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Items: 1 to 20 of 79

1.

Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.

Pandelache A, Baker EK, Aliaga SM, Arpone M, Forbes R, Stark Z, Francis D, Godler DE.

Genes (Basel). 2019 Apr 5;10(4). pii: E279. doi: 10.3390/genes10040279.

2.

Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.

Tan NB, Tan TY, Martyn MM, Savarirayan R, Amor DJ, Moody A, White SM, Stark Z.

J Paediatr Child Health. 2019 Feb 12. doi: 10.1111/jpc.14398. [Epub ahead of print]

PMID:
30756437
3.

Genetic counseling in pediatric acute care: Reflections on ultra-rapid genomic diagnoses in neonates.

Ayres S, Gallacher L, Stark Z, Brett GR.

J Genet Couns. 2019 Apr;28(2):273-282. doi: 10.1002/jgc4.1086. Epub 2019 Jan 21.

PMID:
30663825
4.

Cornelia de Lange syndrome in diverse populations.

Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID.

Am J Med Genet A. 2019 Feb;179(2):150-158. doi: 10.1002/ajmg.a.61033. Epub 2019 Jan 6.

PMID:
30614194
5.

Integrating Genomics into Healthcare: A Global Responsibility.

Stark Z, Dolman L, Manolio TA, Ozenberger B, Hill SL, Caulfied MJ, Levy Y, Glazer D, Wilson J, Lawler M, Boughtwood T, Braithwaite J, Goodhand P, Birney E, North KN.

Am J Hum Genet. 2019 Jan 3;104(1):13-20. doi: 10.1016/j.ajhg.2018.11.014.

6.

Rapid Challenges: Ethics and Genomic Neonatal Intensive Care.

Gyngell C, Newson AJ, Wilkinson D, Stark Z, Savulescu J.

Pediatrics. 2019 Jan;143(Suppl 1):S14-S21. doi: 10.1542/peds.2018-1099D.

PMID:
30600266
7.

A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene.

Jensen LR, Garrett L, Hölter SM, Rathkolb B, Rácz I, Adler T, Prehn C, Hans W, Rozman J, Becker L, Aguilar-Pimentel JA, Puk O, Moreth K, Dopatka M, Walther DJ, von Bohlen Und Halbach V, Rath M, Delatycki M, Bert B, Fink H, Blümlein K, Ralser M, Van Dijck A, Kooy F, Stark Z, Müller S, Scherthan H, Gecz J, Wurst W, Wolf E, Zimmer A, Klingenspor M, Graw J, Klopstock T, Busch D, Adamski J, Fuchs H, Gailus-Durner V, de Angelis MH, von Bohlen Und Halbach O, Ropers HH, Kuss AW.

Biochim Biophys Acta Mol Basis Dis. 2018 Dec 14. pii: S0925-4439(18)30497-6. doi: 10.1016/j.bbadis.2018.12.011. [Epub ahead of print]

8.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

Rehman AU, Najafi M, Kambouris M, Al-Gazali L, Makrythanasis P, Rad A, Maroofian R, Rajab A, Stark Z, Hunter JV, Bakey Z, Tokita MJ, He W, Vetrini F, Petersen A, Santoni FA, Hamamy H, Wu K, Al-Jasmi F, Helmstädter M, Arnold SJ, Xia F, Richmond C, Liu P, Karimiani EG, Karami Madani G, Lunke S, El-Shanti H, Eng CM, Antonarakis SE, Hertecant J, Walkiewicz M, Yang Y, Schmidts M.

Hum Mutat. 2019 Mar;40(3):267-280. doi: 10.1002/humu.23694. Epub 2018 Dec 25.

PMID:
30520571
9.

Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency.

Watson LR, Slade CA, Ojaimi S, Barnes S, Fedele P, Smith P, Marum J, Lunke S, Stark Z, Hunter MF, Bryant VL, Low MSY.

Allergy Asthma Clin Immunol. 2018 Oct 22;14:65. doi: 10.1186/s13223-018-0272-7. eCollection 2018.

10.

Axenfeld-Rieger syndrome as a rare cause of umbilical abnormality.

