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Items: 1 to 50 of 517

1.

A visual illusion that influences perception and action through the dorsal pathway.

de la Malla C, Brenner E, de Haan EHF, Smeets JBJ.

Commun Biol. 2019 Jan 28;2(1):38. doi: 10.1038/s42003-019-0293-x.

PMID:
31924913
2.

Unified tactile detection and localisation in split-brain patients.

de Haan EHF, Fabri M, Dijkerman HC, Foschi N, Lattanzi S, Pinto Y.

Cortex. 2019 Dec 7;124:217-223. doi: 10.1016/j.cortex.2019.11.010. [Epub ahead of print] Review.

3.

Translation, cross-cultural and construct validity of the Dutch-Flemish PROMIS® upper extremity item bank v2.0.

Haan EA, Terwee CB, Van Wier MF, Willigenburg NW, Van Deurzen DFP, Pisters MF, Kaat AJ, Roorda LD.

Qual Life Res. 2020 Jan 1. doi: 10.1007/s11136-019-02388-2. [Epub ahead of print]

PMID:
31894506
4.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM.

Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26.

5.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.

Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K.

Sci Adv. 2019 Sep 25;5(9):eaax2166. doi: 10.1126/sciadv.aax2166. eCollection 2019 Sep.

6.

Testing Mediators of Youth Intervention Outcomes Using Single-Case Experimental Designs.

Geuke GGM, Maric M, Miočević M, Wolters LH, de Haan E.

New Dir Child Adolesc Dev. 2019 Sep;2019(167):39-64. doi: 10.1002/cad.20310. Epub 2019 Sep 11. Review.

7.

A shrunken world - micropsia after a right occipito-parietal ischemic stroke.

Van Den Berg NS, Huitema RB, Spikman JM, Van Laar PJ, De Haan EHF.

Neurocase. 2019 Oct;25(5):202-208. doi: 10.1080/13554794.2019.1656751. Epub 2019 Aug 28.

PMID:
31462163
8.

Fetal methotrexate syndrome: A systematic review of case reports.

Verberne EA, de Haan E, van Tintelen JP, Lindhout D, van Haelst MM.

Reprod Toxicol. 2019 Aug;87:125-139. doi: 10.1016/j.reprotox.2019.05.066. Epub 2019 Jun 8. Review.

9.

Clinical and molecular spectrum of CHOPS syndrome.

Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K.

Am J Med Genet A. 2019 Jul;179(7):1126-1138. doi: 10.1002/ajmg.a.61174. Epub 2019 May 6.

PMID:
31058441
10.

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.

Saoura M, Powell CA, Kopajtich R, Alahmad A, Al-Balool HH, Albash B, Alfadhel M, Alston CL, Bertini E, Bonnen PE, Bratkovic D, Carrozzo R, Donati MA, Di Nottia M, Ghezzi D, Goldstein A, Haan E, Horvath R, Hughes J, Invernizzi F, Lamantea E, Lucas B, Pinnock KG, Pujantell M, Rahman S, Rebelo-Guiomar P, Santra S, Verrigni D, McFarland R, Prokisch H, Taylor RW, Levinger L, Minczuk M.

Hum Mutat. 2019 Oct;40(10):1731-1748. doi: 10.1002/humu.23777. Epub 2019 Jun 18.

PMID:
31045291
11.

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.

12.

A new cognitive behavior therapy for adolescents with avoidant/restrictive food intake disorder in a day treatment setting: A clinical case series.

Dumont E, Jansen A, Kroes D, de Haan E, Mulkens S.

Int J Eat Disord. 2019 Apr;52(4):447-458. doi: 10.1002/eat.23053. Epub 2019 Feb 25.

13.

Plasticity versus chronicity: Stable performance on category fluency 40 years post-onset.

de Haan EHF, Seijdel N, Kentridge RW, Heywood CA.

J Neuropsychol. 2019 Feb 15. doi: 10.1111/jnp.12180. [Epub ahead of print]

PMID:
30768853
14.

