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M. Alders · SciRah

Researcher profile · Semantic Scholar

M. Alders

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M. Alders — researcher profile on SciRah

h-index: 55
Works: 209
Citations: 10K

Most-cited papers

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
E. Aref-Eshghi, J. Kerkhof, V. Pedro, Groupe di France +65 more
2021American Journal of Human Genetics172 citations Open access
Semantic Scholar
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
S. Martinelli, Oliver H. F. Krumbach, F. Pantaleoni, Simona Coppola +44 more
2018American Journal of Human Genetics170 citations Open access
Semantic Scholar
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
B. Sadikovic, M. Levy, J. Kerkhof, E. Aref-Eshghi +22 more
2021Genetics in Medicine169 citations Open access
Semantic Scholar
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
E. Aref-Eshghi, J. Kerkhof, V. Pedro, M. Barat-Houari +64 more
2020American Journal of Human Genetics155 citations Open access
Semantic Scholar
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
M. Levy, H. McConkey, J. Kerkhof, M. Barat-Houari +83 more
2021HGG advances152 citations Open access
Semantic Scholar
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
F. Vaz, J. McDermott, M. Alders, S. Wortmann +20 more
2019Brain : a journal of neurology92 citations Open access
Semantic Scholar
Guidelines for diagnostic next-generation sequencing
G. Matthijs, E. Souche, M. Alders, A. Corveleyn +10 more
2016European Journal of Human Genetics82 citations Open access
Semantic Scholar
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome
I. Chatzispyrou, M. Alders, Sergio Guerrero‐Castillo, R. Zapata-Pérez +11 more
2017bioRxiv74 citations Open access
Semantic Scholar
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
J. Kerkhof, Cassandra Rastin, M. Levy, R. Relator +31 more
2024Genetics in Medicine73 citations Open access
Semantic Scholar
Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.
L. Kleinendorst, O. Abawi, H. J. van der Kamp, M. Alders +4 more
2020European Journal of Endocrinology72 citations Open access
Semantic Scholar
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance
F. V. van Lint, O. Mook, M. Alders, H. Bikker +2 more
2019Netherlands Heart Journal65 citations Open access
Semantic Scholar
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype
L. Menke, M. V. van Belzen, M. Alders, F. Cristofoli +19 more
2016American Journal of Medical Genetics. Part A64 citations Open access
Semantic Scholar
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
M. Oud, P. Tuijnenburg, M. Hempel, Naomi van Vlies +34 more
2017American Journal of Human Genetics61 citations Open access
Semantic Scholar
How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
S. Wortmann, M. Oud, M. Alders, K. Coene +17 more
2022Journal of Inherited Metabolic Disease60 citations Open access
Semantic Scholar
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
M. Levy, R. Relator, H. McConkey, Erinija Pranckevičienė +88 more
2022Human Mutation60 citations Open access
Semantic Scholar
Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor
Rinse W. Barendsen, Inge M. E. Dijkstra, W. Visser, M. Alders +21 more
2020Frontiers in Cell and Developmental Biology60 citations Open access
Semantic Scholar
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.
F. Mattioli, E. Schaefer, A. Magee, P. Mark +13 more
2017American Journal of Human Genetics58 citations Open access
Semantic Scholar
A de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertension.
B. Koot, M. Alders, J. Verheij, U. Beuers +1 more
2016Journal of Hepatology58 citations Open access
Semantic Scholar
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
I. Schanze, J. Bunt, Jonathan W. C. Lim, D. Schanze +45 more
2018American Journal of Human Genetics57 citations Open access
Semantic Scholar
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center
L. Kleinendorst, O. Abawi, B. van der Voorn, M. Jongejan +8 more
2020PLoS ONE55 citations Open access
Semantic Scholar
An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality
C. Ferrer, M. Alders, A. Postma, Seonmi Park +14 more
2018Genes & Development55 citations Open access
Semantic Scholar
Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients
N. Zwaveling-Soonawala, M. Alders, A. Jongejan, Lidija Kovačič +5 more
2018Journal of Clinical Endocrinology and Metabolism53 citations Open access
Semantic Scholar
Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder
L. Menke, M. Engelen, M. Alders, V. J. Odekerken +2 more
2016Journal of Child Neurology49 citations Open access
Semantic Scholar
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
Xiang-Bin Jia, Shujie Zhang, Sen-Wei Tan, Bing Du +49 more
2022Science Advances47 citations Open access
Semantic Scholar
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Theodore G. Drivas, Dong Li, Divya R. Nair, J. Alaimo +61 more
