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Items: 1 to 50 of 135

1.

Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report.

Brittain HK, Feary J, Rosenthal M, Spoudeas H; Deciphering Developmental Disorders (DDD) Study, Wilson LC.

Am J Med Genet A. 2019 Jul;179(7):1346-1350. doi: 10.1002/ajmg.a.61169. Epub 2019 May 15.

PMID:
31091003
2.

Aggression: Perspectives from social and systems neuroscience.

Kelly AM, Wilson LC.

Horm Behav. 2019 May 1. pii: S0018-506X(19)30061-3. doi: 10.1016/j.yhbeh.2019.04.010. [Epub ahead of print] Review.

PMID:
31002771
3.

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Glass GE, O'Hara J, Canham N, Cilliers D, Dunaway D, Fenwick AL, Jeelani NO, Johnson D, Lester T, Lord H, Morton JEV, Nishikawa H, Noons P, Schwiebert K, Shipster C, Taylor-Beadling A, Twigg SRF, Vasudevan P, Wall SA, Wilkie AOM, Wilson LC.

Am J Med Genet A. 2019 Apr;179(4):615-627. doi: 10.1002/ajmg.a.61073. Epub 2019 Feb 13.

4.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Calvo AS, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.

Genet Med. 2019 Jan 29. doi: 10.1038/s41436-018-0368-y. [Epub ahead of print]

PMID:
30696996
5.

Sympathetic overactivity in dialysis patients-Underappreciated and clinically consequential.

Hoye NA, Wilson LC, Jardine DL, Walker RJ.

Semin Dial. 2019 May;32(3):255-265. doi: 10.1111/sdi.12756. Epub 2018 Nov 21. Review.

PMID:
30461070
6.

The Prevalence of Military Sexual Trauma: A Meta-Analysis.

Wilson LC.

Trauma Violence Abuse. 2018 Dec;19(5):584-597. doi: 10.1177/1524838016683459. Epub 2016 Dec 16.

PMID:
30415636
7.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.

Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8. Erratum in: Genet Med. 2019 Jan 29;:.

PMID:
30349098
8.

A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.

Biebermann H, Kleinau G, Schnabel D, Bockenhauer D, Wilson LC, Tully I, Kiff S, Scheerer P, Reyes M, Paisdzior S, Gregory JW, Allgrove J, Krude H, Mannstadt M, Gardella TJ, Dattani M, Jüppner H, Grüters A.

J Clin Endocrinol Metab. 2019 Apr 1;104(4):1079-1089. doi: 10.1210/jc.2018-01250.

PMID:
30312418
9.

Neural responses to familiar conspecifics are modulated by a nonapeptide receptor in a winter flocking sparrow.

Wilson LC, Goodson JL, Kingsbury MA.

Physiol Behav. 2018 Nov 1;196:165-175. doi: 10.1016/j.physbeh.2018.09.002. Epub 2018 Sep 6.

PMID:
30196086
10.

The Indirect Effect of Child Maltreatment Severity on Adult PTSD Symptoms through Anxiety Sensitivity.

Wilson LC, Newins AR.

J Child Sex Abus. 2018 Aug-Sep;27(6):682-698. doi: 10.1080/10538712.2018.1488333. Epub 2018 Aug 1.

PMID:
30067468
11.

Rape myth acceptance and rape acknowledgment: The mediating role of sexual refusal assertiveness.

Newins AR, Wilson LC, White SW.

Psychiatry Res. 2018 May;263:15-21. doi: 10.1016/j.psychres.2018.02.029. Epub 2018 Feb 16.

PMID:
29482041
12.

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK.

Am J Med Genet A. 2018 Apr;176(4):925-935. doi: 10.1002/ajmg.a.38630. Epub 2018 Feb 13.

PMID:
29436146
13.

The Prevalence of Sexual Revictimization: A Meta-Analytic Review.

Walker HE, Freud JS, Ellis RA, Fraine SM, Wilson LC.

Trauma Violence Abuse. 2019 Jan;20(1):67-80. doi: 10.1177/1524838017692364. Epub 2017 Feb 8. Review.

PMID:
29333937
14.