A visual illusion that influences perception and action through the dorsal pathway.

de la Malla C, Brenner E, de Haan EHF, Smeets JBJ.

Commun Biol. 2019 Jan 28;2:38. doi: 10.1038/s42003-019-0293-x. eCollection 2019.

15.

Assessment of myocardial oxygenation, strain, and diastology in MYBPC3-related hypertrophic cardiomyopathy: a cardiovascular magnetic resonance and echocardiography study.

Grover S, Lloyd R, Perry R, Lou PW, Haan E, Yeates L, Woodman R, Atherton JJ, Semsarian C, Selvanayagam JB.

Eur Heart J Cardiovasc Imaging. 2019 Aug 1;20(8):932-938. doi: 10.1093/ehjci/jey220.

PMID:
30668650
16.

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.

Vegas N, Cavallin M, Maillard C, Boddaert N, Toulouse J, Schaefer E, Lerman-Sagie T, Lev D, Magalie B, Moutton S, Haan E, Isidor B, Heron D, Milh M, Rondeau S, Michot C, Valence S, Wagner S, Hully M, Mignot C, Masurel A, Datta A, Odent S, Nizon M, Lazaro L, Vincent M, Cogné B, Guerrot AM, Arpin S, Pedespan JM, Caubel I, Pontier B, Troude B, Rivier F, Philippe C, Bienvenu T, Spitz MA, Bery A, Bahi-Buisson N.

Neurol Genet. 2018 Nov 7;4(6):e281. doi: 10.1212/NXG.0000000000000281. eCollection 2018 Dec.

17.

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.

18.

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.

Dagar V, Hutchison W, Muscat A, Krishnan A, Hoke D, Buckle A, Siswara P, Amor DJ, Mann J, Pinner J, Colley A, Wilson M, Sachdev R, McGillivray G, Edwards M, Kirk E, Collins F, Jones K, Taylor J, Hayes I, Thompson E, Barnett C, Haan E, Freckmann ML, Turner A, White S, Kamien B, Ma A, Mackenzie F, Baynam G, Kiraly-Borri C, Field M, Dudding-Byth T, Algar EM.

Clin Epigenetics. 2018 Aug 30;10(1):114. doi: 10.1186/s13148-018-0546-4.

19.

Mediating Mechanisms in Cognitive Behavioral Therapy for Childhood OCD: The Role of Dysfunctional Beliefs.

Wolters LH, Prins PJM, Garst GJA, Hogendoorn SM, Boer F, Vervoort L, de Haan E.

Child Psychiatry Hum Dev. 2019 Apr;50(2):173-185. doi: 10.1007/s10578-018-0830-8.

20.

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.

Cox LL, Cox TC, Moreno Uribe LM, Zhu Y, Richter CT, Nidey N, Standley JM, Deng M, Blue E, Chong JX, Yang Y, Carstens RP, Anand D, Lachke SA, Smith JD, Dorschner MO, Bedell B, Kirk E, Hing AV, Venselaar H, Valencia-Ramirez LC, Bamshad MJ, Glass IA, Cooper JA, Haan E, Nickerson DA, van Bokhoven H, Zhou H, Krahn KN, Buckley MF, Murray JC, Lidral AC, Roscioli T.

Am J Hum Genet. 2018 Jun 7;102(6):1143-1157. doi: 10.1016/j.ajhg.2018.04.009. Epub 2018 May 24.

21.

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.

Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM.

Mol Psychiatry. 2019 Nov;24(11):1748-1768. doi: 10.1038/s41380-018-0065-x. Epub 2018 May 4.

PMID:
29728705
22.

Eight-year follow-up of a randomized clinical trial comparing ultrasound-guided foam sclerotherapy with surgical stripping of the great saphenous vein.

Lam YL, Lawson JA, Toonder IM, Shadid NH, Sommer A, Veenstra M, van der Kleij AMJ, Ceulen RP, de Haan E, Ibrahim F, van Dooren T, Nieman FH, Wittens CHA.

