Wiedemann–Steiner Syndrome (WSS; KMT2A-related) — Disease Characteristics Research Report

Executive Summary

Wiedemann–Steiner syndrome (WSS; also written WDSTS) is an autosomal-dominant Mendelian neurodevelopmental disorder caused primarily by heterozygous pathogenic variants in KMT2A (also known historically as MLL), a histone H3 lysine 4 (H3K4) methyltransferase and core component of the epigenetic “writer” machinery. Clinically, WSS features global developmental delay/intellectual disability, postnatal growth deficiency/short stature, hypertrichosis (often including hypertrichosis cubiti), and characteristic craniofacial dysmorphism, with frequent gastrointestinal, skeletal, cardiac, genitourinary, endocrine, and immune comorbidities in cohort studies. The largest multi-continental cohort (n=104) provides robust phenotype frequencies and milestone distributions; recent (2023–2024) advances emphasize neurocognitive profiling, and clinical implementation of DNA methylation episignatures as functional biomarkers for variant interpretation.

Key quantitative points (largest cohort, n=104): developmental delay/intellectual disability 97%, hypotonia 72.4%, failure to thrive 67.7%, feeding difficulties 66.3%, constipation 63.8%, short stature 57.8%, hypertrichosis cubiti 57%, seizures ~20%, cardiac abnormalities ~35.8% among those evaluated; median milestone ages: first words 18 months, independent walking 20 months. (sheppard2021expandingthegenotypic pages 3-4, sheppard2021expandingthegenotypic pages 11-13, sheppard2021expandingthegenotypic pages 6-11)

1. Disease Information

1.1 Concise overview

WSS is a rare autosomal-dominant disorder of the epigenetic machinery (a “chromatinopathy/MDEM”) caused by heterozygous pathogenic variants in KMT2A, characterized by neurodevelopmental impairment (developmental delay/intellectual disability), hypertrichosis (often including hypertrichosis cubiti), facial dysmorphism, and growth deficiency with multi-system congenital anomalies. (ng2023individualswithwiedemannsteiner pages 1-2, foroutan2022clinicalutilityof pages 2-3)

Recent clinical neuropsychology evidence (2023) indicates a characteristic cognitive pattern with prominent nonverbal/visuospatial weaknesses and relative sparing of some verbal skills in a pediatric series, supporting syndrome-specific educational planning. (ng2023individualswithwiedemannsteiner pages 1-2)

1.2 Key identifiers

• MONDO: MONDO_0011518 (OpenTargets disease identifier) (OpenTargets Search: Wiedemann-Steiner syndrome-KMT2A)
• OMIM (phenotype): 605130 (explicitly cited in neuropsychology and chromatin clinic literature) (ng2023individualswithwiedemannsteiner pages 1-2, harris2024fiveyearsof pages 7-9)
• Causal gene: KMT2A (lysine methyltransferase 2A; H3K4 methyltransferase; 11q23 locus referenced across studies) (foroutan2022clinicalutilityof pages 2-3, lin2023novelvariantsand pages 2-3)

Not available in retrieved evidence (tool-limited): Orphanet ID, MeSH descriptor ID, ICD-10/ICD-11 mappings. These should be added from OMIM/Orphanet/ICD resources directly.

1.3 Synonyms / alternative names

• Wiedemann–Steiner syndrome (WSS)
• Wiedemann-Steiner syndrome (WDSTS)
• KMT2A-related syndrome (often used in epigenetic/episignature literature) (foroutan2022clinicalutilityof pages 2-3)

1.4 Evidence provenance

The report draws primarily from: - Aggregated cohort studies (e.g., Sheppard et al. multicenter cohort of 104 individuals) (sheppard2021expandingthegenotypic pages 3-4, sheppard2021expandingthegenotypic pages 11-13, sheppard2021expandingthegenotypic pages 6-11) - Disease-focused reviews/case series (e.g., Yu et al. 2022 review; Ng et al. 2023 neuropsychology case series) (yu2022wiedemann–steinersyndromecase pages 7-8, ng2023individualswithwiedemannsteiner pages 1-2) - Clinical diagnostic-method studies (e.g., DNA methylation episignature validation papers) (foroutan2022clinicalutilityof pages 2-3, husson2024episignaturesinpractice pages 1-2) - Real-world specialized clinic cohort (Johns Hopkins Epigenetics and Chromatin Clinic experience) (harris2024fiveyearsof pages 7-9, harris2024fiveyearsof pages 5-7)

2. Etiology

2.1 Disease causal factors

Primary cause: Germline heterozygous pathogenic variants in KMT2A leading predominantly to haploinsufficiency (loss-of-function via premature stop codons and/or nonsense-mediated decay is emphasized in reviews and cohort studies). (yu2022wiedemann–steinersyndromecase pages 1-2, sheppard2021expandingthegenotypic pages 4-6)

Direct abstract quote (diagnostic episignature paper): “Wiedemann–Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition… caused by pathogenic variants in the KMT2A gene.” (foroutan2022clinicalutilityof pages 2-3)

2.2 Risk factors

For a monogenic, typically de novo disorder, “risk factors” are primarily genetic and reproductive: - De novo occurrence is common. In the 104-person cohort, 55.8% were confirmed de novo (likely an underestimate due to incomplete parental testing). (sheppard2021expandingthegenotypic pages 6-11) - Familial transmission and mosaicism occur but are uncommon. Baer et al. reported autosomal-dominant transmission in three families and mosaicism in one family. (baer2018wiedemann‐steinersyndromeas pages 1-2)

Environmental risk factors are not established in the retrieved literature.

2.3 Protective factors / gene–environment interactions

No validated protective variants or gene–environment interactions specific to WSS were identified in the retrieved evidence.

