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Items: 1 to 50 of 228

1.

Uveitis and optic perineuritis in the context of myelin oligodendrocyte glycoprotein antibody seropositivity.

Ramanathan S, Fraser C, Curnow SR, Ghaly M, Leventer RJ, Lechner-Scott J, Henderson A, Reddel S, Dale RC, Brilot F.

Eur J Neurol. 2019 Feb 12. doi: 10.1111/ene.13932. [Epub ahead of print]

PMID:
30748058
2.

Therapeutic plasma exchange in paediatric neuroimmunology: some evidence but more is needed.

Nosadini M, Dale RC.

Dev Med Child Neurol. 2019 Feb 7. doi: 10.1111/dmcn.14190. [Epub ahead of print] No abstract available.

PMID:
30734269
3.

Maternal thyroid autoimmunity associated with acute-onset neuropsychiatric disorders and global regression in offspring.

Jones HF, Ho ACC, Sharma S, Mohammad SS, Kothur K, Patel S, Brilot F, Guastella AJ, Dale RC; Immune-Neurodevelopment (Imm-Nd) Study Group.

Dev Med Child Neurol. 2019 Feb 5. doi: 10.1111/dmcn.14167. [Epub ahead of print]

PMID:
30720202
4.

Magnetic resonance imaging in enterovirus-71, myelin oligodendrocyte glycoprotein antibody, aquaporin-4 antibody, and multiple sclerosis-associated myelitis in children.

Tantsis EM, Prelog K, Alper G, Benson L, Gorman M, Lim M, Mohammad SS, Ramanathan S, Brilot F, Dale RC; Paediatric Myelitis Mri Study Group.

Dev Med Child Neurol. 2018 Dec 10. doi: 10.1111/dmcn.14114. [Epub ahead of print]

PMID:
30537075
5.

An exploratory study into an adapted use of the Alert Program for tic disorder in children.

Soler N, Hardwick C, Perkes IE, Dossetor D, Bray P, Dale RC.

Australas Psychiatry. 2018 Dec 3:1039856218815750. doi: 10.1177/1039856218815750. [Epub ahead of print]

PMID:
30501513
6.

Author Correction: Neuroimmune disorders of the central nervous system in children in the molecular era.

Wells E, Hacohen Y, Waldman A, Tillema JM, Soldatos A, Ances B, Benseler S, Bielekova B, Dale RC, Dalmau J, Gaillard W, Gorman M, Greenberg B, Hyslop A, Pardo CA, Tasker RC, Yeh EA, Bar-Or A, Pittock S, Vanderver A, Banwell B; attendees of the International Neuroimmune Meeting.

Nat Rev Neurol. 2018 Dec;14(12):749. doi: 10.1038/s41582-018-0077-9.

PMID:
30442924
7.

Mycophenolate mofetil, azathioprine and methotrexate usage in paediatric anti-NMDAR encephalitis: A systematic literature review.

Nosadini M, Mohammad SS, Toldo I, Sartori S, Dale RC.

Eur J Paediatr Neurol. 2019 Jan;23(1):7-18. doi: 10.1016/j.ejpn.2018.09.008. Epub 2018 Sep 27. Review.

PMID:
30318435
8.

CSF neopterin, a useful biomarker in children presenting with influenza associated encephalopathy?

Macdonald-Laurs E, Koirala A, Britton PN, Rawlinson W, Hiew CC, Mcrae J, Dale RC, Jones C, Macartney K, McMullan B, Pillai S.

Eur J Paediatr Neurol. 2019 Jan;23(1):204-213. doi: 10.1016/j.ejpn.2018.09.009. Epub 2018 Sep 28.

PMID:
30316638
9.

Tics and Tourette syndrome.

Efron D, Dale RC.

J Paediatr Child Health. 2018 Oct;54(10):1148-1153. doi: 10.1111/jpc.14165. Review.

PMID:
30294996
10.

Australian Clinical Consensus Guideline: The diagnosis and acute management of childhood stroke.

Medley TL, Miteff C, Andrews I, Ware T, Cheung M, Monagle P, Mandelstam S, Wray A, Pridmore C, Troedson C, Dale RC, Fahey M, Sinclair A, Walsh P, Stojanovski B, Mackay MT.

Int J Stroke. 2018 Oct 4:1747493018799958. doi: 10.1177/1747493018799958. [Epub ahead of print]

PMID:
30284961
11.

