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Items: 11

1.

Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.

Galarreta CI, Wigby KM, Jones MC.

Clin Dysmorphol. 2019 Oct;28(4):175-183. doi: 10.1097/MCD.0000000000000282.

PMID:
31162149
2.

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.

Clark MM, Hildreth A, Batalov S, Ding Y, Chowdhury S, Watkins K, Ellsworth K, Camp B, Kint CI, Yacoubian C, Farnaes L, Bainbridge MN, Beebe C, Braun JJA, Bray M, Carroll J, Cakici JA, Caylor SA, Clarke C, Creed MP, Friedman J, Frith A, Gain R, Gaughran M, George S, Gilmer S, Gleeson J, Gore J, Grunenwald H, Hovey RL, Janes ML, Lin K, McDonagh PD, McBride K, Mulrooney P, Nahas S, Oh D, Oriol A, Puckett L, Rady Z, Reese MG, Ryu J, Salz L, Sanford E, Stewart L, Sweeney N, Tokita M, Van Der Kraan L, White S, Wigby K, Williams B, Wong T, Wright MS, Yamada C, Schols P, Reynders J, Hall K, Dimmock D, Veeraraghavan N, Defay T, Kingsmore SF.

Sci Transl Med. 2019 Apr 24;11(489). pii: eaat6177. doi: 10.1126/scitranslmed.aat6177.

PMID:
31019026
3.

Whole Exome Sequencing Guides Pharmacotherapy for an Adolescent With Autism Spectrum Disorder and Psychosis.

Wigby K, Nicolas S, Carpinello M, Ricciardi MT, Willis MJ.

J Am Acad Child Adolesc Psychiatry. 2019 Mar;58(3):376-377. doi: 10.1016/j.jaac.2018.09.432.

PMID:
30832905
4.

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.

Scocchia A, Wigby KM, Masser-Frye D, Del Campo M, Galarreta CI, Thorpe E, McEachern J, Robinson K, Gross A; ICSL Interpretation and Reporting Team, Ajay SS, Rajan V, Perry DL, Belmont JW, Bentley DR, Jones MC, Taft RJ.

NPJ Genom Med. 2019 Feb 14;4:5. doi: 10.1038/s41525-018-0076-1. eCollection 2019.

5.

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

Friedman J, Smith DE, Issa MY, Stanley V, Wang R, Mendes MI, Wright MS, Wigby K, Hildreth A, Crawford JR, Koehler AE, Chowdhury S, Nahas S, Zhai L, Xu Z, Lo WS, James KN, Musaev D, Accogli A, Guerrero K, Tran LT, Omar TEI, Ben-Omran T, Dimmock D, Kingsmore SF, Salomons GS, Zaki MS, Bernard G, Gleeson JG.

Nat Commun. 2019 Feb 12;10(1):707. doi: 10.1038/s41467-018-07067-3.

6.

A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis-lymphedema-telangiectasia syndrome.

Wangberg H, Wigby K, Jones MC.

Am J Med Genet A. 2018 Dec;176(12):2824-2828. doi: 10.1002/ajmg.a.40532. Epub 2018 Dec 14.

PMID:
30549413
7.

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, Jones MC, Masser-Frye D, Scheuerle AE, Perry DL, Taft RJ, Le Deist F, Thompson M, Kinoshita T, Campeau PM.

Am J Hum Genet. 2018 Oct 4;103(4):602-611. doi: 10.1016/j.ajhg.2018.08.014. Epub 2018 Sep 27.

8.

Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.

Hildreth A, Wigby K, Chowdhury S, Nahas S, Barea J, Ordonez P, Batalov S, Dimmock D, Kingsmore S; RCIGM Investigators.

Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5). pii: a001966. doi: 10.1101/mcs.a001966. Print 2017 Sep.

9.

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.

Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Ghali N, Study DDD, Anderlid BM, Lundin J, Hamosh A, Jones MC, Ghedia S, Muenke M, Kruszka P.

Eur J Hum Genet. 2017 Aug;25(8):946-951. doi: 10.1038/ejhg.2017.86. Epub 2017 May 17.

10.

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.

Wigby K, Twigg SRF, Broderick R, Davenport KP, Wilkie AOM, Bickler SW, Jones MC.

Am J Med Genet A. 2017 Jun;173(6):1586-1592. doi: 10.1002/ajmg.a.38232. Epub 2017 Apr 6.

11.

Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.

Wigby K, D'Epagnier C, Howell S, Reicks A, Wilson R, Cordeiro L, Tartaglia N.

Am J Med Genet A. 2016 Nov;170(11):2870-2881. doi: 10.1002/ajmg.a.37688. Epub 2016 Sep 19.

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