Detalhe da pesquisa
1.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 361-372, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051358
2.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
J Med Genet
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38471765
3.
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Am J Hum Genet
; 108(1): 8-15, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417889
4.
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Prenat Diagn
; 44(2): 237-246, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632214
5.
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
Brain
; 144(7): 2092-2106, 2021 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704440
6.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Am J Med Genet A
; 185(6): 1649-1665, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33783954
7.
Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature.
Am J Med Genet A
; 182(4): 623-627, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32003537
8.
Therapeutic Benefit of Blood Transfusion in a Patient With Novel PGK1 Mutation (c.461T>C [p.L154P]).
J Pediatr Hematol Oncol
; 42(4): e228-e230, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30951021
9.
Response to Hamosh et al.
Am J Hum Genet
; 108(9): 1809-1810, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34478656
10.
A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses.
Genet Med
; 21(10): 2199-2207, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30894705
11.
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
Am J Med Genet A
; 179(8): 1543-1546, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31207089
12.
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Am J Hum Genet
; 96(3): 462-73, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25683120
13.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Am J Hum Genet
; 97(1): 99-110, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26119818
14.
38th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2017 Annual Meeting.
Am J Med Genet A
; : 1463-1536, 2018 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-29696775
15.
Congenital lumbar hernia-A feature of diabetic embryopathy?
Am J Med Genet A
; 176(11): 2243-2249, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30276953
16.
Intestinal malrotation in Rubinstein-Taybi syndrome.
Am J Med Genet A
; 167A(10): 2399-401, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26097216
17.
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.
Am J Hum Genet
; 89(1): 28-43, 2011 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21700266
18.
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.
J Med Genet
; 50(3): 194-7, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23355746
19.
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.
Am J Med Genet A
; 161A(12): 3012-7, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24115501
20.
Investigation of NRXN1 deletions: clinical and molecular characterization.
Am J Med Genet A
; 161A(4): 717-31, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23495017