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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.

Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee JS, Giong HK, Distelmaier F, Elpeleg O, Helbig KL, Hersh J, Isikay S, Jordan E, Karaca E, Kecskes A, Lupski JR, Kovacs-Nagy R, May P, Narayanan V, Pendziwiat M, Ramsey K, Rangasamy S, Shinde DN, Spiegel R, Timmerman V, von Spiczak S, Helbig I; C4RCD Research Group; AR working group of the EuroEPINOMICS RES Consortium, Weckhuysen S, Francklyn C, Antonellis A, de Witte P, De Jonghe P.

Nat Commun. 2019 Feb 12;10(1):708. doi: 10.1038/s41467-018-07953-w.


Clinical spectrum of STX1B-related epileptic disorders.

Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J.

Neurology. 2019 Feb 8. pii: 10.1212/WNL.0000000000007089. doi: 10.1212/WNL.0000000000007089. [Epub ahead of print]


Relation between adaptive function and IQ among youth with histories of heavy prenatal alcohol exposure.

Doyle LR, Coles CD, Kable JA, May PA, Sowell ER, Jones KL, Riley EP, Mattson SN; CIFASD.

Birth Defects Res. 2019 Feb 4. doi: 10.1002/bdr2.1463. [Epub ahead of print]


Tutorial on the Acquisition, Analysis, and Interpretation of Upconversion Luminescence Data.

May PS, Berry M.

Methods Appl Fluoresc. 2019 Jan 29. doi: 10.1088/2050-6120/ab02c6. [Epub ahead of print]


Spectrum of GABAA receptor variants in epilepsy.

Maljevic S, Møller RS, Reid CA, Pérez-Palma E, Lal D, May P, Lerche H.

Curr Opin Neurol. 2019 Jan 16. doi: 10.1097/WCO.0000000000000657. [Epub ahead of print]


Evaluating Hospital Readmissions for Persons With Serious and Complex Illness: A Competing Risks Approach.

May P, Garrido MM, Del Fabbro E, Noreika D, Normand C, Skoro N, Cassel JB.

Med Care Res Rev. 2019 Jan 18:1077558718823919. doi: 10.1177/1077558718823919. [Epub ahead of print]


Motor cortex relocation after complete anatomical hemispherectomy for intractable epilepsy secondary to Rasmussen's encephalitis.

Foster MT, Das K, May P.

Br J Neurosurg. 2019 Jan 17:1-3. doi: 10.1080/02688697.2018.1549316. [Epub ahead of print]


Treatment, prevention and public health management of impetigo, scabies, crusted scabies and fungal skin infections in endemic populations: a systematic review.

May PJ, Tong SYC, Steer AC, Currie BJ, Andrews RM, Carapetis JR, Bowen AC.

Trop Med Int Health. 2018 Dec 24. doi: 10.1111/tmi.13198. [Epub ahead of print] Review.


Attitudes and Knowledge of Healthcare Professionals Regarding Organ Donation. A Survey of the Saolta University Health Care Group.

Umana E, Grant O, Curran E, May P, Mohamed A, O’Donnell J.

Ir Med J. 2018 Dec 6;111(10):838.


Birth mode is associated with earliest strain-conferred gut microbiome functions and immunostimulatory potential.

Wampach L, Heintz-Buschart A, Fritz JV, Ramiro-Garcia J, Habier J, Herold M, Narayanasamy S, Kaysen A, Hogan AH, Bindl L, Bottu J, Halder R, Sjöqvist C, May P, Andersson AF, de Beaufort C, Wilmes P.

Nat Commun. 2018 Nov 30;9(1):5091. doi: 10.1038/s41467-018-07631-x.


Comment on Drinking or Smoking While Breastfeeding and Later Cognition in Children.

May PA, Manning MA, Hoyme HE.

Pediatrics. 2018 Nov;142(5). pii: e20182615A. doi: 10.1542/peds.2018-2615A. No abstract available.


Immunisation status of children with cerebral palsy in rural Bangladesh: results from the Bangladesh Cerebral Palsy Register (BCPR).

May P, Smithers-Sheedy H, Muhit M, Cumming R, Jones C, Booy R, Badawi N, Khandaker G.

Infect Disord Drug Targets. 2018 Oct 23. doi: 10.2174/1871526518666181024101002. [Epub ahead of print]


Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.

Niestroj LM, Du J, Nothnagel M, May P, Palotie A, Daly MJ, Nürnberg P, Blümcke I, Lal D.

Epilepsia. 2018 Nov;59(11):2145-2152. doi: 10.1111/epi.14579. Epub 2018 Oct 20.


Major changes of cell function and toxicant sensitivity in cultured cells undergoing mild, quasi-natural genetic drift.

