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Reelin Pathway Lissencephaly

Reelin Pathway Lissencephaly (Reelin-pathway LIS/LCH): Comprehensive Research Report

2026-06-11
Falcon MONDO:0019450 Model: Edison Scientific Literature 36 citations

Reelin Pathway Lissencephaly (Reelin-pathway LIS/LCH): Comprehensive Research Report

Executive summary

“Reelin pathway lissencephaly” is best captured clinically as lissencephaly with cerebellar hypoplasia (LCH) / lissencephaly 2 (LIS2; Norman–Roberts syndrome) caused primarily by biallelic loss-of-function variants in RELN, with overlapping/related phenotypes caused by biallelic DAB1 variants (RELN-like mild lissencephaly with cerebellar hypoplasia) and biallelic VLDLR variants (cerebellar hypoplasia with gyral simplification). The core mechanism is disruption of the canonical Reelin→VLDLR/ApoER2→DAB1 phosphorylation pathway required for neuronal migration and cortical/cerebellar lamination. Recent (2024) work demonstrates that de novo monoallelic RELN missense variants can cause dominant neuronal migration disorders via a dominant-negative mechanism, broadening inheritance models beyond classic autosomal recessive disease. (hong2000autosomalrecessivelissencephaly pages 1-2, smits2021biallelicdab1variants pages 4-5, donato2022monoallelicandbiallelic pages 1-3, riva2024denovomonoallelic pages 17-17)