2020European Journal of Human Genetics47 citations Open access
Semantic Scholar
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.
A. Stray-Pedersen, J. Cobben, T. Prescott, Sora Lee +16 more
2016American Journal of Human Genetics46 citations Open access
Semantic Scholar
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis
T. van Dijk, S. Ferdinandusse, Jos P. N. Ruiter, M. Alders +9 more
2018European Journal of Human Genetics45 citations Open access
Semantic Scholar
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome
S. Paolacci, Yun Li, E. Agolini, E. Bellacchio +24 more
2018Journal of Medical Genetics45 citations Open access
Semantic Scholar
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
M. Reijnders, K. A. Miller, M. Alvi, J. Goos +65 more
2018American Journal of Human Genetics45 citations Open access
Semantic Scholar
Genetic Analyses in Small-for-Gestational-Age Newborns
S. E. Stalman, Nita Solanky, M. Ishida, Cristina Alemán-Charlet +22 more
2018Journal of Clinical Endocrinology and Metabolism42 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
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus
Federica Maria Valente, A. Sparago, A. Freschi, K. Hill-Harfe +16 more
2019Genetics in Medicine41 citations Open access
Semantic Scholar
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
E. Bonora, Sanjiban Chakrabarty, Georgios Kellaris, M. Tsutsumi +63 more
2021Brain : a journal of neurology40 citations Open access
Semantic Scholar
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
D. Connaughton, R. Dai, D. Owen, Jonathan Marquez +95 more
2020American Journal of Human Genetics39 citations Open access
Semantic Scholar
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
M. Weerts, Kristina Lanko, Francisco J. Guzmán-Vega, A. Jackson +93 more
2021Genetics in Medicine33 citations Open access
Semantic Scholar
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
R. Al-Jawahiri, A. Foroutan, J. Kerkhof, H. McConkey +50 more
2022Genetics in Medicine32 citations Open access
Semantic Scholar
Sex‐specific newborn screening for X‐linked adrenoleukodystrophy
M. Albersen, S. L. van der Beek, Inge M. E. Dijkstra, M. Alders +17 more
2022Journal of Inherited Metabolic Disease32 citations Open access
Semantic Scholar
Mutations in IRS4 are associated with central hypothyroidism
C. Heinen, E. M. de Vries, M. Alders, H. Bikker +9 more
2018Journal of Medical Genetics32 citations Open access
Semantic Scholar
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
R. V. van Jaarsveld, Jack Reilly, M. Cornips, M. A. Hadders +55 more
2022Genetics in Medicine30 citations Open access
Semantic Scholar
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
M. Levy, D. Beck, K. Metcalfe, S. Douzgou +30 more
2021npj Genomic Medicine27 citations Open access
Semantic Scholar
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes
Ivan Ivanovski, S. Akbaroghli, M. Pollazzon, C. Gelmini +9 more
2018American Journal of Medical Genetics. Part A27 citations Open access
Semantic Scholar
Mutations in TBL1X Are Associated With Central Hypothyroidism
C. Heinen, M. Losekoot, Yu Sun, P. Watson +17 more
2016Journal of Clinical Endocrinology and Metabolism27 citations Open access
Semantic Scholar
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
A. R. Duncan, A. Vitobello, Stephan C. Collins, Valerie E. Vancollie +26 more
2020American Journal of Human Genetics22 citations Open access
Semantic Scholar
Variants in KAT6A and pituitary anomalies
N. Zwaveling-Soonawala, Saskia M. Maas, M. Alders, C. Majoie +3 more
2017American Journal of Medical Genetics. Part A19 citations Open access
Semantic Scholar
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
S. Haghshenas, Hidde J. Bout, Josephine M. Schijns, M. Levy +28 more
2024HGG advances18 citations Open access
Semantic Scholar
Oral‐facial‐digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum
A. Bouman, M. Alders, R. Oostra, E. van Leeuwen +3 more
2017American Journal of Medical Genetics. Part A18 citations Open access
Semantic Scholar
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder
P. Blackburn, F. Ebstein, Tzung-Chien Hsieh, M. Motta +75 more
2024Annals of Neurology17 citations Open access
Semantic Scholar
Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene.
T. Jenewein, B. Beckmann, S. Rose, H. Osterhues +9 more
2017Forensic Science International17 citations
Semantic Scholar
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.
Kathleen Rooney, Liselot van der Laan, S. Trajkova, S. Haghshenas +22 more
2023Genetics in Medicine16 citations Open access
Semantic Scholar
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
A. Foroutan, S. Haghshenas, P. Bhai, M. Levy +27 more
2022International Journal of Molecular Sciences16 citations Open access
Semantic Scholar

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