Details of Disease

General Information of Disease (ID: DISZD2ZL)

• Disease Name: Medulloblastoma
• Synonyms: medulloblastoma with extensive nodularity; CPNET; infratentorial primitive neuroectodermal tumor; medulloblastoma, desmoplastic; MDB; localised primitive neuroectodermal tumour; CNS PNET; localized primitive neuroectodermal tumor; infratentorial primitive neuroectodermal tumour; medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation; cerebellum embryonal neoplasm; medulloblastoma; medulloblastomas; cerebellar medulloblastoma; brain medulloblastoma; medulloblastoma, somatic; medulloblastoma, malignant; medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation
• Disease Class: 2A00: Brain cancer
• Definition: A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.
• Disease Hierarchy:
  DIS5MQSB: Embryonal neoplasm
  DIS859E0: Cerebellar neoplasm
  DISZD2ZL: Medulloblastoma
• ICD Code:
  ICD-11: ICD-11: 2A00.10
  ICD-10: ICD-10: C71.6
  ICD-9: ICD-9: 191
  Expand ICD-11: 'XH8P29
  Expand ICD-9: 191
• Disease Identifiers:
  MONDO ID: MONDO_0007959
  MESH ID: D008527
  UMLS CUI: C0025149
  OMIM ID: 155255
  MedGen ID: 7517
  HPO ID: HP:0002885
  Orphanet ID: 616
  SNOMED CT ID: 1156923005

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 7 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
CX-072	DMVZT2I	Phase 2	Antibody	[1]
LDE225	DMM9F25	Phase 2	Small molecular drug	[2]
MNX-100	DMQA3MV	Phase 2	NA	[2]
MV-NIS	DMGOLCU	Phase 2	Oncolytic virus therapy	[2]
EGFR806-specific CAR T cell	DM3AD65	Phase 1	CAR T Cell Therapy	[3]
HER2-specific CAR T cell	DMJKBWO	Phase 1	CAR T Cell Therapy	[4]
PEP-CMV	DMLOWQ6	Phase 1	Vaccine	[5]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 136 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BRD2	TTDP48B	Limited	Biomarker	[6]
BRD3	TTHE657	Limited	Biomarker	[6]
CHRM2	TTYEG6Q	Limited	Biomarker	[7]
DNMT1	TT6S2FE	Limited	Biomarker	[8]
ELP1	TTY2XZ0	Limited	Autosomal dominant	[9]
ESR2	TTOM3J0	Limited	Biomarker	[10]
IDH1	TTV2A1R	Limited	Altered Expression	[11]
SMO	TTW6JVU	Limited	Autosomal dominant	[9]
ZFAND5	TTLFY3S	Limited	Altered Expression	[12]
ASPH	TT2KHP7	moderate	Altered Expression	[13]
CDKN2C	TTBRUGA	moderate	Biomarker	[14]
ERBB4	TTWALCO	moderate	Biomarker	[15]
LIF	TTGZ5WN	moderate	Biomarker	[16]
MGMT	TTJ8DV7	moderate	Altered Expression	[17]
NTRK3	TTXABCW	moderate	Biomarker	[18]
ADAM8	TTQWYMD	Strong	Altered Expression	[19]
ALK	TTPMQSO	Strong	Biomarker	[20]
BCAT1	TTES57P	Strong	Altered Expression	[21]
BMI1	TTIPNSR	Strong	Biomarker	[22]
BRCA2	TTUARD6	Strong	Biomarker	[23]
BRD4	TTSRAOU	Strong	Biomarker	[24]
BRPF1	TTT46BN	Strong	Biomarker	[25]
C3AR1	TTI6B3F	Strong	Altered Expression	[26]
CCNB1	TT9P6OW	Strong	Biomarker	[27]
CDC25A	TTLZS4Q	Strong	Biomarker	[28]
CDH5	TTXLCFO	Strong	Biomarker	[29]
CDK6	TTO0FDJ	Strong	Biomarker	[30]
COL1A2	TTUABC1	Strong	Altered Expression	[31]
CREBBP	TTFRCTK	Strong	Genetic Variation	[32]
CSNK1A1	TTFQEMX	Strong	Biomarker	[33]
DHFR	TTYZVDJ	Strong	Biomarker	[34]
DKK3	TTY2ZV6	Strong	Altered Expression	[35]
DTL	TT8396I	Strong	Biomarker	[36]
EEF2K	TT1QFLA	Strong	Altered Expression	[37]
EIF5A2	TTH53G9	Strong	Biomarker	[38]
ELAVL1	TTPC9D0	Strong	Altered Expression	[39]
EP300	TTGH73N	Strong	Genetic Variation	[32]
EPHA1	TTLFZVU	Strong	Biomarker	[40]
EPHA7	TTAHTVG	Strong	Biomarker	[41]
ERBB2	TTR5TV4	Strong	Biomarker	[42]
ESRRB	TTKF0XS	Strong	Altered Expression	[43]
FBXW7	TT29KY7	Strong	Genetic Variation	[32]
FECH	TTQ6VF4	Strong	Altered Expression	[44]
FUT4	TTNV1KZ	Strong	Biomarker	[45]
GABRA5	TTNZPQ1	Strong	Biomarker	[46]
GFAP	TTI6FFX	Strong	Biomarker	[47]
GLI1	TTJOMH6	Strong	Biomarker	[48]
GLI2	TT045OH	Strong	Genetic Variation	[49]
GNRH1	TT0ID4A	Strong	Biomarker	[50]
GPR137	TTATO6X	Strong	Biomarker	[51]
GRB2	TTEYRJ9	Strong	Biomarker	[52]
GRIA1	TTVPQTF	Strong	Altered Expression	[53]
