Publications

2025 

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Differentiation latency and dormancy signatures define fetal liver hematopoietic stem cells at single-cell resolution.

Ishida T, et al. Cell Rep. 2025 Sep 18;44(10):116289. doi: 10.1016/j.celrep.2025.116289. PMID: 40971295

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A clinical and genotype-phenotype analysis of MACF1 variants.

Dekker J, Schot R, Aldinger KA, et al. Am J Hum Genet. 2025 Oct 2;112(10):2363-2380. doi: 10.1016/j.ajhg.2025.08.010. PMID: 40925378

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Further delineation of the AUTS2 HX repeat domain-related phenotype.

Erdogan EN, Cheng CV, Caraffi SG, Ivanovski I, Piatelli G, Errichiello E, Papavasiliou AS, Vasileiou G, Reis A, Prince B, Hickey SE, Koboldt DC, Schneider MC, Porrmann J, Di Donato N, Leis T, Perry MS, Humberson J, Rotenberg J, Bakhtiari S, Magee H, Kheradmand S, Kruer MC, Swale A, Weber A, Landes C, Zuffardi O, Garavelli L, van Haeringen A, Ruivenkamp CAL, Pauly M, Au PYB, Dobyns WB, Aldinger KA. Am J Med Genet A. 2025 May 3:e64093. doi: 10.1002/ajmg.a.64093. PMID: 40317680

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Mapping the developmental profile of ventricular zone-derived neurons in the human cerebellum.

Erickson AW, Tan H, Hendrikse LD, Millman J, Thomson Z, Golser J, Khan O, He G, Bach K, Mishra AS, Kopic J, Krsnik Z, Encha-Razavi P, Petrilli G, Guimiot F, Silvestri E, Aldinger KA, Taylor MD, Millen KJ, Haldipur P. Proc Natl Acad Sci U S A. 2025 Apr 29;122(17):e2415425122. doi: 10.1073/pnas.2415425122. PMID: 40249772

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2024 

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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

Peron A, D'Arco F, Aldinger KA, et al. Eur J Hum Genet. 2025 Mar;33(3):312-324. doi: 10.1038/s41431-024-01701-z. Epub 2024 Oct 24. PMID: 39448799

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Risk of meningomyelocele mediated by the common 22q11.2 deletion.

Vong KI, et al. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. PMID: 38696583

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2023                                   

 

Dandy-Walker phenotype with brainstem involvement: 2 distinct subgroups with different prognosis.

Alves CAPF, et al. AJNR Am J Neuroradiol. 2023 Oct;44(10):1201-1207. doi: 10.3174/ajnr.A7967. Epub 2023 Aug 17. PMID: 37591769​

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Macrocephaly and developmental delay caused by missense variants in RAB5C. 

Koop K, et al. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. PMID: 37552066

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Generation of advanced cerebellar organoids for neurogenesis and neuronal network development. 

Chen Y, Bury L, Chen F, Aldinger KA, Miranda HC, Wynshaw-Boris A. Hum Mol Genet 2023 Jun 30:ddad110. doi: 10.1093/hmg/ddad110. PMID: 377387247

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2022                                    

 

Structure, function, and genetics of the cerebellum in autism. 

Sydnor LM, Aldinger KA. J Psychiatr Brain Sci. 2022;7:e220008. doi: 10.20900/jpbs.20220008. Epub 2022 Oct 25. PMID: 36425354

 

Refining the neuroimaging definition of the Dandy-Walker phenotype.

Whitehead MT, et al. AJNR Am J Neuroradiol. 2022 Oct;43(10):1488-1493. doi: 10.3174/ajnr.A7659. Epub 2022 Sep 22. PMID: 36137655

 

Unified rhombic lip origins of group 3 and group 4 medulloblastoma. 

Smith KS, et al. Nature. 2022 Sep;609(7929):1012-1020. doi: 10.1038/s42586-022-05208-9. Epub 2022 Sep 21. PMID: 36131015

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Failure of human rhombic lip differentiation underlies medulloblastoma formation. 