Table (click to expand)
Concept Evidence-supported details Key citations (pqac ids) URL/publication year where available
Core disease label Reelin-pathway lissencephaly is most directly represented in the evidence as lissencephaly with cerebellar hypoplasia (LCH), a cortical malformation/neurodevelopmental disorder with simplified or smooth gyri plus cerebellar hypoplasia. (hong2000autosomalrecessivelissencephaly pages 1-2, lossi2019thereelermouse pages 3-6, chang2007theroleof pages 5-6) Hong et al., Nature Genetics (2000): https://doi.org/10.1038/79246; Lossi et al., J Clin Med (2019): https://doi.org/10.3390/jcm8122088
Alternative disease labels / synonyms The evidence explicitly states “Lissencephaly 2 (LIS2)” and that LIS2 is also referred to as “lissencephaly syndrome, Norman–Roberts type or Norman–Roberts syndrome.” (lossi2019thereelermouse pages 3-6) Lossi et al., J Clin Med (2019): https://doi.org/10.3390/jcm8122088
OMIM identifier explicitly present OMIM #257320 is explicitly attached in the evidence to Lissencephaly 2 (LIS2) / Norman–Roberts syndrome. (lossi2019thereelermouse pages 3-6) Lossi et al., J Clin Med (2019): https://doi.org/10.3390/jcm8122088
Primary causal gene: RELN Strongest disease-defining gene in the evidence. Autosomal recessive RELN mutations were linked to LCH/LIS2; 2022 evidence further shows biallelic RELN variants cause severe LIS-CBLH, while monoallelic RELN variants can produce milder/intermediate neuronal migration disorders. (hong2000autosomalrecessivelissencephaly pages 1-2, donato2022monoallelicandbiallelic pages 4-5, donato2022monoallelicandbiallelic pages 1-3, riva2024denovomonoallelic pages 17-17) Hong et al. (2000): https://doi.org/10.1038/79246; Di Donato et al. (2022): https://doi.org/10.1093/brain/awac164; Riva et al. (2024): https://doi.org/10.1172/jci153097
Reelin-pathway gene: DAB1 Biallelic DAB1 splice variants were reported to cause mild lissencephaly and cerebellar hypoplasia with a RELN-like phenotype, supporting inclusion of DAB1-related disease within the Reelin-pathway lissencephaly spectrum. (smits2021biallelicdab1variants pages 4-5) Smits et al., Neurology Genetics (2021): https://doi.org/10.1212/nxg.0000000000000558
Reelin-pathway gene: VLDLR Biallelic VLDLR loss-of-function variants cause a related recessive Reelin-pathway disorder characterized by cerebellar hypoplasia with cerebral gyral simplification; evidence supports overlap with the broader Reelin-pathway lissencephaly/cerebellar hypoplasia spectrum, although some literature distinguishes VLDLR cerebellar hypoplasia from classic RELN-LIS2. (ozcelik2008mutationsinthe pages 1-3, holling2024ahomozygousnonsense pages 1-2, donato2018analysisof17 pages 2-4) Ozcelik et al., PNAS (2008): https://doi.org/10.1073/pnas.0710010105; Holling et al. (2024): https://doi.org/10.1038/s10038-024-01279-w; Di Donato et al. (2018): https://doi.org/10.1038/gim.2018.8
Inheritance pattern RELN-LIS2/LCH: autosomal recessive in classic disease. DAB1-related RELN-like lissencephaly: recessive in the reported case. VLDLR-related cerebellar hypoplasia/gyral simplification: recessive. Newer evidence shows monoallelic/dominant RELN variants can also cause neuronal migration disorders, but the classic Norman–Roberts/LIS2 phenotype remains recessive. (hong2000autosomalrecessivelissencephaly pages 1-2, smits2021biallelicdab1variants pages 4-5, donato2022monoallelicandbiallelic pages 4-5, lossi2019thereelermouse pages 3-6, ozcelik2008mutationsinthe pages 1-3, riva2024denovomonoallelic pages 17-17) Hong et al. (2000): https://doi.org/10.1038/79246; Smits et al. (2021): https://doi.org/10.1212/nxg.0000000000000558; Di Donato et al. (2022): https://doi.org/10.1093/brain/awac164; Riva et al. (2024): https://doi.org/10.1172/jci153097
Hallmark MRI / neuroimaging findings Across the evidence, hallmark imaging includes moderate lissencephaly/pachygyria, thick cerebral cortex (~5–10 mm), simplified gyral pattern (often frontotemporal/temporal-predominant in RELN-related cases), profound/very hypoplastic cerebellum with reduced or absent folia, hypoplastic inferior vermis and hemispheres, malformed or flattened hippocampus, thin corpus callosum, small pons/brainstem, and enlarged lateral ventricles. VLDLR-related imaging emphasizes inferior cerebellar vermis/hemisphere hypoplasia, simplified cortical gyration, and small brain stem. (hong2000autosomalrecessivelissencephaly pages 1-2, lossi2019thereelermouse pages 3-6, donato2022monoallelicandbiallelic pages 4-5, holling2024ahomozygousnonsense pages 1-2, ozcelik2008mutationsinthe pages 1-3) Hong et al. (2000): https://doi.org/10.1038/79246; Lossi et al. (2019): https://doi.org/10.3390/jcm8122088; Di Donato et al. (2022): https://doi.org/10.1093/brain/awac164; Holling et al. (2024): https://doi.org/10.1038/s10038-024-01279-w; Ozcelik et al. (2008): https://doi.org/10.1073/pnas.0710010105
Identifier/diagnostic context in sequencing cohorts In a large lissencephaly cohort, RELN accounted for ~1% of diagnosed cases and VLDLR for <1%, supporting that Reelin-pathway lissencephaly is genetically rare within the broader lissencephaly spectrum. (donato2018analysisof17 pages 2-4) Di Donato et al., Genetics in Medicine (2018): https://doi.org/10.1038/gim.2018.8

Table: This table summarizes the evidence-supported disease names, identifiers, causal genes, inheritance patterns, and hallmark imaging findings for Reelin-pathway lissencephaly. It is useful for mapping the disorder across historical labels such as LIS2 and Norman–Roberts syndrome while distinguishing RELN-, DAB1-, and VLDLR-related forms.

1. Disease information

1.1 Definition and overview

Lissencephaly is a neuronal migration disorder with a “thickened, simplified cortex,” and the Reelin-pathway form is classically lissencephaly with cerebellar hypoplasia (LCH) due to RELN deficiency. (hong2000autosomalrecessivelissencephaly pages 1-2)

A widely used clinical label for the RELN form is Lissencephaly 2 (LIS2), also referred to as “Norman–Roberts type” / “Norman–Roberts syndrome.” (lossi2019thereelermouse pages 3-6)

1.2 Key identifiers (available from retrieved evidence)

  • OMIM: LIS2 / Norman–Roberts syndrome OMIM #257320 (explicit in reviewed evidence). (lossi2019thereelermouse pages 3-6)
  • MONDO / Orphanet / ICD-10/ICD-11 / MeSH: Not directly retrievable from the current evidence corpus using the available tools; therefore not reported here.