Gutbier S, May P, Berthelot S, Krishna A, Trefzer T, Behbehani M, Efremova L, Delp J, Gstraunthaler G, Waldmann T, Leist M.

Arch Toxicol. 2018 Dec;92(12):3487-3503. doi: 10.1007/s00204-018-2326-5. Epub 2018 Oct 8.


Attitudes toward alcohol use during pregnancy among women recruited from alcohol-serving venues in Cape Town, South Africa: A mixed-methods study.

Fletcher OV, May PA, Seedat S, Sikkema KJ, Watt MH.

Soc Sci Med. 2018 Oct;215:98-106. doi: 10.1016/j.socscimed.2018.09.008. Epub 2018 Sep 9.


The RNA Complement of Outer Membrane Vesicles From Salmonella enterica Serovar Typhimurium Under Distinct Culture Conditions.

Malabirade A, Habier J, Heintz-Buschart A, May P, Godet J, Halder R, Etheridge A, Galas D, Wilmes P, Fritz JV.

Front Microbiol. 2018 Aug 30;9:2015. doi: 10.3389/fmicb.2018.02015. eCollection 2018.


Effects of deep tillage and municipal green waste compost amendments on soil properties and tree growth in compacted urban soils.

Somerville PD, May PB, Livesley SJ.

J Environ Manage. 2018 Dec 1;227:365-374. doi: 10.1016/j.jenvman.2018.09.004. Epub 2018 Sep 8.


Economic outcomes in palliative and end-of-life care: current state of affairs.

May P, Cassel JB.

Ann Palliat Med. 2018 Oct;7(Suppl 3):S244-S248. doi: 10.21037/apm.2018.06.06. Epub 2018 Jul 15.


Rare gene deletions in genetic generalized and Rolandic epilepsies.

Jabbari K, Bobbili DR, Lal D, Reinthaler EM, Schubert J, Wolking S, Sinha V, Motameny S, Thiele H, Kawalia A, Altmüller J, Toliat MR, Kraaij R, van Rooij J, Uitterlinden AG, Ikram MA; EuroEPINOMICS CoGIE Consortium, Zara F, Lehesjoki AE, Krause R, Zimprich F, Sander T, Neubauer BA, May P, Lerche H, Nürnberg P.

PLoS One. 2018 Aug 27;13(8):e0202022. doi: 10.1371/journal.pone.0202022. eCollection 2018.


Avoid the Goose! Paramedic Identification of Esophageal Intubation by Ultrasound.

Lema PC, O'Brien M, Wilson J, James ES, Lindstrom H, DeAngelis J, Caldwell J, May P, Clemency B.

Prehosp Disaster Med. 2018 Aug;33(4):406-410. doi: 10.1017/S1049023X18000651.


Use of Robotic Anastomosis Competency Evaluation (RACE) for assessment of surgical competency during urethrovesical anastomosis.

Khan H, Kozlowski JD, Hussein AA, Sharif M, Ahmed Y, May P, Hammond Y, Stone K, Ahmad B, Cole A, Hasasneh A, Raheem S, Guru KA.

Can Urol Assoc J. 2018 Jul 24. doi: 10.5489/cuaj.5348. [Epub ahead of print]


Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.

May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortium.

Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17.


A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease.

Hartl D, May P, Gu W, Mayhaus M, Pichler S, Spaniol C, Glaab E, Bobbili DR, Antony P, Koegelsberger S, Kurz A, Grimmer T, Morgan K, Vardarajan BN, Reitz C, Hardy J, Bras J, Guerreiro R, Balling R, Schneider JG, Riemenschneider M; AESG.

Mol Psychiatry. 2018 Jul 9. doi: 10.1038/s41380-018-0091-8. [Epub ahead of print]


De novo variants in neurodevelopmental disorders with epilepsy.

Heyne HO, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, De Jonghe P, Guerrini R, Helbig KL, Koeleman BPC, Kosmicki JA, Linnankivi T, May P, Muhle H, Møller RS, Neubauer BA, Palotie A, Pendziwiat M, Striano P, Tang S, Wu S; EuroEPINOMICS RES Consortium, Poduri A, Weber YG, Weckhuysen S, Sisodiya SM, Daly MJ, Helbig I, Lal D, Lemke JR.

Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7. Epub 2018 Jun 25.


Gynecological organ involvement at robot-assisted radical cystectomy in females: Is anterior exenteration necessary?

Whittum M, Hussein AA, Ahmed YE, Khan H, Krasowski C, Huben NB, May PR, Terakawa T, Li Q, Guru KA.

Can Urol Assoc J. 2018 May 14. doi: 10.5489/cuaj.5086. [Epub ahead of print]


Parvalbumin and GABA Microcircuits in the Mouse Superior Colliculus.