Endovascular Renal Denervation in End-Stage Kidney Disease Patients: Cardiovascular Protection-A Proof-of-Concept Study.

Hoye NA, Wilson LC, Wilkins GT, Jardine DL, Putt TL, Samaranayaka A, Schollum JBW, Walker RJ.

Kidney Int Rep. 2017 May 4;2(5):856-865. doi: 10.1016/j.ekir.2017.04.012. eCollection 2017 Sep.

15.

Independent and interactive effects of incremental heat strain, orthostatic stress, and mild hypohydration on cerebral perfusion.

Lucas RAI, Wilson LC, Ainslie PN, Fan JL, Thomas KN, Cotter JD.

Am J Physiol Regul Integr Comp Physiol. 2018 Mar 1;314(3):R415-R426. doi: 10.1152/ajpregu.00109.2017. Epub 2017 Dec 6.

16.

The impact of rape acknowledgment on survivor outcomes: The moderating effects of rape myth acceptance.

Wilson LC, Newins AR, White SW.

J Clin Psychol. 2018 Jun;74(6):926-939. doi: 10.1002/jclp.22556. Epub 2017 Nov 13.

PMID:
29131332
17.

A Review of Epidemiologic Studies of the Health of Gulf War Women Veterans.

Coughlin SS, Krengel M, Sullivan K, Pierce PF, Heboyan V, Wilson LCC.

J Environ Health Sci. 2017;3(2). doi: 10.15436/2378-6841.17.1551. Epub 2017 Aug 24.

18.

The unique associations between rape acknowledgment and the DSM-5 PTSD symptom clusters.

Wilson LC, Scarpa A.

Psychiatry Res. 2017 Nov;257:290-295. doi: 10.1016/j.psychres.2017.07.055. Epub 2017 Aug 1.

PMID:
28787654
19.

Bone health and SATB2-associated syndrome.

Zarate YA, Steinraths M, Matthews A, Smith WE, Sun A, Wilson LC, Brain C, Allgove J, Jacobs B, Fish JL, Powell CM, Wasserman WW, van Karnebeek CD, Wakeling EL, Ma NS.

Clin Genet. 2018 Mar;93(3):588-594. doi: 10.1111/cge.13121. Epub 2017 Dec 27.

PMID:
28787087
20.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP.

Am J Med Genet A. 2017 Jul;173(7):1739-1746. doi: 10.1002/ajmg.a.38267. Epub 2017 May 12.

PMID:
28498505
21.

Resting heart rate variability and exercise capacity in Type 1 diabetes.

Wilson LC, Peebles KC, Hoye NA, Manning P, Sheat C, Williams MJA, Wilkins GT, Wilson GA, Baldi JC.

Physiol Rep. 2017 Apr;5(8). pii: e13248. doi: 10.14814/phy2.13248.

22.

ADHD and nonsuicidal self-injury in male veterans with and without PTSD.

Kimbrel NA, Wilson LC, Mitchell JT, Meyer EC, DeBeer BB, Silvia PJ, Gratz KL, Calhoun PS, Beckham JC, Morissette SB.

Psychiatry Res. 2017 Jun;252:161-163. doi: 10.1016/j.psychres.2017.02.015. Epub 2017 Feb 24.

23.

β-Adrenergic Responsiveness in the Type 2 Diabetic Heart: Effects on Cardiac Reserve.

Wilson GA, Wilson LC, Lamberts RR, Majeed K, Lal S, Wilkins GT, Baldi JC.

Med Sci Sports Exerc. 2017 May;49(5):907-914. doi: 10.1249/MSS.0000000000001184.

PMID:
27984428
24.
25.

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.

Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crécy-Lagard V, Mills PB, Clayton PT.

Am J Hum Genet. 2016 Dec 1;99(6):1325-1337. doi: 10.1016/j.ajhg.2016.10.011.

26.

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Miller KA, Twigg SR, McGowan SJ, Phipps JM, Fenwick AL, Johnson D, Wall SA, Noons P, Rees KE, Tidey EA, Craft J, Taylor J, Taylor JC, Goos JA, Swagemakers SM, Mathijssen IM, van der Spek PJ, Lord H, Lester T, Abid N, Cilliers D, Hurst JA, Morton JE, Sweeney E, Weber A, Wilson LC, Wilkie AO.

