Detalles de la búsqueda
1.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Genet Med;
26(2): 101023, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37947183
2.
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Mol Psychiatry;
26(11): 6125-6148, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34188164
3.
A retrospective cohort analysis of the Yale pediatric genomics discovery program.
Am J Med Genet A;
188(10): 2869-2878, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35899841
4.
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.
J Med Genet;
58(7): 453-464, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32631816
5.
Functional testing for variant prioritization in a family with long QT syndrome.
Mol Genet Genomics;
296(4): 823-836, 2021 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-33876311
6.
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
Am J Med Genet A;
185(4): 1076-1080, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33438828
7.
DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.
Am J Med Genet A;
182(9): 2049-2057, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32656949
8.
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.
Am J Med Genet A;
182(10): 2291-2296, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32812332
9.
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.
J Med Genet;
56(2): 113-122, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30323019
10.
A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.
Am J Med Genet A;
176(2): 415-420, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29266745
11.
Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Mol Psychiatry;
26(12): 7852, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34282265
12.
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
J Clin Invest;
134(4)2024 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38357931
13.
Provider- and System-Level Barriers and Facilitators to Colonoscopy and Multi-Target Stool DNA for Colorectal Cancer Screening in Rural/Remote Alaska Native Communities.
Int J Environ Res Public Health;
20(22)2023 Nov 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37998261
14.
TBX5 variant with the novel phenotype of mixedtype total anomalous pulmonary venous return in HoltOram Syndrome and variable intrafamilial heart defects.
Mol Med Rep;
25(6)2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35514310
15.
A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype.
Cold Spring Harb Mol Case Stud;
6(3)2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32299812
16.
Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure.
Cold Spring Harb Mol Case Stud;
5(6)2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31653660
17.
Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum.
Cold Spring Harb Mol Case Stud;
5(3)2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30819764
18.
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.
Eur J Med Genet;
62(9): 103551, 2019 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-30300710
19.
When lungs and weights tell different stories.
Pediatr Pulmonol;
59(4): 1047-1059, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38353400
20.
Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants.
Front Physiol;
10: 1612, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-32038292