Mutations in WDR62, encoding a centrosome-associated
protein, cause microcephaly with simplified gyri and abnormal
cortical architecture.
Nature genetics
, 2010 Oct 3
WDR62 is associated with the spindle pole and is mutated
in human microcephaly.
Nature genetics
, 2010 Oct 3
Recessive mutations in the gene encoding the tight
junction protein occludin cause band-like calcification with
simplified gyration and polymicrogyria.
American journal of human
genetics
, 2010 Sep 10: 354-64
Identification of genomic loci contributing to agenesis of
the corpus callosum.
American journal of medical genetics. Part
A
, 2010 Sep: 2145-59
Molecular and neuroimaging findings in pontocerebellar
hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
American journal of medical genetics. Part
A
, 2010 Sep: 2268-76
Pontocerebellar hypoplasia type 6: A British case with
PEHO-like features.
American journal of medical genetics. Part
A
, 2010 Aug: 2079-84
SRD5A3 is required for converting polyprenol to dolichol
and is mutated in a congenital glycosylation disorder.
Cell
, 2010 Jul 23: 203-17
TUBA1A mutations cause wide spectrum lissencephaly (smooth
brain) and suggest that multiple neuronal migration pathways
converge on alpha tubulins.
Human molecular genetics
, 2010 Jul 15: 2817-27
Agenesis of the corpus callosum and congenital lymphedema:
A novel recognizable syndrome?
American journal of medical genetics. Part
A
, 2010 Jul: 1621-6
Clinical and brain imaging heterogeneity of severe
microcephaly.
Pediatric neurology
, 2010 Jul: 7-16
Chiari I malformation, delayed gross motor skills, severe
speech delay, and epileptiform discharges in a child with FOXP1
haploinsufficiency.
European journal of human genetics :
EJHG
, 2010 Jun 23
A novel missense mutation in LIS1 in a child with
subcortical band heterotopia and pachygyria inherited from his
mildly affected mother with somatic mosaicism.
Journal of child neurology
, 2010 Jun: 738-41
Unbalanced der(5)t(5;20) translocation associated with
megalencephaly, perisylvian polymicrogyria, polydactyly and
hydrocephalus.
American journal of medical genetics. Part
A
, 2010 Jun: 1488-97
Clinical and imaging heterogeneity of polymicrogyria: a
study of 328 patients.
Brain : a journal of neurology
, 2010 May: 1415-27
Microcephaly, sensorineural deafness and Currarino triad
with duplication-deletion of distal 7q.
European journal of pediatrics
, 2010 Apr: 475-81
A de novo 1p34.2 microdeletion identifies the synaptic
vesicle gene RIMS3 as a novel candidate for autism.
Journal of medical genetics
, 2010 Feb: 81-90
The clinical patterns and molecular genetics of
lissencephaly and subcortical band heterotopia.
Epilepsia
, 2010 Feb: 5-9
A developmental and genetic classification for
midbrain-hindbrain malformations.
Brain : a journal of neurology
, 2009 Dec: 3199-230
Copy number and sequence variants implicate APBA2 as an
autism candidate gene.
Autism research : official journal of the
International Society for Autism Research
, 2009 Dec: 359-64
FOXC1 is required for normal cerebellar development and is
a major contributor to chromosome 6p25.3 Dandy-Walker
malformation.
Nature genetics
, 2009 Sep: 1037-42
Intragenic deletions and duplications of the LIS1 and DCX
genes: a major disease-causing mechanism in lissencephaly and
subcortical band heterotopia.
European journal of human genetics :
EJHG
, 2009 Jul: 911-8
Significant overlap and possible identity of macrocephaly
capillary malformation and megalencephaly
polymicrogyria-polydactyly hydrocephalus syndromes.
American journal of medical genetics. Part
A
, 2009 May: 868-76
A novel SIX3 mutation segregates with holoprosencephaly in
a large family.
American journal of medical genetics. Part
A
, 2009 May: 919-25
Recessive developmental delay, small stature, microcephaly
and brain calcifications with locus on chromosome 2.
American journal of medical genetics. Part
A
, 2009 Feb: 129-37
Association and mutation analyses of 16p11.2 autism
candidate genes.
PloS one
, 2009: e4582
A novel mechanistic spectrum underlies glaucoma-associated
chromosome 6p25 copy number variation.
Human molecular genetics
, 2008 Nov 15: 3446-58
Ethnically diverse causes of Walker-Warburg syndrome
(WWS): FCMD mutations are a more common cause of WWS outside of
the Middle East.
Human mutation
, 2008 Nov: E231-41
Mutations of CASK cause an X-linked brain malformation
phenotype with microcephaly and hypoplasia of the brainstem and
cerebellum.
