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Page 1
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
Sleven H, Welsh SJ, Yu J, Churchill MEA, Wright CF, Henderson A, Horvath R, Rankin J, Vogt J, Magee A, McConnell V, Green A, King MD, Cox H, Armstrong L, Lehman A, Nelson TN; Deciphering Developmental Disorders study; CAUSES study; Williams J, Clouston P, Hagman J, Németh AH. Sleven H, et al. Among authors: armstrong l. Am J Hum Genet. 2017 Jan 5;100(1):138-150. doi: 10.1016/j.ajhg.2016.11.020. Epub 2016 Dec 23. Am J Hum Genet. 2017. PMID: 28017370 Free PMC article.
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.
Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, Armstrong L, Asano J, Bailey DK, Barber S, Birch P, Brown-John M, Cao M, Chan S, Charest DL, Farnoud N, Fernandes N, Flibotte S, Go A, Gibson WT, Holt RA, Jones SJ, Kennedy GC, Krzywinski M, Langlois S, Li HI, McGillivray BC, Nayar T, Pugh TJ, Rajcan-Separovic E, Schein JE, Schnerch A, Siddiqui A, Van Allen MI, Wilson G, Yong SL, Zahir F, Eydoux P, Marra MA. Friedman JM, et al. Among authors: armstrong l. Am J Hum Genet. 2006 Sep;79(3):500-13. doi: 10.1086/507471. Epub 2006 Jul 25. Am J Hum Genet. 2006. PMID: 16909388 Free PMC article.
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.
Elliott AM, du Souich C, Lehman A, Guella I, Evans DM, Candido T, Tooman L, Armstrong L, Clarke L, Gibson W, Gill H, Lavoie PM, Lewis S, McKinnon ML, Nikkel SM, Patel M, Solimano A, Synnes A, Ting J, van Allen M, Christilaw J, Farrer MJ, Friedman JM, Osiovich H. Elliott AM, et al. Among authors: armstrong l. Eur J Pediatr. 2019 Aug;178(8):1207-1218. doi: 10.1007/s00431-019-03399-4. Epub 2019 Jun 7. Eur J Pediatr. 2019. PMID: 31172278
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Polla DL, Edmondson AC, Duvet S, March ME, Sousa AB, Lehman A; CAUSES Study; Niyazov D, van Dijk F, Demirdas S, van Slegtenhorst MA, Kievit AJA, Schulz C, Armstrong L, Bi X, Rader DJ, Izumi K, Zackai EH, de Franco E, Jorge P, Huffels SC, Hommersom M, Ellard S, Lefeber DJ, Santani A, Hand NJ, van Bokhoven H, He M, de Brouwer APM. Polla DL, et al. Among authors: armstrong l. Am J Hum Genet. 2021 Jul 1;108(7):1342-1349. doi: 10.1016/j.ajhg.2021.05.010. Epub 2021 Jun 17. Am J Hum Genet. 2021. PMID: 34143952 Free PMC article.
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.
Cook CB, Armstrong L, Boerkoel CF, Clarke LA, du Souich C, Demos MK, Gibson WT, Gill H, Lopez E, Patel MS, Selby K, Abu-Sharar Z; CAUSES Study; Elliott AM, Friedman JM. Cook CB, et al. Among authors: armstrong l. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006125. doi: 10.1101/mcs.a006125. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34697084 Free PMC article.
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. Elliott AM, et al. Among authors: armstrong l. HGG Adv. 2022 Apr 18;3(3):100108. doi: 10.1016/j.xhgg.2022.100108. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35599849 Free PMC article.
988 results