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Items: 20

1.

High Molecular Diagnosis Rate in Undermasculinized Males with Differences in Sex Development Using a Stepwise Approach.

Jacobson JD, Willig LK, Gatti J, Strickland J, Egan A, Saunders C, Farrow E, Heckert LL.

Endocrinology. 2020 Feb 3. pii: bqz015. doi: 10.1210/endocr/bqz015. [Epub ahead of print]

PMID:
32010941
2.

Tracking picosecond strain pulses in heterostructures that exhibit giant magnetostriction.

Zeuschner SP, Parpiiev T, Pezeril T, Hillion A, Dumesnil K, Anane A, Pudell J, Willig L, Rössle M, Herzog M, von Reppert A, Bargheer M.

Struct Dyn. 2019 Mar 20;6(2):024302. doi: 10.1063/1.5084140. eCollection 2019 Mar.

3.

Outcomes of infants receiving chronic peritoneal dialysis: an analysis of the USRDS registry.

Sanderson KR, Yu Y, Dai H, Willig LK, Warady BA.

Pediatr Nephrol. 2019 Jan;34(1):155-162. doi: 10.1007/s00467-018-4056-6. Epub 2018 Aug 23.

4.

Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.

Caylor RC, Grote L, Thiffault I, Farrow EG, Willig L, Soden S, Amudhavalli SM, Nopper AJ, Horii KA, Fleming E, Jenkins J, Welsh H, Ilyas M, Engleman K, Abdelmoity A, Saunders CJ.

Neurogenetics. 2018 Dec;19(4):261-262. doi: 10.1007/s10048-018-0554-8.

PMID:
29992365
5.

Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.

Caylor RC, Grote L, Thiffault I, Farrow EG, Willig L, Soden S, Amudhavalli SM, Nopper AJ, Horii KA, Fleming E, Jenkins J, Welsh H, Ilyas M, Engleman K, Abdelmoity A, Saunders CJ.

Neurogenetics. 2018 Aug;19(3):205-213. doi: 10.1007/s10048-018-0551-y. Epub 2018 Jun 20. Erratum in: Neurogenetics. 2018 Jul 11;:.

PMID:
29926239
6.

Parents Refusing Dialysis for a 3-Month-Old With Renal Failure.

Willig L, Paquette E, Hester DM, Warady BA, Lantos JD.

Pediatrics. 2018 Mar;141(3). pii: e20172096. doi: 10.1542/peds.2017-2096.

7.

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.

Petrikin JE, Cakici JA, Clark MM, Willig LK, Sweeney NM, Farrow EG, Saunders CJ, Thiffault I, Miller NA, Zellmer L, Herd SM, Holmes AM, Batalov S, Veeraraghavan N, Smith LD, Dimmock DP, Leeder JS, Kingsmore SF.

NPJ Genom Med. 2018 Feb 9;3:6. doi: 10.1038/s41525-018-0045-8. eCollection 2018.

8.

Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.

Twist GP, Gaedigk A, Miller NA, Farrow EG, Willig LK, Dinwiddie DL, Petrikin JE, Soden SE, Herd S, Gibson M, Cakici JA, Riffel AK, Leeder JS, Dinakarpandian D, Kingsmore SF.

NPJ Genom Med. 2017 Jan 11;2:16039. doi: 10.1038/npjgenmed.2016.39. eCollection 2017.

9.

Newborn Sequencing in Genomic Medicine and Public Health.

Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL.

Pediatrics. 2017 Feb;139(2). pii: e20162252. doi: 10.1542/peds.2016-2252. Epub 2017 Jan 17.

10.

Techniques and Approaches to Genetic Analyses in Nephrological Disorders.

Willig LK.

J Pediatr Genet. 2016 Mar;5(1):2-14. doi: 10.1055/s-0035-1557108. Epub 2015 Aug 13. Review.

11.

Clinical detection of deletion structural variants in whole-genome sequences.

Noll AC, Miller NA, Smith LD, Yoo B, Fiedler S, Cooley LD, Willig LK, Petrikin JE, Cakici J, Lesko J, Newton A, Detherage K, Thiffault I, Saunders CJ, Farrow EG, Kingsmore SF.

