Detalhe da pesquisa
1.
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Am J Hum Genet
; 111(4): 742-760, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479391
2.
Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder.
Am J Med Genet A
; : e63633, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38634641
3.
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Genet Med
; 25(4): 100352, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36473599
4.
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Am J Hum Genet
; 104(5): 815-834, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31031012
5.
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
J Clin Immunol
; 42(2): 350-364, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34973142
6.
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia.
J Inherit Metab Dis
; 45(4): 734-747, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35357708
7.
Development and characterization of a mouse model for Acad9 deficiency.
Mol Genet Metab
; 134(1-2): 156-163, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34556413
8.
Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach.
Am J Med Genet A
; 185(7): 2046-2055, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33949097
9.
Under-referral of Plain community members for genetic services despite being qualified for genetic evaluation.
J Genet Couns
; 30(4): 1084-1090, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33817879
10.
Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation.
Genes Immun
; 20(6): 520-526, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29977033
11.
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Am J Hum Genet
; 97(1): 163-9, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26073778
12.
B-complex vitamins for patients with TANGO2-deficiency disorder.
J Inherit Metab Dis
; 46(2): 161-162, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36550018
13.
Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus.
J Inherit Metab Dis
; 41(1): 49-57, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28120165
14.
Mitochondrial respiratory chain disorders in the Old Order Amish population.
Mol Genet Metab
; 118(4): 296-303, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27344355
15.
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.
J Inherit Metab Dis
; 39(1): 3-16, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26541327
16.
Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13-q13.2 microdeletion partially involving the HOXC gene cluster.
Am J Med Genet A
; 164A(3): 810-4, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24443387
17.
Familial microduplication of 17q23.1q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.
Am J Med Genet A
; 164A(2): 364-9, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24592505
18.
Rapid Whole Genome Sequencing and Fulfilling the Promise of Precision Pediatric Critical Care.
Pediatr Crit Care Med
; 20(11): 1085-1086, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31688677
19.
Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy.
Genes (Basel)
; 14(3)2023 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980931
20.
Natural history of propionic acidemia in the Amish population.
Mol Genet Metab Rep
; 33: 100936, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36393899