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Items: 1 to 50 of 458

1.

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

van der Sluijs EPJ, 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, Mujgan Sonmez F, 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. 2018 Nov 8. doi: 10.1038/s41436-018-0330-z. [Epub ahead of print]

PMID:
30349098
2.

Cognitive and behavioural changes in PLS and PMA:challenging the concept of restricted phenotypes.

de Vries BS, Rustemeijer LMM, Bakker LA, Schröder CD, Veldink JH, van den Berg LH, Nijboer TCW, van Es MA.

J Neurol Neurosurg Psychiatry. 2018 Aug 3. pii: jnnp-2018-318788. doi: 10.1136/jnnp-2018-318788. [Epub ahead of print]

PMID:
30076267
3.

Noradrenergic and Cholinergic Modulation of Belief Updating.

Jepma M, Brown SBRE, Murphy PR, Koelewijn SC, de Vries B, van den Maagdenberg AM, Nieuwenhuis S.

J Cogn Neurosci. 2018 Jul 31:1-18. doi: 10.1162/jocn_a_01317. [Epub ahead of print]

PMID:
30063180
4.

Gonadal steroid levels in rock pigeon eggs do not represent adequately maternal allocation.

Kumar N, van Faassen M, de Vries B, Kema I, Gahr M, Groothuis TGG.

Sci Rep. 2018 Jul 25;8(1):11213. doi: 10.1038/s41598-018-29478-4.

5.

Neural correlates of exercise training in individuals with schizophrenia and in healthy individuals: A systematic review.

van der Stouwe ECD, van Busschbach JT, de Vries B, Cahn W, Aleman A, Pijnenborg GHM.

Neuroimage Clin. 2018 Apr 21;19:287-301. doi: 10.1016/j.nicl.2018.04.018. eCollection 2018. Review.

6.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D; Deciphering Developmental Disorders Study, Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM.

Am J Hum Genet. 2018 Jun 7;102(6):1195-1203. doi: 10.1016/j.ajhg.2018.04.014. Epub 2018 May 31.

7.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.

Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium, Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF.

Biol Psychiatry. 2018 Mar 15. pii: S0006-3223(18)31303-9. doi: 10.1016/j.biopsych.2018.02.1173. [Epub ahead of print]

PMID:
29724491
8.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ.

Am J Hum Genet. 2018 May 3;102(5):985-994. doi: 10.1016/j.ajhg.2018.03.004. Epub 2018 Apr 12.

9.

Medical management of miscarriage: Predictive factors of success.

Lusink V, Wong C, de Vries B, Ludlow J.

Aust N Z J Obstet Gynaecol. 2018 Oct;58(5):590-593. doi: 10.1111/ajo.12808. Epub 2018 Apr 6.

PMID:
29624638
10.

Validation of a New Methodology to Determine 3-Dimensional Endograft Apposition, Position, and Expansion in the Aortic Neck After Endovascular Aneurysm Repair.

Schuurmann RCL, Overeem SP, van Noort K, de Vries BA, Slump CH, de Vries JPM.

J Endovasc Ther. 2018 Jun;25(3):358-365. doi: 10.1177/1526602818764413. Epub 2018 Apr 6.

PMID:
29623767
11.

Prevalence Rate and Risk Factors of Victimization in Adult Patients With a Psychotic Disorder: A Systematic Review and Meta-analysis.

de Vries B, van Busschbach JT, van der Stouwe ECD, Aleman A, van Dijk JJM, Lysaker PH, Arends J, Nijman SA, Pijnenborg GHM.

Schizophr Bull. 2018 Mar 14. doi: 10.1093/schbul/sby020. [Epub ahead of print]

PMID:
29547958
12.

Is sonographically measured cervical length at 37 weeks of gestation associated with intrapartum cesarean section? A prospective cohort study.

de Vries B, Narayan R, McGeechan K, Santiagu S, Vairavan R, Burke M, Phipps H, Hyett J.

Acta Obstet Gynecol Scand. 2018 Jun;97(6):668-676. doi: 10.1111/aogs.13310. Epub 2018 Feb 28.

PMID:
29450884
13.

Population attributable fractions of perinatal outcomes for nulliparous women associated with overweight and obesity, 1990-2014.

Cheney K, Farber R, Barratt AL, McGeechan K, de Vries B, Ogle R, Black KI.

Med J Aust. 2018 Feb 19;208(3):119-125.

PMID:
29438637
14.

The graphical brain: Belief propagation and active inference.

Friston KJ, Parr T, de Vries B.