1.3 Common synonyms and alternative names

1.4 Evidence source types

2. Etiology

2.1 Disease causal factors

Primary causal factor: germline pathogenic variants disrupting Reelin signaling, most often resulting in loss of Reelin function (RELN) or impaired receptor/adaptor signaling (VLDLR, DAB1). (hong2000autosomalrecessivelissencephaly pages 1-2, smits2021biallelicdab1variants pages 4-5, ozcelik2008mutationsinthe pages 1-3)

2.2 Genetic risk factors (causal genes/variants)

RELN (Reelin)

  • Classic disease: autosomal recessive RELN mutations causing LCH (Norman–Roberts/LIS2). (hong2000autosomalrecessivelissencephaly pages 1-2, lossi2019thereelermouse pages 3-6)
  • Spectrum expansion (important recent development): dominant neuronal migration disorders from monoallelic RELN missense variants via dominant-negative effects.
  • Abstract quote (JCI 2024): “The pachygyria-associated de novo heterozygous RELN variants acted as dominant-negative by preventing WT RELN secretion in culture, animal models, and patients, thereby causing dominant NMDs.” (riva2024denovomonoallelic pages 17-17)

DAB1 (Disabled-1)

  • Biallelic splice variants affecting the PTB domain are associated with mild lissencephaly and cerebellar hypoplasia, and authors propose considering loss-of-function DAB1 variants in patients with RELN-like cortical malformations. (smits2021biallelicdab1variants pages 4-5)

VLDLR (Very low-density lipoprotein receptor)

  • Biallelic VLDLR loss-of-function variants cause a recessive neurodevelopmental disorder with cerebellar hypoplasia and gyral simplification; early work mapped families to chromosome 9p24 and identified truncating variants (e.g., R257X). (ozcelik2008mutationsinthe pages 1-3)
  • 2024 isoform-specific insight: a homozygous nonsense variant in alternatively spliced exon 4 was reported in two sisters with ID and microcephaly but normal brain imaging, with authors suggesting that expression of exon-4–lacking neuronal isoforms may protect from the classic cerebellar hypoplasia phenotype. (holling2024ahomozygousnonsense pages 1-2)
  • Abstract quote (J Hum Genet 2024): “The characteristic MRI findings include hypoplasia of the inferior portion of the cerebellar vermis and hemispheres, simplified cortical gyration, and a small brain stem.” (holling2024ahomozygousnonsense pages 1-2)

2.3 Environmental risk/protective factors and gene–environment interactions

No environmental risk factors, protective factors, or gene–environment interaction evidence specific to Reelin-pathway lissencephaly were identified in the retrieved corpus; the disorder is best supported as a Mendelian neurodevelopmental malformation driven by germline variants. (hong2000autosomalrecessivelissencephaly pages 1-2, donato2022monoallelicandbiallelic pages 1-3)

3. Phenotypes

3.1 Core clinical phenotype (human)

In autosomal recessive RELN-associated LCH, reported clinical features include severe neurodevelopmental disability and epilepsy alongside ocular and tone abnormalities. - Human clinical features summarized in the classic study include hypotonia, severe delay in neurological and cognitive development, myopia and nystagmus, and generalized seizures (noted as medication-controllable in those cases). (hong2000autosomalrecessivelissencephaly pages 1-2)

For VLDLR-related disease, reported neurologic findings include ataxia and severe ID. - Primary report described truncal ataxia, profound intellectual disability, and dysarthric speech. (ozcelik2008mutationsinthe pages 1-3)

3.2 Neuroimaging phenotype

RELN-LCH neuroimaging can include a thickened simplified cortex and marked cerebellar hypoplasia. - Review synopsis of LIS2 MRI: “5–10 mm thick cerebral cortex, a malformed hippocampus and a very hypoplastic cerebellum, almost completely devoid of folia.” (lossi2019thereelermouse pages 3-6) - Classic RELN-LCH MRI description includes moderate lissencephaly plus profound cerebellar hypoplasia and associated brainstem/ventricle abnormalities. (hong2000autosomalrecessivelissencephaly pages 1-2)

