Detalles de la búsqueda
1.
Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(3): 453-461, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31732716
2.
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Genet Med
; 22(2): 245-257, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31690835
3.
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.
Am J Hum Genet
; 99(5): 1015-1033, 2016 Nov 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-27745839
4.
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Am J Hum Genet
; 96(3): 498-506, 2015 Mar 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-25728775
5.
Response to Spurdle et al.
Genet Med
; 25(8): 100869, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-37261438
6.
An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.
Genes Chromosomes Cancer
; 55(2): 131-42, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26542077
7.
Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Genet Med
; 23(11): 2230, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-33731880
8.
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
Nat Genet
; 39(8): 957-9, 2007 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-17632512
9.
Response to Maya et al.
Genet Med
; 22(7): 1278-1279, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32341575
10.
De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders.
Am J Med Genet A
; 164A(4): 958-65, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24459036
11.
X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.
Am J Med Genet A
; 164A(1): 164-9, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24501762
12.
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
JAMA
; 312(18): 1880-7, 2014 Nov 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-25326637
13.
Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.
Am J Med Genet A
; 167(6): 1400-5, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25846266
14.
Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH.
Am J Med Genet A
; 152A(10): 2493-504, 2010 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-20799323
15.
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
Am J Med Genet A
; 146A(14): 1842-7, 2008 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-18553518
16.
Assessing copy number aberrations and copy-neutral loss-of-heterozygosity across the genome as best practice: An evidence-based review from the Cancer Genomics Consortium (CGC) working group for chronic lymphocytic leukemia.
Cancer Genet
; 228-229: 236-250, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30554732
17.
Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.
Clin Case Rep
; 5(6): 833-840, 2017 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28588821
18.
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease.
Am J Kidney Dis
; 45(1): 77-87, 2005 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-15696446
19.
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
JAMA Neurol
; 71(10): 1237-46, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25133958
20.
An unusual case of Philadelphia chromosome-positive chronic myelogenous leukemia with trisomy 19 presenting with megakaryoblastosis and myelofibrosis.
Arch Pathol Lab Med
; 137(8): 1147-51, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-23899072