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Items: 1 to 50 of 1261

1.

Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.

Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B.

Genet Med. 2019 Jul 3. doi: 10.1038/s41436-019-0590-2. [Epub ahead of print]

PMID:
31267042
2.

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Blackburn ATM, Bekheirnia N, Uma VC, Corkins ME, Xu Y, Rosenfeld JA, Bainbridge MN, Yang Y, Liu P, Madan-Khetarpal S, Delgado MR, Hudgins L, Krantz I, Rodriguez-Buritica D, Wheeler PG, Gazali LA, Mohamed Saeed Mohamed Al Shamsi A, Gomez-Ospina N, Chao HT, Mirzaa GM, Scheuerle AE, Kukolich MK, Scaglia F, Eng C, Willsey HR, Braun MC, Lamb DJ, Miller RK, Bekheirnia MR.

Genet Med. 2019 Jul 2. doi: 10.1038/s41436-019-0576-0. [Epub ahead of print]

PMID:
31263215
3.

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmüller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM.

Am J Hum Genet. 2019 Jun 25. pii: S0002-9297(19)30206-X. doi: 10.1016/j.ajhg.2019.05.019. [Epub ahead of print]

PMID:
31256876
4.

Reanalysis of Clinical Exome Sequencing Data.

Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y.

N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033. No abstract available.

PMID:
31216405
5.

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.

Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW.

Neurol Genet. 2019 Apr 18;5(2):e565. doi: 10.1212/NXG.0000000000000316. eCollection 2019 Apr.

6.

Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.

Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B.

Genet Med. 2019 Jun 3. doi: 10.1038/s41436-019-0557-3. [Epub ahead of print] Erratum in: Genet Med. 2019 Jul 3;:.

PMID:
31155615
7.

Consensus statement from the International Consensus Meeting on the Role of Decompressive Craniectomy in the Management of Traumatic Brain Injury : Consensus statement.

Hutchinson PJ, Kolias AG, Tajsic T, Adeleye A, Aklilu AT, Apriawan T, Bajamal AH, Barthélemy EJ, Devi BI, Bhat D, Bulters D, Chesnut R, Citerio G, Cooper DJ, Czosnyka M, Edem I, El-Ghandour NMF, Figaji A, Fountas KN, Gallagher C, Hawryluk GWJ, Iaccarino C, Joseph M, Khan T, Laeke T, Levchenko O, Liu B, Liu W, Maas A, Manley GT, Manson P, Mazzeo AT, Menon DK, Michael DB, Muehlschlegel S, Okonkwo DO, Park KB, Rosenfeld JV, Rosseau G, Rubiano AM, Shabani HK, Stocchetti N, Timmons SD, Timofeev I, Uff C, Ullman JS, Valadka A, Waran V, Wells A, Wilson MH, Servadei F.

Acta Neurochir (Wien). 2019 Jul;161(7):1261-1274. doi: 10.1007/s00701-019-03936-y. Epub 2019 May 28. Review.

8.

The cranial nerve nomenclature - Historical vignette.

Li Ching Ng A, Rosenfeld JV, Di Ieva A.

World Neurosurg. 2019 May 14. pii: S1878-8750(19)31310-5. doi: 10.1016/j.wneu.2019.05.036. [Epub ahead of print] Review.

PMID:
31100524
9.

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.

Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA.

Am J Med Genet A. 2019 Jul;179(7):1376-1382. doi: 10.1002/ajmg.a.61182. Epub 2019 May 8.

PMID:
31069960
10.

Financial Incentive Does Not Affect P300 in the Complex Trial Protocol (CTP) Version of the Concealed Information Test (CIT) in Malingering Detection. II. Uninstructed Subjects.

Rosenfeld JP, Davydova E, Labkovsky E, Ward A.

Front Psychiatry. 2019 Apr 15;10:189. doi: 10.3389/fpsyt.2019.00189. eCollection 2019.

11.

An assessment of the utility and functionality of wearable head impact sensors in Australian Football.

McIntosh AS, Willmott C, Patton DA, Mitra B, Brennan JH, Dimech-Betancourt B, Howard TS, Rosenfeld JV.

J Sci Med Sport. 2019 Jul;22(7):784-789. doi: 10.1016/j.jsams.2019.02.004. Epub 2019 Feb 28.

PMID:
31000457
12.

Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.

Headrick AT, Rosenfeld JA, Yang Y, Tunuguntla H, Allen HD, Penny DJ, Kim JJ, Landstrom AP.

