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E. Bijlsma · SciRah

Researcher profile · Semantic Scholar

E. Bijlsma

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E. Bijlsma — researcher profile on SciRah

h-index: 46
Works: 168
Citations: 7,415

Most-cited papers

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.
Galen E. B. Wright, J. Collins, C. Kay, Cassandra L. McDonald +15 more
2019American Journal of Human Genetics179 citations Open access
Semantic Scholar
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
P. J. van der Sluijs, S. Jansen, S. Vergano, Miho Adachi-Fukuda +101 more
2018Genetics in Medicine125 citations Open access
Semantic Scholar
Delineating the GRIN1 phenotypic spectrum
J. Lemke, Kirsten Geider, K. Helbig, H. Heyne +54 more
2016Neurology118 citations Open access
Semantic Scholar
The clinical significance of small copy number variants in neurodevelopmental disorders
Reza Asadollahi, B. Oneda, P. Joset, S. Azzarello-Burri +21 more
2014Journal of Medical Genetics96 citations Open access
Semantic Scholar
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
J. Meester, L. Southgate, Anna-Barbara Stittrich, H. Venselaar +20 more
2015American Journal of Human Genetics92 citations Open access
Semantic Scholar
De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes
M. Gil-Rodríguez, M. Deardorff, Morad Ansari, Christopher A. Tan +58 more
2015Human Mutation85 citations Open access
Semantic Scholar
Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement
M. Zollino, C. Zweier, I. V. van Balkom, D. Sweetser +28 more
2019Clinical Genetics83 citations Open access
Semantic Scholar
CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease
A. Semaka, C. Kay, C. Doty, J. Collins +4 more
2013Journal of Medical Genetics81 citations
Semantic Scholar
Further delineation of Malan syndrome
M. Priolo, D. Schanze, K. Tatton-Brown, P. Mulder +50 more
2018Human Mutation69 citations Open access
Semantic Scholar
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
Lot Snijders Blok, S. Hiatt, Kevin M. Bowling, J. Prokop +27 more
2018Human Genetics68 citations Open access
Semantic Scholar
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system
C. D. de Winter, M. Baas, E. Bijlsma, John van Heukelingen +2 more
2016Orphanet Journal of Rare Diseases66 citations Open access
Semantic Scholar
Further Delineation of the KAT6B Molecular and Phenotypic Spectrum
Tamsin Gannon, R. Perveen, H. Schlecht, S. Ramsden +55 more
2014European Journal of Human Genetics64 citations Open access
Semantic Scholar
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Hui Guo, E. Bettella, Paul C. Marcogliese, Rongjuan Zhao +64 more
2019Nature Communications63 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
Diagnostic genetic testing for Huntington's disease
D. Craufurd, R. Macleod, M. Frontali, O. Quarrell +8 more
2014Practical Neurology60 citations Open access
Semantic Scholar
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome
O. Koutsopoulos, C. Kretz, C. Weller, Aurélien Roux +14 more
2012European Journal of Human Genetics60 citations Open access
Semantic Scholar
Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi‐Goutières Syndrome, a Type I Interferonopathy
K. Meesilpavikkai, W. Dik, B. Schrijver, C. V. van Helden-Meeuwsen +6 more
2019Arthritis & Rheumatology56 citations Open access
Semantic Scholar
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
E. Flex, S. Martinelli, A. van Dijck, A. Ciolfi +56 more
2019American Journal of Human Genetics55 citations Open access
Semantic Scholar
Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range
Hailey Findlay Black, Galen E. B. Wright, J. Collins, N. Caron +7 more
2020Genetics in Medicine51 citations Open access
Semantic Scholar
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature
A. Ciolfi, E. Aref-Eshghi, S. Pizzi, L. Pedace +15 more
2020Clinical Epigenetics48 citations Open access
Semantic Scholar
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila
D. Lugtenberg, M. Reijnders, Michaela Fenckova, E. Bijlsma +26 more
2016European Journal of Human Genetics47 citations Open access
Semantic Scholar
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders
E. Sollis, P. Deriziotis, H. Saitsu, N. Miyake +8 more
2017Human Mutation42 citations Open access
Semantic Scholar
Disease Onset in Huntington's Disease: When Is the Conversion?
M. Oosterloo, B. D. de Greef, E. Bijlsma, A. Durr +4 more
2021Movement Disorders Clinical Practice37 citations Open access
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
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
A. Vetro, Cristiana Pelorosso, S. Balestrini, A. Masi +117 more
2023American Journal of Human Genetics35 citations Open access
Semantic Scholar
Prenatal exome sequencing: A useful tool for the fetal neurologist
Maayke A. de Koning, M. Hoffer, Esther A. R. Nibbeling, E. Bijlsma +6 more