3.3 Suggested HPO terms (non-exhaustive; for KB annotation)

(These are ontology suggestions aligned to the evidence-backed clinical/imaging findings; they are not claimed as exhaustive.) - Lissencephaly (HP:0001339) - Pachygyria (HP:0001302) - Cerebellar hypoplasia (HP:0001321) - Abnormal cerebellar vermis morphology (HP:0001320) - Global developmental delay (HP:0001263) - Intellectual disability (HP:0001249) - Hypotonia (HP:0001252) - Seizures (HP:0001250) - Nystagmus (HP:0000639) - Myopia (HP:0000545) - Ventriculomegaly (HP:0002119)

3.4 Onset, severity, progression

The phenotype is congenital/early-onset with structural malformations evident on neuroimaging and severe developmental impairment in classic RELN-LCH. (hong2000autosomalrecessivelissencephaly pages 1-2)

3.5 Frequency and QoL impact

Robust phenotype frequencies and standardized QoL instruments (e.g., EQ-5D/SF-36) were not identified in the retrieved corpus for this rare Mendelian disorder. Available evidence is largely from families/cases and malformation cohorts. (hong2000autosomalrecessivelissencephaly pages 1-2, donato2018analysisof17 pages 2-4)

4. Genetic / molecular information

4.1 Causal genes and pathway positioning

4.2 Variant classes and functional consequences

4.3 Population allele frequency information

Population frequencies (e.g., gnomAD AF) and carrier frequencies were not extractable from the retrieved full-text excerpts; one study notes monoallelic RELN rare variants “not seen in gnomAD,” but specific allele frequency values were not captured in the available evidence snippets. (donato2022monoallelicandbiallelic pages 4-5)

5. Environmental information

No disease-specific environmental, lifestyle, or infectious contributors were identified in the retrieved evidence; the disorder is primarily genetically determined. (hong2000autosomalrecessivelissencephaly pages 1-2)

6. Mechanism / pathophysiology

6.1 Canonical causal chain (molecular → cellular → anatomical → clinical)

  1. Initiating trigger: germline pathogenic variants in RELN, VLDLR, or DAB1. (hong2000autosomalrecessivelissencephaly pages 1-2, smits2021biallelicdab1variants pages 4-5, ozcelik2008mutationsinthe pages 1-3)
  2. Upstream molecular defect: reduced/absent Reelin secretion or impaired receptor/adaptor engagement.
  3. RELN recessive variants produce low/undetectable Reelin. (hong2000autosomalrecessivelissencephaly pages 1-2)
  4. 2024 dominant-negative RELN missense prevent secretion of wild-type RELN. (riva2024denovomonoallelic pages 17-17)
  5. Signal transduction defect: Reelin normally binds VLDLR/ApoER2 and induces DAB1 phosphorylation; loss of this cascade disrupts migration/lamination programs. (smits2021biallelicdab1variants pages 4-5)
  6. Cellular process: defective neuronal migration and impaired laminar organization.
  7. Anatomical phenotype: simplified/thickened cortex (lissencephaly/pachygyria), hippocampal malformation, and cerebellar hypoplasia (often severe in classic RELN-LCH). (hong2000autosomalrecessivelissencephaly pages 1-2, lossi2019thereelermouse pages 3-6)
  8. Clinical manifestations: profound developmental delay/intellectual disability, hypotonia/ataxia, seizures, ocular motor findings, etc. (hong2000autosomalrecessivelissencephaly pages 1-2, ozcelik2008mutationsinthe pages 1-3)

6.2 Recent mechanistic developments (prioritize 2023–2024)

  • Dominant-negative vs gain-/loss-of-function effects in RELN missense variants (2024):
  • Abstract quote (JCI 2024): “Polymicrogyria-associated variants behaved as gain-of-function… while those linked to pachygyria behaved as loss-of-function… The pachygyria-associated de novo heterozygous RELN variants acted as dominant-negative…” (riva2024denovomonoallelic pages 17-17)
  • Isoform-level modulation in VLDLR (2024): alternative splicing of exon 4/16 may modulate clinical expressivity (brain isoforms lacking exon 4 potentially protective in one family). (holling2024ahomozygousnonsense pages 1-2)

6.3 Suggested ontology terms for mechanism annotation

GO (biological process) suggestions: - Neuron migration (GO:0001764) - Neuron projection development (GO:0031175) - Cerebral cortex development (GO:0021987) - Cerebellum development (GO:0021549)