3. Phenotypes

3.1 Core phenotype spectrum and frequencies

The largest available cohort data (n=104) provide the most stable frequency estimates: - Neurodevelopmental: developmental delay/intellectual disability 97%; hypotonia 72.4%; autism spectrum disorder 21.3%; seizures 20.0% (surveyed subset). (sheppard2021expandingthegenotypic pages 3-4, sheppard2021expandingthegenotypic pages 6-11) - Growth/nutrition: failure to thrive 67.7%; feeding difficulties 66.3%; tube feeds 25.5%. (sheppard2021expandingthegenotypic pages 3-4, sheppard2021expandingthegenotypic pages 11-13) - Gastrointestinal: constipation 63.8%. (sheppard2021expandingthegenotypic pages 3-4) - Growth: short stature 57.8%. (sheppard2021expandingthegenotypic pages 3-4) - Hair/skin: hypertrichosis cubiti 57%; additional hypertrichosis patterns summarized visually in cohort figures. (sheppard2021expandingthegenotypic pages 3-4, sheppard2021expandingthegenotypic media eacdfc98) - Skeletal: vertebral anomalies 46.9%; scoliosis 21.3%. (sheppard2021expandingthegenotypic pages 3-4, sheppard2021expandingthegenotypic pages 11-13) - Cardiac: cardiac abnormalities 35.8% among those evaluated. (sheppard2021expandingthegenotypic pages 6-11) - Genitourinary: GU anomalies 46.8%; renal anomalies 28.6% in cohort subset. (sheppard2021expandingthegenotypic pages 11-13) - Immunologic: in a small tested subset (n=13), abnormal immunoglobulins 53.8% and insufficient pneumococcal response 30.8%; recurrent infections 25.7% overall. (sheppard2021expandingthegenotypic pages 11-13)

Visual evidence: Cohort phenotype distributions and dysmorphism/hypertrichosis patterns are summarized in Sheppard et al. Figures 2–3. (sheppard2021expandingthegenotypic media eacdfc98, sheppard2021expandingthegenotypic media 4a2ea034)

Population-specific variability: In a Chinese cohort (n=11), short stature and developmental delay were each 90.9%; PDA 57.1%, PFO 42.9%, and abnormal corpus callosum 50% were frequent imaging findings. (lin2023novelvariantsand pages 1-2)

3.2 Neurocognitive and behavioral phenotype (recent, 2023–2024 priority)

Neuropsychological profile (2023): Most patients performed in “below average to very low” ranges for nonverbal reasoning, visuospatial skills, attention/working memory, and math; >50% had normal-range receptive vocabulary/verbal memory/word reading; nonverbal reasoning weaker than verbal reasoning (p = .005). (ng2023individualswithwiedemannsteiner pages 1-2)

Clinic-based severity distribution (2024 real-world cohort): In a specialized Epigenetics and Chromatin Clinic, among 14 WSS patients, cognitive impairment was distributed as borderline/GDD above cutoff 21.4%, mild ID 57.1%, moderate ID 21.4%. (harris2024fiveyearsof pages 7-9)

3.3 Phenotype characteristics: onset, progression, and severity

• Onset: typically congenital/early childhood with early developmental delay and postnatal growth deficiency. (ng2023individualswithwiedemannsteiner pages 1-2, sheppard2021expandingthegenotypic pages 3-4)
• Developmental trajectory: median age at walking 20 months and first words 18 months; ranges can extend to 60 months. (sheppard2021expandingthegenotypic pages 11-13)
• Adulthood: adult outcomes are variable; in one cohort summary of 23 adults, most completed high school (17/18 with schooling data), few attended tertiary education (3), and employment was limited (10 unemployed). (sheppard2021expandingthegenotypic pages 11-13)

3.4 HPO term suggestions (non-exhaustive)

(Representative mappings for knowledge-base entry) - Global developmental delay — HP:0001263 - Intellectual disability — HP:0001249 - Hypotonia — HP:0001252 - Seizures — HP:0001250 - Short stature — HP:0004322 - Failure to thrive — HP:0001508 - Feeding difficulties — HP:0011968 - Constipation — HP:0002019 - Hypertrichosis cubiti — HP:0004558 (commonly used clinically for elbow hypertrichosis) - Abnormal corpus callosum morphology — HP:0001273 - Patent ductus arteriosus — HP:0001643 - Patent foramen ovale — HP:0001655 - Scoliosis — HP:0002650 - Strabismus — HP:0000486

(HPO codes are standard; specific HPO coding was not enumerated in the retrieved text and is provided as ontology mapping consistent with phenotype names.)

4. Genetic / Molecular Information

4.1 Causal gene

• KMT2A (lysine methyltransferase 2A; histone H3K4 methyltransferase; epigenetic “writer”). (foroutan2022clinicalutilityof pages 2-3, ng2023individualswithwiedemannsteiner pages 1-2)

4.2 Pathogenic variant classes and frequencies

Largest cohort variant spectrum (n=104; 82 distinct variants): - Frameshift 37.8% - Nonsense 29.3% - Missense 20.7% - Splice-site 11% - Most variants detected by exome sequencing; 80/82 absent from gnomAD v2.1.1. (sheppard2021expandingthegenotypic pages 4-6)

Genotype–phenotype correlations: hypotonia associated with loss-of-function variants; seizures associated with non-loss-of-function variants. (sheppard2021expandingthegenotypic pages 3-4)

4.3 Variant interpretation challenges and epigenetic functional testing

Variant classification can be difficult for rare missense/VUS in KMT2A; a genome-wide DNA methylation episignature has been proposed/used as a functional biomarker to classify VUS and confirm diagnoses. (foroutan2022clinicalutilityof pages 2-3)

Independent validation (2024): Husson et al. reported that their leave-one-out episignature approach achieved 100% specificity overall but that signatures vary widely; the KMT2A episignature reached “70–100% sensitivity at best with unstable performances,” suggesting it can be useful but requires cautious interpretation and larger validation datasets. (husson2024episignaturesinpractice pages 1-2)

5. Environmental Information

No specific environmental contributors, lifestyle factors, or infectious triggers for disease onset are supported by the retrieved evidence; WSS is primarily a genetic haploinsufficiency syndrome.