[MOG encephalomyelitis: international recommendations on diagnosis and antibody testing].

Jarius S, Paul F, Aktas O, Asgari N, Dale RC, de Seze J, Franciotta D, Fujihara K, Jacob A, Kim HJ, Kleiter I, Kümpfel T, Levy M, Palace J, Ruprecht K, Saiz A, Trebst C, Weinshenker BG, Wildemann B.

Nervenarzt. 2018 Dec;89(12):1388-1399. doi: 10.1007/s00115-018-0607-0. Review. German.

PMID:
30264269
12.

Isolated seizures during the first episode of relapsing myelin oligodendrocyte glycoprotein antibody-associated demyelination in children.

Ramanathan S, O'grady GL, Malone S, Spooner CG, Brown DA, Gill D, Brilot F, Dale RC.

Dev Med Child Neurol. 2018 Sep 17. doi: 10.1111/dmcn.14032. [Epub ahead of print]

PMID:
30221764
13.

Mycophenolate mofetil in paediatric autoimmune or immune-mediated diseases of the central nervous system: clinical experience and recommendations.

Nosadini M, Gadian J, Lim M, Sartori S, Thomas T, Dale RC.

Dev Med Child Neurol. 2018 Sep 17. doi: 10.1111/dmcn.14020. [Epub ahead of print]

PMID:
30221751
14.

Elevation of cerebrospinal fluid cytokine/chemokines involved in innate, T cell, and granulocyte inflammation in pediatric focal cerebral arteriopathy.

Kothur K, Troedson C, Webster R, Bandodkar S, Chu S, Wienholt L, Pope A, Mackay MT, Dale RC.

Int J Stroke. 2018 Sep 13:1747493018799975. doi: 10.1177/1747493018799975. [Epub ahead of print]

PMID:
30209990
15.

Blood CRP levels are elevated in children and adolescents with functional neurological symptom disorder.

Kozlowska K, Chung J, Cruickshank B, McLean L, Scher S, Dale RC, Mohammad SS, Singh-Grewal D, Prabhuswamy MY, Patrick E.

Eur Child Adolesc Psychiatry. 2018 Aug 24. doi: 10.1007/s00787-018-1212-2. [Epub ahead of print]

PMID:
30143887
16.

Glutamate receptor δ2 serum antibodies in pediatric opsoclonus myoclonus ataxia syndrome.

Berridge G, Menassa DA, Moloney T, Waters PJ, Welding I, Thomsen S, Zuberi S, Fischer R, Aricescu AR, Pike M, Dale RC, Kessler B, Vincent A, Lim M, Irani SR, Lang B.

Neurology. 2018 Aug 21;91(8):e714-e723. doi: 10.1212/WNL.0000000000006035. Epub 2018 Jul 25.

17.

The Movement disorder associated with NMDAR antibody-encephalitis is complex and characteristic: an expert video-rating study.

Varley JA, Webb AJS, Balint B, Fung VSC, Sethi KD, Tijssen MAJ, Lynch T, Mohammad SS, Britton F, Evans M, Hacohen Y, Lin JP, Nardocci N, Granata T, Dale RC, Lim MJ, Bhatia KP, Lang AE, Irani SR.

J Neurol Neurosurg Psychiatry. 2018 Jul 21. pii: jnnp-2018-318584. doi: 10.1136/jnnp-2018-318584. [Epub ahead of print] No abstract available.

18.

Neuroimmune disorders of the central nervous system in children in the molecular era.

Wells E, Hacohen Y, Waldman A, Tillema JM, Soldatos A, Ances B, Benseler S, Bielekova B, Dale RC, Dalmau J, Gaillard W, Gorman M, Greenberg B, Hyslop A, Pardo CA, Tasker RC, Yeh EA, Bar-Or A, Pittock S, Vanderver A, Banwell B; attendees of the International Neuroimmune Meeting.

Nat Rev Neurol. 2018 Jul;14(7):433-445. doi: 10.1038/s41582-018-0024-9. Review. Erratum in: Nat Rev Neurol. 2018 Dec;14(12):749.

PMID:
29925924
19.

Infection-triggered autoimmunity: The case of herpes simplex virus type 1 and anti-NMDAR antibodies.

Dale RC, Nosadini M.

Neurol Neuroimmunol Neuroinflamm. 2018 Jun 11;5(4):e471. doi: 10.1212/NXI.0000000000000471. eCollection 2018 Jul. No abstract available.

