Detalhe da pesquisa
1.
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Am J Hum Genet;
103(6): 948-967, 2018 12 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30526868
2.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet;
103(2): 245-260, 2018 08 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30057031
3.
Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.
Neuropathology;
40(3): 302-307, 2020 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32037607
4.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Hum Mutat;
40(7): 908-925, 2019 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30817854
5.
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.
J Genet Couns;
28(6): 1107-1118, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31478310
6.
Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network.
J Genet Couns;
27(5): 1087-1101, 2018 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29497923
7.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet;
103(3): 456, 2018 09 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30193138
8.
Student-Athletes' Views on APOE Genotyping for Increased Risk of Poor Recovery after a Traumatic Brain Injury.
J Genet Couns;
25(6): 1267-1275, 2016 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27207686
9.
Novel NUDT2 variant causes intellectual disability and polyneuropathy.
Ann Clin Transl Neurol;
7(11): 2320-2325, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33058507