Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation.

[1]  H. Williams,et al.  A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia , 2021, medRxiv.

[2]  Leighton H. Duncan,et al.  Human neural organoids: Models for developmental neurobiology and disease. , 2021, Developmental biology.

[3]  G. Seelig,et al.  Spatial and cell-type transcriptional landscape of human cerebellar development , 2021, Nature Neuroscience.

[4]  Venkatraman Thulasi,et al.  Possible contribution of cerebellar disinhibition in epilepsy , 2021, Epilepsy & Behavior.

[5]  M. Srour,et al.  Diagnostic Approach to Cerebellar Hypoplasia , 2021, The Cerebellum.

[6]  J. Füllekrug,et al.  Deficiency of acyl‐CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset , 2020, Clinical genetics.

[7]  Hannah A. Pliner,et al.  A human cell atlas of fetal gene expression , 2020, Science.

[8]  Raphael Gottardo,et al.  Integrated analysis of multimodal single-cell data , 2020, Cell.

[9]  A. Munnich,et al.  MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia , 2020, Nature Communications.

[10]  E. Boltshauser,et al.  Pontocerebellar Hypoplasia: a Pattern Recognition Approach , 2020, The Cerebellum.

[11]  S. Ellard,et al.  Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd. , 2020, European journal of medical genetics.

[12]  K. Kawakami,et al.  Gsx2 is required for specification of neurons in the inferior olivary nuclei from Ptf1a-expressing neural progenitors in zebrafish. , 2020, Development.

[13]  Heike Wollmann,et al.  PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly , 2020, Science Advances.

[14]  A. McKenna,et al.  Emergence of Neuronal Diversity during Vertebrate Brain Development , 2019, Neuron.

[15]  P. Hof,et al.  Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum , 2019, Science.

[16]  T. Rosenberg,et al.  Human Mutation , 2019 .

[17]  K. Millen,et al.  What cerebellar malformations tell us about cerebellar development , 2019, Neuroscience Letters.

[18]  W. Dobyns,et al.  Rhombencephalosynapsis: Fused cerebellum, confused geneticists , 2018, American journal of medical genetics. Part C, Seminars in medical genetics.

[19]  Qiuxia Guo,et al.  Specification of diverse cell types during early neurogenesis of the mouse cerebellum , 2018, bioRxiv.

[20]  F. Baas,et al.  What’s new in pontocerebellar hypoplasia? An update on genes and subtypes , 2018, Orphanet Journal of Rare Diseases.

[21]  A. Munnich,et al.  De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene , 2018, Brain : a journal of neurology.

[22]  Paul Hoffman,et al.  Integrating single-cell transcriptomic data across different conditions, technologies, and species , 2018, Nature Biotechnology.

[23]  J. Sahel,et al.  A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype , 2017, Human molecular genetics.

[24]  R. Vink,et al.  Abnormalities in substance P neurokinin-1 receptor binding in key brainstem nuclei in sudden infant death syndrome related to prematurity and sex , 2017, PloS one.

[25]  F. Baas,et al.  Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. , 2017, American journal of human genetics.

[26]  Joshua C. Chang,et al.  Repression by PRDM13 is critical for generating precision in neuronal identity , 2017, eLife.

[27]  M. Hibi,et al.  Evolutionary mechanisms that generate morphology and neural‐circuit diversity of the cerebellum , 2017, Development, growth & differentiation.

[28]  K. Aldinger,et al.  The genetics of cerebellar malformations. , 2016, Seminars in fetal & neonatal medicine.

[29]  V. Chizhikov,et al.  Loss of Ptf1a Leads to a Widespread Cell-Fate Misspecification in the Brainstem, Affecting the Development of Somatosensory and Viscerosensory Nuclei , 2016, The Journal of Neuroscience.

[30]  M. Nothnagel,et al.  Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing , 2016, PloS one.