20.

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Kothur K, Holman K, Farnsworth E, Ho G, Lorentzos M, Troedson C, Gupta S, Webster R, Procopis PG, Menezes MP, Antony J, Ardern-Holmes S, Dale RC, Christodoulou J, Gill D, Bennetts B.

Seizure. 2018 Jul;59:132-140. doi: 10.1016/j.seizure.2018.05.005. Epub 2018 May 28.

PMID:
29852413
21.

MOG encephalomyelitis: international recommendations on diagnosis and antibody testing.

Jarius S, Paul F, Aktas O, Asgari N, Dale RC, de Seze J, Franciotta D, Fujihara K, Jacob A, Kim HJ, Kleiter I, Kümpfel T, Levy M, Palace J, Ruprecht K, Saiz A, Trebst C, Weinshenker BG, Wildemann B.

J Neuroinflammation. 2018 May 3;15(1):134. doi: 10.1186/s12974-018-1144-2. Review.

22.

An open-label trial of JAK 1/2 blockade in progressive IFIH1-associated neuroinflammation.

Kothur K, Bandodkar S, Chu S, Wienholt L, Johnson A, Barclay P, Brogan PA, Rice GI, Crow YJ, Dale RC.

Neurology. 2018 Feb 6;90(6):289-291. doi: 10.1212/WNL.0000000000004921. Epub 2018 Jan 10. No abstract available.

PMID:
29321238
23.

Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy.

Pederick DT, Richards KL, Piltz SG, Kumar R, Mincheva-Tasheva S, Mandelstam SA, Dale RC, Scheffer IE, Gecz J, Petrou S, Hughes JN, Thomas PQ.

Neuron. 2018 Jan 3;97(1):59-66.e5. doi: 10.1016/j.neuron.2017.12.005.

24.

Principles and approaches to the treatment of immune-mediated movement disorders.

Mohammad SS, Dale RC.

Eur J Paediatr Neurol. 2018 Mar;22(2):292-300. doi: 10.1016/j.ejpn.2017.11.010. Epub 2017 Dec 19. Review.

PMID:
29289523
25.

EEG background activity and extreme delta brush in children with anti-NMDAR encephalitis.

Mohammad SS, Dale RC.

Eur J Paediatr Neurol. 2018 Jan;22(1):207-208. doi: 10.1016/j.ejpn.2017.09.013. Epub 2017 Nov 24. No abstract available.

PMID:
29198503
26.

Clinical course, therapeutic responses and outcomes in relapsing MOG antibody-associated demyelination.

Ramanathan S, Mohammad S, Tantsis E, Nguyen TK, Merheb V, Fung VSC, White OB, Broadley S, Lechner-Scott J, Vucic S, Henderson APD, Barnett MH, Reddel SW, Brilot F, Dale RC; Australasian and New Zealand MOG Study Group.

J Neurol Neurosurg Psychiatry. 2018 Feb;89(2):127-137. doi: 10.1136/jnnp-2017-316880. Epub 2017 Nov 15.

27.

Immunotherapeutics in Pediatric Autoimmune Central Nervous System Disease: Agents and Mechanisms.

Nosadini M, Sartori S, Sharma S, Dale RC.

Semin Pediatr Neurol. 2017 Aug;24(3):214-228. doi: 10.1016/j.spen.2017.08.002. Epub 2017 Aug 16. Review.

PMID:
29103429
28.

Seizure outcome after corpus callosotomy in a large paediatric series.

Graham D, Gill D, Dale RC, Tisdall MM; Corpus Callosotomy Outcomes Study Group.

Dev Med Child Neurol. 2018 Feb;60(2):199-206. doi: 10.1111/dmcn.13592. Epub 2017 Oct 23.

29.

The Spectrum and Burden of Influenza-Associated Neurological Disease in Children: Combined Encephalitis and Influenza Sentinel Site Surveillance From Australia, 2013-2015.

Britton PN, Blyth CC, Macartney K, Dale RC, Li-Kim-Moy J, Khandaker G, Crawford NW, Marshall H, Clark JE, Elliott EJ, Booy R, Cheng AC, Jones CA; Australian Childhood Encephalitis (ACE) Study Investigators, Influenza Complications Alert Network (FluCAN) Investigators, and Paediatric Active Enhanced Disease Surveillance (PAEDS) Network.