Villalobos CA, Wu Q, Lee PH, May PJ, Basso MA.

Front Neural Circuits. 2018 May 4;12:35. doi: 10.3389/fncir.2018.00035. eCollection 2018.


Small RNA profiling of low biomass samples: identification and removal of contaminants.

Heintz-Buschart A, Yusuf D, Kaysen A, Etheridge A, Fritz JV, May P, de Beaufort C, Upadhyaya BB, Ghosal A, Galas DJ, Wilmes P.

BMC Biol. 2018 May 14;16(1):52. doi: 10.1186/s12915-018-0522-7.


The relationship between neurosurgical instruments and disease transmission: Society of British Neurological Surgeons perspective.

Hutchinson PJA, White B, Helmy A, Thorne J, Jenkins A, Kerr R, Kitchen N, May P; Society of British Neurological Surgeons.

Acta Neuropathol. 2018 May 3. doi: 10.1007/s00401-018-1858-3. [Epub ahead of print] No abstract available.


Describing complex cells in primary visual cortex: a comparison of context and multifilter LN models.

Westö J, May PJC.

J Neurophysiol. 2018 Aug 1;120(2):703-719. doi: 10.1152/jn.00916.2017. Epub 2018 May 2.


Economics of Palliative Care for Hospitalized Adults With Serious Illness: A Meta-analysis.

May P, Normand C, Cassel JB, Del Fabbro E, Fine RL, Menz R, Morrison CA, Penrod JD, Robinson C, Morrison RS.

JAMA Intern Med. 2018 Jun 1;178(6):820-829. doi: 10.1001/jamainternmed.2018.0750.


The postural stability of children with foetal alcohol spectrum disorders during one-leg stance: A feasibility study.

Brink Y, Cockcroft J, Seedat S, May P, Kalberg W, Louw Q.

Afr J Disabil. 2018 Mar 29;7:319. doi: 10.4102/ajod.v7i0.319. eCollection 2018.


Negative electron affinity from aluminium on the diamond (1 0 0) surface: a theoretical study.

James MC, Croot A, May PW, Allan NL.

J Phys Condens Matter. 2018 Jun 13;30(23):235002. doi: 10.1088/1361-648X/aac041. Epub 2018 Apr 26.


Development and validation of surgical training tool: cystectomy assessment and surgical evaluation (CASE) for robot-assisted radical cystectomy for men.

Hussein AA, Sexton KJ, May PR, Meng MV, Hosseini A, Eun DD, Daneshmand S, Bochner BH, Peabody JO, Abaza R, Skinner EC, Hautmann RE, Guru KA.

Surg Endosc. 2018 Nov;32(11):4458-4464. doi: 10.1007/s00464-018-6191-3. Epub 2018 Apr 13.


Development of a Patient-Based Model for Estimating Operative Times for Robot-Assisted Radical Prostatectomy.

Huben NB, Hussein AA, May PR, Whittum M, Krasowski C, Ahmed YE, Jing Z, Khan H, Kim HL, Schwaab T, Underwood W, Kauffman EC, Mohler JL, Guru KA.

J Endourol. 2018 Aug;32(8):730-736. doi: 10.1089/end.2018.0249.


An Anatomic Characterization of the Midbrain Near Response Neurons in the Macaque Monkey.

May PJ, Warren S, Gamlin PDR, Billig I.

Invest Ophthalmol Vis Sci. 2018 Mar 1;59(3):1486-1502. doi: 10.1167/iovs.17-23737.


Studies of black silicon and black diamond as materials for antibacterial surfaces.

Hazell G, May PW, Taylor P, Nobbs AH, Welch CC, Su B.

Biomater Sci. 2018 May 29;6(6):1424-1432. doi: 10.1039/c8bm00107c.


Rare ABCA7 variants in 2 German families with Alzheimer disease.

May P, Pichler S, Hartl D, Bobbili DR, Mayhaus M, Spaniol C, Kurz A, Balling R, Schneider JG, Riemenschneider M.

Neurol Genet. 2018 Mar 21;4(2):e224. doi: 10.1212/NXG.0000000000000224. eCollection 2018 Apr.


Natural variation of chronological aging in the Saccharomyces cerevisiae species reveals diet-dependent mechanisms of life span control.

Jung PP, Zhang Z, Paczia N, Jaeger C, Ignac T, May P, Linster CL.

NPJ Aging Mech Dis. 2018 Mar 12;4:3. doi: 10.1038/s41514-018-0022-6. eCollection 2018.


