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E. Stolerman · SciRah

Researcher profile · Semantic Scholar

E. Stolerman

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E. Stolerman — researcher profile on SciRah

h-index: 10
Works: 23
Citations: 352

Most-cited papers

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features
E. Stolerman, Elizabeth Francisco, Jennifer L. Stallworth, Julie R. Jones +27 more
2019American Journal of Medical Genetics. Part A52 citations Open access
Semantic Scholar
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
C. Mak, D. Doherty, A. Lin, N. Vegas +78 more
2019Brain : a journal of neurology47 citations Open access
Semantic Scholar
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Sukhleen Kour, D. Rajan, Tyler R. Fortuna, Eric N. Anderson +66 more
2021Nature Communications46 citations Open access
Semantic Scholar
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Scott Barish, T. S. Barakat, B. Michel, N. Mashtalir +49 more
2020American Journal of Human Genetics43 citations Open access
Semantic Scholar
CHD8 intragenic deletion associated with autism spectrum disorder.
E. Stolerman, Brooke T. Smith, A. Chaubey, Julie R. Jones
2016European Journal of Medical Genetics32 citations
Semantic Scholar
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
D. Rots, Taryn E. Jakub, Crystal Keung, A. Jackson +113 more
2023American Journal of Human Genetics28 citations Open access
Semantic Scholar
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
Audrey Schalk, M. Cousin, Nikita R. Dsouza, T. Challman +68 more
2020Journal of Medical Genetics27 citations Open access
Semantic Scholar
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
James L. Shepherdson, K. Hutchison, Dilan Wellalage Don, George McGillivray +52 more
2024American Journal of Human Genetics19 citations Open access
Semantic Scholar
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
S. Hiatt, S. Trajkova, M. R. Sebastiano, E. C. Partridge +80 more
2022American Journal of Human Genetics17 citations Open access
Semantic Scholar
Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics
Christopher C. Y. Mak, H. Klinkhammer, S. Choufani, Nikola Reko +37 more
2025EBioMedicine10 citations Open access
Semantic Scholar
Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay
Xiao-Lan Fang, Timothy Fee, Jessica M. Davis, E. Stolerman +1 more
2023Cold Spring Harbor molecular case studies7 citations Open access
Semantic Scholar
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Yoeri Sleyp, I. Valenzuela, A. Accogli, K. Ballon +40 more
2022Genetics in Medicine7 citations Open access
Semantic Scholar
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Reza Asadollahi, A. Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen +146 more
2025Nature Genetics6 citations Open access
Semantic Scholar
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1
Alison M. R. Castle, S. Salian, H. Bassan, E. Sofrin-Drucker +18 more
2021Neurology: Genetics6 citations Open access
Semantic Scholar
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features
J. Tenorio-Castaño, P. Arias, A. Fernández-Jaén, G. Lay-Son +20 more
2021Clinical Genetics3 citations
Semantic Scholar
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
D. Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson +113 more
2025American Journal of Human Genetics1 citations
Semantic Scholar
Expansion of genotype/phenotype correlation in an individual with compound heterozygous variants in CYP51A1 and congenital cataract.
Maxwell B Colonna, Andrzej B. Poplawski, Marie Brzoska, D. Le +8 more
2025Molecular Genetics and Metabolism1 citations
Semantic Scholar
Clinical spectrum, molecular and functional analysis of variants in MACF1
Jordy Dekker, R. Schot, K. Aldinger, D. Everman +86 more
2025American Journal of Human Genetics1 citations Open access
Semantic Scholar
RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy
Camerun C. Washington, E. Stolerman, Jessica Cooley-Coleman, Julie R. Jones +1 more
2023Clinical Case Reports1 citations Open access
Semantic Scholar
Domain-specific mechanisms of YAP1 variants in ocular coloboma revealed by in-vitro and organoid studies
Srishti Silvano, Van Annika Rick-Lenze, James S. Bagnall, M. Saravanakumar +16 more
2025bioRxiv0 citations Open access
Semantic Scholar
1q21.1 deletion size and associated clinical presentations
Jiyong Wang, R. Hamid, M. Lyons, N. Champaigne +8 more
20210 citations
Semantic Scholar
De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features
C. Gordon, K. Leung, C. Mak, D. Doherty +33 more
20190 citations
Semantic Scholar
Nevoid Basal Cell Carcinoma Syndrome with Nystagmus and Immobile First Digit Interphalangeal Joints : Expanding the Phenotype of PTCH 1 Duplications
A. Hurst, Crescenda L. Williams, K. Nelson, E. Stolerman +1 more
20160 citations
Semantic Scholar

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