6. Mechanism / Pathophysiology

6.1 Epigenetic/transcriptional dysregulation (upstream mechanism)

KMT2A encodes an H3K4 methyltransferase essential for development; pathogenic variants cause chromatin remodeling defects and dysregulated gene expression. (foroutan2022clinicalutilityof pages 2-3, yu2022wiedemann–steinersyndromecase pages 1-2)

Methylation biomarker insight: Foroutan et al. reported that the methylation changes “involve global reduction in methylation in various genes, including homeobox gene promoters,” supporting developmental transcriptional dysregulation as a unifying mechanism for pleiotropy. (foroutan2022clinicalutilityof pages 2-3)

6.2 Centrosome and microtubule nucleation dysfunction (2024 mechanistic advance)

A major recent mechanistic development is the demonstration that KMT2A/MLL1 has a centrosomal function via WDR5 and Cep72: - The MLL/KMT2A–WDR5 complex localizes to pericentriolar material and interacts with Cep72 and γ-TuRC components. - Loss of MLL/WDR5 impairs microtubule nucleation/regrowth and disrupts spindle formation. - Importantly, similar defects were observed in patient-derived cells from WSS individuals (reduced centrosomal localization of AKAP9, NEDD1, γ-tubulin, and Cep72, with impaired microtubule nucleation), providing disease-relevant cellular pathophysiology. (chodisetty2024mllwdr5complexrecruits pages 1-2, chodisetty2024mllwdr5complexrecruits pages 13-14)

6.3 Transcriptomic profiling in patient-derived fibroblasts

RNA-seq of fibroblasts from 4 WSS patients (vs 5 controls) identified 1,181 DEGs (p<0.05) and 188 DEGs (p<0.01; fold change>2) with predominance of downregulation; pathway analysis highlighted eNOS signaling and axonal guidance among enriched pathways, linking KMT2A loss to neurodevelopmental and hair-growth pathways. (mietton2018rnasequencingand pages 4-5)

6.4 Model organism evidence (translational mechanisms)

Mouse models demonstrate neurobehavioral and neuronal-structure phenotypes consistent with WSS biology: - Kmt2a haploinsufficiency and Kdm5c deficiency share reduced dendritic spines and increased aggression; double mutants partially rescue dendritic morphology, behavior, transcriptomes, and H3K4me landscapes—supporting the concept that balancing writer/eraser activity can ameliorate phenotypes in principle. (vallianatos2020mutuallysuppressiveroles pages 1-2)

6.5 Suggested ontology terms

GO Biological Process (examples): - Histone H3-K4 methylation — GO:0051568 - Chromatin organization — GO:0006325 - Regulation of transcription, DNA-templated — GO:0006355 - Microtubule nucleation — GO:0007020 - Mitotic spindle organization — GO:0007052

Cell types (CL examples; context-dependent): - Neuron — CL:0000540 - Neural progenitor cell — CL:0000047 - B cell (patient-derived lymphocytes used in mechanism study) — CL:0000236

Anatomy (UBERON examples): - Brain — UBERON:0000955 - Cerebral cortex — UBERON:0001851 - Pituitary gland — UBERON:0000007

(These ontology IDs are standard mappings of terms used in studies; the retrieved texts did not enumerate ontology IDs explicitly.)

7. Anatomical Structures Affected

Based on phenotype distributions and mechanistic studies, WSS primarily affects: - Central nervous system/brain (neurodevelopmental delay, structural brain abnormalities such as corpus callosum anomalies) (sheppard2021expandingthegenotypic pages 6-11, lin2023novelvariantsand pages 1-2) - Endocrine/growth axis (short stature, GH deficiency, pituitary MRI abnormalities in subset) (sheppard2021expandingthegenotypic pages 11-13) - Cardiovascular system (cardiac anomalies; PDA/PFO in some cohorts) (sheppard2021expandingthegenotypic pages 6-11, lin2023novelvariantsand pages 1-2) - GI system (feeding difficulties, constipation) (sheppard2021expandingthegenotypic pages 3-4) - Musculoskeletal system (vertebral anomalies, scoliosis) (sheppard2021expandingthegenotypic pages 3-4, sheppard2021expandingthegenotypic pages 11-13) - Integument/hair (hypertrichosis patterns) (sheppard2021expandingthegenotypic media eacdfc98)

Subcellular localization/mechanisms implicated include nuclear chromatin regulation and centrosome/pericentriolar material functions. (foroutan2022clinicalutilityof pages 2-3, chodisetty2024mllwdr5complexrecruits pages 1-2)

8. Temporal Development

• Typical onset: congenital/infancy with developmental delay and growth deficiency. (sheppard2021expandingthegenotypic pages 3-4)
• Course: chronic/lifelong neurodevelopmental disorder with variable severity; adults show variable independence and employment outcomes. (sheppard2021expandingthegenotypic pages 11-13)

9. Inheritance and Population

9.1 Inheritance

• Autosomal dominant with predominantly de novo pathogenic variants. (ng2023individualswithwiedemannsteiner pages 1-2, sheppard2021expandingthegenotypic pages 6-11)
• Familial transmission and mosaicism reported in a minority. (baer2018wiedemann‐steinersyndromeas pages 1-2, ng2023individualswithwiedemannsteiner pages 1-2)

9.2 Epidemiology

Published estimates vary across sources: - Lin et al. (2023) state prevalence <1/1,000,000 and <400 reported cases worldwide (reflecting underdiagnosis and earlier ascertainment). (lin2023novelvariantsand pages 2-3) - Yu et al. (2022 review) reports a revised estimate from 1/100,000 to ~1/25,000–40,000 with increasing identification through sequencing. (yu2022wiedemann–steinersyndromecase pages 1-2)

These discrepancies likely reflect ascertainment differences and evolving molecular diagnosis; robust population prevalence remains uncertain in the retrieved evidence.

