Detalhe da pesquisa
1.
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.
Am J Hum Genet
; 111(5): 841-862, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38593811
2.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Hum Mutat
; 43(2): 266-282, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859529
3.
An innovative medical school curriculum to enhance exposure to genetics and genomics: Updates and outcomes.
Genet Med
; 24(3): 722-728, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906481
4.
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.
Am J Med Genet A
; 188(1): 259-268, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34510712
5.
A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.
Am J Med Genet A
; 188(7): 2198-2203, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396900
6.
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Am J Med Genet A
; 188(8): 2360-2366, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35751429
7.
Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome.
Pediatr Hematol Oncol
; 39(8): 747-754, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35275800
8.
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.
Am J Med Genet A
; 185(3): 836-840, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443296
9.
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Am J Hum Genet
; 100(1): 91-104, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27939640
10.
Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.
Am J Med Genet A
; 182(9): 2077-2084, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32656927
11.
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
Am J Med Genet A
; 182(5): 1167-1176, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32181591
12.
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Am J Hum Genet
; 99(4): 831-845, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27640307
13.
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Genet Med
; 21(10): 2355-2363, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30940925
14.
Objective measures of sleep disturbances in children with Potocki-Lupski syndrome.
Am J Med Genet A
; 179(10): 1982-1986, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31342617
15.
Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome.
Am J Med Genet A
; 179(7): 1366-1370, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31066191
16.
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Am J Hum Genet
; 97(5): 691-707, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26544804
17.
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Genet Med
; 19(1): 45-52, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27195816
18.
Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.
Am J Med Genet A
; 173(3): 716-720, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28127865
19.
Novel EED mutation in patient with Weaver syndrome.
Am J Med Genet A
; 173(2): 541-545, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27868325
20.
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.
Hum Genet
; 135(10): 1161-74, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27386852