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Items: 1 to 20 of 1396

1.

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.

Scala M, Mojarrad M, Riazuddin S, Brigatti KW, Ammous Z, Cohen JS, Hosny H, Usmani MA, Shahzad M, Riazuddin S, Stanley V, Eslahi A, Person RE, Elbendary HM, Comi AM, Poskitt L, Salpietro V, Genomics QS, Rosenfeld JA, Williams KB, Marafi D, Xia F, Biderman Waberski M, Zaki MS, Gleeson J, Puffenberger E, Houlden H, Maroofian R.

Brain. 2020 Mar 30. pii: awaa070. doi: 10.1093/brain/awaa070. [Epub ahead of print] No abstract available.

PMID:
32227164
2.

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, Ciolfi A, Millan F, Person RE, Bruel AL, Thauvin-Robinet C, Ververi A, DeVile C, Male A, Efthymiou S, Maroofian R, Houlden H, Maqbool S, Rahman F, Baratang NV, Rousseau J, St-Denis A, Elrick MJ, Anselm I, Rodan LH, Tartaglia M, Gleeson J, Kinoshita T, Campeau PM.

Am J Hum Genet. 2020 Apr 2;106(4):484-495. doi: 10.1016/j.ajhg.2020.03.001. Epub 2020 Mar 26.

PMID:
32220290
3.

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.

Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network, Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A.

J Exp Med. 2020 Jun 1;217(6). pii: e20191804. doi: 10.1084/jem.20191804.

PMID:
32207811
4.

Machine learning algorithms performed no better than regression models for prognostication in traumatic brain injury.

Gravesteijn BY, Nieboer D, Ercole A, Lingsma HF, Nelson D, van Calster B, Steyerberg EW; CENTER-TBI collaborators.

J Clin Epidemiol. 2020 Mar 19. pii: S0895-4356(19)30875-3. doi: 10.1016/j.jclinepi.2020.03.005. [Epub ahead of print]

5.

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M; Undiagnosed Diseases Network, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT.

Am J Hum Genet. 2020 Apr 2;106(4):570-583. doi: 10.1016/j.ajhg.2020.02.016. Epub 2020 Mar 19.

PMID:
32197074
6.

'Minimal symptom expression' in patients with acetylcholine receptor antibody-positive refractory generalized myasthenia gravis treated with eculizumab.

Vissing J, Jacob S, Fujita KP, O'Brien F, Howard JF; REGAIN study group.

J Neurol. 2020 Mar 18. doi: 10.1007/s00415-020-09770-y. [Epub ahead of print]

PMID:
32189108
7.

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.

Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Zuo Z, Duraine L, Sadeghzadeh S, Li-Kroeger D, Schmidt RE, Pestronk A, Rosenfeld JA, Burrage L, Herndon MJ, Chen S; Members of Undiagnosed Diseases Network, Shillington A, Vawter-Lee M, Hopkin R, Rodriguez-Smith J, Henrickson M, Lee B, Moser AB, Jones RO, Watkins P, Yoo T, Mar S, Choi M, Bucelli RC, Yamamoto S, Lee HK, Prada CE, Chae JH, Vogel TP, Bellen HJ.

Neuron. 2020 Mar 9. pii: S0896-6273(20)30144-6. doi: 10.1016/j.neuron.2020.02.021. [Epub ahead of print]

PMID:
32169171
8.

Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.

Granadillo JL, P A Stegmann A, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M, Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet C, M Amudhavalli S, Lawson CE, McWalter K, Telegrafi A, Pearson R, Kvarnung M, Wang X, Bi W, Rosenfeld JA, Shinawi M.

J Med Genet. 2020 Mar 9. pii: jmedgenet-2019-106470. doi: 10.1136/jmedgenet-2019-106470. [Epub ahead of print]

PMID:
32152250
9.

Aggressive FUS-Mutant Motor Neuron Disease Without Profound Spinal Cord Pathology.

Wongworawat YC, Liu YA, Raghavan R, White CL, Dietz R, Zuppan C, Rosenfeld J.

J Neuropathol Exp Neurol. 2020 Apr 1;79(4):365-369. doi: 10.1093/jnen/nlaa011.

PMID:
32142142
10.

Global health, global surgery and mass casualties: II. Mass casualty centre resources, equipment and implementation.

Aguilera S, Quintana L, Khan T, Garcia R, Shoman H, Caddell L, Latifi R, Park KB, Garcia P, Dempsey R, Rosenfeld JV, Scurlock C, Crisp N, Samad L, Smith M, Lippa L, Jooma R, Andrews RJ.

BMJ Glob Health. 2020 Jan 13;5(1):e001945. doi: 10.1136/bmjgh-2019-001945. eCollection 2020. Review.

11.

Single-cell sperm transcriptomes and variants from fathers of children with and without autism spectrum disorder.

Tomoiaga D, Aguiar-Pulido V, Shrestha S, Feinstein P, Levy SE, Mason CE, Rosenfeld JA.

NPJ Genom Med. 2020 Feb 21;5:14. doi: 10.1038/s41525-020-0117-4. eCollection 2020.