GRK5	TTTCXO0	Strong	Biomarker	[54]
GRM4	TTICZ1O	Strong	Biomarker	[55]
GRPR	TTC1MVT	Strong	Biomarker	[56]
HDAC1	TT6R7JZ	Strong	Altered Expression	[57]
HDAC5	TTUELN5	Strong	Biomarker	[58]
HMGA1	TTBA219	Strong	Biomarker	[59]
HOXA5	TTXSVQP	Strong	Altered Expression	[46]
IDUA	TT0IUKX	Strong	Biomarker	[60]
IRS1	TTAJSQ0	Strong	Biomarker	[61]
JAG2	TTOJY1B	Strong	Biomarker	[62]
KCNA1	TTS3DIK	Strong	Biomarker	[63]
KCNH5	TTX8LQ0	Strong	Biomarker	[64]
KDM1A	TTNR0UQ	Strong	Biomarker	[65]
KDM6B	TTDIJUQ	Strong	Altered Expression	[66]
KMT5A	TTGC95K	Strong	Biomarker	[67]
LASP1	TTZJA87	Strong	Altered Expression	[68]
LIFR	TTID542	Strong	Biomarker	[69]
MAP2K2	TT8H9GB	Strong	Biomarker	[70]
MAP2K5	TTV3O87	Strong	Altered Expression	[71]
MAP3K1	TTW8TJI	Strong	Biomarker	[48]
MAP3K2	TTIX0ZU	Strong	Altered Expression	[72]
MAP3K20	TTTUZ3O	Strong	Biomarker	[73]
MAP3K3	TTJZNIG	Strong	Altered Expression	[72]
MAP4K1	TTSHWUP	Strong	Biomarker	[74]
MAP4K4	TT6NI13	Strong	Altered Expression	[75]
MCM7	TT1RM3F	Strong	Altered Expression	[76]
MELK	TTBZOTY	Strong	Biomarker	[77]
METAP2	TTZL0OI	Strong	Biomarker	[78]
MKNK1	TTEZAUX	Strong	Biomarker	[79]
MKNK2	TTRECN3	Strong	Biomarker	[79]
MMP15	TTNSTO3	Strong	Biomarker	[80]
MSI1	TTSM4BA	Strong	Biomarker	[81]
NES	TTHZ752	Strong	Biomarker	[82]
NGFR	TTEDJN4	Strong	Biomarker	[83]
NPR3	TTWVLS6	Strong	Altered Expression	[84]
NRAS	TTW2R9X	Strong	Genetic Variation	[32]
NRP2	TTRXUVC	Strong	Altered Expression	[85]
NTF3	TTZHKV9	Strong	Biomarker	[86]
PAWR	TT3I4WV	Strong	Altered Expression	[87]
PAX5	TTA4REJ	Strong	Biomarker	[88]
PDGFB	TTQA6SX	Strong	Altered Expression	[89]
PDGFC	TTOABM9	Strong	Altered Expression	[89]
PDGFD	TTSN0GA	Strong	Altered Expression	[90]
PDGFRA	TT8FYO9	Strong	Altered Expression	[91]
PIK3CG	TTHBTOP	Strong	Biomarker	[92]
PIN1	TTJNTSI	Strong	Biomarker	[93]
PLK1	TTH4IP0	Strong	Biomarker	[24]
PLK4	TTGPNZQ	Strong	Altered Expression	[94]
PNMT	TT0NZIC	Strong	Biomarker	[95]
POLB	TTA0XPV	Strong	Biomarker	[96]
PPM1D	TTENJAB	Strong	Biomarker	[97]
PRAME	TTPH7T0	Strong	Biomarker	[98]
PSCA	TT9T4AV	Strong	Altered Expression	[99]
PSMB6	TT8EPLT	Strong	Genetic Variation	[100]
RBPJ	TT72D4Z	Strong	Altered Expression	[101]
RICTOR	TT143WL	Strong	Biomarker	[102]
RRM1	TTWP0NS	Strong	Genetic Variation	[103]
S100A4	TTPR5SX	Strong	Biomarker	[104]
S100A6	TT716MY	Strong	Biomarker	[104]
SCARB1	TTRE324	Strong	Biomarker	[105]
SCN8A	TT54ERL	Strong	Biomarker	[106]
SH3GL1	TTTYNAM	Strong	Altered Expression	[107]
SLC1A2	TT2F078	Strong	Biomarker	[108]
SLC8A1	TTCF82X	Strong	Altered Expression	[109]
SMO	TT8J1S3	Strong	Genetic Variation	[110]
SNAP25	TTYQWA0	Strong	Biomarker	[111]
SSTR2	TTZ6T9E	Strong	Altered Expression	[112]
STAT3	TTHJT3X	Strong	Biomarker	[113]
TNKS	TTVUSO7	Strong	Biomarker	[114]
TOP2B	TT4NVEM	Strong	Biomarker	[115]
TRIM59	TT613U4	Strong	Biomarker	[116]
TRPC4	TTX0H5W	Strong	Altered Expression	[117]
USP37	TTJDELN	Strong	Biomarker	[118]
WEE1	TTJFOAL	Strong	Biomarker	[119]
YAP1	TT8UN2D	Strong	Biomarker	[120]
CCNE1	TTCEJ4F	Definitive	Biomarker	[121]
DRD4	TTE0A2F	Definitive	Biomarker	[122]
EHMT1	TTOFXD7	Definitive	Biomarker	[121]
IRS2	TTF95B8	Definitive	Biomarker	[121]
KAT6A	TT6O1J0	Definitive	Biomarker	[121]
KDM4C	TTV8CRH	Definitive	Biomarker	[121]
L3MBTL3	TTQDMJN	Definitive	Biomarker	[121]
MPL	TTIHYA4	Definitive	Biomarker	[121]
SKP2	TT5B2EO	Definitive	Biomarker	[121]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A16	DTNU9EW	Strong	Altered Expression	[123]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ASMT	DEHGR57	moderate	Biomarker	[124]
CRMP1	DE0EUXB	Strong	Biomarker	[125]

This Disease Is Related to 232 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APC	OTKV0TIK	Limited	Genetic Variation	[126]
DMBX1	OT43YF6N	Limited	Biomarker	[127]
ELP1	OTYEWBF7	Limited	Autosomal dominant	[9]
INPP5E	OTJF2AZ9	Limited	Biomarker	[128]
MXD3	OT4U88UP	Limited	Altered Expression	[129]