Ali Z, Charan P, Said JM, Stark Z.

Ultrasound Obstet Gynecol. 2018 Sep 25. doi: 10.1002/uog.20129. [Epub ahead of print]

PMID:
30255586
11.

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study,, Arboleda VA, Newbury-Ecob R.

Genet Med. 2019 Apr;21(4):850-860. doi: 10.1038/s41436-018-0259-2. Epub 2018 Sep 24.

PMID:
30245513
12.

Renal genetics in Australia: Kidney medicine in the genomic age.

Jayasinghe K, Quinlan C, Stark Z, Patel C, Mallawaarachchi A, Wardrop L, Kerr PG, Trnka P, Mallett AJ; KidGen Collaborative.

Nephrology (Carlton). 2019 Mar;24(3):279-286. doi: 10.1111/nep.13494. Epub 2018 Oct 18. Review.

PMID:
30239064
13.

Rare cause of maternal and neonatal hypercalcaemia.

McBride L, Crosthwaite A, Houlihan C, Stark Z, Rodda C.

J Paediatr Child Health. 2019 Feb;55(2):232-235. doi: 10.1111/jpc.14219. Epub 2018 Sep 15. No abstract available.

PMID:
30218463
14.

Insights into the genotype-phenotype correlation and molecular function of SLC25A46.

Abrams AJ, Fontanesi F, Tan NBL, Buglo E, Campeanu IJ, Rebelo AP, Kornberg AJ, Phelan DG, Stark Z, Zuchner S.

Hum Mutat. 2018 Dec;39(12):1995-2007. doi: 10.1002/humu.23639. Epub 2018 Sep 17.

PMID:
30178502
15.

Correction: Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.

Stark Z, Schofield D, Martyn M, Rynehart L, Shrestha R, Alam K, Lunke S, Tan TY, Gaff CL, White SM.

Genet Med. 2019 Feb;21(2):516. doi: 10.1038/s41436-018-0078-5.

PMID:
30158691
16.

SYT1-associated neurodevelopmental disorder: a case series.

Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, Owen D, Turner BJ, Boyd SG, Rossi M, Al-Raqad M, Elpeleg O, Peck D, Mancini GMS, Wilke M, Zollino M, Marangi G, Weigand H, Borggraefe I, Haack T, Stark Z, Sadedin S; Broad Center for Mendelian Genomics, Tan TY, Jiang Y, Gibbs RA, Ellingwood S, Amaral M, Kelley W, Kurian MA, Cousin MA, Raymond FL.

Brain. 2018 Sep 1;141(9):2576-2591. doi: 10.1093/brain/awy209.

17.

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.

Clark MM, Stark Z, Farnaes L, Tan TY, White SM, Dimmock D, Kingsmore SF.

NPJ Genom Med. 2018 Jul 9;3:16. doi: 10.1038/s41525-018-0053-8. eCollection 2018.

18.

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.

Woodcock IR, Menezes MP, Coleman L, Yaplito-Lee J, Peters H, White SM, Stapleton R, Phelan DG, Chong B, Lunke S, Stark Z, Pitt J, Ryan MM, Robertson C, Yiu EM.

Semin Pediatr Neurol. 2018 Jul;26:2-9. doi: 10.1016/j.spen.2017.03.001. Epub 2017 Apr 5.

PMID:
29961509
19.

Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?

Friedman JM, Bombard Y, Cornel MC, Fernandez CV, Junker AK, Plon SE, Stark Z, Knoppers BM; Paediatric Task Team of the Global Alliance for Genomics and Health Regulatory and Ethics Work Stream.

Genet Med. 2018 Jun 12. doi: 10.1038/s41436-018-0055-z. [Epub ahead of print]

PMID:
29895853
20.

Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.

Stutterd C, McGillivray G, Stark Z, Messazos B, Cameron F, White S; Melbourne Genomics Health Alliance, Mirzaa G, Leventer R.

Eur J Med Genet. 2018 Dec;61(12):738-740. doi: 10.1016/j.ejmg.2018.06.002. Epub 2018 Jun 5.

PMID:
29883676

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