NPJ Genom Med. 2016 Aug 3;1:16026. doi: 10.1038/npjgenmed.2016.26. eCollection 2016.

12.

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.

Twist GP, Gaedigk A, Miller NA, Farrow EG, Willig LK, Dinwiddie DL, Petrikin JE, Soden SE, Herd S, Gibson M, Cakici JA, Riffel AK, Leeder JS, Dinakarpandian D, Kingsmore SF.

NPJ Genom Med. 2016 Jan 13;1:15007. doi: 10.1038/npjgenmed.2015.7. eCollection 2016. Erratum in: NPJ Genom Med. 2017 Jan 11;2:16039.

13.

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders.

Smith LD, Willig LK, Kingsmore SF.

Cold Spring Harb Perspect Med. 2015 Dec 18;6(2):a023168. doi: 10.1101/cshperspect.a023168. Review.

14.

Rapid whole genome sequencing and precision neonatology.

Petrikin JE, Willig LK, Smith LD, Kingsmore SF.

Semin Perinatol. 2015 Dec;39(8):623-31. doi: 10.1053/j.semperi.2015.09.009. Epub 2015 Oct 29. Review.

15.

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.

Miller NA, Farrow EG, Gibson M, Willig LK, Twist G, Yoo B, Marrs T, Corder S, Krivohlavek L, Walter A, Petrikin JE, Saunders CJ, Thiffault I, Soden SE, Smith LD, Dinwiddie DL, Herd S, Cakici JA, Catreux S, Ruehle M, Kingsmore SF.

Genome Med. 2015 Sep 30;7:100. doi: 10.1186/s13073-015-0221-8.

16.

Emergency medical genomes: a breakthrough application of precision medicine.

Kingsmore SF, Petrikin J, Willig LK, Guest E.

Genome Med. 2015 Jul 30;7(1):82. doi: 10.1186/s13073-015-0201-z. eCollection 2015.

17.

Renal systems biology of patients with systemic inflammatory response syndrome.

Tsalik EL, Willig LK, Rice BJ, van Velkinburgh JC, Mohney RP, McDunn JE, Dinwiddie DL, Miller NA, Mayer ES, Glickman SW, Jaehne AK, Glew RH, Sopori ML, Otero RM, Harrod KS, Cairns CB, Fowler VG, Rivers EP, Woods CW, Kingsmore SF, Langley RJ.

Kidney Int. 2015 Oct;88(4):804-14. doi: 10.1038/ki.2015.150. Epub 2015 May 20.

18.

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.

Willig LK, Petrikin JE, Smith LD, Saunders CJ, Thiffault I, Miller NA, Soden SE, Cakici JA, Herd SM, Twist G, Noll A, Creed M, Alba PM, Carpenter SL, Clements MA, Fischer RT, Hays JA, Kilbride H, McDonough RJ, Rosterman JL, Tsai SL, Zellmer L, Farrow EG, Kingsmore SF.

Lancet Respir Med. 2015 May;3(5):377-87. doi: 10.1016/S2213-2600(15)00139-3. Epub 2015 Apr 27.

19.

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Soden SE, Saunders CJ, Willig LK, Farrow EG, Smith LD, Petrikin JE, LePichon JB, Miller NA, Thiffault I, Dinwiddie DL, Twist G, Noll A, Heese BA, Zellmer L, Atherton AM, Abdelmoity AT, Safina N, Nyp SS, Zuccarelli B, Larson IA, Modrcin A, Herd S, Creed M, Ye Z, Yuan X, Brodsky RA, Kingsmore SF.

Sci Transl Med. 2014 Dec 3;6(265):265ra168. doi: 10.1126/scitranslmed.3010076.

20.

Acquisition of motor skill. IV. Effects of repeated periods of massed practice.

AMMONS RB, WILLIG L.

J Exp Psychol. 1956 Feb;51(2):118-26. No abstract available.

PMID:
13295498

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