Clin Infect Dis. 2017 Aug 15;65(4):653-660. doi: 10.1093/cid/cix412.

PMID:
29017268
30.

Social impairments in autism spectrum disorder are related to maternal immune history profile.

Patel S, Masi A, Dale RC, Whitehouse AJO, Pokorski I, Alvares GA, Hickie IB, Breen E, Guastella AJ.

Mol Psychiatry. 2018 Aug;23(8):1794-1797. doi: 10.1038/mp.2017.201. Epub 2017 Oct 10.

PMID:
28993711
31.

High sensitivity and specificity in proposed clinical diagnostic criteria for anti-N-methyl-D-aspartate receptor encephalitis.

Ho ACC, Mohammad SS, Pillai SC, Tantsis E, Jones H, Ho R, Lim M, Hacohen Y, Vincent A, Dale RC.

Dev Med Child Neurol. 2017 Dec;59(12):1256-1260. doi: 10.1111/dmcn.13579. Epub 2017 Oct 3.

32.

Tics and Tourette: a clinical, pathophysiological and etiological review.

Dale RC.

Curr Opin Pediatr. 2017 Dec;29(6):665-673. doi: 10.1097/MOP.0000000000000546. Review.

PMID:
28915150
33.

The Immune System in Pediatric Seizures and Epilepsies.

Korff CM, Dale RC.

Pediatrics. 2017 Sep;140(3). pii: e20163534. doi: 10.1542/peds.2016-3534. Epub 2017 Aug 9. Review.

34.

Hashimoto's encephalopathy and anti-MOG antibody encephalitis: 50 years after Lord Brain's description.

Chen KA, Brilot F, Dale RC, Lafferty AR, Andrews PI.

Eur J Paediatr Neurol. 2017 Nov;21(6):898-901. doi: 10.1016/j.ejpn.2017.06.002. Epub 2017 Jun 10.

PMID:
28694134
35.

GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS.

Waak M, Mohammad SS, Coman D, Sinclair K, Copeland L, Silburn P, Coyne T, McGill J, O'Regan M, Selway R, Symonds J, Grattan-Smith P, Lin JP, Dale RC, Malone S.

J Neurol Neurosurg Psychiatry. 2018 Feb;89(2):221-222. doi: 10.1136/jnnp-2017-315653. Epub 2017 Jul 1. No abstract available.

PMID:
28668776
36.

Influenza-associated Encephalitis/Encephalopathy Identified by the Australian Childhood Encephalitis Study 2013-2015.

Britton PN, Dale RC, Blyth CC, Macartney K, Crawford NW, Marshall H, Clark JE, Elliott EJ, Webster RI, Cheng AC, Booy R, Jones CA; ACE study investigators and PAEDS network.

Pediatr Infect Dis J. 2017 Nov;36(11):1021-1026. doi: 10.1097/INF.0000000000001650.

PMID:
28654561
37.

Expanding Role of T Cells in Human Autoimmune Diseases of the Central Nervous System.

Pilli D, Zou A, Tea F, Dale RC, Brilot F.

Front Immunol. 2017 Jun 7;8:652. doi: 10.3389/fimmu.2017.00652. eCollection 2017. Review.

38.

Maternal autoimmunity: risk of neurodevelopmental and neuropsychiatric outcomes.

Dale RC, Barnett MH, Kiernan MC.

J Neurol Neurosurg Psychiatry. 2017 Sep;88(9):713-714. doi: 10.1136/jnnp-2017-315724. Epub 2017 Jun 8. No abstract available.

PMID:
28596249
39.

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ.

Neuropediatrics. 2017 Jun;48(3):166-184. doi: 10.1055/s-0037-1601449. Epub 2017 Apr 10.

40.

Incidence and prevalence of NMOSD in Australia and New Zealand.

Bukhari W, Prain KM, Waters P, Woodhall M, O'Gorman CM, Clarke L, Silvestrini RA, Bundell CS, Abernethy D, Bhuta S, Blum S, Boggild M, Boundy K, Brew BJ, Brown M, Brownlee WJ, Butzkueven H, Carroll WM, Chen C, Coulthard A, Dale RC, Das C, Dear K, Fabis-Pedrini MJ, Fulcher D, Gillis D, Hawke S, Heard R, Henderson APD, Heshmat S, Hodgkinson S, Jimenez-Sanchez S, Killpatrick T, King J, Kneebone C, Kornberg AJ, Lechner-Scott J, Lin MW, Lynch C, Macdonell R, Mason DF, McCombe PA, Pender MP, Pereira JA, Pollard JD, Reddel SW, Shaw C, Spies J, Stankovich J, Sutton I, Vucic S, Walsh M, Wong RC, Yiu EM, Barnett MH, Kermode AG, Marriott MP, Parratt JDE, Slee M, Taylor BV, Willoughby E, Wilson RJ, Vincent A, Broadley SA.

