Detalhe da pesquisa
1.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 111(4): 778-790, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531365
2.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(1): 96-118, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181735
3.
Apigenin as a Candidate Prenatal Treatment for Trisomy 21: Effects in Human Amniocytes and the Ts1Cje Mouse Model.
Am J Hum Genet
; 107(5): 911-931, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098770
4.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Am J Hum Genet
; 107(1): 164-172, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32553196
5.
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Genet Med
; 25(7): 100839, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057675
6.
Hereditary thrombocytopenia with platelet sialic acid deficiency and mutations in the GNE genes.
Transfusion
; 63(5): 1092-1099, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36941763
7.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(4): 805, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508193
8.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723631
9.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38749428
10.
2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics.
Genet Med
; 24(10): 2167-2179, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36040446
11.
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(11): 2029-2037, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34211152
12.
The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(3): 100342, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36547466
13.
Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome.
Hum Genet
; 133(9): 1075-82, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24850140
14.
Inflammatory Arthritis in a 19-month-old with Von Hippel-Lindau Disease.
R I Med J (2013)
; 106(5): 30-33, 2023 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37195158
15.
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.
medRxiv
; 2023 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034625
16.
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Eur J Hum Genet
; 31(9): 1023-1031, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37344571
17.
Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
Cold Spring Harb Mol Case Stud
; 8(2)2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091509
18.
Lack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic PTPN11 Variant.
Case Rep Endocrinol
; 2021: 5571524, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34194850
19.
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.
J Child Neurol
; 36(2): 93-98, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32928027
20.
Severe Dental Disease as a Presenting Sign of Relapsed 6q24-Related Transient Neonatal Diabetes Mellitus.
Case Rep Endocrinol
; 2020: 8828516, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33274084