10. Diagnostics

10.1 Genetic testing (current practice)

• Exome sequencing (WES) is heavily utilized in cohorts and case reports and captures diverse variant classes; in one Korean cohort, 9/10 were diagnosed by exome sequencing, with one microdeletion detected by chromosomal microarray. (lin2023novelvariantsand pages 2-3)
• Copy-number testing (CMA/qPCR/MLPA as appropriate) is needed for intragenic/multi-exon deletions and 11q23.3 deletions encompassing KMT2A; Chinese cohort used qPCR to assess multi-exon deletions. (lin2023novelvariantsand pages 2-3)

10.2 DNA methylation episignature testing (2023–2024 development)

• A KMT2A-related DNA methylation episignature has been proposed as a molecular biomarker to confirm diagnosis and classify VUS. (foroutan2022clinicalutilityof pages 2-3)
• Independent evaluation emphasizes high specificity but variable sensitivity; for KMT2A “70–100% sensitivity at best with unstable performances.” (husson2024episignaturesinpractice pages 1-2)

10.3 Differential diagnosis

WSS overlaps with other chromatinopathies (e.g., Kabuki syndrome [KMT2D], Rubinstein–Taybi, Coffin–Siris, Kleefstra), complicating phenotype-only diagnosis. (vallianatos2020mutuallysuppressiveroles pages 1-2, foroutan2022clinicalutilityof pages 2-3)

11. Outcome / Prognosis

• Survival/life expectancy: not quantified in retrieved evidence; no cohort-based mortality estimates available here.
• Functional outcomes: variable; in the adult subset of the 104-person cohort, most completed high school but many required special education; tertiary education was uncommon and employment limited (10/23 adults unemployed). (sheppard2021expandingthegenotypic pages 11-13)
• Complications: multi-system involvement is common (cardiac, endocrine, immunologic), supporting multidisciplinary surveillance. (sheppard2021expandingthegenotypic pages 11-13, sheppard2021expandingthegenotypic pages 6-11)

12. Treatment

12.1 Current standard of care (symptomatic/supportive)

WSS management is typically multidisciplinary and symptom-directed: - Developmental interventions: early intervention, PT/OT/speech therapy; PT case study supports early PT from infancy and goal-based functional outcome tracking. (mendoza2020physicaltherapymanagement pages 1-2) - Feeding/nutrition: management of feeding difficulties and tube feeding when necessary (25.5% in one cohort). (sheppard2021expandingthegenotypic pages 11-13) - Neurobehavioral care: educational supports, neuropsychological evaluation, ADHD/anxiety management as indicated; cognitive profile studies support targeted accommodations. (ng2023individualswithwiedemannsteiner pages 1-2, harris2024fiveyearsof pages 5-7) - System surveillance: cardiac evaluation, neuroimaging when indicated, endocrine evaluation for growth/pubertal abnormalities, and immune workup in those with recurrent infections. (baer2018wiedemann‐steinersyndromeas pages 10-11, sheppard2021expandingthegenotypic pages 11-13)

12.2 Recombinant human growth hormone (rhGH) for short stature / GH deficiency

Evidence is largely from case series and observational cohorts: - In Sheppard et al., GH deficiency was noted in 18.8% of an endocrine-evaluated subset; GH therapy was given to 3 and recommended to 3 more. (sheppard2021expandingthegenotypic pages 11-13) - A 2023 case report documented provocation peak GH 6.9 ng/mL and improvement of height to the 10th percentile after 1 year of rhGH. (kim2023growthhormonedeficiency pages 1-2)

(Additional rhGH quantitative outcomes exist in 2025 literature retrieved but post-date the requested 2023–2024 prioritization; they are not required to establish current practice trends.) (wang2025diagnosisandrecombinant pages 1-2)

12.3 Experimental / targeted therapeutics

No clinical trials were identified for treating WSS neurodevelopmental features directly in the retrieved evidence. The clinical trials retrieved for “KMT2A” primarily target KMT2A-rearranged leukemias and are not applicable to WSS.

12.4 MAXO term suggestions (examples)

• Recombinant human growth hormone therapy — MAXO:0000600 (growth hormone therapy)
• Physical therapy — MAXO:0000011
• Occupational therapy — MAXO:0000012
• Speech therapy — MAXO:0000026
• Genetic counseling — MAXO:0000079

(MAXO codes are provided as standard mappings; not enumerated in retrieved text.)

13. Prevention

Primary prevention of de novo WSS is not established. Standard approaches include: - Genetic counseling regarding recurrence risk (generally low for de novo variants but higher with parental mosaicism). Mosaicism has been documented, supporting discussion of recurrence possibilities. (baer2018wiedemann‐steinersyndromeas pages 1-2, ng2023individualswithwiedemannsteiner pages 1-2) - Prenatal/preimplantation testing is feasible when a familial pathogenic variant is known (not directly evidenced in retrieved texts).

14. Other Species / Natural Disease

No naturally occurring veterinary WSS analogs were identified in retrieved evidence.

15. Model Organisms

• Mouse models: Kmt2a haploinsufficient mice model aspects of WSS neurobiology, with behavioral and dendritic spine phenotypes; interaction with Kdm5c suggests potential compensatory mechanisms via epigenetic balance. (vallianatos2020mutuallysuppressiveroles pages 1-2, vallianatos2020mutuallysuppressiveroles pages 2-3)
• Cell models: patient-derived B lymphocytes show centrosome/microtubule nucleation defects consistent with KMT2A/MLL1–WDR5 mechanism. (chodisetty2024mllwdr5complexrecruits pages 13-14, chodisetty2024mllwdr5complexrecruits pages 1-2)
• Patient-derived fibroblasts: transcriptomic dysregulation and pathway enrichment (eNOS signaling, axonal guidance) with targeted H3K4me3 profiling. (mietton2018rnasequencingand pages 4-5)

Recent developments (2023–2024) — Highlights

1. Neurocognitive profiling (2023): evidence for a syndrome-specific cognitive pattern emphasizing nonverbal/visuospatial weaknesses and relative verbal sparing, enabling targeted educational interventions. (ng2023individualswithwiedemannsteiner pages 1-2)
2. Clinical adoption of episignatures (2024): independent validation underscores the promise and limitations of KMT2A episignature testing (high specificity; variable/unstable sensitivity), supporting cautious implementation in molecular diagnostics. (husson2024episignaturesinpractice pages 1-2)
3. Mechanistic advance (2024): discovery of centrosomal role of KMT2A/MLL1–WDR5 with patient-cell phenocopy provides a new cellular disease axis beyond transcriptional regulation alone. (chodisetty2024mllwdr5complexrecruits pages 1-2)

Summary Table (curated)

The following artifact consolidates key quantitative findings (phenotype frequencies, milestones, variant spectrum) from the highest-yield cohort and supporting studies.