Hendrikse LD, et al. Nature. 2022 Sep;609(7929):1021-1028. doi: 10.1038/s441586-022-05215-w. Epub 2022 Sep 21. PMID: 36131014

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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies wiht evidence for primary cilia-dependent defects in Hedgehog signaling.

Holtz AM, et al. Genet Med. 2022 Oct;24(10):2065-2078. doi: 10.1016/j.gim.2022.07.005. Epub 2022 Aug 18. PMID: 35980381

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Medulloblastoma group 3 and 4 tumors comprise a clinically and biologically significant expression continuum reflecting human cerebellar development.

Williamson D, et al. Cell Rep. 2022 Aug 2;40(5):111162. doi: 10.1016/j.celrep.2022.111162. PMID: 35926460

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Human cerebellar development and transcriptomics: implications for neurodevelopmental disorders. 

Haldipur P, Millen KJ, Aldinger KA. Annu Rev Neurosci. 2022 Jul 8;45:515-531. doi: 10.1146/annurev-neuro-111020-091953. Epub 2022 Apr 19. PMID: 35440142

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ACTA2-related dysgyria: an under-recognized malformation of cortical development. 

Subramanian S, et al. AJNR Am J Neuroradiol. 2022 Jan;43(1):146-150. doi: 10.3174/ajnr.A7364. Epub 2021 Dec 2. PMID: 34857515

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2021                         

 

NRF1 association with AUTS2-polycomb mediates specific gene activation in the brain.

Liu S, Aldinger KA, et al. Mol Cell. 2021 Nov 18;81(22):4663-4676.e8. doi: 10.1016/j.molcel.2021.09.020. PMID: 34637754

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Evidence of disrupted rhombic lip development in the pathogenesis of Dandy-Walker malformation. 

Haldipur P, Bernardo S, Aldinger KA, et al. Acta Neuropathol. 2021 Oct;142(4):761-776. doi: 10.1007/s00401-021-02355-7. Epub 2021 Aug 4.  PMID: 34347142

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Spatial and cell type transcriptional landscape of human cerebellar development.

Aldinger KA*, Thomson Z, et al. Nat Neurosci. 2021 Aug;24(8):1163-1175. doi: 10.1038/s41593-021-00872-y. Epub 2021 Jun 17. *corresponding author   PMID: 34140698  UCSC Cell Browser

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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.

Jeanne M, et al. Am J Hum Genet. 2021 May 6;108(5):951-961. doi: 10.1016/j.ajhg.2021.04.004. Epub 2021 Apr 23. PMID: 33894126

 

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. 

Harris HK, et al. Genet Med. 2021 Jun;23(6):1028-1040. doi: 10.1038/s41436-021-01114-z. Epub 2021 Mar 3. PMID: 33658631

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DLG4-related synaptopathy: a new rare brain disorder. 

Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, et al. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. PMID: 33597769

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The spectrum of brain malformations and disruptions in twins. 

Park KB, Chapman T, Aldinger KA, et al. Am J Med Genet A. 2021 Sep;185(9):2690-2718. doi: 10.1002/ajmg.a.61972. Epub 2020 Nov 18. PMID: 33205886

 

2020                           

 

A human cell atlas of fetal gene expression.

Cao J, et al. Science. 2020 Nov 13;370(6518):eaba7721. doi: 10.1126/science.aba7721. PMID: 33184181

Gene expression atlas     UCSC Cell Browser

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A human cell atlas of fetal chromatin accessibility. 

Domcke S, et al. Science. 2020 Nov 13;370(6518):eaba7612. doi: 10.1126/science.aba7612. PMID: 33184180

Chromatin atlas     UCSC Cell Browser

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Genotype-phenotype correlation at codon 1740 of SETD2.

Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, et al. Am J Med Genet A. 2020 Sep;182(9):2037-2048. doi: 10.1002/ajmg.a.61724 Epub 2020 Jul 24. PMID: 32710489

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Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain.

Aldinger KA*, et al. Sci Data. 2020 Jun 19;7(1):192. doi: 10.1038/s41597-020-0527-2. *corresponding author 

PMID: 32561870     GEO

 

Whole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortex.

