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Items: 16

1.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.

Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. No abstract available.

2.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.

Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Erratum in: Am J Hum Genet. 2019 Mar 7;104(3):562.

3.

Noninvasive Prenatal Genetic Screening Using Cell-free DNA.

Allyse MA, Wick MJ.

JAMA. 2018 Aug 14;320(6):591-592. doi: 10.1001/jama.2018.9418. No abstract available.

PMID:
30073283
4.

Increasing genetic counseling referral rates through bundled interventions after ovarian cancer diagnosis.

Swanson CL, Kumar A, Maharaj JM, Kemppainen JL, Thomas BC, Weinhold MR, Slaby KM, Mara KC, Wick MJ, Bakkum-Gamez JN.

Gynecol Oncol. 2018 Apr;149(1):121-126. doi: 10.1016/j.ygyno.2018.01.033. Epub 2018 Feb 3.

PMID:
29402500
5.

What do the new American College of Medical Genetics and Genomics (ACMG) guidelines mean for the provision of non-invasive prenatal genetic screening?

Allyse M, Wick MJ.

J Obstet Gynaecol. 2017 Aug;37(6):795-798. doi: 10.1080/01443615.2017.1291597. Epub 2017 Apr 1.

PMID:
28366031
6.

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017.

Daly MB, Pilarski R, Berry M, Buys SS, Farmer M, Friedman S, Garber JE, Kauff ND, Khan S, Klein C, Kohlmann W, Kurian A, Litton JK, Madlensky L, Merajver SD, Offit K, Pal T, Reiser G, Shannon KM, Swisher E, Vinayak S, Voian NC, Weitzel JN, Wick MJ, Wiesner GL, Dwyer M, Darlow S.

J Natl Compr Canc Netw. 2017 Jan;15(1):9-20.

PMID:
28040716
7.

Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.

Boczek NJ, Sigafoos AN, Zimmermann MT, Maus RL, Cousin MA, Blackburn PR, Urrutia R, Clark KJ, Patterson MC, Wick MJ, Klee EW.

Clin Case Rep. 2016 Aug 15;4(9):885-95. doi: 10.1002/ccr3.655. eCollection 2016 Sep.

8.

False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13.

Cao Y, Hoppman NL, Kerr SE, Sattler CA, Borowski KS, Wick MJ, Highsmith WE, Aypar U.

Case Rep Genet. 2016;2016:7397405. doi: 10.1155/2016/7397405. Epub 2016 Feb 22.

9.

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.

Lazaridis KN, Schahl KA, Cousin MA, Babovic-Vuksanovic D, Riegert-Johnson DL, Gavrilova RH, McAllister TM, Lindor NM, Abraham RS, Ackerman MJ, Pichurin PN, Deyle DR, Gavrilov DK, Hand JL, Klee EW, Stephens MC, Wick MJ, Atkinson EJ, Linden DR, Ferber MJ, Wieben ED, Farrugia G; Individualized Medicine Clinic Members.

Mayo Clin Proc. 2016 Mar;91(3):297-307. doi: 10.1016/j.mayocp.2015.12.018.

PMID:
26944241
10.

Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015.

Daly MB, Pilarski R, Axilbund JE, Berry M, Buys SS, Crawford B, Farmer M, Friedman S, Garber JE, Khan S, Klein C, Kohlmann W, Kurian A, Litton JK, Madlensky L, Marcom PK, Merajver SD, Offit K, Pal T, Rana H, Reiser G, Robson ME, Shannon KM, Swisher E, Voian NC, Weitzel JN, Whelan A, Wick MJ, Wiesner GL, Dwyer M, Kumar R, Darlow S.

J Natl Compr Canc Netw. 2016 Feb;14(2):153-62.

PMID:
26850485
11.

Predicting vaginal birth after cesarean section: a cohort study.

Tessmer-Tuck JA, El-Nashar SA, Racek AR, Lohse CM, Famuyide AO, Wick MJ.

Gynecol Obstet Invest. 2014;77(2):121-6. doi: 10.1159/000357757. Epub 2014 Feb 11.

12.

Challenging and complex decisions in the management of the BRCA mutation carrier.

Stan DL, Shuster LT, Wick MJ, Swanson CL, Pruthi S, Bakkum-Gamez JN.

J Womens Health (Larchmt). 2013 Oct;22(10):825-34. doi: 10.1089/jwh.2013.4407. Epub 2013 Aug 29. Review.

13.

Long QT syndrome-associated mutations in intrauterine fetal death.

Crotti L, Tester DJ, White WM, Bartos DC, Insolia R, Besana A, Kunic JD, Will ML, Velasco EJ, Bair JJ, Ghidoni A, Cetin I, Van Dyke DL, Wick MJ, Brost B, Delisle BP, Facchinetti F, George AL, Schwartz PJ, Ackerman MJ.

JAMA. 2013 Apr 10;309(14):1473-82. doi: 10.1001/jama.2013.3219.

14.

Primary appendiceal mucinous adenocarcinoma in two first-degree relatives: case report and review.

Racek AR, Rabe KG, Wick MJ, Psychogios A, Lindor NM.

Hered Cancer Clin Pract. 2011 May 4;9(1):1. doi: 10.1186/1897-4287-9-1.

15.

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

Mao R, Aylsworth AS, Potter N, Wilson WG, Breningstall G, Wick MJ, Babovic-Vuksanovic D, Nance M, Patterson MC, Gomez CM, Snow K.

Am J Med Genet. 2002 Jul 15;110(4):338-45.

PMID:
12116207
16.

The molecular characterization of fatal infectious mononucleosis.

Wick MJ, Woronzoff-Dashkoff KP, McGlennen RC.

Am J Clin Pathol. 2002 Apr;117(4):582-8.

PMID:
11939733

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