RFX1	OTZUDMPR	Limited	Altered Expression	[130]
SMO	OTXXE208	Limited	Autosomal dominant	[9]
MXI1	OTUQ9E0D	Disputed	Biomarker	[131]
ATF5	OT03QCLM	moderate	Altered Expression	[132]
BTRC	OT2EZDGR	moderate	Genetic Variation	[133]
CHPT1	OT4FJ0K3	moderate	Biomarker	[134]
DHDDS	OTVLYBUS	moderate	Biomarker	[134]
HAND1	OTN4IPVV	moderate	Altered Expression	[135]
HCLS1	OTX7WGYN	moderate	Biomarker	[136]
KDM6A	OTZM3MJJ	moderate	Altered Expression	[66]
KHSRP	OTDHZARB	moderate	Biomarker	[136]
OTX1	OTRGSGH9	moderate	Biomarker	[137]
PMS2	OTNLWTMI	moderate	Genetic Variation	[138]
PTCH2	OTOQ0K9V	moderate	Genetic Variation	[139]
SFRP1	OT0U9G41	moderate	Biomarker	[140]
SIGLEC7	OTNDLURR	moderate	Biomarker	[136]
SOX9	OTVDJFGN	moderate	Altered Expression	[141]
SSR1	OTQ6GDL2	moderate	Biomarker	[142]
SSR2	OTQJSL7M	moderate	Biomarker	[142]
ADGRB1	OTJSEXRC	Strong	Altered Expression	[143]
AFM	OTPOR8IO	Strong	Biomarker	[144]
AKAP12	OTCVRDDX	Strong	Biomarker	[145]
ALX4	OTNS9A29	Strong	Biomarker	[146]
AQP6	OTXS6UYY	Strong	Biomarker	[147]
ARHGAP24	OTCQCEZS	Strong	Biomarker	[148]
ARHGAP36	OTIM4TYI	Strong	Biomarker	[149]
ARL13B	OT9PYPV1	Strong	Biomarker	[150]
ASCL1	OTI4X44G	Strong	Altered Expression	[151]
ASPG	OT5E2EKR	Strong	Biomarker	[152]
ASPM	OTKXQMNA	Strong	Altered Expression	[153]
ATOH1	OTBZYG2R	Strong	Biomarker	[154]
AXIN1	OTRGZGZ5	Strong	Genetic Variation	[155]
BARHL1	OTIUTWBD	Strong	Altered Expression	[156]
BCOR	OTG013AX	Strong	Genetic Variation	[157]
BOC	OTXBCY9W	Strong	Altered Expression	[158]
BTG2	OTZF6K1H	Strong	Biomarker	[159]
BTG3	OT9ANHVT	Strong	Biomarker	[160]
CALB1	OTM7IXDG	Strong	Biomarker	[161]
CAMK1	OTRN55RE	Strong	Biomarker	[162]
CCDC6	OTXRQDYG	Strong	Genetic Variation	[163]
CD1D	OT3ROU4J	Strong	Altered Expression	[164]
CDCA7	OT12HDZY	Strong	Altered Expression	[165]
CDCA7L	OT1FFWKC	Strong	Biomarker	[166]
CDK16	OTUBXIIT	Strong	Biomarker	[145]
CDKN2D	OT2TTZPZ	Strong	Altered Expression	[167]
CIC	OTFXCHNZ	Strong	Genetic Variation	[168]
CILK1	OTWOYEYP	Strong	Biomarker	[73]
CIZ1	OT3UKHPI	Strong	Biomarker	[169]
CLDN11	OTNN6UTL	Strong	Biomarker	[170]
COL9A1	OTWBR27Y	Strong	Biomarker	[106]
COL9A2	OT1ZBDBV	Strong	Biomarker	[106]
COL9A3	OTCUJOEK	Strong	Biomarker	[106]
COMP	OTS2FPMI	Strong	Biomarker	[106]
CRABP2	OTY01V9G	Strong	Biomarker	[171]
CREBZF	OTO3TOEU	Strong	Biomarker	[172]
CTNNBIP1	OTX9SBJG	Strong	Biomarker	[173]
CUX1	OTU1LCNJ	Strong	Altered Expression	[174]
DAB2IP	OTF456VC	Strong	Biomarker	[175]
DCX	OTISR7K3	Strong	Altered Expression	[176]
DDX31	OTNWY581	Strong	Biomarker	[81]
DDX3X	OTDO4TRX	Strong	Genetic Variation	[177]
DDX42	OT93XO40	Strong	Biomarker	[178]
DIS3L	OTYWZ4EM	Strong	Biomarker	[179]
DLEC1	OTMKKBUW	Strong	Altered Expression	[180]
DMBT1	OTVNU9D9	Strong	Genetic Variation	[181]
DNAJC15	OTNDUKAA	Strong	Posttranslational Modification	[182]
DNER	OT2GH2E5	Strong	Biomarker	[24]
DVL2	OTMNYNCM	Strong	Altered Expression	[183]
DYNLL1	OTR69LHT	Strong	Altered Expression	[180]
EBF3	OTB0IWLW	Strong	Biomarker	[184]
EEF1D	OTM5ZD8Y	Strong	Biomarker	[185]
EFNA3	OTJGOUMZ	Strong	Altered Expression	[186]
EFNA5	OTOH4DRR	Strong	Biomarker	[41]
EFNB1	OT7JJW8P	Strong	Altered Expression	[186]
EFS	OT06O7XL	Strong	Genetic Variation	[187]
EIF4A2	OT08H03R	Strong	Biomarker	[188]
EIF4E3	OTTWVS2R	Strong	Biomarker	[189]
EIF4G1	OT2CF1E6	Strong	Biomarker	[188]
EN2	OT7EZCM2	Strong	Altered Expression	[190]
EYA1	OTHU807A	Strong	Biomarker	[191]
FGF6	OTRJ679P	Strong	Altered Expression	[192]
FOXG1	OTAW57J4	Strong	Biomarker	[193]
FOXS1	OTPM9TZ5	Strong	Altered Expression	[194]
FRZB	OTTO3DPY	Strong	Altered Expression	[183]
FSTL5	OT18C29S	Strong	Biomarker	[195]
FZD1	OTZATHVS	Strong	Biomarker	[153]
FZD2	OT952ML1	Strong	Altered Expression	[153]
FZR1	OT0WGWZS	Strong	Altered Expression	[29]
GAB1	OTQKE6V4	Strong	Altered Expression	[196]
GCN1	OTBFVD7Z	Strong	Altered Expression	[197]
GDI2	OTGLY3I7	Strong	Biomarker	[198]
GFI1	OT9HB9H8	Strong	Biomarker	[65]