[31]  Zachary J C Tobias,et al.  Mapping the development of cerebellar Purkinje cells in zebrafish , 2015, Developmental neurobiology.

[32]  D. Valle,et al.  GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene , 2015, Human mutation.

[33]  Y. Sugita,et al.  Prdm13 Regulates Subtype Specification of Retinal Amacrine Interneurons and Modulates Visual Sensitivity , 2015, The Journal of Neuroscience.

[34]  A. Poretti,et al.  Cerebellar hypoplasia: Differential diagnosis and diagnostic approach , 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

[35]  K. Millen,et al.  Transformation of the cerebellum into more ventral brainstem fates causes cerebellar agenesis in the absence of Ptf1a function , 2014, Proceedings of the National Academy of Sciences.

[36]  M. C. Jørgensen,et al.  The Prdm13 histone methyltransferase encoding gene is a Ptf1a-Rbpj downstream target that suppresses glutamatergic and promotes GABAergic neuronal fate in the dorsal neural tube. , 2014, Developmental biology.

[37]  S. Gabriel,et al.  AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder , 2013, Cell.

[38]  Joshua C. Chang,et al.  Prdm13 mediates the balance of inhibitory and excitatory neurons in somatosensory circuits. , 2013, Developmental cell.

[39]  Steven A. Harvey,et al.  A systematic genome-wide analysis of zebrafish protein-coding gene function , 2013, Nature.

[40]  Athar N. Malik,et al.  CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development , 2012, Nature Genetics.

[41]  M. Greenberg,et al.  Bhlhb5 and Prdm8 Form a Repressor Complex Involved in Neuronal Circuit Assembly , 2012, Neuron.

[42]  Ethan K. Scott,et al.  Proneural gene-linked neurogenesis in zebrafish cerebellum. , 2010, Developmental biology.

[43]  C. Sotelo,et al.  Intrinsic versus extrinsic determinants during the development of Purkinje cell dendrites , 2009, Neuroscience.

[44]  A. Lavezzi,et al.  Neuropathology of the Guillain-Mollaret Triangle (Dentato-Rubro-Olivary Network) in Sudden Unexplained Perinatal Death and SIDS , 2009, The open neurology journal.

[45]  Mami Terao,et al.  Origin of Climbing Fiber Neurons and Their Developmental Dependence on Ptf1a , 2007, The Journal of Neuroscience.

[46]  F. Real,et al.  Cerebellar GABAergic progenitors adopt an external granule cell-like phenotype in the absence of Ptf1a transcription factor expression , 2007, Proceedings of the National Academy of Sciences.

[47]  Takashi Fujikado,et al.  Ptf1a determines horizontal and amacrine cell fates during mouse retinal development , 2006, Development.

[48]  C. Wright,et al.  Ptf1a determines GABAergic over glutamatergic neuronal cell fate in the spinal cord dorsal horn , 2005, Development.

[49]  Masahiko Watanabe,et al.  Ptf1a, a bHLH Transcriptional Gene, Defines GABAergic Neuronal Fates in Cerebellum , 2005, Neuron.

[50]  A. Hattersley,et al.  Mutations in PTF1A cause pancreatic and cerebellar agenesis , 2004, Nature Genetics.

[51]  R. Harper Sudden Infant Death Syndrome: A Failure of Compensatory Cerebellar Mechanisms? , 2000, Pediatric Research.

[52]  Peter G. Barth,et al.  Pontocerebellar hypoplasias An overview of a group of inherited neurodegenerative disorders with fetal onset , 1993, Brain and Development.

[53]  P E Wright,et al.  Three-dimensional solution structure of a single zinc finger DNA-binding domain. , 1989, Science.

[54]  Adam P. DeLuca,et al.  North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13. , 2016, Ophthalmology.

[55]  B. Thisse,et al.  In situ hybridization on whole-mount zebrafish embryos and young larvae. , 2014, Methods in molecular biology.