Cell Ontology (CL) suggestions: - Cortical pyramidal neuron (e.g., CL:0000540) - Cerebellar Purkinje cell (CL:0000121) - Cerebellar granule cell (CL:0000120)

7. Anatomical structures affected

7.1 Organ/tissue level

Primary: central nervous system—cerebral cortex, cerebellum, hippocampus, and often brainstem/pons and ventricles on imaging. (hong2000autosomalrecessivelissencephaly pages 1-2, lossi2019thereelermouse pages 3-6)

UBERON suggestions: - Cerebral cortex (UBERON:0000956) - Cerebellum (UBERON:0002037) - Hippocampus (UBERON:0001954) - Pons (UBERON:0000988) - Lateral ventricle (UBERON:0002081)

8. Temporal development

The malformation pattern is congenital/early developmental with structural abnormalities detectable on MRI and severe early developmental impact in classic RELN-LCH. (hong2000autosomalrecessivelissencephaly pages 1-2)

9. Inheritance and population

9.1 Inheritance

9.2 Epidemiology and population genetics (what is and is not available)

Direct prevalence/incidence for “Reelin pathway lissencephaly” was not identified in retrieved sources.

However, large sequencing cohorts provide useful rarity estimates within lissencephaly: - In a cohort of 811 patients with lissencephaly/subcortical band heterotopia, overall mutation frequency across 17 genes was 81%, and RELN accounted for ~1% while VLDLR accounted for <1% of subjects. (donato2018analysisof17 pages 2-4)

10. Diagnostics

10.1 Clinical and neuroimaging hallmarks

Hallmark MRI patterns include thickened/simplified cortex (often frontotemporal/temporal-predominant in some RELN-related presentations), hippocampal malformation, and cerebellar hypoplasia (often severe with reduced foliation in classic disease). (hong2000autosomalrecessivelissencephaly pages 1-2, lossi2019thereelermouse pages 3-6, donato2022monoallelicandbiallelic pages 1-3)

10.2 Genetic testing strategies and real-world implementation

Sequencing-based diagnosis is central to clinical implementation: - Large lissencephaly cohort testing supports multi-gene panels and/or WES as effective strategies. - Abstract quote (Genet Med 2018): “The overall mutation frequency in the entire cohort was 81%.” (donato2018analysisof17 pages 2-4) - Exome sequencing for brain malformations in routine practice: - Abstract quote (Brain Communications 2024): “The overall diagnostic yield for the clinical singleton exome sequencing was 36%, which increased to 43% after research follow-up.” (kooshavar2024diagnosticutilityof pages 1-3)

Practical diagnostic workflow (evidence-aligned): 1) Brain MRI phenotype classification (to guide differential and gene prioritization). (donato2018analysisof17 pages 2-4) 2) Chromosomal microarray (often required/used as first-tier in malformation programs), followed by WES or targeted panels when CMA is negative. (kooshavar2024diagnosticutilityof pages 1-3) 3) Variant interpretation with attention to inheritance (biallelic LoF typical for classic LCH; de novo monoallelic missense possible for dominant RELN-related migration disorders). (riva2024denovomonoallelic pages 17-17)

10.3 Differential diagnosis

Not exhaustively derivable from the retrieved evidence corpus. In practice, different lissencephaly genes produce distinct imaging patterns; cohort studies emphasize that “brain-imaging pattern correlates with mutations in single lissencephaly-associated genes, as well as in biological pathways.” (donato2018analysisof17 pages 2-4)

10.4 Screening and prevention

No newborn screening or biochemical screening is supported by retrieved evidence. Prevention in Mendelian disease is primarily via genetic counseling, carrier testing, and prenatal/preimplantation options (not directly evidenced in retrieved excerpts).