GFI1B	OTRDW8YO	Strong	Biomarker	[199]
GNL3	OTILGYO4	Strong	Altered Expression	[200]
GPR161	OT80FYA3	Strong	Genetic Variation	[201]
GPR37L1	OTOV08EV	Strong	Biomarker	[202]
GPR68	OT1NXSMN	Strong	Altered Expression	[117]
GRHL3	OT1V4ZEH	Strong	Biomarker	[203]
GRK6	OT4LZTP9	Strong	Altered Expression	[204]
GYS2	OTCKIUYR	Strong	Genetic Variation	[205]
H3-3B	OT9XHQ3C	Strong	Genetic Variation	[206]
H3C1	OTGBGOZW	Strong	Genetic Variation	[207]
HELLS	OTVVV668	Strong	Biomarker	[120]
HES1	OT8P19W2	Strong	Biomarker	[208]
HEY2	OTU4J3ZI	Strong	Biomarker	[209]
HIC1	OTI9TWY4	Strong	Biomarker	[210]
HOXB4	OTH1HRW5	Strong	Biomarker	[211]
HUWE1	OTFH6BJS	Strong	Biomarker	[212]
INSM1	OTG8RV8E	Strong	Biomarker	[213]
IRF2	OTAZRUW3	Strong	Altered Expression	[214]
ITGA9	OTHN1IKA	Strong	Altered Expression	[215]
KAT8	OT5LPQTR	Strong	Altered Expression	[216]
KBTBD4	OTXBRQFR	Strong	Genetic Variation	[217]
KCTD15	OTM6L4A0	Strong	Biomarker	[218]
KCTD21	OTQT85SN	Strong	Altered Expression	[218]
KCTD6	OTC22GE4	Strong	Altered Expression	[57]
KHDRBS3	OTUG02U7	Strong	Biomarker	[219]
KIF14	OTXHT4JM	Strong	Altered Expression	[220]
KIF1B	OTI1XQTO	Strong	Genetic Variation	[221]
KIF22	OTY6X6BL	Strong	Biomarker	[147]
KIF3A	OTMUBSSK	Strong	Biomarker	[222]
KMT2B	OTMMAZQX	Strong	Altered Expression	[223]
KMT2C	OTC59BCO	Strong	Genetic Variation	[224]
KMT2D	OTTVHCLY	Strong	Biomarker	[223]
L1TD1	OTB2W20Y	Strong	Altered Expression	[225]
LDHB	OT9B1CT3	Strong	Biomarker	[226]
LHX1	OT6WI2XS	Strong	Altered Expression	[227]
LRPPRC	OTXSK5LP	Strong	Biomarker	[228]
LYAR	OTQNA67C	Strong	Biomarker	[229]
MAP2	OT6UYT3X	Strong	Biomarker	[78]
MCM10	OTV0O3JN	Strong	Altered Expression	[230]
MCM2	OTGGORIQ	Strong	Altered Expression	[76]
MCM3	OTOOHQPM	Strong	Altered Expression	[76]
MCM4	OT19PNNG	Strong	Altered Expression	[231]
MED27	OT40PZ9R	Strong	Biomarker	[232]
MEF2A	OTV2SF6E	Strong	Altered Expression	[71]
MEIS1	OTH9DKAD	Strong	Altered Expression	[233]
MMUT	OTBBBV70	Strong	Biomarker	[230]
MNT	OTPC4ANL	Strong	Biomarker	[234]
MPEG1	OT7DAO0F	Strong	Biomarker	[60]
MSH6	OT46FP09	Strong	Genetic Variation	[235]
MTSS1	OT5DTDO2	Strong	Altered Expression	[236]
MXD1	OTS5CTHX	Strong	Altered Expression	[197]
MYCL	OT1MFQ5U	Strong	Biomarker	[237]
MYO18B	OTGYY4NK	Strong	Biomarker	[238]
NBN	OT73B5MD	Strong	Biomarker	[239]
NEURL1	OT2C4P70	Strong	Biomarker	[240]
NEUROD1	OTZQ7QJ2	Strong	Biomarker	[241]
NEUROD2	OTJMMX9K	Strong	Altered Expression	[242]
NEUROG1	OTMJZP9G	Strong	Biomarker	[243]
NEUROG2	OTAEMIGT	Strong	Altered Expression	[151]
NHLH1	OTXN5B9R	Strong	Biomarker	[244]
NNAT	OTNRLO7G	Strong	Biomarker	[245]
NRL	OT65MFKQ	Strong	Biomarker	[246]
NUDT6	OTCS3NYZ	Strong	Altered Expression	[192]
OTX2	OTTV05B1	Strong	Altered Expression	[137]
OVCA2	OT5LSKCS	Strong	Biomarker	[247]
PACC1	OTKBS8CC	Strong	Biomarker	[248]
PAX3	OTN5PJZV	Strong	Altered Expression	[249]
PCDH10	OT2GIT0E	Strong	Biomarker	[250]
PCGF2	OTIY1J5L	Strong	Altered Expression	[251]
PDIK1L	OTISF4KG	Strong	Biomarker	[252]
PHF5A	OTS94JFM	Strong	Biomarker	[253]
PHOX2B	OT3SFR2O	Strong	Biomarker	[254]
PIAS3	OT3TWH9R	Strong	Altered Expression	[255]
PLEC	OTU4XDEG	Strong	Biomarker	[256]
POLD3	OTEQEFQ2	Strong	Biomarker	[257]
POMGNT1	OTBNOUZC	Strong	Biomarker	[258]
POU4F1	OTMHYGWQ	Strong	Altered Expression	[259]
PPP1R15A	OTYG179K	Strong	Genetic Variation	[260]
PRDX3	OTLB2WEU	Strong	Biomarker	[261]
PRUNE1	OTQ3UHWQ	Strong	Altered Expression	[262]
PSMB1	OTYRFBAH	Strong	Genetic Variation	[100]
PTPA	OTRGFOI7	Strong	Altered Expression	[263]
PTPRA	OTZA82J1	Strong	Altered Expression	[264]
RALGDS	OTG36NI7	Strong	Genetic Variation	[265]
RASGRP3	OTEMEV3P	Strong	Biomarker	[67]
RASSF1	OTEZIPB7	Strong	Biomarker	[266]
RBP2	OTR8QG5V	Strong	Posttranslational Modification	[232]
RIOX1	OTN41QXP	Strong	Biomarker	[234]
RIOX2	OT2YFPI2	Strong	Biomarker	[234]
RITA1	OTUH8IPS	Strong	Biomarker	[267]
RNF8	OTRR43PZ	Strong	Biomarker	[170]
