159 related articles for article (PubMed ID: 35599849)
1. Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM; Adam S; du Souich C; Lehman A; Nelson TN; van Karnebeek C; Alderman E; Armstrong L; Aubertin G; Blood K; Boelman C; Boerkoel C; Bretherick K; Brown L; Chijiwa C; Clarke L; Couse M; Creighton S; Watts-Dickens A; Gibson WT; Gill H; Tarailo-Graovac M; Hamilton S; Heran H; Horvath G; Huang L; Hulait GK; Koehn D; Lee HK; Lewis S; Lopez E; Louie K; Niederhoffer K; Matthews A; Meagher K; Peng JJ; Patel MS; Race S; Richmond P; Rupps R; Salvarinova R; Seath K; Selby K; Steinraths M; Stockler S; Tang K; Tyson C; van Allen M; Wasserman W; Mwenifumbo J; Friedman JM
HGG Adv; 2022 Jul; 3(3):100108. PubMed ID: 35599849
[TBL] [Abstract][Full Text] [Related]
2. Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.
Lazier J; Hartley T; Brock JA; Caluseriu O; Chitayat D; Laberge AM; Langlois S; Lauzon J; Nelson TN; Parboosingh J; Stavropoulos DJ; Boycott K; Armour CM;
J Med Genet; 2022 Oct; 59(10):931-937. PubMed ID: 34544840
[TBL] [Abstract][Full Text] [Related]
3. The long-term impact of receiving incidental findings on parents undergoing genome-wide sequencing.
Cheung F; Birch P; Friedman JM; ; ; Elliott AM; Adam S
J Genet Couns; 2022 Aug; 31(4):887-900. PubMed ID: 35128755
[TBL] [Abstract][Full Text] [Related]
4. Integration of genetic counsellors in genomic testing triage: Outcomes of a genomic consultation service in British Columbia, Canada.
Cook CB; Dragojlovic N; Siemens A; Adam S; du Souich C; van Karnebeek C; Lehman A; Nelson TN; Friedman J; ; ; Lynd LD; Elliott AM
Eur J Med Genet; 2021 Jul; 64(7):104024. PubMed ID: 32798762
[TBL] [Abstract][Full Text] [Related]
5. Shortened consent forms for genome-wide sequencing: Parent and provider perspectives.
Hitchcock EC; Study C; Elliott AM
Mol Genet Genomic Med; 2020 Jul; 8(7):e1254. PubMed ID: 32383361
[TBL] [Abstract][Full Text] [Related]
6. The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia.
Elliott AM; du Souich C; Adam S; Dragojlovic N; van Karnebeek C; Nelson TN; Lehman A; ; Lynd LD; Friedman JM
Mol Genet Genomic Med; 2018 May; 6(4):592-600. PubMed ID: 29851296
[TBL] [Abstract][Full Text] [Related]
7. The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.
Boycott K; Hartley T; Adam S; Bernier F; Chong K; Fernandez BA; Friedman JM; Geraghty MT; Hume S; Knoppers BM; Laberge AM; Majewski J; Mendoza-Londono R; Meyn MS; Michaud JL; Nelson TN; Richer J; Sadikovic B; Skidmore DL; Stockley T; Taylor S; van Karnebeek C; Zawati MH; Lauzon J; Armour CM;
J Med Genet; 2015 Jul; 52(7):431-7. PubMed ID: 25951830
[TBL] [Abstract][Full Text] [Related]
8. Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists.
El Mecky J; Johansson L; Plantinga M; Fenwick A; Lucassen A; Dijkhuizen T; van der Hout A; Lyle K; van Langen I
BMC Med Genomics; 2019 Nov; 12(1):170. PubMed ID: 31779608
[TBL] [Abstract][Full Text] [Related]