12.

Quality indicators for patients with traumatic brain injury in European intensive care units: a CENTER-TBI study.

Huijben JA, Wiegers EJA, Ercole A, de Keizer NF, Maas AIR, Steyerberg EW, Citerio G, Wilson L, Polinder S, Nieboer D, Menon D, Lingsma HF, van der Jagt M; CENTER-TBI investigators and participants for the ICU stratum.

Crit Care. 2020 Mar 4;24(1):78. doi: 10.1186/s13054-020-2791-0.

13.

Changing care pathways and between-center practice variations in intensive care for traumatic brain injury across Europe: a CENTER-TBI analysis.

Huijben JA, Wiegers EJA, Lingsma HF, Citerio G, Maas AIR, Menon DK, Ercole A, Nelson D, van der Jagt M, Steyerberg EW, Helbok R, Lecky F, Peul W, Birg T, Zoerle T, Carbonara M, Stocchetti N; CENTER-TBI investigators and participants.

Intensive Care Med. 2020 Feb 25. doi: 10.1007/s00134-020-05965-z. [Epub ahead of print]

PMID:
32100061
14.

Necessity of the target discrimination in the P300-based complex trial protocol test for concealed information.

Davydova E, Rosenfeld JP, Labkovsky E.

Psychophysiology. 2020 Feb 13:e13548. doi: 10.1111/psyp.13548. [Epub ahead of print]

PMID:
32052869
15.

Biomarkers for Traumatic Brain Injury: Data Standards and Statistical Considerations.

Huie JR, Mondello S, Lindsell CJ, Antiga L, Yuh EL, Zanier ER, Masson S, Rosario BL, Ferguson AR; Transforming Research and Clinical Knowledge in Traumatic Brain Injury (TRACK-TBI) Investigators, The Transforming Research and Clinical Knowledge in Traumatic Brain Injury (TRACK-TBI) Investigators, Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) Participants and Investigators, Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) Participants and Investigators.

J Neurotrauma. 2020 Apr 1. doi: 10.1089/neu.2019.6762. [Epub ahead of print]

PMID:
32046588
16.

Patient Outcomes at Twelve Months after Early Decompressive Craniectomy for Diffuse Traumatic Brain Injury in the Randomized DECRA Clinical Trial.

Cooper DJ, Rosenfeld JV, Murray L, Arabi YM, Davies AR, Ponsford J, Seppelt I, Reilly P, Wiegers E, Wolfe R; DECRA Trial Investigators and the Australian and New Zealand Intensive Care Society Clinical Trials Group.

J Neurotrauma. 2020 Mar 1;37(5):810-816. doi: 10.1089/neu.2019.6869.

17.

Tracheostomy practice and timing in traumatic brain-injured patients: a CENTER-TBI study.

Robba C, Galimberti S, Graziano F, Wiegers EJA, Lingsma HF, Iaquaniello C, Stocchetti N, Menon D, Citerio G; CENTER-TBI ICU Participants and Investigators.

Intensive Care Med. 2020 Feb 5. doi: 10.1007/s00134-020-05935-5. [Epub ahead of print]

PMID:
32025780
18.

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.

Scott TM, Guo H, Eichler EE, Rosenfeld JA, Pang K, Liu Z, Lalani S, Bi W, Yang Y, Bacino CA, Streff H, Lewis AM, Koenig MK, Thiffault I, Bellomo A, Everman DB, Jones JR, Stevenson RE, Bernier R, Gilissen C, Pfundt R, Hiatt SM, Cooper GM, Holder JL, Scott DA.

Hum Mutat. 2020 Jan 30. doi: 10.1002/humu.23992. [Epub ahead of print]

PMID:
31999386
19.

A management algorithm for adult patients with both brain oxygen and intracranial pressure monitoring: the Seattle International Severe Traumatic Brain Injury Consensus Conference (SIBICC).

Chesnut R, Aguilera S, Buki A, Bulger E, Citerio G, Cooper DJ, Arrastia RD, Diringer M, Figaji A, Gao G, Geocadin R, Ghajar J, Harris O, Hoffer A, Hutchinson P, Joseph M, Kitagawa R, Manley G, Mayer S, Menon DK, Meyfroidt G, Michael DB, Oddo M, Okonkwo D, Patel M, Robertson C, Rosenfeld JV, Rubiano AM, Sahuquillo J, Servadei F, Shutter L, Stein D, Stocchetti N, Taccone FS, Timmons S, Tsai E, Ullman JS, Vespa P, Videtta W, Wright DW, Zammit C, Hawryluk GWJ.

Intensive Care Med. 2020 Jan 21. doi: 10.1007/s00134-019-05900-x. [Epub ahead of print]

PMID:
31965267
20.

IGF2 drives formation of ileal neuroendocrine tumors in patients and mice.

Contractor T, Clausen R, Harris G, Rosenfeld J, Carpizo D, Tang L, Harris C.

Endocr Relat Cancer. 2020 Jan 1. pii: ERC-19-0505.R1. doi: 10.1530/ERC-19-0505. [Epub ahead of print]

PMID:
31951591

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