Table: This table compiles key quantitative findings for Wiedemann–Steiner syndrome across major cohort and review papers, emphasizing phenotype frequencies, developmental milestones, and KMT2A variant spectrum statistics. It is useful as a quick-reference evidence summary for clinical and knowledge-base curation.

Key URLs and publication dates (from retrieved evidence)

• Sheppard et al., Am J Med Genet A (2021-03): https://doi.org/10.1002/ajmg.a.62124 (sheppard2021expandingthegenotypic pages 3-4)
• Lin et al., Front Genet (2023-03): https://doi.org/10.3389/fgene.2023.1085210 (lin2023novelvariantsand pages 1-2)
• Ng et al., J Int Neuropsychol Soc (2023-09): https://doi.org/10.1017/S1355617722000467 (ng2023individualswithwiedemannsteiner pages 1-2)
• Husson et al., Eur J Hum Genet (2024-10): https://doi.org/10.1038/s41431-023-01474-x (husson2024episignaturesinpractice pages 1-2)
• Harris et al., Human Genetics (2024-03): https://doi.org/10.1007/s00439-023-02537-1 (harris2024fiveyearsof pages 7-9)
• Chodisetty et al., Science Advances (2024-12): https://doi.org/10.1126/sciadv.adn0086 (chodisetty2024mllwdr5complexrecruits pages 1-2)
• Foroutan et al., Int J Mol Sci (2022-02): https://doi.org/10.3390/ijms23031815 (foroutan2022clinicalutilityof pages 2-3)
• Mietton et al., NeuroMolecular Medicine (2018-07): https://doi.org/10.1007/s12017-018-8502-1 (mietton2018rnasequencingand pages 4-5)

Limitations of this tool-based report

• Not all requested identifiers (Orphanet, ICD-10/ICD-11, MeSH) were retrievable with the available tool evidence; they should be added from OMIM/Orphanet/WHO ICD resources.
• Some “expert opinions” (e.g., consensus guidelines, GeneReviews) were not obtained in the current retrieval set.
• Prevalence estimates vary substantially across sources; robust population epidemiology remains uncertain in the retrieved evidence set. (lin2023novelvariantsand pages 2-3, yu2022wiedemann–steinersyndromecase pages 1-2)

References

1. (sheppard2021expandingthegenotypic pages 3-4): Sarah E. Sheppard, Ian M. Campbell, Margaret H. Harr, Nina Gold, Dong Li, Hans T. Bjornsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline R. Harris, Catherine Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Pedro A. Sanchez‐Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul‐Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie D. Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca Miller, Beverly Nelson, Malgorzata J. Nowaczyk, Zuhair Rahbeeni, Shay Ben‐Shachar, Joseph T. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary‐Alice Abbott, Dawn C. Allain, Louise Amlie‐Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores‐Daboub, Holly Dubbs, Carolyn A. Felix, Chin‐To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui‐Yan Kwok, Rebekah K. Jobling, Amy E. Knight Johnson, Jessica Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth McCormick, D. Ross McLeod, Frank D. Mentch, Kelly Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina N. Powell‐Hamilton, Zoe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois Starr, Joan Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk, Hakon Hakonarson, Elaine H. Zackai, and Fabiola Quintero‐Rivera. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with wiedemann‐steiner syndrome. American Journal of Medical Genetics Part A, 185:1649-1665, Mar 2021. URL: https://doi.org/10.1002/ajmg.a.62124, doi:10.1002/ajmg.a.62124. This article has 79 citations.

2. (sheppard2021expandingthegenotypic pages 11-13): Sarah E. Sheppard, Ian M. Campbell, Margaret H. Harr, Nina Gold, Dong Li, Hans T. Bjornsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline R. Harris, Catherine Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Pedro A. Sanchez‐Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul‐Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie D. Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca Miller, Beverly Nelson, Malgorzata J. Nowaczyk, Zuhair Rahbeeni, Shay Ben‐Shachar, Joseph T. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary‐Alice Abbott, Dawn C. Allain, Louise Amlie‐Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores‐Daboub, Holly Dubbs, Carolyn A. Felix, Chin‐To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui‐Yan Kwok, Rebekah K. Jobling, Amy E. Knight Johnson, Jessica Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth McCormick, D. Ross McLeod, Frank D. Mentch, Kelly Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina N. Powell‐Hamilton, Zoe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois Starr, Joan Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk, Hakon Hakonarson, Elaine H. Zackai, and Fabiola Quintero‐Rivera. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with wiedemann‐steiner syndrome. American Journal of Medical Genetics Part A, 185:1649-1665, Mar 2021. URL: https://doi.org/10.1002/ajmg.a.62124, doi:10.1002/ajmg.a.62124. This article has 79 citations.

3. (sheppard2021expandingthegenotypic pages 6-11): Sarah E. Sheppard, Ian M. Campbell, Margaret H. Harr, Nina Gold, Dong Li, Hans T. Bjornsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline R. Harris, Catherine Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Pedro A. Sanchez‐Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul‐Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie D. Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca Miller, Beverly Nelson, Malgorzata J. Nowaczyk, Zuhair Rahbeeni, Shay Ben‐Shachar, Joseph T. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary‐Alice Abbott, Dawn C. Allain, Louise Amlie‐Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores‐Daboub, Holly Dubbs, Carolyn A. Felix, Chin‐To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui‐Yan Kwok, Rebekah K. Jobling, Amy E. Knight Johnson, Jessica Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth McCormick, D. Ross McLeod, Frank D. Mentch, Kelly Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina N. Powell‐Hamilton, Zoe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois Starr, Joan Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk, Hakon Hakonarson, Elaine H. Zackai, and Fabiola Quintero‐Rivera. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with wiedemann‐steiner syndrome. American Journal of Medical Genetics Part A, 185:1649-1665, Mar 2021. URL: https://doi.org/10.1002/ajmg.a.62124, doi:10.1002/ajmg.a.62124. This article has 79 citations.

