Search details
1.
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Am J Hum Genet
; 106(1): 92-101, 2020 01 02.
Article
in English
| MEDLINE | ID: mdl-31866046
2.
ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway.
Am J Med Genet A
; 191(1): 90-99, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36263470
3.
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
Am J Med Genet A
; 188(9): 2738-2749, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35799415
4.
Pediatric medical genetics house call: Telemedicine for the next generation of patients and providers.
Am J Med Genet C Semin Med Genet
; 187(1): 55-63, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33427371
5.
Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.
Ann Neurol
; 86(6): 899-912, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31600826
6.
Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome.
Am J Med Genet A
; 182(3): 425-430, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31898852
7.
TFE3-associated neurodevelopmental disorder: A distinct recognizable syndrome.
Am J Med Genet A
; 182(3): 584-590, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31833172
8.
Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.
Am J Med Genet A
; 182(1): 201-204, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31692235
9.
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Hum Mutat
; 2019 Oct 23.
Article
in English
| MEDLINE | ID: mdl-31646703
10.
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Genet Med
; 21(3): 663-675, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30158690
11.
MAP1B related syndrome: Case presentation and review of literature.
Am J Med Genet A
; 179(9): 1703-1708, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31317654
12.
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Am J Med Genet A
; 179(4): 542-551, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30719864
13.
Cornelia de Lange syndrome in diverse populations.
Am J Med Genet A
; 179(2): 150-158, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30614194
14.
Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.
Am J Med Genet A
; 176(3): 551-559, 2018 Mar.
Article
in English
| MEDLINE | ID: mdl-29341460
15.
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Am J Med Genet A
; 176(4): 862-876, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29460469
16.
Mutations in NOTCH1 cause Adams-Oliver syndrome.
Am J Hum Genet
; 95(3): 275-84, 2014 Sep 04.
Article
in English
| MEDLINE | ID: mdl-25132448
17.
Domino liver transplantation: Expanding the liver donor pool to the pediatric recipient.
Liver Transpl
; 28(12): 1947-1950, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35689402
18.
Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.
Am J Med Genet A
; 173(6): 1502-1513, 2017 Jun.
Article
in English
| MEDLINE | ID: mdl-28402605
19.
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
Am J Med Genet A
; 170(10): 2681-93, 2016 10.
Article
in English
| MEDLINE | ID: mdl-27311832
20.
Biochemical abnormalities in Pearson syndrome.
Am J Med Genet A
; 167A(3): 621-8, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25691415