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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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38479391
2.
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Genet Med
; 26(2): 101012, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37924259
3.
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).
J Med Genet
; 60(6): 523-532, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36822643
4.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet
; 60(12): 1224-1234, 2023 Nov 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-37586838
5.
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Clin Genet
; 103(3): 288-300, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36353900
6.
Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome.
Haematologica
; 107(4): 887-898, 2022 04 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34092059
7.
Further clinical delineation of microcephaly-capillary malformation syndrome.
Am J Med Genet A
; 188(11): 3350-3357, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35962715
8.
Neurodevelopmental functioning in probands and non-proband carriers of 22q11.2 microduplication.
Am J Med Genet A
; 188(10): 2999-3008, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35899837
9.
Recurrent microbial community types driven by nearshore and seasonal processes in coastal Southern California.
Environ Microbiol
; 23(6): 3225-3239, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33928761
10.
Genetic and metabolic investigations for individuals with neurodevelopmental disorders: A survey of Canadian geneticists' practices.
Am J Med Genet A
; 185(6): 1757-1766, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33720531
11.
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges.
Am J Med Genet A
; 185(10): 3129-3135, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34159711
12.
A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome.
Am J Med Genet A
; 182(9): 2145-2151, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32652832
13.
Tatton-Brown-Rahman syndrome: Six individuals with novel features.
Am J Med Genet A
; 182(4): 673-680, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31961069
14.
Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.
Clin Genet
; 95(5): 601-606, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30790272
15.
Distribution of dissolved iron and bacteria producing the photoactive siderophore, vibrioferrin, in waters off Southern California and Northern Baja.
Biometals
; 32(1): 139-154, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30623317
16.
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Hum Mutat
; 39(5): 666-675, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29330883
17.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Genet Med
; 20(4): 435-443, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28771251
18.
Assessing the accuracy of the Modified Checklist for Autism in Toddlers: a systematic review and meta-analysis.
Dev Med Child Neurol
; 60(11): 1093-1100, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-29992541
19.
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
Hum Mol Genet
; 24(11): 3172-80, 2015 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-25701870
20.
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Hum Mol Genet
; 24(20): 5697-710, 2015 Oct 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-26206890