RPH3AL	OT9VFJEL	Strong	Biomarker	[268]
RPL30	OTLQVY1Z	Strong	Biomarker	[185]
RPS20	OTI8052R	Strong	Genetic Variation	[185]
RPS27	OTFXKY7P	Strong	Biomarker	[60]
S100A10	OTI71243	Strong	Biomarker	[104]
S100A2	OTTGHJ1H	Strong	Posttranslational Modification	[104]
SAGE1	OT4H6FFA	Strong	Biomarker	[269]
SCG5	OTXSJMT1	Strong	Biomarker	[270]
SF3B2	OTNW2U4Y	Strong	Genetic Variation	[32]
SKA3	OTLHEVJD	Strong	Biomarker	[36]
SNED1	OTBQVXY5	Strong	Biomarker	[271]
SOCS6	OT2O5ZBK	Strong	Altered Expression	[272]
SON	OT9VWV18	Strong	Biomarker	[273]
SOX11	OT4LG7LA	Strong	Altered Expression	[21]
SOX4	OTSS40SS	Strong	Altered Expression	[21]
SPINT2	OTQV7BKQ	Strong	Biomarker	[274]
SPOPL	OTS42VUL	Strong	Biomarker	[275]
STRADA	OTG1Z6TY	Strong	Altered Expression	[276]
SUN2	OT2IQJUC	Strong	Biomarker	[277]
SYP	OTFJKMO4	Strong	Biomarker	[278]
TAS2R38	OTX5MM36	Strong	Genetic Variation	[163]
TEAD4	OTJS0T2B	Strong	Altered Expression	[279]
TESC	OTI8C76M	Strong	Genetic Variation	[280]
TGIF2	OTMKKE3W	Strong	Altered Expression	[146]
TMEM200A	OTVJZIOR	Strong	Altered Expression	[281]
TNPO1	OT7W2CM8	Strong	Biomarker	[282]
TNR	OTVJGAFN	Strong	Altered Expression	[283]
TREH	OTJE0NOY	Strong	Biomarker	[284]
TRIM32	OTJOV0PG	Strong	Biomarker	[285]
TSC22D1	OTN4GFWD	Strong	Biomarker	[286]
CCM2	OT2I5DOW	Definitive	Biomarker	[287]
CDK2AP2	OTR99SJ8	Definitive	Biomarker	[288]
FLI1	OT0EV3LX	Definitive	Biomarker	[121]
KDM4B	OT5P1UPY	Definitive	Biomarker	[121]
L3MBTL2	OTKX1XIX	Definitive	Biomarker	[121]
LAMTOR2	OTHEDISB	Definitive	Biomarker	[288]
LIN28B	OTVWP0FN	Definitive	Altered Expression	[289]
PID1	OT5YJ7FI	Definitive	Biomarker	[290]
RPP14	OT4OYFSK	Definitive	Biomarker	[288]
SCML2	OT8EB87R	Definitive	Biomarker	[121]
SF3B6	OTPRKS6S	Definitive	Biomarker	[288]
SMYD4	OTT349CJ	Definitive	Biomarker	[121]
SNCB	OTELSEK6	Definitive	Biomarker	[291]
SUFU	OT0IRYG1	Definitive	Autosomal dominant	[292]

References

• [1] Development of Inhibitors of the Programmed Cell Death-1/Programmed Cell Death-Ligand 1 Signaling Pathway.J Med Chem. 2019 Feb 28;62(4):1715-1730.
• [2] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [3] ClinicalTrials.gov (NCT03638167) EGFR806-specific CAR T Cell Locoregional Immunotherapy for EGFR-positive Recurrent or Refractory Pediatric CNS Tumors
• [4] ClinicalTrials.gov (NCT03500991) HER2-specific CAR T Cell Locoregional Immunotherapy for HER2-positive Recurrent/Refractory Pediatric CNS Tumors
• [5] ClinicalTrials.gov (NCT03299309) PEP-CMV in Recurrent MEdulloblastoma/Malignant Glioma (PRiME). U.S. National Institutes of Health.
• [6] BET bromodomain protein inhibition is a therapeutic option for medulloblastoma. Oncotarget. 2013 Nov;4(11):2080-95.
• [7] Nilotinib, an approved leukemia drug, inhibits smoothened signaling in Hedgehog-dependent medulloblastoma.PLoS One. 2019 Sep 20;14(9):e0214901. doi: 10.1371/journal.pone.0214901. eCollection 2019.
• [8] Increased cytomegalovirus replication by 5-Azacytidine and viral-induced cytoplasmic expression of DNMT? in medulloblastoma and endothelial cells.Int J Oncol. 2018 Apr;52(4):1317-1327. doi: 10.3892/ijo.2018.4286. Epub 2018 Feb 26.
• [9] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [10] Estrogen and soy isoflavonoids decrease sensitivity of medulloblastoma and central nervous system primitive neuroectodermal tumor cells to chemotherapeutic cytotoxicity.BMC Pharmacol Toxicol. 2017 Sep 6;18(1):63. doi: 10.1186/s40360-017-0160-7.
• [11] Reduced hydroxymethylation characterizes medulloblastoma while TET and IDH genes are differentially expressed within molecular subgroups.J Neurooncol. 2018 Aug;139(1):33-42. doi: 10.1007/s11060-018-2845-1. Epub 2018 Mar 26.
• [12] Identification of the zinc finger 216 (ZNF216) in human carcinoma cells: a potential regulator of EGFR activity.Oncotarget. 2016 Nov 15;7(46):74947-74965. doi: 10.18632/oncotarget.12509.
