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Author Details

Jennifer N Partlow
Boston Children's Hospital
2008
33
24
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37344571BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.Eur J Hum Genet2023
32103185Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.Genet Med2020
32097629Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5.Neuron2020
30214071Genomic and phenotypic delineation of congenital microcephaly.Genet Med2019
31668703Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.Am J Hum Genet2019
29652087Expanding the clinical spectrum of biallelic ZNF335 variants.Clin Genet2018
30146301Sodium Channel SCN3A (Na<sub>V</sub>1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development.Neuron2018
30421579PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.Am J Med Genet B Neuropsychiatr Genet2018
28630177Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndrome.Genome Res2017
28254648Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.Eur J Med Genet2017
28190459Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.Am J Hum Genet2017
28493438Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.Hum Mutat2017
27830782Evolution of Osteocrin as an activity-regulated factor in the primate brain.Nature2016
27601654Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.Proc Natl Acad Sci U S A2016
25832664Loss of PCLO function underlies pontocerebellar hypoplasia type III.Neurology2015
26297806Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication.Elife2015
25865492Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.Am J Hum Genet2015
24501276METTL23, a transcriptional partner of GABPA, is essential for human cognition.Hum Mol Genet2014
25521379Katanin p80 regulates human cortical development by limiting centriole and cilia number.Neuron2014
25140959Somatic mutations in cerebral cortical malformations.N Engl J Med2014
24656866Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.Am J Hum Genet2014
23352163Using whole-exome sequencing to identify inherited causes of autism.Neuron2013
24596948SLC25A22 is a novel gene for migrating partial seizures in infancy.Ann Neurol2013
24078737Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.Neurology2013
22958903Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.Am J Hum Genet2012
23023333CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.Nat Genet2012
21529751Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].Am J Hum Genet2011
19751967The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.Brain Dev2010
21109224A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.Am J Hum Genet2010
20949537Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.Am J Med Genet A2010
20437587Developmental and degenerative features in a complicated spastic paraplegia.Ann Neurol2010
18621663Identifying autism loci and genes by tracing recent shared ancestry.Science2008
18752264Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.Hum Mutat2008
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Collaborators

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College of Medicine and Health Sciences, United Arab Emirates University
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Harvard Medical School
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Human Genetics and Genome Research Institute, National Research Centre
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University of California
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Institute of Neurology, University College London (UCL)
Co-authored papers 2
The University of Jordan
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Albert Szent-Gyorgyi Medical School, University of Szeged
Co-authored papers 2
University of North Carolina at Chapel Hill.
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