9. Far and wide: Exploring provider utilization of remote service provision for genome-wide sequencing in Canada.
Enns EA; Wainstein T; Dragojlovic N; Kopac N; ; Lynd LD; Elliott AM
Mol Genet Genomic Med; 2021 Oct; 9(10):e1784. PubMed ID: 34532994
[TBL] [Abstract][Full Text] [Related]
10. Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Kooshavar D; Amor DJ; Boggs K; Baker N; Barnett C; de Silva MG; Edwards S; Fahey MC; Marum JE; Snell P; Bozaoglu K; Pope K; Mohammad SS; Riney K; Sachdev R; Scheffer IE; Schenscher S; Silberstein J; Smith N; Tom M; Ware TL; Lockhart PJ; Leventer RJ
Brain Commun; 2024; 6(2):fcae056. PubMed ID: 38444904
[TBL] [Abstract][Full Text] [Related]
11. Genetic counseling considerations in cerebral palsy.
Elliott AM; Guimond C
Mol Genet Metab; 2022 Dec; 137(4):428-435. PubMed ID: 34389249
[TBL] [Abstract][Full Text] [Related]
12. Genetic counseling considerations with rapid genome-wide sequencing in a neonatal intensive care unit.
Smith EE; du Souich C; Dragojlovic N; ; ; Elliott AM
J Genet Couns; 2019 Apr; 28(2):263-272. PubMed ID: 30964583
[TBL] [Abstract][Full Text] [Related]
13. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G; Matalonga L; Pujadas M; Papakonstantinou A; Piscia D; Tonda R; Artuch R; Gallano P; Garrabou G; González JR; Grinberg D; Guitart M; Laurie S; Lázaro C; Luengo C; Martí R; Milà M; Ovelleiro D; Parra G; Pujol A; Tizzano E; Macaya A; Palau F; Ribes A; Pérez-Jurado LA; Beltran S;
J Mol Diagn; 2022 May; 24(5):529-542. PubMed ID: 35569879
[TBL] [Abstract][Full Text] [Related]
14. Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients.
SoRelle JA; Thodeson DM; Arnold S; Gotway G; Park JY
JAMA Pediatr; 2019 Jan; 173(1):e182302. PubMed ID: 30398534
[TBL] [Abstract][Full Text] [Related]
15. Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing.
Watson S; Ngo KJ; Stevens HA; Wong DY; Kim J; Song Y; Han B; Hyun SI; Khang R; Ryu SW; Lee E; Seo G; Lee H; Lajonchere C; Fogel BL
Neurol Genet; 2024 Jun; 10(3):e200133. PubMed ID: 38617022
[TBL] [Abstract][Full Text] [Related]
16. Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV; Esplin ED; Aguilar SJ; Hatchell KE; Ormond KE; Hanson-Kahn A; Atwal PS; Macklin-Mantia S; Hines S; Sak CW; Tucker S; Bleyl SB; Hulick PJ; Gordon OK; Velsher L; Gu JYJ; Weissman SM; Kruisselbrink T; Abel C; Kettles M; Slavotinek A; Mendelsohn BA; Green RC; Aradhya S; Nussbaum RL
BMC Med; 2021 Aug; 19(1):199. PubMed ID: 34404389
[TBL] [Abstract][Full Text] [Related]
17. Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.
Alankarage D; Ip E; Szot JO; Munro J; Blue GM; Harrison K; Cuny H; Enriquez A; Troup M; Humphreys DT; Wilson M; Harvey RP; Sholler GF; Graham RM; Ho JWK; Kirk EP; Pachter N; Chapman G; Winlaw DS; Giannoulatou E; Dunwoodie SL
Genet Med; 2019 May; 21(5):1111-1120. PubMed ID: 30293987
[TBL] [Abstract][Full Text] [Related]
18. Genomics Integration Into Nephrology Practice.
Pinto E Vairo F; Prochnow C; Kemppainen JL; Lisi EC; Steyermark JM; Kruisselbrink TM; Pichurin PN; Dhamija R; Hager MM; Albadri S; Cornell LD; Lazaridis KN; Klee EW; Senum SR; El Ters M; Amer H; Baudhuin LM; Moyer AM; Keddis MT; Zand L; Sas DJ; Erickson SB; Fervenza FC; Lieske JC; Harris PC; Hogan MC
Kidney Med; 2021; 3(5):785-798. PubMed ID: 34746741
[TBL] [Abstract][Full Text] [Related]
19. Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Rehder C; Bean LJH; Bick D; Chao E; Chung W; Das S; O'Daniel J; Rehm H; Shashi V; Vincent LM;
Genet Med; 2021 Aug; 23(8):1399-1415. PubMed ID: 33927380
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
