Search details
1.
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Cell
; 146(6): 889-903, 2011 Sep 16.
Article
in English
| MEDLINE | ID: mdl-21925314
2.
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Genet Med
; 26(6): 101102, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38431799
3.
Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis.
Clin Genet
; 106(1): 95-101, 2024 Jul.
Article
in English
| MEDLINE | ID: mdl-38545656
4.
Intracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial disease.
Am J Med Genet A
; 194(7): e63589, 2024 Jul.
Article
in English
| MEDLINE | ID: mdl-38469956
5.
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Am J Med Genet A
; 194(3): e63445, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37872713
6.
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
J Med Genet
; 60(11): 1092-1104, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37316189
7.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Am J Hum Genet
; 107(3): 544-554, 2020 09 03.
Article
in English
| MEDLINE | ID: mdl-32730804
8.
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Genet Med
; 25(4): 100352, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36473599
9.
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.
Cerebellum
; 22(2): 206-222, 2023 Apr.
Article
in English
| MEDLINE | ID: mdl-35218524
10.
Early initiation of B-vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study.
Am J Med Genet A
; 191(9): 2433-2439, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37421366
11.
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
J Med Genet
; 59(3): 270-278, 2022 03.
Article
in English
| MEDLINE | ID: mdl-33461977
12.
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Hum Mutat
; 43(4): 461-470, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35094443
13.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Am J Hum Genet
; 105(3): 493-508, 2019 09 05.
Article
in English
| MEDLINE | ID: mdl-31447100
14.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 319-330, 2019 02 07.
Article
in English
| MEDLINE | ID: mdl-30639322
15.
The germline p53 activation syndrome: A new patient further refines the clinical phenotype.
Am J Med Genet A
; 188(7): 2204-2208, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35362179
16.
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.
Am J Med Genet A
; 188(11): 3184-3190, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36065636
17.
LMOD2-related dilated cardiomyopathy presenting in late infancy.
Am J Med Genet A
; 188(6): 1858-1862, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35188328
18.
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Am J Med Genet A
; 188(6): 1868-1874, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35194938
19.
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Am J Med Genet A
; 188(12): 3516-3524, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35934918
20.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Genet Med
; 23(7): 1234-1245, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33824499