• [13] Role of the aspartyl-asparaginyl-beta-hydroxylase gene in neuroblastoma cell motility.Lab Invest. 2002 Jul;82(7):881-91. doi: 10.1097/01.lab.0000020406.91689.7f.
• [14] The miR-17~92 cluster collaborates with the Sonic Hedgehog pathway in medulloblastoma.Proc Natl Acad Sci U S A. 2009 Feb 24;106(8):2812-7. doi: 10.1073/pnas.0809579106. Epub 2009 Feb 5.
• [15] Real-time quantitative polymerase chain reaction (qPCR) analysis with fluorescence resonance energy transfer (FRET) probes reveals differential expression of the four ERBB4 juxtamembrane region variants between medulloblastoma and pilocytic astrocytoma.Neuropathol Appl Neurobiol. 2009 Aug;35(4):353-366. doi: 10.1111/j.1365-2990.2008.01001.x. Epub 2008 Nov 12.
• [16] A novel small molecular STAT3 inhibitor, LY5, inhibits cell viability, cell migration, and angiogenesis in medulloblastoma cells.J Biol Chem. 2015 Feb 6;290(6):3418-29. doi: 10.1074/jbc.M114.616748. Epub 2014 Oct 13.
• [17] Mismatch repair deficiency: a temozolomide resistance factor in medulloblastoma cell lines that is uncommon in primary medulloblastoma tumours.Br J Cancer. 2012 Oct 9;107(8):1399-408. doi: 10.1038/bjc.2012.403. Epub 2012 Sep 13.
• [18] Cooperation between c-Met and focal adhesion kinase family members in medulloblastoma and implications for therapy.Mol Cancer Ther. 2012 Feb;11(2):288-97. doi: 10.1158/1535-7163.MCT-11-0490. Epub 2011 Dec 21.
• [19] Prognostic and clinical implication of a disintegrin and metalloprotease 8 expression in pediatric medulloblastoma.J Neurol Sci. 2012 Dec 15;323(1-2):46-51. doi: 10.1016/j.jns.2012.07.040. Epub 2012 Sep 7.
• [20] Immunohistochemical detection of ALK protein identifies APC mutated medulloblastoma and differentiates the WNT-activated medulloblastoma from other types of posterior fossa childhood tumors.Brain Tumor Pathol. 2019 Jan;36(1):1-6. doi: 10.1007/s10014-018-0331-2. Epub 2018 Dec 6.
• [21] Differential expression and prognostic significance of SOX genes in pediatric medulloblastoma and ependymoma identified by microarray analysis.Neuro Oncol. 2008 Oct;10(5):648-60. doi: 10.1215/15228517-2008-032. Epub 2008 Jun 24.
• [22] BMI1 is a therapeutic target in recurrent medulloblastoma.Oncogene. 2019 Mar;38(10):1702-1716. doi: 10.1038/s41388-018-0549-9. Epub 2018 Oct 22.
• [23] Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.J Med Genet. 2018 Jun;55(6):372-377. doi: 10.1136/jmedgenet-2017-105188. Epub 2018 Apr 16.
• [24] Synergistic activity of BET inhibitor MK-8628 and PLK inhibitor Volasertib in preclinical models of medulloblastoma.Cancer Lett. 2019 Mar 31;445:24-33. doi: 10.1016/j.canlet.2018.12.012. Epub 2019 Jan 4.
• [25] Truncated BRPF1 Cooperates with Smoothened to Promote Adult Shh Medulloblastoma.Cell Rep. 2019 Dec 17;29(12):4036-4052.e10. doi: 10.1016/j.celrep.2019.11.046.
• [26] Tumor necrosis-initiated complement activation stimulates proliferation of medulloblastoma cells.Inflamm Res. 2015 Apr;64(3-4):185-92. doi: 10.1007/s00011-015-0796-y. Epub 2015 Jan 22.
• [27] High impact of miRNA-4521 on FOXM1 expression in medulloblastoma.Cell Death Dis. 2019 Sep 20;10(10):696. doi: 10.1038/s41419-019-1926-1.
• [28] Overexpression of HMGA1 deregulates tumor growth via cdc25A and alters migration/invasion through a cdc25A-independent pathway in medulloblastoma.Acta Neuropathol. 2012 Apr;123(4):553-71. doi: 10.1007/s00401-011-0934-8. Epub 2012 Jan 17.
• [29] Biological characterization of the UW402, UW473, ONS-76 and DAOY pediatric medulloblastoma cell lines.Cytotechnology. 2019 Oct;71(5):893-903. doi: 10.1007/s10616-019-00332-3. Epub 2019 Jul 26.
• [30] Hedgehog signaling drives medulloblastoma growth via CDK6.J Clin Invest. 2018 Jan 2;128(1):120-124. doi: 10.1172/JCI92710. Epub 2017 Nov 20.
• [31] Type I collagen is overexpressed in medulloblastoma as a component of tumor microenvironment.J Neurooncol. 2008 Jan;86(2):133-41. doi: 10.1007/s11060-007-9457-5. Epub 2007 Jul 25.
• [32] Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.Nat Biotechnol. 2016 Feb;34(2):155-63. doi: 10.1038/nbt.3391. Epub 2015 Nov 30.
• [33] A CK1 Activator Penetrates the Brain and Shows Efficacy Against Drug-resistant Metastatic Medulloblastoma.Clin Cancer Res. 2019 Feb 15;25(4):1379-1388. doi: 10.1158/1078-0432.CCR-18-1319. Epub 2018 Nov 28.
• [34] DHFR-mediated effects of methotrexate in medulloblastoma and osteosarcoma cells: the same outcome of treatment with different doses in sensitive cell lines.Oncol Rep. 2015 May;33(5):2169-75. doi: 10.3892/or.2015.3819. Epub 2015 Feb 26.
• [35] Epigenetic Silencing of DKK3 in medulloblastoma.Int J Mol Sci. 2013 Apr 8;14(4):7492-505. doi: 10.3390/ijms14047492.
• [36] Dysregulated circular RNAs in medulloblastoma regulate proliferation and growth of tumor cells via host genes.Cancer Med. 2018 Dec;7(12):6147-6157. doi: 10.1002/cam4.1613. Epub 2018 Nov 6.