Werling DM, et al. Cell Rep. 2020 Apr 7;31(1):107489. doi: 10.1016/j.celrep.2020.03.053. PMID: 32268104

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Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development.

Lennox AL, et al. Neuron. 2020 May 6;106(3):404-420.e8. doi: 10.1016/j.neuron.2020.01.042. Epub 2020 Mar 4. PMID: 32135084

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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Mirzaa GM, et al. Genet Med. 2020 Mar;22(3):538-546. doi: 10.1038/s41436-019-0693-9. Epub 2019 Nov 14. PMID: 31723249

 

2019                                   

 

SETD2 related overgrowth syndrome: presentation of four new patients and review of the literature.

Marzin P, Rondeau S, Aldinger KA, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):509-518. doi: 10.1002/ajmg.c.31746. Epub 2019 Oct 23. PMID: 31643139

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Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum.

Haldipur P, Aldinger KA, et al. Science. 2019 Oct 25;366(6464):454-460. doi: 10.1126/science.aax7526. Epub 2019 Oct 17. PMID: 31624095

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Redefining the etiologic landscape of cerebellar malformations.

Aldinger KA, et al. Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29. PMID: 31474318

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De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia. 

Kanca O, et al. Am J Hum Genet. 2019 Aug 1;105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18. PMID: 31327508

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2018                                  

 

Rhombencephalosynapsis: Fused cerebellum, confused geneticists.

Aldinger KA, et al. Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):432-439. doi: 10.1002/ajmg.c.31666. PMID: 30580482

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Integrative functional genomic analysis of human brain development and neuropsychiatric risks.

Li M, et al. Science. 2018 Dec 14;362(6420):eaat7615. doi: 10.1126/science.aat7615. PMID: 30545854

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MACF1 mutations encoding highly conserved zinc-binding residues of the GAR domain cause defects in neuronal migration and axon guidance.

Dobyns WB, Aldinger KA, et al. Am J Hum Genet. 2018 Dec 6;103(6):1009-1021. doi: 10.1016/j.ajhg.2018.10.019. Epub 2018 Nov 21. PMID: 30471716

 

Mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations. 

​Tripathy R, et al. Neuron. 2018 Dec 19;100(6):1354-1368.e5. doi: 10.1016/j.neuron.2018.10.044. Epub 2018 Nov 15. PMID: 30449657

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2017                                  

 

Phenotypic outcomes in mouse and human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms. 

Haldipur P, Dang D, Aldinger KA, et al. Elife. 2017 Jan 16;6:e20898. doi: 10.7554/eLife.20898. PMID: 28092268

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2016                          

 

Pleiotrophic mechanisms indicated for sex differences in autism.

Mitra I, et al. PLoS Genet. 2016 Nov 15;12(11):e1006425. doi: 10.1371/journal.pgen.1006425. eCollection 2016 Nov. PMID: 27846226

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The genetics of cerebellar malformations.

Aldinger KA, Doherty D. Semin Fetal Neonatal Med. 2016 Oct;21(5):321-32. doi: 10.1016/j.siny.2016.04.008. Epub 2016 May 7. PMID: 27160001

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A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. 

Gripp KW, Aldinger KA, et al. Am J Med Genet A. 2016 Sep;170(9):2237-47. doi: 10.1002/ajmg.a.37781. Epub 2016 Jun 5. PMID: 27264673

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Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.

Aldinger KA, et al. J Med Genet. 2016 Jun;53(6):427-30. doi: 10.1136/jmedgenet-2015-103476. Epub 2015 Dec 15. PMID: 26671912

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2015                          

 

Patterns of risk for multiple co-occurring medical conditions replicate across distinct cohorts of children with autism spectrum disorder.

Aldinger KA, Lane CJ, Veenstra-VanderWeele J, Levitt P. Autism Res. 2015 Dec;8(6):771-781. doi: 10.1002/aur.1492. Epub 2015 May 24. PMID: 26011086

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2014                                    

 

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.