Mol Genet Genomic Med. 2019 Jun;7(6):e593. doi: 10.1002/mgg3.593. Epub 2019 Apr 15.

13.

Human Brain/Cloud Interface.

Martins NRB, Angelica A, Chakravarthy K, Svidinenko Y, Boehm FJ, Opris I, Lebedev MA, Swan M, Garan SA, Rosenfeld JV, Hogg T, Freitas RA Jr.

Front Neurosci. 2019 Mar 29;13:112. doi: 10.3389/fnins.2019.00112. eCollection 2019.

14.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.

Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Jalal Ahmed HM, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Ł, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST.

Am J Hum Genet. 2019 Apr 4;104(4):778. doi: 10.1016/j.ajhg.2019.03.016. Epub 2019 Mar 28. No abstract available.

15.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.

Genome Med. 2019 Mar 25;11(1):16. doi: 10.1186/s13073-019-0630-1.

16.

P300 in detecting concealed information and deception: A review.

Rosenfeld JP.

Psychophysiology. 2019 Mar 11:e13362. doi: 10.1111/psyp.13362. [Epub ahead of print]

PMID:
30859600
17.

Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials.

van den Berg LH, Sorenson E, Gronseth G, Macklin EA, Andrews J, Baloh RH, Benatar M, Berry JD, Chio A, Corcia P, Genge A, Gubitz AK, Lomen-Hoerth C, McDermott CJ, Pioro EP, Rosenfeld J, Silani V, Turner MR, Weber M, Brooks BR, Miller RG, Mitsumoto H; Airlie House ALS Clinical Trials Guidelines Group.

Neurology. 2019 Apr 2;92(14):e1610-e1623. doi: 10.1212/WNL.0000000000007242. Epub 2019 Mar 8.

18.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Ahmed HMJ, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Ł, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST.

Am J Hum Genet. 2019 Mar 7;104(3):542-552. doi: 10.1016/j.ajhg.2019.01.013. Epub 2019 Feb 28. Erratum in: Am J Hum Genet. 2019 Apr 4;104(4):778.

PMID:
30827498
19.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM.

Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28.

PMID:
30827496
20.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.

Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Erratum in: Genome Med. 2019 Mar 25;11(1):16.

21.

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH.

Hum Mutat. 2019 Feb 28. doi: 10.1002/humu.23731. [Epub ahead of print]

PMID:
30817854
22.

Inadequate Decompressive Craniectomy Following a Wartime Traumatic Brain Injury - An Illustrative Case of Why Size Matters.

Janatpour ZC, Szuflita NS, Spinelli J, Coughlin DJ, Rosenfeld JV, Bell RS.

Mil Med. 2019 Feb 22. pii: usz008. doi: 10.1093/milmed/usz008. [Epub ahead of print]

PMID:
30793187
23.

Revealing the Hippocampal Connectome through Super-Resolution 1150-Direction Diffusion MRI.

Maller JJ, Welton T, Middione M, Callaghan FM, Rosenfeld JV, Grieve SM.

Sci Rep. 2019 Feb 20;9(1):2418. doi: 10.1038/s41598-018-37905-9.

24.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B.

Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

25.

Development and Validation of a Prognostic Model of Swallowing Recovery and Enteral Tube Feeding After Ischemic Stroke.

Galovic M, Stauber AJ, Leisi N, Krammer W, Brugger F, Vehoff J, Balcerak P, Müller A, Müller M, Rosenfeld J, Polymeris A, Thilemann S, De Marchis GM, Niemann T, Leifke M, Lyrer P, Saladin P, Kahles T, Nedeltchev K, Sarikaya H, Jung S, Fischer U, Manno C, Cereda CW, Sander JW, Tettenborn B, Weder BJ, Stoeckli SJ, Arnold M, Kägi G.

JAMA Neurol. 2019 Feb 11. doi: 10.1001/jamaneurol.2018.4858. [Epub ahead of print]

PMID:
30742198
26.

CMOS stimulating chips capable of wirelessly driving 473 electrodes for a cortical vision prosthesis.

Wong YT, Feleppa T, Mohan A, Browne D, Szlawski J, Rosenfeld JV, Lowery A.

J Neural Eng. 2019 Apr;16(2):026025. doi: 10.1088/1741-2552/ab021b. Epub 2019 Jan 28.

PMID:
30690434
27.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP.

Genet Med. 2019 Jan 25. doi: 10.1038/s41436-019-0433-1. [Epub ahead of print]

PMID:
30679821
28.

What do government unions do? Public sector unions and nonunion wages, 1977-2015.