In Vitro Cocktail Effects of PCB-DL (PCB118) and Bulky PCB (PCB153) with BaP on Adipogenesis and on Expression of Genes Involved in the Establishment of a Pro-Inflammatory State.

May P, Bremond P, Sauzet C, Piccerelle P, Grimaldi F, Champion S, Villard PH.

Int J Mol Sci. 2018 Mar 13;19(3). pii: E841. doi: 10.3390/ijms19030841.


A Palliative Radiation Oncology Consult Service Reduces Total Costs During Hospitalization.

Chang S, May P, Goldstein NE, Wisnivesky J, Ricks D, Fuld D, Aldridge M, Rosenzweig K, Morrison RS, Dharmarajan KV.

J Pain Symptom Manage. 2018 Jun;55(6):1452-1458. doi: 10.1016/j.jpainsymman.2018.03.005. Epub 2018 Mar 8.


Islet Cell Associated Autoantibodies and C-Peptide Levels in Patients with Diabetes and Symptoms of Gastroparesis.

Siraj ES, Homko C, Wilson LA, May P, Rao AD, Calles J, Farrugia G, Hasler WL, Koch KL, Nguyen L, Snape WJ, Abell TL, Sarosiek I, McCallum RW, Pasricha PJ, Clarke J, Tonascia J, Hamilton F, Parkman HP.

Front Endocrinol (Lausanne). 2018 Feb 13;9:32. doi: 10.3389/fendo.2018.00032. eCollection 2018.


Extraction and Analysis of RNA Isolated from Pure Bacteria-Derived Outer Membrane Vesicles.

Habier J, May P, Heintz-Buschart A, Ghosal A, Wienecke-Baldacchino AK, Nolte-'t Hoen ENM, Wilmes P, Fritz JV.

Methods Mol Biol. 2018;1737:213-230. doi: 10.1007/978-1-4939-7634-8_13.


A utilitarian comparison of two alcohol use biomarkers with self-reported drinking history collected in antenatal clinics.

May PA, Hasken JM, De Vries MM, Marais AS, Stegall JM, Marsden D, Parry CDH, Seedat S, Tabachnick B.

Reprod Toxicol. 2018 Apr;77:25-32. doi: 10.1016/j.reprotox.2018.02.002. Epub 2018 Feb 6.


Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities.

May PA, Chambers CD, Kalberg WO, Zellner J, Feldman H, Buckley D, Kopald D, Hasken JM, Xu R, Honerkamp-Smith G, Taras H, Manning MA, Robinson LK, Adam MP, Abdul-Rahman O, Vaux K, Jewett T, Elliott AJ, Kable JA, Akshoomoff N, Falk D, Arroyo JA, Hereld D, Riley EP, Charness ME, Coles CD, Warren KR, Jones KL, Hoyme HE.

JAMA. 2018 Feb 6;319(5):474-482. doi: 10.1001/jama.2017.21896.


National Imaging Trends after Percutaneous Nephrolithotomy.

Dai JC, Ahn JS, Holt SK, May PC, Sorensen MD, Harper JD.

J Urol. 2018 Jul;200(1):147-153. doi: 10.1016/j.juro.2018.01.078. Epub 2018 Feb 1.


Goodbye to S2- in aqueous solution.

May PM, Batka D, Hefter G, Königsberger E, Rowland D.

Chem Commun (Camb). 2018 Feb 20;54(16):1980-1983. doi: 10.1039/c8cc00187a.


Variability and interpretation of communication taxonomy during robot-assisted surgery: do we all speak the same language?

Raheem S, Ahmed YE, Hussein AA, Johnson A, Cavuoto L, May P, Cole A, Wang D, Ahmad B, Hasasneh A, Guru KA.

BJU Int. 2018 Jul;122(1):99-105. doi: 10.1111/bju.14150. Epub 2018 Mar 7.


Reply: No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease.

Fitzgerald JC, Zimprich A, Reddy Bobbili D, Sharma M, May P, Krüger R.

Brain. 2018 Mar 1;141(3):e17. doi: 10.1093/brain/awx380. No abstract available.


Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

Bobbili DR, Lal D, May P, Reinthaler EM, Jabbari K, Thiele H, Nothnagel M, Jurkowski W, Feucht M, Nürnberg P, Lerche H, Zimprich F, Krause R, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Steinböck H, Neophytou B, Geldner J, Gruber-Sedlmayr U, Haberlandt E, Ronen GM, Altmüller J, Lal D, Nürnberg P, Sander T, Thiele H, Krause R, May P, Balling R, Lerche H, Neubauer BA; EUROEPINOMICS COGIE Consortium.

Eur J Hum Genet. 2018 Feb;26(2):258-264. doi: 10.1038/s41431-017-0034-x. Epub 2018 Jan 22.

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