Br J Surg. 2018 May;105(6):692-698. doi: 10.1002/bjs.10762.

PMID:
29652081
23.

Action blindsight and antipointing in a hemianopic patient.

Smits AR, Seijdel N, Scholte HS, Heywood CA, Kentridge RW, de Haan EHF.

Neuropsychologia. 2019 May;128:270-275. doi: 10.1016/j.neuropsychologia.2018.03.029. Epub 2018 Mar 28.

24.

A comparison of visual working memory and episodic memory performance in younger and older adults.

Lugtmeijer S, de Haan EHF, Kessels RPC.

Neuropsychol Dev Cogn B Aging Neuropsychol Cogn. 2019 May;26(3):387-406. doi: 10.1080/13825585.2018.1451480. Epub 2018 Mar 20.

PMID:
29557261
25.

Where are we now with 'What' and 'How'?

de Haan EHF, Jackson SR, Schenk T.

Cortex. 2018 Jan;98:1-7. doi: 10.1016/j.cortex.2017.12.001. Epub 2017 Dec 13. No abstract available.

PMID:
29290335
26.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

Lee E, Le T, Zhu Y, Elakis G, Turner A, Lo W, Venselaar H, Verrenkamp CA, Snow N, Mowat D, Kirk EP, Sachdev R, Smith J, Brown NJ, Wallis M, Barnett C, McKenzie F, Freckmann ML, Collins F, Chopra M, Gregersen N, Hayes I, Rajagopalan S, Tan TY, Stark Z, Savarirayan R, Yeung A, Adès L, Gattas M, Gibson K, Gabbett M, Amor DJ, Lattanzi W, Boyd S, Haan E, Gianoutsos M, Cox TC, Buckley MF, Roscioli T.

Genet Med. 2018 Sep;20(9):1061-1068. doi: 10.1038/gim.2017.214. Epub 2017 Dec 7.

PMID:
29215649
27.

Visual pathways from the perspective of cost functions and multi-task deep neural networks.

Scholte HS, Losch MM, Ramakrishnan K, de Haan EHF, Bohte SM.

Cortex. 2018 Jan;98:249-261. doi: 10.1016/j.cortex.2017.09.019. Epub 2017 Oct 7. Review.

PMID:
29150140
28.

Cross-cueing cannot explain unified control in split-brain patients.

Pinto Y, Lamme VAF, de Haan EHF.

Brain. 2017 Nov 1;140(11):e68. doi: 10.1093/brain/awx235. No abstract available.

PMID:
29053765
29.

The Split-Brain Phenomenon Revisited: A Single Conscious Agent with Split Perception.

Pinto Y, de Haan EHF, Lamme VAF.

Trends Cogn Sci. 2017 Nov;21(11):835-851. doi: 10.1016/j.tics.2017.09.003. Epub 2017 Sep 25. Review.

PMID:
28958646
30.

Psychological factors addressed in cognitive behaviour therapy for paediatric functional abdominal pain: Which are most important to target?

van der Veek SM, de Haan E, Derkx H, Benninga MA, Boer F.

J Health Psychol. 2019 Aug;24(9):1282-1292. doi: 10.1177/1359105317694488. Epub 2017 Feb 1.

PMID:
28810423
31.

No Evidence of Narrowly Defined Cognitive Penetrability in Unambiguous Vision.

Lammers NA, de Haan EH, Pinto Y.

Front Psychol. 2017 Jul 10;8:852. doi: 10.3389/fpsyg.2017.00852. eCollection 2017.

32.

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjöld M, Gecz J, Xia K, Zweifel LS, Eichler EE.

Nat Neurosci. 2017 Aug;20(8):1043-1051. doi: 10.1038/nn.4589. Epub 2017 Jun 19.

33.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.

Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA.

Am J Hum Genet. 2017 Jun 1;100(6):907-925. doi: 10.1016/j.ajhg.2017.05.006.