4. (ng2023individualswithwiedemannsteiner pages 1-2): Rowena Ng, Jacqueline Harris, Jill A. Fahrner, and Hans Tomas Bjornsson. Individuals with wiedemann-steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparing. Journal of the International Neuropsychological Society, 29:512-518, Sep 2023. URL: https://doi.org/10.1017/s1355617722000467, doi:10.1017/s1355617722000467. This article has 16 citations and is from a domain leading peer-reviewed journal.

5. (foroutan2022clinicalutilityof pages 2-3): Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Marcello Niceta, Andrea Ciolfi, Lucia Pedace, Evelina Miele, David Genevieve, Solveig Heide, Mariëlle Alders, Giuseppe Zampino, Giuseppe Merla, Mélanie Fradin, Eric Bieth, Dominique Bonneau, Klaus Dieterich, Patricia Fergelot, Elise Schaefer, Laurence Faivre, Antonio Vitobello, Silvia Maitz, Rita Fischetto, Cristina Gervasini, Maria Piccione, Ingrid van de Laar, Marco Tartaglia, Bekim Sadikovic, and Anne-Sophie Lebre. Clinical utility of a unique genome-wide dna methylation signature for kmt2a-related syndrome. International Journal of Molecular Sciences, 23:1815, Feb 2022. URL: https://doi.org/10.3390/ijms23031815, doi:10.3390/ijms23031815. This article has 23 citations.

6. (OpenTargets Search: Wiedemann-Steiner syndrome-KMT2A): Open Targets Query (Wiedemann-Steiner syndrome-KMT2A, 1 results). Buniello, A. et al. (2025). Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery. Nucleic Acids Research.

7. (harris2024fiveyearsof pages 7-9): Jacqueline R. Harris, Christine W. Gao, Jacquelyn F. Britton, Carolyn D. Applegate, Hans T. Bjornsson, and Jill A. Fahrner. Five years of experience in the epigenetics and chromatin clinic: what have we learned and where do we go from here? Human Genetics, 143:1-18, Mar 2024. URL: https://doi.org/10.1007/s00439-023-02537-1, doi:10.1007/s00439-023-02537-1. This article has 40 citations and is from a peer-reviewed journal.

8. (lin2023novelvariantsand pages 2-3): Yunting Lin, Xiaohong Chen, Bobo Xie, Zhihong Guan, Xiaodan Chen, Xiuzhen Li, Peng Yi, Rong Du, Huifen Mei, Li Liu, Wen Zhang, and Chunhua Zeng. Novel variants and phenotypic heterogeneity in a cohort of 11 chinese children with wiedemann-steiner syndrome. Frontiers in Genetics, Mar 2023. URL: https://doi.org/10.3389/fgene.2023.1085210, doi:10.3389/fgene.2023.1085210. This article has 10 citations and is from a peer-reviewed journal.

9. (yu2022wiedemann–steinersyndromecase pages 7-8): Huan Yu, Guijiao Zhang, Shengxu Yu, and Wei Wu. Wiedemann–steiner syndrome: case report and review of literature. Children, 9:1545, Oct 2022. URL: https://doi.org/10.3390/children9101545, doi:10.3390/children9101545. This article has 16 citations.

10. (husson2024episignaturesinpractice pages 1-2): Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar, Séverine AUDEBERT-BELLANGER, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie-Noelle Bonnet-Dupeyron, Elise Brischoux-Boucher, Céline Bonnet, Marie Bournez, Odile Boute, Perrine Brunelle, Roseline Caumes, Perrine Charles, Nicolas Chassaing, Nicolas Chatron, Benjamin Cogné, Estelle Colin, Valérie Cormier-Daire, Rodolphe Dard, Benjamin Dauriat, Julian Delanne, Jean-François Deleuze, Florence Demurger, Anne-Sophie Denommé-Pichon, Christel Depienne, Anne Dieux Coeslier, Christèle Dubourg, Patrick Edery, salima EL CHEHADEH, Laurence Faivre, Mélanie FRADIN, Aurore Garde, David Geneviève, Brigitte Gilbert-Dussardier, Cyril Goizet, Alice Goldenberg, Evan Gouy, Anne-Marie Guerrot, Anne Guimier, Ines HARZALLAH, Delphine Héron, Bertrand Isidor, Xavier Le Guillou Horn, Boris Keren, Alma Kuechler, Elodie Lacaze, Alinoë Lavillaureix, Daphné Lehalle, Gaetan Lesca, James Lespinasse, Jonathan Levy, Stanislas Lyonnet, Godelieve Morel, Nolwenn Jean Marçais, Sandrine Marlin, Luisa Marsili, Cyril Mignot, Sophie Nambot, Mathilde Nizon, Robert Olaso, Laurent PASQUIER, Laurine Perrin, Florence Petit, Amélie Piton, Fabienne Prieur, Audrey Putoux, Marc Planes, Sylvie Odent, Chloé Quelin, Sylvia Quemener, Mélanie Rama, Marlène RIO, Massimiliano Rossi, Elise Schaefer, Sophie Rondeau, Pascale SAUGIER-VEBER, Thomas Smol, Sabine Sigaudy, Renaud TOURAINE, Frédéric Tran-Mau-Them, Aurélien Trimouille, Clémence Vanlerberghe, Valérie Vantalon, Gabriella Vera, Marie Vincent, Alban Ziegler, Olivier Guillin, Dominique Campion, and Camille Charbonnier. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders. European Journal of Human Genetics, 32:190-199, Oct 2024. URL: https://doi.org/10.1038/s41431-023-01474-x, doi:10.1038/s41431-023-01474-x. This article has 38 citations and is from a domain leading peer-reviewed journal.

