Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 14

1.

Genetic landscape of pediatric movement disorders and management implications.

Cordeiro D, Bullivant G, Siriwardena K, Evans A, Kobayashi J, Cohn RD, Mercimek-Andrews S.

Neurol Genet. 2018 Sep 26;4(5):e265. doi: 10.1212/NXG.0000000000000265. eCollection 2018 Oct.

2.

DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.

Veenma D, Cordeiro D, Sondheimer N, Mercimek-Andrews S.

Eur J Hum Genet. 2018 Aug 23. doi: 10.1038/s41431-018-0237-9. [Epub ahead of print]

PMID:
30139987
3.

Outcome of Patients With Inherited Neurotransmitter Disorders.

Cordeiro D, Bullivant G, Cohn RD, Raiman J, Mercimek-Andrews S.

Can J Neurol Sci. 2018 Sep;45(5):571-576. doi: 10.1017/cjn.2018.266. Epub 2018 Aug 15.

PMID:
30109838
4.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D; Deciphering Developmental Disorders Study, Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM.

Am J Hum Genet. 2018 Jun 7;102(6):1195-1203. doi: 10.1016/j.ajhg.2018.04.014. Epub 2018 May 31.

5.

Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome.

Hannah-Shmouni F, Cruz V, Schulze A, Mercimek-Andrews S.

Am J Med Genet A. 2018 Jun;176(6):1411-1415. doi: 10.1002/ajmg.a.38696. Epub 2018 Apr 16.

PMID:
29663633
6.

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Khaikin Y, Sidky S, Abdenur J, Anastasi A, Ballhausen D, Buoni S, Chan A, Cheillan D, Dorison N, Goldenberg A, Goldstein J, Hofstede FC, Jacquemont ML, Koeberl DD, Lion-Francois L, Lund AM, Mention K, Mundy H, O'Rourke D, Pitelet G, Raspall-Chaure M, Tassini M, Billette de Villemeur T, Williams M, Salomons GS, Mercimek-Andrews S.

Eur J Paediatr Neurol. 2018 May;22(3):369-379. doi: 10.1016/j.ejpn.2018.02.007. Epub 2018 Feb 16.

PMID:
29506905
7.

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.

Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR.

Eur J Hum Genet. 2018 May;26(5):740-744. doi: 10.1038/s41431-018-0114-6. Epub 2018 Feb 16.

PMID:
29453418
8.

Treatment outcome of creatine transporter deficiency: international retrospective cohort study.

Bruun TUJ, Sidky S, Bandeira AO, Debray FG, Ficicioglu C, Goldstein J, Joost K, Koeberl DD, Luísa D, Nassogne MC, O'Sullivan S, Õunap K, Schulze A, van Maldergem L, Salomons GS, Mercimek-Andrews S.

Metab Brain Dis. 2018 Jun;33(3):875-884. doi: 10.1007/s11011-018-0197-3. Epub 2018 Feb 12.

PMID:
29435807
9.

Infantile-onset hand dystonia with intellectual disability: Clues to ARX mutations.

Breen DP, Mercimek-Andrews S, Lang AE.

Neurology. 2018 Feb 13;90(7):333-335. doi: 10.1212/WNL.0000000000004972. Epub 2018 Jan 17. No abstract available.

PMID:
29343471
10.

Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.

Nimmo GAM, Ejaz R, Cordeiro D, Kannu P, Mercimek-Andrews S.

Am J Med Genet A. 2018 Feb;176(2):399-403. doi: 10.1002/ajmg.a.38530. Epub 2017 Nov 30.

PMID:
29193829
11.

Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic.

Hewson S, Brunga L, Ojeda MF, Imhof E, Patel J, Zak M, Donner EJ, Kobayashi J, Salomons GS, Mercimek-Andrews S.

Can J Neurol Sci. 2018 Jan;45(1):93-96. doi: 10.1017/cjn.2017.246. Epub 2017 Nov 16.

PMID:
29144225
12.

Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology.

Zabinyakov N, Bullivant G, Cao F, Fernandez Ojeda M, Jia ZP, Wen XY, Dowling JJ, Salomons GS, Mercimek-Andrews S.

PLoS One. 2017 Oct 20;12(10):e0186645. doi: 10.1371/journal.pone.0186645. eCollection 2017.

13.

Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.

Bruun TUJ, DesRoches CL, Wilson D, Chau V, Nakagawa T, Yamasaki M, Hasegawa S, Fukao T, Marshall C, Mercimek-Andrews S.

Genet Med. 2018 Apr;20(5):486-494. doi: 10.1038/gim.2017.129. Epub 2017 Aug 17.

PMID:
28817111
14.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR.

Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3.

Supplemental Content

Loading ...
Support Center