Netw Neurosci. 2017;1(4):381-414. doi: 10.1162/NETN_a_00018. Epub 2017 Dec 31.

15.

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.

van den Akker WMR, Brummelman I, Martis LM, Timmermans RN, Pfundt R, Kleefstra T, Willemsen MH, Gerkes EH, Herkert JC, van Essen AJ, Rump P, Vansenne F, Terhal PA, van Haelst MM, Cristian I, Turner CE, Cho MT, Begtrup A, Willaert R, Fassi E, van Gassen KLI, Stegmann APA, de Vries BBA, Schuurs-Hoeijmakers JHM.

Clin Genet. 2018 May;93(5):1000-1007. doi: 10.1111/cge.13225.

PMID:
29393965
16.

CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.

Verkerk AJMH, Zeidler S, Breedveld G, Overbeek L, Huigh D, Koster L, van der Linde H, de Esch C, Severijnen LA, de Vries BBA, Swagemakers SMA, Willemsen R, Hoogeboom AJM, van der Spek PJ, Oostra BA.

Eur J Hum Genet. 2018 Apr;26(4):552-560. doi: 10.1038/s41431-017-0051-9. Epub 2018 Jan 26.

PMID:
29374277
17.

Is ultrasound measured fetal biometry predictive of intrapartum caesarean section for failure to progress?

Yang JM, Hyett JA, Mcgeechan K, Phipps H, de Vries BS.

Aust N Z J Obstet Gynaecol. 2018 Jan 22. doi: 10.1111/ajo.12776. [Epub ahead of print]

PMID:
29355895
18.

Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation.

Pelzer N, Haan J, Stam AH, Vijfhuizen LS, Koelewijn SC, Smagge A, de Vries B, Ferrari MD, van den Maagdenberg AMJM, Terwindt GM.

Neurology. 2018 Feb 13;90(7):e575-e582. doi: 10.1212/WNL.0000000000004966. Epub 2018 Jan 17.

PMID:
29343472
19.

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability.

Dudding-Byth T, Baxter A, Holliday EG, Hackett A, O'Donnell S, White SM, Attia J, Brunner H, de Vries B, Koolen D, Kleefstra T, Ratwatte S, Riveros C, Brain S, Lovell BC.

BMC Biotechnol. 2017 Dec 19;17(1):90. doi: 10.1186/s12896-017-0410-1.

20.

Epidemic of large babies highlighted by use of INTERGROWTH21st international standard.

Park FJ, de Vries B, Hyett JA, Gordon A.

Aust N Z J Obstet Gynaecol. 2018 Oct;58(5):506-513. doi: 10.1111/ajo.12748. Epub 2017 Dec 8.

PMID:
29218703
21.

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, Hackett A, Kleefstra T, Koolen D, Kvarnung M, Larsen MJ, Marcelis C, McKenzie F, Monin ML, Nava C, Schuurs-Hoeijmakers JH, Pfundt R, Steehouwer M, Stevens SJC, Stumpel CT, Vansenne F, Vinci M, van de Vorst M, Vries P, Witherspoon K, Veltman JA, Brunner HG, Mefford HC, Romano C, Vissers LELM, Eichler EE, de Vries BBA.

Eur J Hum Genet. 2018 Jan;26(1):54-63. doi: 10.1038/s41431-017-0039-5. Epub 2017 Dec 5.

PMID:
29209020
22.

WAC-Related Intellectual Disability.

Varvagiannis K, de Vries BBA, Vissers LELM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2017 Nov 30.

23.

Couple-level Minority Stress: An Examination of Same-sex Couples' Unique Experiences.

Frost DM, LeBlanc AJ, de Vries B, Alston-Stepnitz E, Stephenson R, Woodyatt C.

J Health Soc Behav. 2017 Dec;58(4):455-472. doi: 10.1177/0022146517736754. Epub 2017 Oct 16.

PMID:
29172770
24.

δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy.

van Rootselaar AF, Groffen AJ, de Vries B, Callenbach PMC, Santen GWE, Koelewijn S, Vijfhuizen LS, Buijink A, Tijssen MAJ, van den Maagdenberg AMJM.

Neurology. 2017 Dec 5;89(23):2341-2350. doi: 10.1212/WNL.0000000000004709. Epub 2017 Nov 10.

PMID:
29127138
25.

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.