Rosenfeld J, Denice P.

Soc Sci Res. 2019 Feb;78:41-56. doi: 10.1016/j.ssresearch.2018.10.011. Epub 2018 Oct 19.

PMID:
30670220
29.

Visual presentation modality's superiority in the detection of concealed information: A comparison of the efficiencies of the P300-based Complex Trial Protocol in visual versus auditory modalities.

Zheng H, Rosenfeld JP, Deng X, Lu Y, Xue C, Wang Y, Zhang E, Yan G, Ouyang D.

Int J Psychophysiol. 2019 Mar;137:32-40. doi: 10.1016/j.ijpsycho.2019.01.005. Epub 2019 Jan 18.

PMID:
30664886
30.

Harnessing synergies at the interface of public health and the security sector.

Thomson N, Littlejohn M, Strathdee SA, Southby RF, Coghlan B, Rosenfeld JV, Galvani AP.

Lancet. 2019 Jan 19;393(10168):207-209. doi: 10.1016/S0140-6736(18)32999-4. No abstract available.

PMID:
30663581
31.

The Evolving Concept of Damage Control in Neurotrauma: Application of Military Protocols in Civilian Settings with Limited Resources.

Rubiano AM, Maldonado M, Montenegro J, Restrepo CM, Khan AA, Monteiro R, Faleiro RM, Carreño JN, Amorim R, Paiva W, Muñoz E, Paranhos J, Soto A, Armonda R, Rosenfeld JV.

World Neurosurg. 2019 Jan 16. pii: S1878-8750(19)30064-6. doi: 10.1016/j.wneu.2019.01.005. [Epub ahead of print]

PMID:
30659971
32.

Insights into genetics, human biology and disease gleaned from family based genomic studies.

Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, Avramopoulos D, White JJ, Doheny KF, Witmer PD, Boehm C, Sutton VR, Muzny DM, Boerwinkle E, Günel M, Nickerson DA, Mane S, MacArthur DG, Gibbs RA, Hamosh A, Lifton RP, Matise TC, Rehm HL, Gerstein M, Bamshad MJ, Valle D, Lupski JR; Centers for Mendelian Genomics.

Genet Med. 2019 Apr;21(4):798-812. doi: 10.1038/s41436-018-0408-7. Epub 2019 Jan 18. Review.

PMID:
30655598
33.

Evaluation of a targeted, theory-informed implementation intervention designed to increase uptake of emergency management recommendations regarding adult patients with mild traumatic brain injury: results of the NET cluster randomised trial.

Bosch M, McKenzie JE, Ponsford JL, Turner S, Chau M, Tavender EJ, Knott JC, Gruen RL, Francis JJ, Brennan SE, Pearce A, O'Connor DA, Mortimer D, Grimshaw JM, Rosenfeld JV, Meares S, Smyth T, Michie S, Green SE.

Implement Sci. 2019 Jan 17;14(1):4. doi: 10.1186/s13012-018-0841-7.

34.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH; Undiagnosed Diseases Network, Campeau PM.

Am J Hum Genet. 2019 Jan 3;104(1):164-178. doi: 10.1016/j.ajhg.2018.11.007. Epub 2018 Dec 20.

35.

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.

Handoko M, Emrick LT, Rosenfeld JA, Wang X, Tran AA, Turner A, Belmont JW; Undiagnosed Diseases Network, Lee BH, Bacino CA, Chao HT.

Am J Med Genet A. 2019 Mar;179(3):475-479. doi: 10.1002/ajmg.a.61007. Epub 2018 Dec 19.

PMID:
30569621
36.

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.

Emrick LT, Rosenfeld JA, Lalani SR, Jain M, Desai NK, Larson A, Kripps K, Vanderver A, Taft RJ, Bluske K, Perry D, Nagakura H, Immken LL, Burrage LC, Bacino CA, Belmont JW, Network UD, Lee B.

Genet Med. 2019 Jul;21(7):1652-1656. doi: 10.1038/s41436-018-0358-0. Epub 2018 Dec 20.

37.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP.

Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29.

38.

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.

Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B; Undiagnosed Diseases Network, Craigen WJ, Bearden DR, Graham BH, Freeze HH.

Am J Hum Genet. 2018 Dec 6;103(6):1030-1037. doi: 10.1016/j.ajhg.2018.10.021. Epub 2018 Nov 29.

39.

Rethinking Amyotrophic Lateral Sclerosis.

Rosenfeld J.

