Author

María J. Guillen Sacoto

Observed names: Guillen Sacoto, Maria J., M.J. Guillen Sacoto, MJ Guillen Sacoto, Maria Guillen Sacoto, Maria J Guillen Sacoto, Maria J. Guillen Sacoto, Maria J. Guillen-Sacoto, Maria J.Guillen Sacoto, Maria. J. Guillen Sacoto, Maria J. Guillen Sacoto, Sacoto, M. J. Guillen, Sacoto, Maria Guillen, Sacoto, Maria J. Guillen

Institutions: Radboud University Medical Center, OPKO Health (United States)

Observed institutions: National Institutes of Health, Ochsner Health System, Baylor College of Medicine, Sheba Medical Center, Newcastle upon Tyne Hospitals NHS Foundation Trust, Radboud University Medical Center, National Human Genome Research Institute, OPKO Health (United States), Leipzig University

ORCID: 0000-0003-3772-8815

Observed ORCID: 0000-0003-3772-8815

OpenAlex ID: A5076118382

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

2018 · Davor Lessel, Christina Gehbauer, et al. · Brain · 125

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

2020 · Maria J. Guillen Sacoto, Iva A. Tchasovnikarova, et al. · The American Journal of Human Genetics · 108

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

2016 · Kezhi Yan, Justine Rousseau, et al. · The American Journal of Human Genetics · 96

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

2018 · Claire Guissart, Xenia Latypova, et al. · The American Journal of Human Genetics · 79

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

2016 · Elizabeth J. Bhoj, Dong Li, et al. · The American Journal of Human Genetics · 74

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

2019 · Deciphering Developmental Disorders (DDD) Study, Markus Zweier, et al. · European Journal of Human Genetics · 72

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

2019 · Bobby G. Ng, Paulina Sosicka, et al. · Human Mutation · 65

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

2017 · Genay O Pilarowski, Hilary J Vernon, et al. · Journal of Medical Genetics · 64

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

2020 · Andreea Manole, Stephanie Efthymiou, et al. · The American Journal of Human Genetics · 61

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

2021 · Geeske M. Woerden, Melanie Bos, et al. · Human Mutation · 55

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

2021 · Sukhleen Kour, Deepa S. Rajan, et al. · Nature Communications · 53

Muenke syndrome: An international multicenter natural history study

2016 · Paul Kruszka, Yonit A. Addissie, et al. · American Journal of Medical Genetics Part A · 53

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

2020 · Sacha Ferdinandusse, Kirsty McWalter, et al. · Genetics in Medicine · 52

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

2018 · Hugh J. McMillan, Aida Telegrafi, et al. · Orphanet Journal of Rare Diseases · 46

The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK

2019 · Solmi Cheon, Kiran Kaur, et al. · Proceedings of the National Academy of Sciences · 41

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

2017 · Z. Powis, K.D. Farwell Hagman, et al. · Clinical Genetics · 40

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases

2023 · Rebecca I. Torene, Maria J. Guillen Sacoto, et al. · The American Journal of Human Genetics · 39

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

2020 · Hui Guo, Qiumeng Zhang, et al. · The American Journal of Human Genetics · 39

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

2019 · Ash Zawerton, Cyril Mignot, et al. · Genetics in Medicine · 39

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

2019 · Sandra Jansen, Ilse M. van der Werf, et al. · European Journal of Human Genetics · 38

Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures

2022 · Shenzhao Lu, Rebecca Hernan, et al. · The American Journal of Human Genetics · 37

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

2021 · Elodie M. Richard, Somayeh Bakhtiari, et al. · The American Journal of Human Genetics · 36

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

2017 · Akemi J. Tanaka, Megan T. Cho, et al. · Molecular Case Studies · 36

Human germline hedgehog pathway mutations predispose to fatty liver

2017 · Maria J. Guillen-Sacoto, Ariel F. Martinez, et al. · Journal of Hepatology · 36

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

2019 · Hanyin Cheng, Simona Capponi, et al. · Human Mutation · 31

Works count: 98

Citation count: 2,038

H-index: 29

I10-index: 51