Lamers IJC, Reijnders MRF, Venselaar H, Kraus A; DDD Study, Jansen S, de Vries BBA, Houge G, Gradek GA, Seo J, Choi M, Chae JH, van der Burgt I, Pfundt R, Letteboer SJF, van Beersum SEC, Dusseljee S, Brunner HG, Doherty D, Kleefstra T, Roepman R.

Am J Hum Genet. 2017 Nov 2;101(5):824-832. doi: 10.1016/j.ajhg.2017.09.015. Epub 2017 Oct 26.

26.

A Factor Graph Description of Deep Temporal Active Inference.

de Vries B, Friston KJ.

Front Comput Neurosci. 2017 Oct 18;11:95. doi: 10.3389/fncom.2017.00095. eCollection 2017.

27.

Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome.

van Amen-Hellebrekers CJM, Jansen S, Stegmann APA, Stevens SJC, Pfundt R, de Vries BBA.

Am J Med Genet A. 2017 Dec;173(12):3238-3240. doi: 10.1002/ajmg.a.38396. Epub 2017 Oct 19. No abstract available.

PMID:
29048725
28.

Diagnostic performance of gadofosveset-enhanced axillary MRI for nodal (re)staging in breast cancer patients: results of a validation study.

van Nijnatten TJA, Schipper RJ, Lobbes MBI, van Roozendaal LM, Vöö S, Moossdorff M, Paiman ML, de Vries B, Keymeulen KBMI, Wildberger JE, Smidt ML, Beets-Tan RGH.

Clin Radiol. 2018 Feb;73(2):168-175. doi: 10.1016/j.crad.2017.09.005. Epub 2017 Oct 10.

PMID:
29029766
29.

Re: Intrapartum intervention rates and perinatal outcomes following induction of labour compared to expectant management at term from an Australian perinatal centre.

de Vries B.

Aust N Z J Obstet Gynaecol. 2017 Oct;57(5):E9. doi: 10.1111/ajo.12658. No abstract available.

PMID:
28967685
30.

Does previous caesarean section at full dilatation increase the likelihood of subsequent spontaneous preterm birth?

Cong A, de Vries B, Ludlow J.

Aust N Z J Obstet Gynaecol. 2018 Jun;58(3):267-273. doi: 10.1111/ajo.12713. Epub 2017 Sep 28.

PMID:
28960252
31.

Fly Thru imaging: Feasibility study and comparison with outpatient hysteroscopy.

Rajendran S, Mogra R, Li Y, de Vries B, Hyett J.

Aust N Z J Obstet Gynaecol. 2017 Dec;57(6):659-664. doi: 10.1111/ajo.12687. Epub 2017 Aug 30.

PMID:
28856666
32.

TRIO-Related Intellectual Disability.

Varvagiannis K, Vissers LELM, Baralle D, de Vries BBA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2017 Aug 10.

33.

CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Chen CA, Bosch DGM, Cho ScM MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FPM, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BBA, Schaaf C.

Genet Med. 2017 Aug;19(8):962. doi: 10.1038/gim.2017.12.

PMID:
28777376
34.

Aging Perceptions in Older Gay and Bisexual Men in Portugal: A Qualitative Study.

Pereira H, Serrano JP, de Vries B, Esgalhado G, Afonso RM, Monteiro S.

Int J Aging Hum Dev. 2018 Jul;87(1):5-32. doi: 10.1177/0091415017720889. Epub 2017 Jul 27.

PMID:
28748709
35.

A case series of PLS patients with frontotemporal dementia and overview of the literature.

de Vries BS, Rustemeijer LMM, van der Kooi AJ, Raaphorst J, Schröder CD, Nijboer TCW, Hendrikse J, Veldink JH, van den Berg LH, van Es MA.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Nov;18(7-8):534-548. doi: 10.1080/21678421.2017.1354996. Epub 2017 Jul 26. Review.

PMID:
28745069
36.

Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.

Arbogast T, Iacono G, Chevalier C, Afinowi NO, Houbaert X, van Eede MC, Laliberte C, Birling MC, Linda K, Meziane H, Selloum M, Sorg T, Nadif Kasri N, Koolen DA, Stunnenberg HG, Henkelman RM, Kopanitsa M, Humeau Y, De Vries BBA, Herault Y.

PLoS Genet. 2017 Jul 13;13(7):e1006886. doi: 10.1371/journal.pgen.1006886. eCollection 2017 Jul.

37.

Searching for Biosignatures in Exoplanetary Impact Ejecta.

Cataldi G, Brandeker A, Thébault P, Singer K, Ahmed E, de Vries BL, Neubeck A, Olofsson G.