J Med Genet. 2017 Apr;54(4):260-268. doi: 10.1136/jmedgenet-2016-104215. Epub 2016 Nov 24.

27.

Seasonal Variation in Group Size Is Related to Seasonal Variation in Neuropeptide Receptor Density.

Wilson LC, Goodson JL, Kingsbury MA.

Brain Behav Evol. 2016;88(2):111-126. Epub 2016 Oct 28.

28.

Examining the Psychological Effect of Rape Acknowledgment: The Interaction of Acknowledgment Status and Ambivalent Sexism.

Wilson LC, Miller KE, Leheney EK, Ballman AD, Scarpa A.

J Clin Psychol. 2017 Jul;73(7):864-878. doi: 10.1002/jclp.22379. Epub 2016 Sep 9.

PMID:
27611856
29.

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Adès LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP.

Am J Hum Genet. 2016 Aug 4;99(2):392-406. doi: 10.1016/j.ajhg.2016.05.024. Epub 2016 Jul 15.

30.

Towards research-tested smartphone applications for preventing breast cancer.

Coughlin SS, Thind H, Liu B, Wilson LC.

Mhealth. 2016 Jun;2. pii: 26. Epub 2016 Jun 21.

31.

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C; WGS500 Consortium, Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS.

Am J Hum Genet. 2016 Jul 7;99(1):125-38. doi: 10.1016/j.ajhg.2016.05.019. Epub 2016 Jun 30.

32.

The Type 2 Diabetic Heart: Its Role in Exercise Intolerance and the Challenge to Find Effective Exercise Interventions.

Baldi JC, Wilson GA, Wilson LC, Wilkins GT, Lamberts RR.

Sports Med. 2016 Nov;46(11):1605-1617. doi: 10.1007/s40279-016-0542-9. Review.

PMID:
27106558
33.

Unacknowledged Rape: The Influences of Child Sexual Abuse and Personality Traits.

Wilson LC, Scarpa A.

J Child Sex Abus. 2015;24(8):975-90. doi: 10.1080/10538712.2015.1082002.

PMID:
26701285
34.

Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition.

Ashraf T, Collinson MN, Fairhurst J, Wang R, Wilson LC, Foulds N.

Am J Med Genet A. 2015 Dec;167A(12):3153-60. doi: 10.1002/ajmg.a.37336. Epub 2015 Sep 3.

PMID:
26333682
35.

A systematic review of probable posttraumatic stress disorder in first responders following man-made mass violence.

Wilson LC.

Psychiatry Res. 2015 Sep 30;229(1-2):21-6. doi: 10.1016/j.psychres.2015.06.015. Epub 2015 Jun 26. Review.

PMID:
26253760
36.

Does military sexual trauma moderate the impact of critical warzone experiences?

Wilson LC, Simmons BL, Leheney EK, Ballman AD, Meyer EC, DeBeer BB, Morissette SB, Kimbrel NA.

Psychiatry Res. 2015 Sep 30;229(1-2):596-8. doi: 10.1016/j.psychres.2015.07.023. Epub 2015 Jul 16.

37.

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

Basart H, van de Kar A, Adès L, Cho TJ, Carter E, Maas SM, Wilson LC, van der Horst CM, Wade EM, Robertson SP, Hennekam RC.

Am J Med Genet A. 2015 Jun;167(6):1215-22. doi: 10.1002/ajmg.a.37044. Epub 2015 Apr 21.

PMID:
25899317
38.

Association of mutations in FLNA with craniosynostosis.

Fennell N, Foulds N, Johnson DS, Wilson LC, Wyatt M, Robertson SP, Johnson D, Wall SA, Wilkie AO.

Eur J Hum Genet. 2015 Dec;23(12):1684-8. doi: 10.1038/ejhg.2015.31. Epub 2015 Apr 15.

39.

Religiousness and suicide in a nationally representative sample of Trinidad and Tobago adolescents and young adults.

Toussaint L, Wilson CM, Wilson LC, Williams DR.

