Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. Am J Med Genet A. 2022 01; 188(1):272-282.
PMID: 34515416
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification. Am J Hum Genet. 2020 03 05; 106(3):412-421.
PMID: 32142645
Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study.
Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study. Am J Med Genet A. 2020 01; 182(1):213-218.
PMID: 31729143
De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.
De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome. Am J Med Genet A. 2017 Jun; 173(6):1656-1662.
PMID: 28407363
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis. Am J Med Genet A. 2012 Jul; 158A(7):1654-61.
PMID: 22678932
Neurobehavioral abnormalities in first-degree relatives of individuals with autism.
Neurobehavioral abnormalities in first-degree relatives of individuals with autism. Arch Gen Psychiatry. 2010 Aug; 67(8):830-40.
PMID: 20679591
Moyamoya vasculopathy in a child after hemolytic uremic syndrome: a possible etiopathogenesis.
Moyamoya vasculopathy in a child after hemolytic uremic syndrome: a possible etiopathogenesis. Neuropediatrics. 2008 Apr; 39(2):128-30.
PMID: 18671191
Balancing risks: dosing strategies for antidepressants near the end of pregnancy.
Balancing risks: dosing strategies for antidepressants near the end of pregnancy. J Clin Psychiatry. 2008 Feb; 69(2):323-4.
PMID: 18363456
Effects of polymorphisms of chemokine receptors on neurodevelopment and the onset of encephalopathy in children with perinatal HIV-1 infection.
Effects of polymorphisms of chemokine receptors on neurodevelopment and the onset of encephalopathy in children with perinatal HIV-1 infection. Appl Neuropsychol. 2006; 13(3):180-9.
PMID: 17361671
Eye movements in neurodevelopmental disorders.
Eye movements in neurodevelopmental disorders. Curr Opin Neurol. 2004 Feb; 17(1):37-42.
PMID: 15090875