1.
Association between Zika virus infection and microcephaly in Brazil, January to May, 2016: preliminary report of a case-control study
by de Araújo, Thalia Velho Barreto, Dr
The Lancet infectious diseases, 2016, Vol.16 (12), p.1356-1363
2.
Congenital Zika virus syndrome in Brazil: a case series of the first 1501 livebirths with complete investigation
by França, Giovanny V A, PhD
The Lancet (British edition), 2016, Vol.388 (10047), p.891-897
3.
Pathology of congenital Zika syndrome in Brazil: a case series
by Martines, Roosecelis Brasil, MD
The Lancet (British edition), 2016, Vol.388 (10047), p.898-904
4.
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes
by Reijnders, Margot R.F
American journal of human genetics, 2017-09-07, Vol.101 (3), p.466-477
5.
Infectious causes of microcephaly: epidemiology, pathogenesis, diagnosis, and management
by Devakumar, Delan
The Lancet infectious diseases, 2018-01, Vol.18 (1), p.e1-e13
6.
Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy
by Ruzzo, Elizabeth K
Neuron (Cambridge, Mass.), 2013-10-16, Vol.80 (2), p.429-441
7.
The Diverse Genetic Landscape of Neurodevelopmental Disorders
by Hu, Wen F
Annual review of genomics and human genetics, 2014-08-31, Vol.15 (1), p.195-213
8.
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development
by Ivanova, Ekaterina L
American journal of human genetics, 2017-09-07, Vol.101 (3), p.428-440
9.
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons
by Harding, Brian N
American journal of human genetics, 2016-08-04, Vol.99 (2), p.511-520
10.
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia
by Marin-Valencia, Isaac
American journal of human genetics, 2017-09-07, Vol.101 (3), p.441-450
11.
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly
by Li, Hongda
American journal of human genetics, 2016-08-04, Vol.99 (2), p.501-510
12.
Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures
by Zhang, Xiaochang
American journal of human genetics, 2014-04-03, Vol.94 (4), p.547-558
13.
Neuropathology of Mowat–Wilson Syndrome
by Conces, Miriam R.
Pediatric and developmental pathology, 2020-08, Vol.23 (4), p.322-325
14.
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes
by Waters, Aoife M
Journal of medical genetics, 2015-03, Vol.52 (3), p.147-156
15.
Dual-Mode Modulation of Smad Signaling by Smad-Interacting Protein Sip1 Is Required for Myelination in the Central Nervous System
by Weng, Qinjie
Neuron (Cambridge, Mass.), 2012-02-23, Vol.73 (4), p.713-728
16.
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy
by Muona, Mikko
American journal of human genetics, 2016-09-01, Vol.99 (3), p.683-694
17.
Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors
by Mishra-Gorur, Ketu
Neuron (Cambridge, Mass.), 2014-12-17, Vol.84 (6), p.1226-1239
18.
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway
by Enns, Gregory M
Genetics in medicine, 2014-10, Vol.16 (10), p.751-758
19.
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
by Hannes, F D
Journal of medical genetics, 2009-04, Vol.46 (4), p.223-232
20.
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination
by Nakayama, Tojo
American journal of human genetics, 2015-05-07, Vol.96 (5), p.709-719