Soc Psychiatry Psychiatr Epidemiol. 2015 Sep;50(9):1441-50. doi: 10.1007/s00127-015-1045-y. Epub 2015 Mar 25.

PMID:
25805599
40.

Meta-Analysis of the Prevalence of Unacknowledged Rape.

Wilson LC, Miller KE.

Trauma Violence Abuse. 2016 Apr;17(2):149-59. doi: 10.1177/1524838015576391. Epub 2015 Mar 17.

PMID:
25784571
41.
42.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Clayton-Smith J, Kinning E, Mansour S, Elmslie F, Goodwin L, van der Hout AH, Veenstra-Knol HE, Herkert JC, Lund AM, Hennekam RC, Mégarbané A, Lees MM, Wilson LC, Male A, Hurst J, Alanay Y, Annerén G, Betz RC, Bongers EM, Cormier-Daire V, Dieux A, David A, Elting MW, van den Ende J, Green A, van Hagen JM, Hertel NT, Holder-Espinasse M, den Hollander N, Homfray T, Hove HD, Price S, Raas-Rothschild A, Rohrbach M, Schroeter B, Suri M, Thompson EM, Tobias ES, Toutain A, Vreeburg M, Wakeling E, Knoers NV, Coucke P, Mortier GR.

Am J Med Genet A. 2015 Mar;167A(3):461-75. doi: 10.1002/ajmg.a.36922. Epub 2015 Jan 21.

PMID:
25604898
43.

Do child abuse and maternal care interact to predict military sexual trauma?

Wilson LC, Kimbrel NA, Meyer EC, Young KA, Morissette SB.

J Clin Psychol. 2015 Apr;71(4):378-86. doi: 10.1002/jclp.22143. Epub 2014 Dec 22.

44.

Mass shootings: a meta-analysis of the dose-response relationship.

Wilson LC.

J Trauma Stress. 2014 Dec;27(6):631-8. doi: 10.1002/jts.21964. Epub 2014 Nov 10.

PMID:
25385576
45.

The critical warzone experiences (CWE) scale: initial psychometric properties and association with PTSD, anxiety, and depression.

Kimbrel NA, Evans LD, Patel AB, Wilson LC, Meyer EC, Gulliver SB, Morissette SB.

Psychiatry Res. 2014 Dec 30;220(3):1118-24. doi: 10.1016/j.psychres.2014.08.053. Epub 2014 Sep 6.

46.

Family planning and the post-2015 development agenda.

Petruney T, Wilson LC, Stanback J, Cates W Jr.

Bull World Health Organ. 2014 Aug 1;92(8):548-548A. doi: 10.2471/BLT.14.142893. No abstract available.

47.

Sexual victimization history, depression, and task physiology as predictors of sexual revictimization: results from a 6-month prospective pilot study.

Waldron JC, Wilson LC, Patriquin MA, Scarpa A.

J Interpers Violence. 2015 Feb;30(4):622-39. doi: 10.1177/0886260514535258. Epub 2014 Jun 12.

PMID:
24923892
48.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA.

Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8.

49.

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, McInerney-Leo AM, Emes RD, Arts HH, Tüysüz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elçioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C; UK10K, Duncan EL, Mitchison HM.

Am J Hum Genet. 2013 Nov 7;93(5):932-44. doi: 10.1016/j.ajhg.2013.10.003. Epub 2013 Oct 31.

50.

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.

Cappello S, Gray MJ, Badouel C, Lange S, Einsiedler M, Srour M, Chitayat D, Hamdan FF, Jenkins ZA, Morgan T, Preitner N, Uster T, Thomas J, Shannon P, Morrison V, Di Donato N, Van Maldergem L, Neuhann T, Newbury-Ecob R, Swinkells M, Terhal P, Wilson LC, Zwijnenburg PJ, Sutherland-Smith AJ, Black MA, Markie D, Michaud JL, Simpson MA, Mansour S, McNeill H, Götz M, Robertson SP.

Nat Genet. 2013 Nov;45(11):1300-8. doi: 10.1038/ng.2765. Epub 2013 Sep 22.

PMID:
24056717

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