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Items: 1 to 50 of 1305

1.

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 Mar 26. pii: S0002-9297(20)30077-X. doi: 10.1016/j.ajhg.2020.03.001. [Epub ahead of print]

PMID:
32220290
2.

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
3.

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 Mar 16. pii: S0002-9297(20)30076-8. doi: 10.1016/j.ajhg.2020.02.016. [Epub ahead of print]

PMID:
32197074
4.

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
5.

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
6.

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
7.

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.

8.

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.

9.

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
10.

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.

11.

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
12.

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
13.

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
14.

Global health, global surgery and mass casualties. I. Rationale for integrated mass casualty centres.

Khan T, Quintana L, Aguilera S, 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. 2019 Dec 22;4(6):e001943. doi: 10.1136/bmjgh-2019-001943. eCollection 2019. Review.

15.

The enhancing effect of incongruent verbal priming stimuli on the CIT effect with pictorial probes in the P300-based complex trial protocol.

Sui T, Sitar E, Rosenfeld JP, Labkovsky E, Ward A, Davydova E.

Int J Psychophysiol. 2020 Feb;148:59-66. doi: 10.1016/j.ijpsycho.2019.12.001. Epub 2020 Jan 2.

PMID:
31904394
16.

De novo copy number variants and parental age: Is there an association?

Wadhawan I, Hai Y, Foyouzi Yousefi N, Guo X, Graham JM Jr, Rosenfeld JA.

Eur J Med Genet. 2019 Dec 25:103829. doi: 10.1016/j.ejmg.2019.103829. [Epub ahead of print]

PMID:
31883480
17.

Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.

Sewani M, Nugent K, Blackburn PR, Tarnowski JM, Hernandez-Garcia A, Amiel J, Whalen S, Keren B, Courtin T, Rosenfeld JA, Yang Y, Patterson MC, Pichurin P, McLean SD, Scott DA.

Am J Med Genet A. 2020 Apr;182(4):652-658. doi: 10.1002/ajmg.a.61466. Epub 2019 Dec 28.

PMID:
31883306
18.

Whole Genome Sequencing and Assembly of the Asian Honey Bee Apis dorsata.

Oppenheim S, Cao X, Rueppel O, Krongdang S, Phokasem P, DeSalle R, Goodwin S, Xing J, Chantawannakul P, Rosenfeld JA.

Genome Biol Evol. 2020 Jan 1;12(1):3677-3683. doi: 10.1093/gbe/evz277.

19.

Correction: 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, Al-Gazali L, Shamsi AMSMA, 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 Dec 20. doi: 10.1038/s41436-019-0732-6. [Epub ahead of print]

PMID:
31857706
20.

The effect of retroactive memory interference on the P300-based Complex Trial Protocol (CTP).

Ward AC, Rosenfeld JP, Sitar EJ, Wasserman JD.

Int J Psychophysiol. 2020 Jan;147:213-223. doi: 10.1016/j.ijpsycho.2019.10.016. Epub 2019 Dec 6.

PMID:
31812457
21.

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, Liu P, Punetha J, Hunter JV, Jhangiani SN, Fatih JM, Rosenfeld JA, Posey JE, Gibbs RA, Karaca E, Massey S, Ranasinghe TG, Sleiman P, Troedson C, Lupski JR, Sacher M, Segev N, Hakonarson H, Christodoulou J.

Brain. 2020 Jan 1;143(1):112-130. doi: 10.1093/brain/awz374.

PMID:
31794024
22.

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.

Wang J, Rousseau J, Kim E, Ehresmann S, Cheng YT, Duraine L, Zuo Z, Park YJ, Li-Kroeger D, Bi W, Wong LJ, Rosenfeld J, Gleeson J, Faqeih E, Alkuraya FS, Wierenga KJ, Chen J, Afenjar A, Nava C, Doummar D, Keren B, Juusola J, Grompe M, Bellen HJ, Campeau PM.

Am J Hum Genet. 2019 Dec 5;105(6):1237-1253. doi: 10.1016/j.ajhg.2019.11.002. Epub 2019 Nov 27.

PMID:
31785787
23.

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).

Assia Batzir N, Posey JE, Song X, Akdemir ZC, Rosenfeld JA, Brown CW, Chen E, Holtrop SG, Mizerik E, Nieto Moreno M, Payne K, Raas-Rothschild A, Scott R, Vernon HJ, Zadeh N; Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Sutton VR.