Mayo Clin Proc. 2018 Nov;93(11):1543-1545. doi: 10.1016/j.mayocp.2018.09.009. No abstract available.

PMID:
30392539
40.

The State Following Approximation Method.

Rosenfeld JA, Kamalapurkar R, Dixon WE.

IEEE Trans Neural Netw Learn Syst. 2019 Jun;30(6):1716-1730. doi: 10.1109/TNNLS.2018.2870040. Epub 2018 Oct 25.

PMID:
30369450
41.

Effect of Early Sustained Prophylactic Hypothermia on Neurologic Outcomes Among Patients With Severe Traumatic Brain Injury: The POLAR Randomized Clinical Trial.

Cooper DJ, Nichol AD, Bailey M, Bernard S, Cameron PA, Pili-Floury S, Forbes A, Gantner D, Higgins AM, Huet O, Kasza J, Murray L, Newby L, Presneill JJ, Rashford S, Rosenfeld JV, Stephenson M, Vallance S, Varma D, Webb SAR, Trapani T, McArthur C; POLAR Trial Investigators and the ANZICS Clinical Trials Group.

JAMA. 2018 Dec 4;320(21):2211-2220. doi: 10.1001/jama.2018.17075.

42.

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.

Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC; Undiagnosed Diseases Network, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P.

Ann Clin Transl Neurol. 2018 Sep 15;5(10):1277-1285. doi: 10.1002/acn3.622. eCollection 2018 Oct.

43.

Comparing short versions of the Alcohol Use Disorders Identification Test (AUDIT) in a military cohort.

Watterson J, Gabbe B, Dietze P, Bowring A, Rosenfeld JV.

J R Army Med Corps. 2018 Oct 18. pii: jramc-2018-001024. doi: 10.1136/jramc-2018-001024. [Epub ahead of print]

PMID:
30341169
44.

Risk of Alzheimer's Disease in Obstructive Sleep Apnea Syndrome: Amyloid-β and Tau Imaging.

Elias A, Cummins T, Tyrrell R, Lamb F, Dore V, Williams R, Rosenfeld JV, Hopwood M, Villemagne VL, Rowe CC.

J Alzheimers Dis. 2018;66(2):733-741. doi: 10.3233/JAD-180640.

PMID:
30320587
45.

Suppression of 12-Hz SSVEPs when viewing familiar faces: An electrophysiological index to detect recognition.

Lui M, Lui KFH, Wong AC, Rosenfeld JP.

Int J Psychophysiol. 2018 Nov;133:159-168. doi: 10.1016/j.ijpsycho.2018.07.005. Epub 2018 Jul 6.

PMID:
30318051
46.

The effect of countermeasures against the reaction time based concealed information test on the P300 index of knowledge recognition: A combined RT and P300-based test.

Olson J, Rosenfeld JP, Kim T, Perrault E.

Int J Psychophysiol. 2018 Dec;134:9-14. doi: 10.1016/j.ijpsycho.2018.10.003. Epub 2018 Oct 7.

PMID:
30300661
47.

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Metz KA, Teng X, Coppens I, Lamb HM, Wagner BE, Rosenfeld JA, Chen X, Zhang Y, Kim HJ, Meadow ME, Wang TS, Haberlandt ED, Anderson GW, Leshinsky-Silver E, Bi W, Markello TC, Pratt M, Makhseed N, Garnica A, Danylchuk NR, Burrow TA, Jayakar P, McKnight D, Agadi S, Gbedawo H, Stanley C, Alber M, Prehl I, Peariso K, Ong MT, Mordekar SR, Parker MJ, Crooks D, Agrawal PB, Berry GT, Loddenkemper T, Yang Y, Maegawa GHB, Aouacheria A, Markle JG, Wohlschlegel JA, Hartman AL, Hardwick JM.

Ann Neurol. 2018 Nov;84(5):766-780. doi: 10.1002/ana.25351. Epub 2018 Nov 8.

PMID:
30295347
48.

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, Jones MC, Masser-Frye D, Scheuerle AE, Perry DL, Taft RJ, Le Deist F, Thompson M, Kinoshita T, Campeau PM.

Am J Hum Genet. 2018 Oct 4;103(4):602-611. doi: 10.1016/j.ajhg.2018.08.014. Epub 2018 Sep 27.

49.

16p12.2 Recurrent Deletion.

Girirajan S, Pizzo L, Moeschler J, Rosenfeld J.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2015 Feb 26 [updated 2018 Sep 13].

50.

IRF2BPL Is Associated with Neurological Phenotypes.

Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM.

Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.010. No abstract available.

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