11. Outcome / prognosis

Long-term outcome statistics (survival curves, standardized disability scales) were not identified in the retrieved corpus. The classic RELN-LCH description supports a severe neurodevelopmental outcome with profound impairment and seizures (sometimes medication-controlled). (hong2000autosomalrecessivelissencephaly pages 1-2)

12. Treatment

12.1 Current management (real-world implementation)

No disease-modifying therapy is established in the retrieved evidence. Management is supportive and symptom-directed. - In classic autosomal recessive RELN-LCH families, generalized seizures were reported and “could be controlled with medication.” (hong2000autosomalrecessivelissencephaly pages 1-2)

MAXO suggestions (supportive-care aligned): - Antiseizure therapy (e.g., MAXO:0000757 [anticonvulsant therapy] — term suggestion) - Physical therapy / rehabilitation (MAXO term suggestions) - Feeding therapy / management of oral motor difficulty (noted in DAB1 case). (smits2021biallelicdab1variants pages 4-5)

12.2 Experimental therapies and clinical trials

A ClinicalTrials.gov query for “RELN OR reelin AND lissencephaly” did not retrieve lissencephaly-specific interventional trials in the current tool state (retrieved trials were largely unrelated to congenital malformations). Therefore, no disease-specific NCT identifiers can be supported from this search output.

13. Prevention

Evidence in the retrieved corpus does not address primary prevention beyond genetic etiology. For affected families, prevention is typically via reproductive genetic counseling, but such recommendations are not explicitly supported by the retrieved excerpts.

14. Other species / natural disease

15. Model organisms

  • Mouse (reeler; Reln−/−): widely used translational model; review summarizes disrupted lamination of cerebral cortex/hippocampus/cerebellum and motor phenotype, and notes that disruption of pathway components (e.g., DAB1, receptors) yields similar phenotypes. (lossi2019thereelermouse pages 1-3)
  • Mouse receptor/adaptor loss: DAB1 loss or receptor loss produces “Reeler/Disabled-like disruption of neuronal migration” (reviewed). (chang2007theroleof pages 5-6)

Evidence gaps and limitations (explicit)

  • MONDO/Orphanet/ICD/MeSH identifiers, prevalence/incidence, carrier frequencies, and systematic phenotype frequencies/QoL measures were not retrievable from the current tool-accessible full texts.
  • Some key recent disease-specific case reports mentioned by search results (e.g., a 2023 Pediatric Neurology “new RELN mutation”) were listed as unobtainable and could not be included.

Key recent sources (2023–2024 prioritized)

Foundational primary sources

References

  1. (hong2000autosomalrecessivelissencephaly pages 1-2): Susan E. Hong, Yin Yao Shugart, David T. Huang, Saad Al Shahwan, P. Ellen Grant, Jonathan O'B. Hourihane, Neil D.T. Martin, and Christopher A. Walsh. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human reln mutations. Nature Genetics, 26:93-96, Sep 2000. URL: https://doi.org/10.1038/79246, doi:10.1038/79246. This article has 1067 citations and is from a highest quality peer-reviewed journal.

  2. (smits2021biallelicdab1variants pages 4-5): MD Msc Daphne J. Smits, BSc Rachel Schot, PhD Martina Wilke, PhD Marjon van Slegtenhorst, Marie Claire, MD Y. de Wit, Marjolein H.G. Dremmen PhD, M. W. B. Md, PhD A. James Barkovich, and PhD Grazia M.S. Mancini. Biallelic dab1 variants are associated with mild lissencephaly and cerebellar hypoplasia. Neurology Genetics, Apr 2021. URL: https://doi.org/10.1212/nxg.0000000000000558, doi:10.1212/nxg.0000000000000558. This article has 13 citations.

  3. (donato2022monoallelicandbiallelic pages 1-3): Nataliya Di Donato, Renzo Guerrini, Charles J Billington, A James Barkovich, Philine Dinkel, Elena Freri, Michael Heide, Elliot S Gershon, Tracy S Gertler, Robert J Hopkin, Suma Jacob, Sarah K Keedy, Daniz Kooshavar, Paul J Lockhart, Dietmar R Lohmann, Iman G Mahmoud, Elena Parrini, Evelin Schrock, Giulia Severi, Andrew E Timms, Richard I Webster, Mary J H Willis, Maha S Zaki, Joseph G Gleeson, Richard J Leventer, and William B Dobyns. Monoallelic and biallelic mutations in reln underlie a graded series of neurodevelopmental disorders. Brain : a journal of neurology, 145:3274-3287, Jun 2022. URL: https://doi.org/10.1093/brain/awac164, doi:10.1093/brain/awac164. This article has 26 citations.