2021Clinical Genetics35 citations Open access
Semantic Scholar
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
F. Tessadori, K. Duran, K. Knapp, M. Fellner +61 more
2022American Journal of Human Genetics33 citations Open access
Semantic Scholar
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
M. Chopra, Meriel E. Mcentagart, J. Clayton-Smith, K. Platzer +78 more
2021American Journal of Human Genetics33 citations Open access
Semantic Scholar
Recurrent KIF2A mutations are responsible for classic lissencephaly
M. Cavallin, E. Bijlsma, Adrienne El Morjani, S. Moutton +11 more
2017Neurogenetics29 citations
Semantic Scholar
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context
M. van Slobbe, A. van Haeringen, L. Vissers, E. Bijlsma +5 more
2023European Journal of Pediatrics28 citations Open access
Semantic Scholar
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
E. Palmer, M. Pusch, A. Picollo, C. Forwood +95 more
2022Molecular Psychiatry28 citations Open access
Semantic Scholar
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
M. J. Nabais Sá, H. Venselaar, Laurens Wiel, A. Trimouille +26 more
2019Genetics in Medicine28 citations Open access
Semantic Scholar
Clinical and genetic characteristics of late-onset Huntington's disease.
M. Oosterloo, E. Bijlsma, S. V. van Kuijk, Floor N. E. Minkels +1 more
2019Parkinsonism & Related Disorders27 citations
Semantic Scholar
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
K. Kloth, B. Lozić, Julia Tagoe, M. Hoffer +8 more
2021Neurogenetics26 citations Open access
Semantic Scholar
Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma
J. M. E. van den Oever, E. Bijlsma, I. Feenstra, N. Muntjewerff +4 more
2015Prenatal Diagnosis26 citations Open access
Semantic Scholar
Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus
G. Santen, Yu Sun, A. Gijsbers, A. Carré +9 more
2012Journal of Medical Genetics26 citations Open access
Semantic Scholar
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
D. Rots, Arianne Bouman, Ayumi Yamada, M. Levy +88 more
2024American Journal of Human Genetics25 citations Open access
Semantic Scholar
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
B. Yaldiz, Erdi Kucuk, J. Hampstead, T. Hofste +296 more
2023Human Genomics24 citations Open access
Semantic Scholar
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals
A. Kampmeier, E. Leitão, I. Parenti, J. Beygo +33 more
2023Frontiers in Cell and Developmental Biology20 citations Open access
Semantic Scholar
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies
J. Schröter, B. Popp, H. Brennenstuhl, J. Döring +17 more
2021European Journal of Human Genetics19 citations Open access
Semantic Scholar
Putting genome-wide sequencing in neonates into perspective
P. J. van der Sluijs, E. Aten, D. Barge-Schaapveld, E. Bijlsma +28 more
2018Genetics in Medicine18 citations Open access
Semantic Scholar
A new mutation for Huntington disease following maternal transmission of an intermediate allele.
A. Semaka, C. Kay, R. Belfroid, E. Bijlsma +6 more
2015European Journal of Medical Genetics18 citations
Semantic Scholar
AHDC1 missense mutations in Xia-Gibbs syndrome
M. Khayat, Jian-Hong Hu, Yunyun Jiang, He Li +19 more
2021HGG advances15 citations Open access
Semantic Scholar
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease
F. Boulogne, L. Claus, H. Wiersma, R. Oelen +17 more
2021European Journal of Human Genetics14 citations Open access
Semantic Scholar
Diagnosing Juvenile Huntington’s Disease: An Explorative Study among Caregivers of Affected Children
M. Oosterloo, E. Bijlsma, C. D. de Die-Smulders, R. Roos
2020Brain Science14 citations Open access
Semantic Scholar
Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder
G. Beaman, F. M. Lopes, A. Hofmann, Wolfgang H. Roesch +18 more
2022Frontiers in Genetics13 citations Open access
Semantic Scholar
Is There Convincing Evidence that Intermediate Repeats in the HTT Gene Cause Huntington’s Disease?
M. Oosterloo, M. V. van Belzen, E. Bijlsma, R. Roos
2015Journal of Huntington's Disease13 citations
Semantic Scholar
The Frequency and Clinical Impact of Synonymous HTT Loss-of-Interruption and Duplication-of-interruption Variants in a Diverse HD Cohort.
Jessica Dawson, C. Kay, Hailey Findlay Black, Stephanie Bortnick +13 more
2024Genetics in Medicine11 citations Open access
Semantic Scholar
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
Elisa Calì, M. Suri, M. Scala, Matteo P. Ferla +63 more
2022Genetics in Medicine11 citations Open access
Semantic Scholar
Expansion and mechanistic insights of de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
S. McGee, Shivakumar Rajamanickam, Sandeep Adhikari, Oluwatosin C. Falayi +20 more
2022Human Molecular Genetics10 citations Open access
Semantic Scholar

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