11. (harris2024fiveyearsof pages 5-7): Jacqueline R. Harris, Christine W. Gao, Jacquelyn F. Britton, Carolyn D. Applegate, Hans T. Bjornsson, and Jill A. Fahrner. Five years of experience in the epigenetics and chromatin clinic: what have we learned and where do we go from here? Human Genetics, 143:1-18, Mar 2024. URL: https://doi.org/10.1007/s00439-023-02537-1, doi:10.1007/s00439-023-02537-1. This article has 40 citations and is from a peer-reviewed journal.

12. (yu2022wiedemann–steinersyndromecase pages 1-2): Huan Yu, Guijiao Zhang, Shengxu Yu, and Wei Wu. Wiedemann–steiner syndrome: case report and review of literature. Children, 9:1545, Oct 2022. URL: https://doi.org/10.3390/children9101545, doi:10.3390/children9101545. This article has 16 citations.

13. (sheppard2021expandingthegenotypic pages 4-6): Sarah E. Sheppard, Ian M. Campbell, Margaret H. Harr, Nina Gold, Dong Li, Hans T. Bjornsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline R. Harris, Catherine Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Pedro A. Sanchez‐Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul‐Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie D. Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca Miller, Beverly Nelson, Malgorzata J. Nowaczyk, Zuhair Rahbeeni, Shay Ben‐Shachar, Joseph T. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary‐Alice Abbott, Dawn C. Allain, Louise Amlie‐Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores‐Daboub, Holly Dubbs, Carolyn A. Felix, Chin‐To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui‐Yan Kwok, Rebekah K. Jobling, Amy E. Knight Johnson, Jessica Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth McCormick, D. Ross McLeod, Frank D. Mentch, Kelly Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina N. Powell‐Hamilton, Zoe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois Starr, Joan Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk, Hakon Hakonarson, Elaine H. Zackai, and Fabiola Quintero‐Rivera. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with wiedemann‐steiner syndrome. American Journal of Medical Genetics Part A, 185:1649-1665, Mar 2021. URL: https://doi.org/10.1002/ajmg.a.62124, doi:10.1002/ajmg.a.62124. This article has 79 citations.

14. (baer2018wiedemann‐steinersyndromeas pages 1-2): S. Baer, A. Afenjar, T. Smol, A. Piton, B. Gérard, Y. Alembik, T. Bienvenu, G. Boursier, O. Boute, C. Colson, M.‐P. Cordier, V. Cormier‐Daire, B. Delobel, M. Doco‐Fenzy, B. Duban‐Bedu, M. Fradin, D. Geneviève, A. Goldenberg, M. Grelet, D. Haye, D. Heron, B. Isidor, B. Keren, D. Lacombe, A.‐S. Lèbre, G. Lesca, A. Masurel, M. Mathieu‐Dramard, C. Nava, L. Pasquier, A. Petit, N. Philip, J. Piard, S. Rondeau, P. Saugier‐Veber, S. Sukno, J. Thevenon, J. Van‐Gils, C. Vincent‐Delorme, M. Willems, E. Schaefer, and G. Morin. Wiedemann‐steiner syndrome as a major cause of syndromic intellectual disability: a study of 33 french cases. Clinical Genetics, 94:141-152, Jul 2018. URL: https://doi.org/10.1111/cge.13254, doi:10.1111/cge.13254. This article has 92 citations and is from a peer-reviewed journal.

15. (sheppard2021expandingthegenotypic media eacdfc98): Sarah E. Sheppard, Ian M. Campbell, Margaret H. Harr, Nina Gold, Dong Li, Hans T. Bjornsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline R. Harris, Catherine Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Pedro A. Sanchez‐Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul‐Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie D. Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca Miller, Beverly Nelson, Malgorzata J. Nowaczyk, Zuhair Rahbeeni, Shay Ben‐Shachar, Joseph T. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary‐Alice Abbott, Dawn C. Allain, Louise Amlie‐Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores‐Daboub, Holly Dubbs, Carolyn A. Felix, Chin‐To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui‐Yan Kwok, Rebekah K. Jobling, Amy E. Knight Johnson, Jessica Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth McCormick, D. Ross McLeod, Frank D. Mentch, Kelly Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina N. Powell‐Hamilton, Zoe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois Starr, Joan Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk, Hakon Hakonarson, Elaine H. Zackai, and Fabiola Quintero‐Rivera. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with wiedemann‐steiner syndrome. American Journal of Medical Genetics Part A, 185:1649-1665, Mar 2021. URL: https://doi.org/10.1002/ajmg.a.62124, doi:10.1002/ajmg.a.62124. This article has 79 citations.

16. (sheppard2021expandingthegenotypic media 4a2ea034): Sarah E. Sheppard, Ian M. Campbell, Margaret H. Harr, Nina Gold, Dong Li, Hans T. Bjornsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline R. Harris, Catherine Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Pedro A. Sanchez‐Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul‐Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie D. Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca Miller, Beverly Nelson, Malgorzata J. Nowaczyk, Zuhair Rahbeeni, Shay Ben‐Shachar, Joseph T. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary‐Alice Abbott, Dawn C. Allain, Louise Amlie‐Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores‐Daboub, Holly Dubbs, Carolyn A. Felix, Chin‐To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui‐Yan Kwok, Rebekah K. Jobling, Amy E. Knight Johnson, Jessica Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth McCormick, D. Ross McLeod, Frank D. Mentch, Kelly Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina N. Powell‐Hamilton, Zoe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois Starr, Joan Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk, Hakon Hakonarson, Elaine H. Zackai, and Fabiola Quintero‐Rivera. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with wiedemann‐steiner syndrome. American Journal of Medical Genetics Part A, 185:1649-1665, Mar 2021. URL: https://doi.org/10.1002/ajmg.a.62124, doi:10.1002/ajmg.a.62124. This article has 79 citations.

17. (lin2023novelvariantsand pages 1-2): Yunting Lin, Xiaohong Chen, Bobo Xie, Zhihong Guan, Xiaodan Chen, Xiuzhen Li, Peng Yi, Rong Du, Huifen Mei, Li Liu, Wen Zhang, and Chunhua Zeng. Novel variants and phenotypic heterogeneity in a cohort of 11 chinese children with wiedemann-steiner syndrome. Frontiers in Genetics, Mar 2023. URL: https://doi.org/10.3389/fgene.2023.1085210, doi:10.3389/fgene.2023.1085210. This article has 10 citations and is from a peer-reviewed journal.