Aldinger KA, et al. Am J Hum Genet. 2014 Aug 7;95(2):227-34. doi: 10.1016/j.ajhg.2014.07.007. PMID: 25105227

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2013                                   

 

Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome. 

Plummer JT, Evgrafov OV, Bergman MY, Friez M, Haiman CA, Levitt P, Aldinger KA*. Transl Psychiatry. 2013 Oct 22;3(10):e316. doi: 10.1038/tp.2013.91. *corresponding author  PMID: 24150225

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Comparative DNA methylation among females with neurodevelopmental disorders and seizures identifies TAC1 as a MeCP2 target gene.

Aldinger KA, Plummer JT, Levitt P. J Neurodev Disord. 2013 Jun 11;5(1):15. doi: 10.1186/1866-1955-5-15. PMID: 23759142  GEO

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Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.

Darbro BW, et al. Hum Mutat. 2013 Aug;34(8):1075-1079. doi: 10.1002/humu.22351. Epub 2013 May 28. PMID: 23674478

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Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.

Aldinger KA, et al. Am J Med Genet A. 2013 Jan;161A(1):131-136. doi: 10.1002/ajmg.a.35700. Epub 2012 Dec 7. PMID: 23225497

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2012                                   

 

Modeling of autism genetic variations in mice: focusing on synaptic and microcircuit dysfunctions. 

Qiu S, Aldinger KA, Levitt P. Dev Neurosci 2012;34(2-3):88-100. doi: 10.1159/000336644. Epub 2012 May 8. PMID: 22572629

 

​Consensus paper: pathological role of the cerebellum in autism.

Fatemi SH, Aldinger KA, et al. Cerebellum. 2012 Sep;11(3):777-807. doi: 10.1007/s12311-012-0355-9. PMID: 22370873

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2011                                   

 

SnapShot: genetics of autism.

Aldinger KA, Plummer JT, Qiu S, Levitt P. Neuron. 2011 Oct 20;72(2):418-418.e1. doi: 10.1016/j.neuron.2011.10.007. PMID: 22017998

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2009                                      

 

Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain.

Aldinger KA, Elsen GE, Prince VE, Millen KJ. Semin Pediatr Neurol. 2009 Sep;16(3):155-63. doi: 10.1016/j.spen.2009.06.003. PMID: 19778712

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FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.

Aldinger KA, et al. Nat Genet. 2009 Sep;41(9):1037-42. doi: 10.1038/ng.422. Epub 2009 Aug 9. PMID: 19668217

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Genetic variation and population substructure in outbred CD-1 mice: implications for genome-wide association studies.

Aldinger KA, et al. PLoS One. 2009;4(3):e4729. doi: 10.1371/journal.pone.0004729. Epub 2009 Mar 6. PMID: 19266100

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Population genetic study of the brain-derived neurotrophic factor (BDNF) gene.

Petryshen TL, Sabeti PC, Aldinger KA, et al. Mol Psychiatry. 2010 Aug;15(8):810-815. doi: 10.1038/mp.2009.24. Epub 2009 Mar 3. PMID: 19255578

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Association and mutation analyses of 16p11.2 autism candidate genes.

Kumar RA, et al. PLoS One. 2009;4(2):e4582. doi: 10.1371/journal.pone.0004582. Epub 2009 Feb 26. PMID: 19242545

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2008     

 

Ptf1a is a molecular determinant for both glutamatergic and GABAergic neurons in the hindbrain.

Aldinger KA, Elsen GE. J Neurosci. 2008 Jan 9;28(2):338-9. doi: 10.1523/JNEUROSCI.5139-07.2008. PMID: 18184775

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2005     

 

Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia.

Petryshen TL, et al. Mol Psychiatry. 2005 Dec;10(12):1074-88, 1057. doi: 10.1038/sj.mp.4001739. PMID: 16172613

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Support for involvement of neuregulin 1 in schizophrenia pathophysiology.

Petryshen TL, Middleton FA, Kirby A, Aldinger KA, et al. Mol Psychiatry. 2005 Apr;10(4):366-74. doi: 10.1038/sj.mp.4001608. PMID: 15545978