  4. (riva2024denovomonoallelic pages 17-17): Martina Riva, Sofia Ferreira, Kotaro Hayashi, Yoann Saillour, Vera P. Medvedeva, Takao Honda, Kanehiro Hayashi, Claire Altersitz, Shahad Albadri, Marion Rosello, Julie Dang, Malo Serafini, Frédéric Causeret, Olivia J. Henry, Charles-Joris Roux, Céline Bellesme, Elena Freri, Dragana Josifova, Elena Parrini, Renzo Guerrini, Filippo Del Bene, Kazunori Nakajima, Nadia Bahi-Buisson, and Alessandra Pierani. De novo monoallelic reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism. The Journal of Clinical Investigation, Jul 2024. URL: https://doi.org/10.1172/jci153097, doi:10.1172/jci153097. This article has 9 citations.

  5. (lossi2019thereelermouse pages 3-6): Laura Lossi, Claudia Castagna, Alberto Granato, and Adalberto Merighi. The reeler mouse: a translational model of human neurological conditions, or simply a good tool for better understanding neurodevelopment? Journal of Clinical Medicine, 8:2088, Dec 2019. URL: https://doi.org/10.3390/jcm8122088, doi:10.3390/jcm8122088. This article has 50 citations.

  6. (chang2007theroleof pages 5-6): Bernard S. Chang, Fusun Duzcan, Seonhee Kim, Mine Cinbis, Abha Aggarwal, Kira A. Apse, Osman Ozdel, Munevver Atmaca, Sevil Zencir, Huseyin Bagci, and Christopher A. Walsh. The role of reln in lissencephaly and neuropsychiatric disease. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 144B:58-63, Jan 2007. URL: https://doi.org/10.1002/ajmg.b.30392, doi:10.1002/ajmg.b.30392. This article has 105 citations.

  7. (donato2022monoallelicandbiallelic pages 4-5): Nataliya Di Donato, Renzo Guerrini, Charles J Billington, A James Barkovich, Philine Dinkel, Elena Freri, Michael Heide, Elliot S Gershon, Tracy S Gertler, Robert J Hopkin, Suma Jacob, Sarah K Keedy, Daniz Kooshavar, Paul J Lockhart, Dietmar R Lohmann, Iman G Mahmoud, Elena Parrini, Evelin Schrock, Giulia Severi, Andrew E Timms, Richard I Webster, Mary J H Willis, Maha S Zaki, Joseph G Gleeson, Richard J Leventer, and William B Dobyns. Monoallelic and biallelic mutations in reln underlie a graded series of neurodevelopmental disorders. Brain : a journal of neurology, 145:3274-3287, Jun 2022. URL: https://doi.org/10.1093/brain/awac164, doi:10.1093/brain/awac164. This article has 26 citations.

  8. (ozcelik2008mutationsinthe pages 1-3): Tayfun Ozcelik, Nurten Akarsu, Elif Uz, Safak Caglayan, Suleyman Gulsuner, Onur Emre Onat, Meliha Tan, and Uner Tan. Mutations in the very low-density lipoprotein receptor vldlr cause cerebellar hypoplasia and quadrupedal locomotion in humans. Proceedings of the National Academy of Sciences, 105:4232-4236, Mar 2008. URL: https://doi.org/10.1073/pnas.0710010105, doi:10.1073/pnas.0710010105. This article has 132 citations and is from a highest quality peer-reviewed journal.

  9. (holling2024ahomozygousnonsense pages 1-2): Tess Holling, Ibrahim M. Abdelrazek, Ghada M. Elhady, Marwa Abd Elmaksoud, Seung Woo Ryu, Ebtesam Abdalla, and Kerstin Kutsche. A homozygous nonsense variant in the alternatively spliced vldlr exon 4 causes a neurodevelopmental disorder without features of vldlr cerebellar hypoplasia. Journal of Human Genetics, 69:623-628, Jul 2024. URL: https://doi.org/10.1038/s10038-024-01279-w, doi:10.1038/s10038-024-01279-w. This article has 4 citations and is from a peer-reviewed journal.

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  11. (lossi2019thereelermouse pages 1-3): Laura Lossi, Claudia Castagna, Alberto Granato, and Adalberto Merighi. The reeler mouse: a translational model of human neurological conditions, or simply a good tool for better understanding neurodevelopment? Journal of Clinical Medicine, 8:2088, Dec 2019. URL: https://doi.org/10.3390/jcm8122088, doi:10.3390/jcm8122088. This article has 50 citations.

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