18. (chodisetty2024mllwdr5complexrecruits pages 1-2): Swathi Chodisetty, Aditi Arora, Kausika Kumar Malik, Himanshu Goel, and Shweta Tyagi. Mll/wdr5 complex recruits centriolar satellite protein cep72 to regulate microtubule nucleation and spindle formation. Dec 2024. URL: https://doi.org/10.1126/sciadv.adn0086, doi:10.1126/sciadv.adn0086. This article has 5 citations and is from a highest quality peer-reviewed journal.

19. (chodisetty2024mllwdr5complexrecruits pages 13-14): Swathi Chodisetty, Aditi Arora, Kausika Kumar Malik, Himanshu Goel, and Shweta Tyagi. Mll/wdr5 complex recruits centriolar satellite protein cep72 to regulate microtubule nucleation and spindle formation. Dec 2024. URL: https://doi.org/10.1126/sciadv.adn0086, doi:10.1126/sciadv.adn0086. This article has 5 citations and is from a highest quality peer-reviewed journal.

20. (mietton2018rnasequencingand pages 4-5): Léo Mietton, Nicolas Lebrun, Irina Giurgea, Alice Goldenberg, Benjamin Saintpierre, Juliette Hamroune, Alexandra Afenjar, Pierre Billuart, and Thierry Bienvenu. Rna sequencing and pathway analysis identify important pathways involved in hypertrichosis and intellectual disability in patients with wiedemann–steiner syndrome. NeuroMolecular Medicine, 20:409-417, Jul 2018. URL: https://doi.org/10.1007/s12017-018-8502-1, doi:10.1007/s12017-018-8502-1. This article has 9 citations and is from a peer-reviewed journal.

21. (vallianatos2020mutuallysuppressiveroles pages 1-2): Christina N. Vallianatos, Brynne Raines, Robert S. Porter, Katherine M. Bonefas, Michael C. Wu, Patricia M. Garay, Katie M. Collette, Young Ah Seo, Yali Dou, Catherine E. Keegan, Natalie C. Tronson, and Shigeki Iwase. Mutually suppressive roles of kmt2a and kdm5c in behaviour, neuronal structure, and histone h3k4 methylation. Communications Biology, Mar 2020. URL: https://doi.org/10.1038/s42003-020-1001-6, doi:10.1038/s42003-020-1001-6. This article has 61 citations and is from a peer-reviewed journal.

22. (mendoza2020physicaltherapymanagement pages 1-2): Carmel Mendoza. Physical therapy management of wiedemann-steiner syndrome from birth to 3 years. Pediatric Physical Therapy, 32:E64-E69, Jul 2020. URL: https://doi.org/10.1097/pep.0000000000000714, doi:10.1097/pep.0000000000000714. This article has 6 citations and is from a peer-reviewed journal.

23. (baer2018wiedemann‐steinersyndromeas pages 10-11): S. Baer, A. Afenjar, T. Smol, A. Piton, B. Gérard, Y. Alembik, T. Bienvenu, G. Boursier, O. Boute, C. Colson, M.‐P. Cordier, V. Cormier‐Daire, B. Delobel, M. Doco‐Fenzy, B. Duban‐Bedu, M. Fradin, D. Geneviève, A. Goldenberg, M. Grelet, D. Haye, D. Heron, B. Isidor, B. Keren, D. Lacombe, A.‐S. Lèbre, G. Lesca, A. Masurel, M. Mathieu‐Dramard, C. Nava, L. Pasquier, A. Petit, N. Philip, J. Piard, S. Rondeau, P. Saugier‐Veber, S. Sukno, J. Thevenon, J. Van‐Gils, C. Vincent‐Delorme, M. Willems, E. Schaefer, and G. Morin. Wiedemann‐steiner syndrome as a major cause of syndromic intellectual disability: a study of 33 french cases. Clinical Genetics, 94:141-152, Jul 2018. URL: https://doi.org/10.1111/cge.13254, doi:10.1111/cge.13254. This article has 92 citations and is from a peer-reviewed journal.

24. (kim2023growthhormonedeficiency pages 1-2): Mi Ra Kim, Eun-Gyong Yoo, Seonkyeong Rhie, Go Hun Seo, and Mo Kyung Jung. Growth hormone deficiency in a boy with wiedemann-steiner syndrome: a case report and review. Annals of Pediatric Endocrinology & Metabolism, 28:S25-S28, Dec 2023. URL: https://doi.org/10.6065/apem.2244052.026, doi:10.6065/apem.2244052.026. This article has 5 citations.

25. (wang2025diagnosisandrecombinant pages 1-2): Mengqin Wang, Jiaqian Hu, Zixia Zhang, Xi Wang, Shuxian Yuan, Yixuan Zhao, Yingxian Zhang, Haiyan Wei, Jiajia Chen, Yaodong Zhang, and Yongxing Chen. Diagnosis and recombinant human growth hormone treatment of wiedemann–steiner syndrome: discovery of novel kmt2a variants and review of existing literature. BMC Pediatrics, Jul 2025. URL: https://doi.org/10.1186/s12887-025-05751-0, doi:10.1186/s12887-025-05751-0. This article has 3 citations and is from a peer-reviewed journal.

26. (vallianatos2020mutuallysuppressiveroles pages 2-3): Christina N. Vallianatos, Brynne Raines, Robert S. Porter, Katherine M. Bonefas, Michael C. Wu, Patricia M. Garay, Katie M. Collette, Young Ah Seo, Yali Dou, Catherine E. Keegan, Natalie C. Tronson, and Shigeki Iwase. Mutually suppressive roles of kmt2a and kdm5c in behaviour, neuronal structure, and histone h3k4 methylation. Communications Biology, Mar 2020. URL: https://doi.org/10.1038/s42003-020-1001-6, doi:10.1038/s42003-020-1001-6. This article has 61 citations and is from a peer-reviewed journal.

Artifacts

• Edison artifact artifact-00