34.

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).

Javadiyan S, Craig JE, Sharma S, Lower KM, Casey T, Haan E, Souzeau E, Burdon KP.

BMC Med Genet. 2017 May 8;18(1):52. doi: 10.1186/s12881-017-0414-7.

35.

Professional identity in clinician-scientists: brokers between care and science.

Kluijtmans M, de Haan E, Akkerman S, van Tartwijk J.

Med Educ. 2017 Jun;51(6):645-655. doi: 10.1111/medu.13241. Epub 2017 Feb 28.

36.

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE.

Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13.

37.

Split brain: divided perception but undivided consciousness.

Pinto Y, Neville DA, Otten M, Corballis PM, Lamme VAF, de Haan EHF, Foschi N, Fabri M.

Brain. 2017 May 1;140(5):1231-1237. doi: 10.1093/brain/aww358.

PMID:
28122878
38.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, Delgado MR, Sirsi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S; DDD Study, Cobben JM, Duijkers FAM, Goehringer JM, Challman TD, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gecz J, Field M, Kalscheuer VM.

Mol Psychiatry. 2018 Feb;23(2):222-230. doi: 10.1038/mp.2016.135. Epub 2016 Aug 23.

39.

Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures.

Crawford A, Moore L, Bennett G, Savarirayan R, Manton N, Khong Y, Barnett CP, Haan E.

Am J Med Genet A. 2016 Nov;170(11):2960-2964. doi: 10.1002/ajmg.a.37856. Epub 2016 Aug 2.

PMID:
27481052
40.

Is there a Role for Genetic Counselors in Prenatal Paternity Testing? - an Assessment Based on Audit of 13 years of Clinical Experience in South Australia.

Riley KE, Salvemini H, Haan E, Fitzgerald L, Stallard K, Borrie S, Pontikinas E, Baxendale A.

J Genet Couns. 2017 Feb;26(1):159-172. doi: 10.1007/s10897-016-9994-1. Epub 2016 Jul 21.

PMID:
27443149
41.

Age range for inclusion affects ascertainment by birth defects registers.

Gibson CS, Scott H, Haan E, Scheil W.

Birth Defects Res A Clin Mol Teratol. 2016 Sep;106(9):761-6. doi: 10.1002/bdra.23534. Epub 2016 Jun 21.

PMID:
27324669
42.

A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.

Gray B, Bagnall RD, Lam L, Ingles J, Turner C, Haan E, Davis A, Yang PC, Clancy CE, Sy RW, Semsarian C.

Heart Rhythm. 2016 Aug;13(8):1652-60. doi: 10.1016/j.hrthm.2016.05.004. Epub 2016 May 5.

43.

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

Kumar R, Corbett MA, Van Bon BW, Gardner A, Woenig JA, Jolly LA, Douglas E, Friend K, Tan C, Van Esch H, Holvoet M, Raynaud M, Field M, Leffler M, Budny B, Wisniewska M, Badura-Stronka M, Latos-Bieleńska A, Batanian J, Rosenfeld JA, Basel-Vanagaite L, Jensen C, Bienek M, Froyen G, Ullmann R, Hu H, Love MI, Haas SA, Stankiewicz P, Cheung SW, Baxendale A, Nicholl J, Thompson EM, Haan E, Kalscheuer VM, Gecz J.

Hum Mol Genet. 2015 Dec 20;24(25):7171-81. doi: 10.1093/hmg/ddv414. Epub 2015 Oct 6.

PMID:
26443594
44.

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium, Hurles M, Raymond FL.

Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30.

45.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

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Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

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Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

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Augmentation of Treatment As Usual with online Cognitive Bias Modification of Interpretation training in adolescents with Obsessive Compulsive Disorder: A pilot study.

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Mol Psychiatry. 2016 Jan;21(1):126-32. doi: 10.1038/mp.2015.5. Epub 2015 Feb 24.

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