Detalhe da pesquisa
1.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
Am J Hum Genet
; 106(6): 779-792, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413283
2.
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Mol Genet Metab
; 139(2): 107605, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37207470
3.
The past, present, and future of child growth monitoring: A review and primer for clinical genetics.
Am J Med Genet A
; 191(4): 948-961, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36708136
4.
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Hum Mutat
; 43(10): 1472-1489, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35815345
5.
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Hum Mutat
; 42(4): 445-459, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565190
6.
Pediatric medical genetics house call: Telemedicine for the next generation of patients and providers.
Am J Med Genet C Semin Med Genet
; 187(1): 55-63, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33427371
7.
Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations.
Am J Med Genet A
; 185(1): 134-140, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098355
8.
Rapid deployment of a telemedicine care model for genetics and metabolism during COVID-19.
Am J Med Genet A
; 185(1): 68-72, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33051968
9.
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
Am J Med Genet A
; 185(2): 500-507, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300687
10.
Genetic consultations in cases of unexplained fractures and haemorrhage: an evidence-based approach.
Curr Opin Pediatr
; 33(1): 3-18, 2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33337606
11.
Ehlers-Danlos syndrome: what the radiologist needs to know.
Pediatr Radiol
; 51(6): 1023-1028, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33999243
12.
Genetic causes of fractures and subdural hematomas: fact versus fiction.
Pediatr Radiol
; 51(6): 1029-1043, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33999244
13.
Further Clinical Delineation of Chromosome 1q21Microduplication Syndrome: Robin Sequence as an Under-Recognized Association in Chromosomal Microdeletions and Duplications.
Cleft Palate Craniofac J
; 58(4): 514-517, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32909813
14.
Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation.
Hum Mutat
; 40(6): 816-827, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30870574
15.
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Hum Mol Genet
; 26(24): 4849-4860, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29036646
16.
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
Am J Hum Genet
; 99(4): 886-893, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616478
17.
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Am J Hum Genet
; 98(5): 1001-1010, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108799
18.
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Genet Med
; 21(9): 2036-2042, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30739909
19.
A case of broken bones and systems: The threat of irresponsible testimony.
Am J Med Genet A
; 179(3): 429-434, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30697977
20.
Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria.
Mol Genet Metab
; 125(3): 217-227, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30146451