Nature genetics
, 2008 Sep: 1065-7
Mutations of CASK cause an X-linked brain malformation
phenotype with microcephaly and hypoplasia of the brainstem and
cerebellum.
Nature genetics
, 2008 Aug 10
RPGRIP1L mutations are mainly associated with the
cerebello-renal phenotype of Joubert syndrome-related
disorders.
Clinical genetics
, 2008 Aug: 164-70
Mutations in the cilia gene ARL13B lead to the classical
form of Joubert syndrome.
American journal of human
genetics
, 2008 Aug: 170-9
Consistent chromosome abnormalities identify novel
polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1,
6q26-q27, and 21q2.
American journal of medical genetics. Part
A
, 2008 Jul 1: 1637-54
Novel submicroscopic chromosomal abnormalities detected in
autism spectrum disorder.
Biological psychiatry
, 2008 Jun 15: 1111-7
No major role for the EMX2 gene in schizencephaly.
American journal of medical genetics. Part
A
, 2008 May 1: 1142-50
Linkage to chromosome 2q36.1 in autosomal dominant
Dandy-Walker malformation with occipital cephalocele and evidence
for genetic heterogeneity.
Human genetics
, 2008 Apr: 237-45
Abnormal development of the human cerebral cortex:
genetics, functional consequences and treatment options.
Trends in neurosciences
, 2008 Mar: 154-62
Recurrent 16p11.2 microdeletions in autism.
Human molecular genetics
, 2008 Feb 15: 628-38
Impaired glycosylation and cutis laxa caused by mutations
in the vesicular H+-ATPase subunit ATP6V0A2.
Nature genetics
, 2008 Jan: 32-4
Malformations of cortical development and
epilepsy.
Dialogues in clinical
neuroscience
, 2008: 47-62
Neuroimaging findings in macrocephaly-capillary
malformation: a longitudinal study of 17 patients.
American journal of medical genetics. Part
A
, 2007 Dec 15: 2981-3008
Brain anomalies in encephalocraniocutaneous
lipomatosis.
American journal of medical genetics. Part
A
, 2007 Dec 15: 2963-72
A developmental classification of malformations of the
brainstem.
Annals of neurology
, 2007 Dec: 625-39
Mapping of deletion and translocation breakpoints in 1q44
implicates the serine/threonine kinase AKT3 in postnatal
microcephaly and agenesis of the corpus callosum.
American journal of human
genetics
, 2007 Aug: 292-303
Identification of a novel recessive RELN mutation using a
homozygous balanced reciprocal translocation.
American journal of medical genetics. Part
A
, 2007 May 1: 939-44
Truncation of NHEJ1 in a patient with
polymicrogyria.
Human mutation
, 2007 Apr: 356-64
The phenotypic spectrum of rapid-onset
dystonia-parkinsonism (RDP) and mutations in the ATP1A3
gene.
Brain : a journal of neurology
, 2007 Mar: 828-35
Polymicrogyria and deletion 22q11.2 syndrome: window to
the etiology of a common cortical malformation.
American journal of medical genetics. Part
A
, 2006 Nov 15: 2416-25
Flores hominid: new species or microcephalic
dwarf?
The anatomical record. Part A, Discoveries in
molecular, cellular, and evolutionary biology
, 2006 Nov: 1123-45
The pattern of inheritance of X-linked traits is not
dominant or recessive, just X-linked.
Acta paediatrica (Oslo, Norway : 1992).
Supplement
, 2006 Apr: 11-5
AHI1 gene mutations cause specific forms of Joubert
syndrome-related disorders.
Annals of neurology
, 2006 Mar: 527-34
Carriers and patients with muscle-eye-brain disease can be
rapidly diagnosed by enzymatic analysis of fibroblasts and
lymphoblasts.
Neuromuscular disorders : NMD
, 2006 Feb: 132-6
Periventricular nodular heterotopia with overlying
polymicrogyria.
Brain : a journal of neurology
, 2005 Dec: 2811-21
Genotype-phenotype analysis of human frontoparietal
polymicrogyria syndromes.
Annals of neurology
, 2005 Nov: 680-7
Genotypically defined lissencephalies show distinct
pathologies.
Journal of neuropathology and experimental
neurology
, 2005 Oct: 847-57
Genetic links between brain development and brain
evolution.
Nature reviews. Genetics
, 2005 Jul: 581-90
X-linked lissencephaly with abnormal genitalia as a
tangential migration disorder causing intractable epilepsy:
proposal for a new term,
"interneuronopathy".
