Search details
1.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
; 146(6): 2285-2297, 2023 06 01.
Article
in English
| MEDLINE | ID: mdl-36477332
2.
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Am J Med Genet A
; 191(7): 1935-1941, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37031378
3.
Cochlear Implantation: Systematic Approach to Preoperative Radiologic Evaluation.
Radiographics
; 43(4): e220102, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36893052
4.
Fetal macrocephaly: Pathophysiology, prenatal diagnosis and management.
Prenat Diagn
; 43(13): 1650-1661, 2023 12.
Article
in English
| MEDLINE | ID: mdl-38009873
5.
Anterior extension of the choroid plexus into the frontal horns of the fetal lateral cerebral ventricles: Prenatal findings and postnatal outcome.
Prenat Diagn
; 43(6): 756-762, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36946677
6.
Simple prenatal imaging predictors for postnatal cerebrospinal fluid diversion surgery in fetuses undergoing in utero surgery for spina bifida.
Prenat Diagn
; 43(13): 1605-1613, 2023 12.
Article
in English
| MEDLINE | ID: mdl-37975651
7.
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Am J Hum Genet
; 105(5): 1005-1015, 2019 11 07.
Article
in English
| MEDLINE | ID: mdl-31630790
8.
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
Hum Mutat
; 42(7): 862-876, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33942433
9.
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.
Hum Mol Genet
; 28(2): 290-306, 2019 01 15.
Article
in English
| MEDLINE | ID: mdl-30304514
10.
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges.
Am J Med Genet A
; 185(10): 3129-3135, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34159711
11.
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.
Brain
; 143(10): 2911-2928, 2020 10 01.
Article
in English
| MEDLINE | ID: mdl-33103737
12.
Brain and Placental Pathology in Fetal COL4A1 Related Disease.
Pediatr Dev Pathol
; 24(3): 175-186, 2021.
Article
in English
| MEDLINE | ID: mdl-33475042
13.
Abusive head trauma: neuroimaging mimics and diagnostic complexities.
Pediatr Radiol
; 51(6): 947-965, 2021 May.
Article
in English
| MEDLINE | ID: mdl-33999237
14.
Associations Between Age at Arterial Switch Operation, Brain Growth, and Development in Infants With Transposition of the Great Arteries.
Circulation
; 139(24): 2728-2738, 2019 06 11.
Article
in English
| MEDLINE | ID: mdl-31132861
15.
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.
Clin Genet
; 98(6): 613-619, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32888207
16.
Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants.
Am J Med Genet A
; 182(7): 1807-1811, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32506814
17.
The sixth international RASopathies symposium: Precision medicine-From promise to practice.
Am J Med Genet A
; 182(3): 597-606, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31825160
18.
Decreased Brain Volumes and Infants With Congenital Heart Disease Undergoing Venoarterial Extracorporeal Membrane Oxygenation.
Pediatr Crit Care Med
; 21(8): 738-745, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32195905
19.
Natural History of Ventriculomegaly in Fetal Agenesis of the Corpus Callosum.
J Ultrasound Med
; 39(3): 483-488, 2020 Mar.
Article
in English
| MEDLINE | ID: mdl-31502300
20.
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.
Genet Med
; 21(4): 1021-1026, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30293988