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Publication Venue For
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Genomic analysis of "microphenotypes" in epilepsy..
188:138-146.
2022
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Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A)..
185:3717-3727.
2021
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Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome..
185:2766-2775.
2021
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De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder..
185:2384-2390.
2021
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TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study..
185:2417-2433.
2021
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TBX5-encoded T-box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death..
185:923-929.
2021
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Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature..
185:286-299.
2021
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EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients..
182:2926-2938.
2020
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A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome..
182:1947-1951.
2020
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Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II..
182:1832-1845.
2020
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Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome..
182:1053-1065.
2020
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HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals..
179:2049-2055.
2019
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Risk factors for primary congenital glaucoma in the National Birth Defects Prevention Study..
179:1846-1856.
2019
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Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network..
179:958-965.
2019
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Cornelia de Lange syndrome in diverse populations..
179:150-158.
2019
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Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6-month longitudinal study..
179:85-93.
2019
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Proceedings of the fifth international RASopathies symposium: When development and cancer intersect..
176:2924-2929.
2018
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Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects..
176:2172-2181.
2018
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Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant..
176:692-698.
2018
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Calvarial mass as a presenting feature of neurofibromatosis type 2 in a pediatric patient..
176:246-247.
2018
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Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas..
176:253-256.
2018
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Challenges in measuring the effects of pharmacological interventions on cognitive and adaptive functioning in individuals with Down syndrome: A systematic review..
173:3058-3066.
2017
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Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date..
173:3029-3041.
2017
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Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?.
173:2628-2634.
2017
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Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study..
173:1539-1545.
2017
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Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound..
173:1219-1225.
2017
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Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia..
173:601-610.
2017
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Detecting celiac disease in patients with Down syndrome..
170:3098-3105.
2016
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Death from supine asphyxia in late onset pompe disease: Two patients..
170:1928-1929.
2016
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Histologically benign, clinically aggressive: Progressive non-optic pathway pilocytic astrocytomas in adults with NF1..
170:1455-1461.
2016
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Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial..
170:1545-1555.
2016
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Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy..
170A:77-86.
2016
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National down syndrome patient database: Insights from the development of a multi-center registry study..
167A:2520-2526.
2015
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The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach..
167A:1741-1746.
2015
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Longitudinal polysomnographic findings in infantile Pompe disease..
167A:858-861.
2015
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Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature..
164A:2879-2886.
2014
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Polysomnographic findings in infantile Pompe disease..
161A:3196-3200.
2013
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Timing of diagnosis of patients with Pompe disease: data from the Pompe registry..
161A:2431-2443.
2013
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Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers..
161A:2105-2107.
2013
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Trilateral retinoblastoma in a patient with Peutz-Jeghers syndrome..
161A:1096-1100.
2013
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Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus..
161A:605-610.
2013
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Response to the letter "How to describe the clinical spectrum in Pompe disease?"..
161A:401-402.
2013
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A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia..
161A:198-202.
2013
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Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy..
158A:3190-3195.
2012
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Sleep-disordered breathing in Beckwith-Wiedemann syndrome: three patients..
158A:2956-2958.
2012
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Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization..
158A:2152-2161.
2012
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Pancreatic insufficiency in Toriello-Carey syndrome: report of a second patient..
158A:1208-1211.
2012
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An inherited disorder with splenomegaly, cytopenias, and vision loss..
158A:475-481.
2012
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Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge..
155A:2186-2195.
2011
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Maternal vitamin D receptor genetic variation contributes to infant birthweight among black mothers..
155A:1264-1271.
2011
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Cantú syndrome: report of nine new cases and expansion of the clinical phenotype..
155A:508-518.
2011
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Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations..
155A:168-173.
2011
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Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10-17..
152A:3028-3035.
2010
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Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2-13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high-density oligonucleotide array-a recognizable syndrome..
152A:2365-2371.
2010
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Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae..
152A:1357-1371.
2010
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Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome..
152A:333-339.
2010
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Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2..
152A:169-174.
2010
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Prenatal diagnosis of Down syndrome: how best to deliver the news..
149A:2361-2367.
2009
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The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome..
149A:1641-1654.
2009
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When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X families..
149A:1190-1199.
2009
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Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters..
146A:2794-2798.
2008