Am J Med Genet A. 2020 Jan;182(1):38-52. doi: 10.1002/ajmg.a.61380. Epub 2019 Nov 29.

PMID:
31782611
24.

Amyloid-β, Tau, and 18F-Fluorodeoxyglucose Positron Emission Tomography in Posttraumatic Stress Disorder.

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

J Alzheimers Dis. 2020;73(1):163-173. doi: 10.3233/JAD-190913.

PMID:
31771068
25.

Adapting a water, sanitation, and hygiene picture-based curriculum in the Dominican Republic.

Nordhauser J, Rosenfeld J.

Glob Health Promot. 2019 Nov 17:1757975919848111. doi: 10.1177/1757975919848111. [Epub ahead of print]

PMID:
31736435
26.

Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.

Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L.

Hum Mutat. 2020 Mar;41(3):632-640. doi: 10.1002/humu.23950. Epub 2019 Nov 25.

PMID:
31696996
27.

A Genocentric Approach to Discovery of Mendelian Disorders.

Hansen AW, Murugan M, Li H, Khayat MM, Wang L, Rosenfeld J, Andrews BK, Jhangiani SN, Coban Akdemir ZH, Sedlazeck FJ, Ashley-Koch AE, Liu P, Muzny DM; Task Force for Neonatal Genomics, Davis EE, Katsanis N, Sabo A, Posey JE, Yang Y, Wangler MF, Eng CM, Sutton VR, Lupski JR, Boerwinkle E, Gibbs RA.

Am J Hum Genet. 2019 Nov 7;105(5):974-986. doi: 10.1016/j.ajhg.2019.09.027. Epub 2019 Oct 24.

PMID:
31668702
28.

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

Hawryluk GWJ, 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, Chesnut RM.

Intensive Care Med. 2019 Dec;45(12):1783-1794. doi: 10.1007/s00134-019-05805-9. Epub 2019 Oct 28.

29.

Long-Term Outcomes after Severe Traumatic Brain Injury in Older Adults. A Registry-based Cohort Study.

Maiden MJ, Cameron PA, Rosenfeld JV, Cooper DJ, McLellan S, Gabbe BJ.

Am J Respir Crit Care Med. 2020 Jan 15;201(2):167-177. doi: 10.1164/rccm.201903-0673OC.

PMID:
31657946
30.

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.

Kim HG, Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Rüschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH.

Mol Autism. 2019 Oct 22;10:35. doi: 10.1186/s13229-019-0286-0. eCollection 2019.

31.

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.

Mitani T, Punetha J, Akalin I, Pehlivan D, Dawidziuk M, Coban Akdemir Z, Yilmaz S, Aslan E, Hunter JV, Hijazi H, Grochowski CM, Jhangiani SN, Karaca E, Fatih JM, Iwanowski P, Gambin T, Wlasienko P, Goszczanska-Ciuchta A, Bekiesinska-Figatowska M, Hosseini M, Arzhangi S, Najmabadi H, Rosenfeld JA, Du H, Marafi D, Blaser S, Teitelbaum R, Silver R; Baylor-Hopkins Center for Mendelian Genomics, Posey JE, Ropers HH, Gibbs RA, Wiszniewski W, Lupski JR, Chitayat D, Kahrizi K, Gawlinski P.

Am J Hum Genet. 2019 Nov 7;105(5):1005-1015. doi: 10.1016/j.ajhg.2019.09.017. Epub 2019 Oct 17.

PMID:
31630790
32.

Paulus of Aegina and the Historical Origins of Spine Surgery.

Jang K, Rosenfeld JV, Di Ieva A.

World Neurosurg. 2020 Jan;133:291-301. doi: 10.1016/j.wneu.2019.10.026. Epub 2019 Oct 15. Review.

PMID:
31627004
33.

Model system identification of novel congenital heart disease gene candidates: focus on RPL13.

Schroeder AM, Allahyari M, Vogler G, Missinato MA, Nielsen T, Yu MS, Theis JL, Larsen LA, Goyal P, Rosenfeld JA, Nelson TJ, Olson TM, Colas AR, Grossfeld P, Bodmer R.

Hum Mol Genet. 2019 Dec 1;28(23):3954-3969. doi: 10.1093/hmg/ddz213.

PMID:
31625562
34.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K; University of Washington Center for Mendelian Genomics, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE.

Nat Commun. 2019 Oct 15;10(1):4679. doi: 10.1038/s41467-019-12435-8.

35.

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.

36.

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study, Klee EW, Lefebvre V, Clark KJ, Depienne C.

Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3.

PMID:
31578471
37.

Characterization of the renal phenotype in RMND1-related mitochondrial disease.

Shayota BJ, Le NT, Bekheirnia N, Rosenfeld JA, Goldstein AC, Moritz M, Bartholomew DW, Pastore MT, Xia F, Eng C, Yang Y, Lamb DJ, Scaglia F, Braun MC, Bekheirnia MR.

Mol Genet Genomic Med. 2019 Dec;7(12):e973. doi: 10.1002/mgg3.973. Epub 2019 Sep 30.

38.

TCF4 induces enzalutamide resistance via neuroendocrine differentiation in prostate cancer.

Lee GT, Rosenfeld JA, Kim WT, Kwon YS, Palapattu G, Mehra R, Kim WJ, Kim IY.

PLoS One. 2019 Sep 19;14(9):e0213488. doi: 10.1371/journal.pone.0213488. eCollection 2019.

39.

Bifid Facial Nerve with Dual Origin Identified During Resection of Vestibular Schwannoma.

Harley B, Rosenfeld JV, Cousins V.

World Neurosurg. 2019 Dec;132:375-376. doi: 10.1016/j.wneu.2019.08.213. Epub 2019 Sep 4.

PMID:
31493615
40.

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.

Reuter CM, Kohler JN, Bonner D, Zastrow D, Fernandez L, Dries A, Marwaha S, Davidson J, Brokamp E, Herzog M, Hong J, Macnamara E, Rosenfeld JA, Schoch K, Spillmann R; Undiagnosed Diseases Network, Loscalzo J, Krier J, Stoler J, Sweetser D, Palmer CGS, Phillips JA, Shashi V, Adams DA, Yang Y, Ashley EA, Fisher PG, Mulvihill JJ, Bernstein JA, Wheeler MT.

J Genet Couns. 2019 Dec;28(6):1107-1118. doi: 10.1002/jgc4.1161. Epub 2019 Sep 3.

PMID:
31478310
41.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V; Undiagnosed Diseases Network, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gécz J, Jolly LA.

Biol Psychiatry. 2020 Jan 15;87(2):100-112. doi: 10.1016/j.biopsych.2019.05.028. Epub 2019 Jun 29.

PMID:
31443933
42.

Deleterious effects of probe-related versus irrelevant targets on the "CIT effect" in the P300- and RT-based three-stimulus protocol for detection of concealed information.

Olson J, Rosenfeld JP, Perrault E.

Psychophysiology. 2019 Dec;56(12):e13459. doi: 10.1111/psyp.13459. Epub 2019 Aug 19.

PMID:
31424105
43.

Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer.

Nissim S, Leshchiner I, Mancias JD, Greenblatt MB, Maertens O, Cassa CA, Rosenfeld JA, Cox AG, Hedgepeth J, Wucherpfennig JI, Kim AJ, Henderson JE, Gonyo P, Brandt A, Lorimer E, Unger B, Prokop JW, Heidel JR, Wang XX, Ukaegbu CI, Jennings BC, Paulo JA, Gableske S, Fierke CA, Getz G, Sunyaev SR, Wade Harper J, Cichowski K, Kimmelman AC, Houvras Y, Syngal S, Williams C, Goessling W.

Nat Genet. 2019 Sep;51(9):1308-1314. doi: 10.1038/s41588-019-0475-y. Epub 2019 Aug 12.

PMID:
31406347
44.

Advanced 3D printed model of middle cerebral artery aneurysms for neurosurgery simulation.

Nagassa RG, McMenamin PG, Adams JW, Quayle MR, Rosenfeld JV.

3D Print Med. 2019 Aug 1;5(1):11. doi: 10.1186/s41205-019-0048-9.

45.

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 Nov;21(11):2663. doi: 10.1038/s41436-019-0590-2.

PMID:
31267042
46.

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, Al-Gazali L, 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 Dec;21(12):2755-2764. doi: 10.1038/s41436-019-0576-0. Epub 2019 Jul 2. Erratum in: Genet Med. 2019 Dec 20;:.

47.

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 Aug 1;105(2):384-394. doi: 10.1016/j.ajhg.2019.05.019. Epub 2019 Jun 27.

48.

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
49.

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.

50.

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 Dec;21(12):2713-2722. doi: 10.1038/s41436-019-0557-3. Epub 2019 Jun 3. Erratum in: Genet Med. 2019 Jul 3;:.

PMID:
31155615

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