• [37] The eEF2 kinase confers resistance to nutrient deprivation by blocking translation elongation.Cell. 2013 May 23;153(5):1064-79. doi: 10.1016/j.cell.2013.04.055.
• [38] Downregulation of EIF5A2 by miR-221-3p inhibits cell proliferation, promotes cell cycle arrest and apoptosis in medulloblastoma cells.Biosci Biotechnol Biochem. 2019 Mar;83(3):400-408. doi: 10.1080/09168451.2018.1553604. Epub 2018 Dec 14.
• [39] HuR, a RNA stability factor, is expressed in malignant brain tumors and binds to adenine- and uridine-rich elements within the 3' untranslated regions of cytokine and angiogenic factor mRNAs.Cancer Res. 2001 Mar 1;61(5):2154-61.
• [40] Differential Expression Patterns of Eph Receptors and Ephrin Ligands in Human Cancers.Biomed Res Int. 2018 Feb 28;2018:7390104. doi: 10.1155/2018/7390104. eCollection 2018.
• [41] Effects of altered ephrin-A5 and EphA4/EphA7 expression on tumor growth in a medulloblastoma mouse model.J Hematol Oncol. 2015 Sep 7;8:105. doi: 10.1186/s13045-015-0202-9.
• [42] Durable regression of Medulloblastoma after regional and intravenous delivery of anti-HER2 chimeric antigen receptor T cells.J Immunother Cancer. 2018 Apr 30;6(1):30. doi: 10.1186/s40425-018-0340-z.
• [43] The role of T-helper 17 (Th17) cells in patients with medulloblastoma.J Int Med Res. 2010 Mar-Apr;38(2):611-9. doi: 10.1177/147323001003800223.
• [44] Accumulation of protoporphyrin IX in medulloblastoma cell lines and sensitivity to subsequent photodynamic treatment.J Photochem Photobiol B. 2018 Dec;189:298-305. doi: 10.1016/j.jphotobiol.2018.11.002. Epub 2018 Nov 7.
• [45] Identification of CD24 as a marker of Patched1 deleted medulloblastoma-initiating neural progenitor cells.PLoS One. 2019 Jan 18;14(1):e0210665. doi: 10.1371/journal.pone.0210665. eCollection 2019.
• [46] 5-GABAA receptors negatively regulate MYC-amplified medulloblastoma growth.Acta Neuropathol. 2014 Apr;127(4):593-603. doi: 10.1007/s00401-013-1205-7. Epub 2013 Nov 7.
• [47] Notch1-induced brain tumor models the sonic hedgehog subgroup of human medulloblastoma.Cancer Res. 2013 Sep 1;73(17):5381-90. doi: 10.1158/0008-5472.CAN-13-0033. Epub 2013 Jul 12.
• [48] Mitogen-activated kinase kinase kinase 1 inhibits hedgehog signaling and medulloblastoma growth through GLI1 phosphorylation.Int J Oncol. 2019 Feb;54(2):505-514. doi: 10.3892/ijo.2018.4638. Epub 2018 Nov 19.
• [49] SUFU: The Jekyll and Hyde of the Cerebellum.Dev Cell. 2019 Jan 28;48(2):131-132. doi: 10.1016/j.devcel.2019.01.013.
• [50] Differential role of progesterone receptor isoforms in the transcriptional regulation of human gonadotropin-releasing hormone I (GnRH I) receptor, GnRH I, and GnRH II.J Clin Endocrinol Metab. 2005 Feb;90(2):1106-13. doi: 10.1210/jc.2004-0318. Epub 2004 Nov 23.
• [51] Inhibition of GPR137 suppresses proliferation of medulloblastoma cells in vitro.Biotechnol Appl Biochem. 2015 Nov-Dec;62(6):868-73. doi: 10.1002/bab.1331. Epub 2015 Sep 2.
• [52] A Grb2-associated docking protein in EGF- and insulin-receptor signalling.Nature. 1996 Feb 8;379(6565):560-4. doi: 10.1038/379560a0.
• [53] Expression of N-methyl-D-aspartate (NMDA) and non-NMDA glutamate receptor genes in neuroblastoma, medulloblastoma, and other cells lines.J Neurosci Res. 1996 Oct 15;46(2):164-78. doi: 10.1002/(SICI)1097-4547(19961015)46:2<164::AID-JNR4>3.0.CO;2-F.
• [54] The WIP1 oncogene promotes progression and invasion of aggressive medulloblastoma variants.Oncogene. 2015 Feb 26;34(9):1126-40. doi: 10.1038/onc.2014.37. Epub 2014 Mar 17.
• [55] Targeting metabotropic glutamate receptors in the treatment of primary brain tumors.Curr Opin Pharmacol. 2018 Feb;38:59-64. doi: 10.1016/j.coph.2018.02.005. Epub 2018 Mar 8.
• [56] BDNF and PDE4, but not the GRPR, regulate viability of human medulloblastoma cells.J Mol Neurosci. 2010 Mar;40(3):303-10. doi: 10.1007/s12031-009-9221-8. Epub 2009 Jul 30.
• [57] Identification and characterization of KCASH2 and KCASH3, 2 novel Cullin3 adaptors suppressing histone deacetylase and Hedgehog activity in medulloblastoma.Neoplasia. 2011 Apr;13(4):374-85. doi: 10.1593/neo.101630.
• [58] HDAC5 and HDAC9 in medulloblastoma: novel markers for risk stratification and role in tumor cell growth.Clin Cancer Res. 2010 Jun 15;16(12):3240-52. doi: 10.1158/1078-0432.CCR-10-0395. Epub 2010 Apr 22.
• [59] CRMP1 Inhibits Proliferation of Medulloblastoma and Is Regulated by HMGA1.PLoS One. 2015 May 26;10(5):e0127910. doi: 10.1371/journal.pone.0127910. eCollection 2015.
• [60] MPS1 kinase as a potential therapeutic target in medulloblastoma.Oncol Rep. 2016 Nov;36(5):2633-2640. doi: 10.3892/or.2016.5085. Epub 2016 Sep 12.
• [61] Nuclear IRS-1 and cancer.J Cell Physiol. 2012 Aug;227(8):2992-3000. doi: 10.1002/jcp.24019.
