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List of works by Jennifer N Partlow

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

scientific article

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

scientific article published on 30 September 2012

Developmental and degenerative features in a complicated spastic paraplegia.

scientific article

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]

scientific article

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

scientific article published on 19 June 2017

Katanin p80 regulates human cortical development by limiting centriole and cilia number

scientific article published on December 2014

Loss of PCLO function underlies pontocerebellar hypoplasia type III

scientific article

METTL23, a transcriptional partner of GABPA, is essential for human cognition

scientific article

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

scientific article

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

scientific article published on 13 November 2018

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

scientific article published on 27 February 2020

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