Journal of child neurology
, 2005 Apr: 392-7
Mutations of the catalytic subunit of RAB3GAP cause
Warburg Micro syndrome.
Nature genetics
, 2005 Mar: 221-3
Mutations in POMT1 are found in a minority of patients
with Walker-Warburg syndrome.
American journal of medical genetics. Part
A
, 2005 Feb 15: 53-7
Heterozygous deletion of the linked genes ZIC1 and ZIC4 is
involved in Dandy-Walker malformation.
Nature genetics
, 2004 Oct: 1053-5
Inheritance of most X-linked traits is not dominant or
recessive, just X-linked.
American journal of medical genetics. Part
A
, 2004 Aug 30: 136-43
MICRO syndrome: an entity distinct from COFS
syndrome.
American journal of medical genetics. Part
A
, 2004 Jul 30: 235-45
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are
associated with rapid-onset dystonia parkinsonism.
Neuron
, 2004 Jul 22: 169-75
The NPHP1 gene deletion associated with juvenile
nephronophthisis is present in a subset of individuals with
Joubert syndrome.
American journal of human
genetics
, 2004 Jul: 82-91
Refined linkage to the RDP/DYT12 locus on 19q13.2 and
evaluation of GRIK5 as a candidate gene.
Movement disorders : official journal of the
Movement Disorder Society
, 2004 Jul: 845-7
G protein-coupled receptor-dependent development of human
frontal cortex.
Science (New York, N.Y.)
, 2004 Mar 26: 2033-6
Microcephaly, jejunal atresia, aberrant right bronchus,
ocular anomalies, and XY sex reversal.
American journal of medical genetics. Part
A
, 2004 Mar 15: 293-8
Molar tooth sign of the midbrain-hindbrain junction:
occurrence in multiple distinct syndromes.
American journal of medical genetics. Part
A
, 2004 Mar 1: 125-34; discussion 117
Septo-optic dysplasia and amniotic bands: further evidence
for a vascular pathogenesis.
American journal of medical genetics. Part
A
, 2004 Feb 15: 12-6
Mutations of ARX are associated with striking pleiotropy
and consistent genotype-phenotype correlation.
Human mutation
, 2004 Feb: 147-59
New syndrome: focal dermal hypoplasia, morning glory
anomaly, and polymicrogyria.
American journal of medical genetics. Part
A
, 2004 Jan 15: 202-8
Hereditary hyperekplexia caused by novel mutations of
GLRA1 in Turkish families.
Molecular diagnosis : a journal devoted to the
understanding of human disease through the clinical application
of molecular biology
, 2004: 151-5
Human malformations of the midbrain and hindbrain: review
and proposed classification scheme.
Molecular genetics and
metabolism
, 2003 Sep-Oct: 36-53
Reciprocal fusion transcripts of two novel Zn-finger genes
in a female with absence of the corpus callosum, ocular colobomas
and a balanced translocation between chromosomes 2p24 and
9q32.
European journal of human genetics :
EJHG
, 2003 Jul: 527-34
Nonsyndromic mental retardation and cryptogenic epilepsy
in women with doublecortin gene mutations.
Annals of neurology
, 2003 Jul: 30-7
Bilateral frontoparietal polymicrogyria: clinical and
radiological features in 10 families with linkage to chromosome
16.
Annals of neurology
, 2003 May: 596-606
Refinement of a 400-kb critical region allows genotypic
differentiation between isolated lissencephaly, Miller-Dieker
syndrome, and other phenotypes secondary to deletions of
17p13.3.
American journal of human
genetics
, 2003 Apr: 918-30
Lissencephaly and the molecular basis of neuronal
migration.
Human molecular genetics
, 2003 Apr 1: R89-96
Mutations in the O-mannosyltransferase gene POMT1 give
rise to the severe neuronal migration disorder Walker-Warburg
syndrome.
American journal of human
genetics
, 2002 Nov: 1033-43
Primary microcephaly: new approaches for an old
disorder.
American journal of medical
genetics
, 2002 Nov 1: 315-7
Mutation of ARX causes abnormal development of forebrain
and testes in mice and X-linked lissencephaly with abnormal
genitalia in humans.
Nature genetics
, 2002 Nov: 359-69
Subcortical band heterotopia (SBH) in males: clinical,
imaging and genetic findings in comparison with females.
Brain : a journal of neurology
, 2002 Nov: 2507-22
A locus for bilateral perisylvian polymicrogyria maps to
Xq28.
American journal of human
genetics
, 2002 Apr: 1003-8
Clinical and molecular basis of classical lissencephaly:
Mutations in the LIS1 gene (PAFAH1B1).
Human mutation
, 2002 Jan: 4-15