Astrobiology. 2017 Aug;17(8):721-746. doi: 10.1089/ast.2015.1437. Epub 2017 Jul 10.

PMID:
28692303
38.

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.

Marom R, Jain M, Burrage LC, Song IW, Graham BH, Brown CW, Stevens SJC, Stegmann APA, Gunter AT, Kaplan JD, Gavrilova RH, Shinawi M, Rosenfeld JA, Bae Y, Tran AA, Chen Y, Lu JT, Gibbs RA, Eng C, Yang Y, Rousseau J, de Vries BBA, Campeau PM, Lee B.

Hum Mutat. 2017 Oct;38(10):1365-1371. doi: 10.1002/humu.23282. Epub 2017 Jul 10.

39.

Phase-locked and non-phase-locked EEG responses to pinprick stimulation before and after experimentally-induced secondary hyperalgesia.

van den Broeke EN, de Vries B, Lambert J, Torta DM, Mouraux A.

Clin Neurophysiol. 2017 Aug;128(8):1445-1456. doi: 10.1016/j.clinph.2017.05.006. Epub 2017 May 19.

PMID:
28618295
40.

The Relationship Timeline: A Method for the Study of Shared Lived Experiences in Relational Contexts.

de Vries B, LeBlanc AJ, Frost DM, Alston-Stepnitz E, Stephenson R, Woodyatt C.

Adv Life Course Res. 2017 Jun;32:55-64. doi: 10.1016/j.alcr.2016.07.002. Epub 2016 Jul 25.

41.

A New Approach to Developing Birth Weight Reference Charts: A Retrospective Observational Study.

Joseph FA, Hyett JA, McGeechan K, Schluter PJ, Gordon A, McLennan A, De Vries BS.

Fetal Diagn Ther. 2018;43(2):148-155. doi: 10.1159/000475662. Epub 2017 Jun 3.

PMID:
28578346
42.

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.

43.

Reply to Neonatal head circumference and computed tomography pelvimetry could be useful counselling tools after caesarean section for failure to progress.

de Vries B, Bryce B, Zandanova T, Ting J, Kelly P, Phipps H, Hyett JA.

Aust N Z J Obstet Gynaecol. 2017 Jun;57(3):E3. doi: 10.1111/ajo.12636. No abstract available.

PMID:
28573697
44.

The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.

Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE.

Epilepsia. 2017 Jun;58(6):1085-1094. doi: 10.1111/epi.13746. Epub 2017 Apr 25.

45.

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenço C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW.

PLoS Genet. 2017 Mar 27;13(3):e1006683. doi: 10.1371/journal.pgen.1006683. eCollection 2017 Mar.

46.

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, Lynch SA, Flinter F, FitzPatrick DR, Gardham A, Bernhard B, Ragge N, Newbury-Ecob R, Bernier R, Kvarnung M, Magnusson EA, Wessels MW, van Slegtenhorst MA, Monaghan KG, de Vries P, Veltman JA; Deciphering Developmental Disorders Study, Lord CJ, Vissers LE, de Vries BB.

Am J Hum Genet. 2017 Apr 6;100(4):650-658. doi: 10.1016/j.ajhg.2017.02.005. Epub 2017 Mar 23.

47.

The impact of introducing medical management on conservative and surgical management for early pregnancy miscarriage.

Black KI, de Vries BS, Moses F, Pelosi M, Cong A, Ludlow J.

Aust N Z J Obstet Gynaecol. 2017 Feb;57(1):93-98. doi: 10.1111/ajo.12573.

PMID:
28251638
48.

Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.

Vulto-van Silfhout AT, Gilissen C, Goeman JJ, Jansen S, van Amen-Hellebrekers CJM, van Bon BWM, Koolen DA, Sistermans EA, Brunner HG, de Brouwer APM, de Vries BBA.

Hum Mutat. 2017 May;38(5):594-599. doi: 10.1002/humu.23176. Epub 2017 Feb 2.

PMID:
28074630
49.

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.

Guo DC, Duan XY, Regalado ES, Mellor-Crummey L, Kwartler CS, Kim D, Lieberman K, de Vries BBA, Pfundt R, Schinzel A, Kotzot D, Shen X, Yang ML; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Gornik HL, Ganesh SK, Braverman AC, Grange DK, Milewicz DM.

Am J Hum Genet. 2017 Jan 5;100(1):21-30. doi: 10.1016/j.ajhg.2016.11.008. Epub 2016 Dec 8.

50.

The Human Phenotype Ontology in 2017.

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