open access
Semantic Scholar
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Heather E. Olson, Nolwenn Jean-Marçais, E. Yang, D. Heron +52 more
2018American Journal of Human Genetics63 citations Open access
Semantic Scholar
Central 22q11.2 deletions
P. Rump, N. de Leeuw, A. V. van Essen, C. Verschuuren-Bemelmans +13 more
2014American Journal of Medical Genetics. Part A63 citations Open access
Semantic Scholar
Association between polyunsaturated fatty acid concentrations in maternal plasma phospholipids during pregnancy and offspring adiposity at age 7: the MEFAB cohort.
P. D. de Vries, M. Gielen, D. Rizopoulos, P. Rump +3 more
2014Prostaglandins, Leukotrienes and Essential Fatty Acids58 citations
Semantic Scholar
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Chris Balak, Marianne Bénard, E. Schaefer, S. Iqbal +34 more
2019American Journal of Human Genetics56 citations Open access
Semantic Scholar
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
D. Tiosano, H. Baris, An-Lu Chen, M. Hitzert +22 more
2018bioRxiv51 citations Open access
Semantic Scholar
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations
A. Wenzel, J. Altmueller, A. Ekici, B. Popp +14 more
2018Scientific Reports48 citations Open access
Semantic Scholar
Variants in CUL4B are Associated with Cerebral Malformations
A. T. Vulto-van Silfhout, T. Nakagawa, N. Bahi-buisson, S. Haas +41 more
2015Human Mutation48 citations Open access
Semantic Scholar
Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.
C. Boogerd, D. Dooijes, A. Ilgun, I. B. Mathijssen +7 more
2010Cardiovascular Research48 citations Open access
Semantic Scholar
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
Daniel Greene, K. De Wispelaere, Jon Lees, M. Codina-Solà +48 more
2025Nature Genetics47 citations Open access
Semantic Scholar
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
P. Rump, C. Popp-Snijders, Robert J. Heine, G. Hornstra
2001Diabetologia47 citations Open access
Semantic Scholar
Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy.
D. R. Vlaskamp, P. Rump, P. Callenbach, Y. Vos +3 more
2016European journal of paediatric neurology45 citations
Semantic Scholar
Body Composition and Cardiorespiratory Fitness Indicators in Prepubescent Boys and Girls
P. Rump, F. Verstappen, W. Gerver, G. Hornstra
2002International Journal of Sports Medicine44 citations Open access
Semantic Scholar
Male patients affected by mosaic PCDH19 mutations: five new cases
I. D. de Lange, P. Rump, R. Neuteboom, P. Augustijn +14 more
2017Neurogenetics42 citations Open access
Semantic Scholar
Loss of ADAM17 is associated with severe multiorgan dysfunction
Robert H. J. Bandsma, H. van Goor, Michael Yourshaw, Rudolf K. Horlings +11 more
2015Human Pathology40 citations Open access
Semantic Scholar
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis
S. El Chehadeh-Djebbar, E. Blair, M. Holder-Espinasse, A. Moncla +12 more
2012European Journal of Human Genetics39 citations Open access
Semantic Scholar
A novel mutation in MED12 causes FG syndrome (Opitz–Kaveggia syndrome)
P. Rump, R. Niessen, K. T. Verbruggen, O. F. Brouwer +2 more
2011Clinical Genetics37 citations
Semantic Scholar
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
A. Zawerton, C. Mignot, Ashley N. Sigafoos, P. Blackburn +81 more
2019Genetics in Medicine36 citations Open access
Semantic Scholar
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, T. Dijkhuizen, B. Sikkema-Raddatz, H. Lemmink +3 more
2008Clinical Genetics32 citations
Semantic Scholar
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
2002Clinical Chemistry and Laboratory Medicine32 citations Open access
Semantic Scholar
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics
Laura V. Vandervore, R. Schot, E. Kasteleijn, R. Oegema +28 more
2019Brain : a journal of neurology31 citations Open access
Semantic Scholar
PRRT2-related phenotypes in patients with a 16p11.2 deletion.
D. R. Vlaskamp, P. Callenbach, P. Rump, L. A. Giannini +11 more
2019European Journal of Medical Genetics30 citations Open access
Semantic Scholar
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.
Alison M. Muir, Jennifer L. Cohen, S. Sheppard, Pavithran Guttipatti +15 more
2020American Journal of Human Genetics28 citations Open access
Semantic Scholar
Insulin resistance, physical fitness, body composition and leptin concentration in 7-8 year-old children.
J. Slinger, E. van Breda, H. Keizer, P. Rump +2 more
2008Journal of Science and Medicine in Sport26 citations
Semantic Scholar
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review
W. M. van den Akker, I. Brummelman, L. Martis, R. Timmermans +20 more
2018Clinical Genetics24 citations Open access
Semantic Scholar
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
Fuad Chowdhury, Lei Wang, M. Al-Raqad, D. Amor +40 more
2021Genetics in Medicine21 citations Open access
Semantic Scholar
Etiological diagnosis in limb reduction defects and the number of affected limbs: A population‐based study in the Northern Netherlands
J. Bergman, Katharina Löhner, C. K. van der Sluis, P. Rump +1 more
2020American Journal of Medical Genetics. Part A21 citations Open access
Semantic Scholar
Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele
P. Rump, T. Letteboer, J. Gille, M. J. L. Torringa +4 more
2006American Journal of Medical Genetics. Part A19 citations
Semantic Scholar
Meta-analysis of 2,104 trios provides support for 10 novel candidate genes for intellectual disability
S. Lelieveld, M. Reijnders, R. Pfundt, H. Yntema +18 more
2016bioRxiv18 citations Open access
Semantic Scholar
A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect
P. Rump, H. Lemmink, C. Verschuuren-Bemelmans, P. Grootscholten +5 more
2005Neurogenetics17 citations Open access
Semantic Scholar

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