J Neurol Neurosurg Psychiatry. 2017 Aug;88(8):632-638. doi: 10.1136/jnnp-2016-314839. Epub 2017 May 26.

PMID:
28550069
41.

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJH, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969b. No abstract available.

PMID:
28546572
42.

A review of psychiatric co-morbidity described in genetic and immune mediated movement disorders.

Peall KJ, Lorentzos MS, Heyman I, Tijssen MAJ, Owen MJ, Dale RC, Kurian MA.

Neurosci Biobehav Rev. 2017 Sep;80:23-35. doi: 10.1016/j.neubiorev.2017.05.014. Epub 2017 May 18. Review.

PMID:
28528196
43.

The Spectrum and Burden of Influenza-Associated Neurological Disease in Children: Combined Encephalitis and Influenza Sentinel Site Surveillance from Australia 2013-2015.

Britton PN, Blyth CC, Macartney K, Dale RC, Li-Kim-Moy J, Khandaker G, Crawford N, Marshall H, Clark J, Elliott E, Booy R, Cheng AC, Jones CA; ACE study investigators, FluCAN investigators and PAEDS network.

Clin Infect Dis. 2017 Apr 29. doi: 10.1093/cid/cix412. [Epub ahead of print]

PMID:
28460008
44.

Cerebrospinal fluid cyto-/chemokine profile during acute herpes simplex virus induced anti-N-methyl-d-aspartate receptor encephalitis and in chronic neurological sequelae.

Kothur K, Gill D, Wong M, Mohammad SS, Bandodkar S, Arbunckle S, Wienholt L, Dale RC.

Dev Med Child Neurol. 2017 Aug;59(8):806-814. doi: 10.1111/dmcn.13431. Epub 2017 Apr 25.

45.

Herpes simplex virus-induced anti-N-methyl-d-aspartate receptor encephalitis: a systematic literature review with analysis of 43 cases.

Nosadini M, Mohammad SS, Corazza F, Ruga EM, Kothur K, Perilongo G, Frigo AC, Toldo I, Dale RC, Sartori S.

Dev Med Child Neurol. 2017 Aug;59(8):796-805. doi: 10.1111/dmcn.13448. Epub 2017 Apr 25. Review.

46.

Cell surface antibody-associated neurodegeneration: The case of anti-IgLON5 antibodies.

Dale RC, Ramanathan S.

Neurology. 2017 May 2;88(18):1688-1690. doi: 10.1212/WNL.0000000000003931. Epub 2017 Apr 5. No abstract available.

PMID:
28381512
47.

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Danti FR, Galosi S, Romani M, Montomoli M, Carss KJ, Raymond FL, Parrini E, Bianchini C, McShane T, Dale RC, Mohammad SS, Shah U, Mahant N, Ng J, McTague A, Samanta R, Vadlamani G, Valente EM, Leuzzi V, Kurian MA, Guerrini R.

Neurol Genet. 2017 Mar 21;3(2):e143. doi: 10.1212/NXG.0000000000000143. eCollection 2017 Apr.

48.

Anti-N-methyl-d-aspartate receptor encephalitis in Māori and Pacific Island children in New Zealand.

Jones HF, Mohammad SS, Reed PW, Dunn PPJ, Steele RH, Dale RC, Sharpe C.

Dev Med Child Neurol. 2017 Jul;59(7):719-724. doi: 10.1111/dmcn.13420. Epub 2017 Mar 22.

49.

Autoimmune encephalitis in children: clinical phenomenology, therapeutics, and emerging challenges.

Dale RC, Gorman MP, Lim M.

Curr Opin Neurol. 2017 Jun;30(3):334-344. doi: 10.1097/WCO.0000000000000443. Review.

PMID:
28234797
50.

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA.

Nat Genet. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. Epub 2016 Dec 19. Erratum in: Nat Genet. 2017 May 26;49(6):969.

PMID:
27992417

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