• [62] Targeting cyclin-dependent kinase 9 sensitizes medulloblastoma cells to chemotherapy.Biochem Biophys Res Commun. 2019 Dec 3;520(2):250-256. doi: 10.1016/j.bbrc.2019.09.118. Epub 2019 Oct 5.
• [63] Medulloblastoma comprises four distinct molecular variants.J Clin Oncol. 2011 Apr 10;29(11):1408-14. doi: 10.1200/JCO.2009.27.4324. Epub 2010 Sep 7.
• [64] Voltage-gated potassium channel EAG2 controls mitotic entry and tumor growth in medulloblastoma via regulating cell volume dynamics.Genes Dev. 2012 Aug 15;26(16):1780-96. doi: 10.1101/gad.193789.112. Epub 2012 Aug 1.
• [65] Lsd1 as a therapeutic target in Gfi1-activated medulloblastoma.Nat Commun. 2019 Jan 18;10(1):332. doi: 10.1038/s41467-018-08269-5.
• [66] Trimethylation of H3K27 during human cerebellar development in relation to medulloblastoma.Oncotarget. 2017 Sep 8;8(45):78978-78988. doi: 10.18632/oncotarget.20741. eCollection 2017 Oct 3.
• [67] Combined functional genomic and chemical screens identify SETD8 as a therapeutic target in MYC-driven medulloblastoma.JCI Insight. 2019 Jan 10;4(1):e122933. doi: 10.1172/jci.insight.122933.
• [68] MicroRNA-206 inhibits the viability and migration of medulloblastoma cells by targeting LIM and SH3 protein 1.Exp Ther Med. 2017 Oct;14(4):3894-3900. doi: 10.3892/etm.2017.5016. Epub 2017 Aug 24.
• [69] The Phosphoinositide 3-Kinase p110 Isoform Regulates Leukemia Inhibitory Factor Receptor Expression via c-Myc and miR-125b to Promote Cell Proliferation in Medulloblastoma.PLoS One. 2015 Apr 27;10(4):e0123958. doi: 10.1371/journal.pone.0123958. eCollection 2015.
• [70] Expression profiling of medulloblastoma: PDGFRA and the RAS/MAPK pathway as therapeutic targets for metastatic disease.Nat Genet. 2001 Oct;29(2):143-52. doi: 10.1038/ng731.
• [71] A novel role for extracellular signal-regulated kinase 5 and myocyte enhancer factor 2 in medulloblastoma cell death.Cancer Res. 2005 Jul 1;65(13):5683-9. doi: 10.1158/0008-5472.CAN-04-2283.
• [72] MEKK2 and MEKK3 suppress Hedgehog pathway-dependent medulloblastoma by inhibiting GLI1 function.Oncogene. 2018 Jul;37(28):3864-3878. doi: 10.1038/s41388-018-0249-5. Epub 2018 Apr 17.
• [73] Pharmacological Inhibition of the Protein Kinase MRK/ZAK Radiosensitizes Medulloblastoma.Mol Cancer Ther. 2016 Aug;15(8):1799-808. doi: 10.1158/1535-7163.MCT-15-0849. Epub 2016 May 20.
• [74] MicroRNA-21 suppression impedes medulloblastoma cell migration.Eur J Cancer. 2011 Nov;47(16):2479-90. doi: 10.1016/j.ejca.2011.06.041. Epub 2011 Jul 19.
• [75] MAP4K4 controlled integrin 1 activation and c-Met endocytosis are associated with invasive behavior of medulloblastoma cells.Oncotarget. 2018 May 1;9(33):23220-23236. doi: 10.18632/oncotarget.25294. eCollection 2018 May 1.
• [76] Minichromosome maintenance proteins 2, 3 and 7 in medulloblastoma: overexpression and involvement in regulation of cell migration and invasion.Oncogene. 2010 Oct 7;29(40):5475-89. doi: 10.1038/onc.2010.287. Epub 2010 Jul 26.
• [77] MELK and EZH2 Cooperate to Regulate Medulloblastoma Cancer Stem-like Cell Proliferation and Differentiation.Mol Cancer Res. 2017 Sep;15(9):1275-1286. doi: 10.1158/1541-7786.MCR-17-0105. Epub 2017 May 23.
• [78] SPARC stimulates neuronal differentiation of medulloblastoma cells via the Notch1/STAT3 pathway.Cancer Res. 2011 Jul 15;71(14):4908-19. doi: 10.1158/0008-5472.CAN-10-3395. Epub 2011 May 25.
• [79] Regulatory effects of a Mnk2-eIF4E feedback loop during mTORC1 targeting of human medulloblastoma cells.Oncotarget. 2014 Sep 30;5(18):8442-51. doi: 10.18632/oncotarget.2319.
• [80] Expression of matrix metalloproteinases and their tissue inhibitors in human brain tumors.Am J Pathol. 1998 Aug;153(2):429-37. doi: 10.1016/S0002-9440(10)65586-1.
• [81] RNA binding protein-mediated post-transcriptional gene regulation in medulloblastoma.Mol Cells. 2014 May;37(5):357-64. doi: 10.14348/molcells.2014.0008. Epub 2014 Mar 6.
• [82] Leukotriene Synthesis Is Critical for Medulloblastoma Progression.Clin Cancer Res. 2019 Nov 1;25(21):6475-6486. doi: 10.1158/1078-0432.CCR-18-3549. Epub 2019 Jul 12.
• [83] CD271(+) Cells Are Diagnostic and Prognostic and Exhibit Elevated MAPK Activity in SHH Medulloblastoma.Cancer Res. 2018 Aug 15;78(16):4745-4759. doi: 10.1158/0008-5472.CAN-18-0027. Epub 2018 Jun 21.
• [84] An oncolytic measles virus-sensitive Group 3 medulloblastoma model in immune-competent mice.Neuro Oncol. 2018 Nov 12;20(12):1606-1615. doi: 10.1093/neuonc/noy089.
• [85] Low Expression of miR-466f-3p Sustains Epithelial to Mesenchymal Transition in Sonic Hedgehog Medulloblastoma Stem Cells Through Vegfa-Nrp2 Signaling Pathway.Front Pharmacol. 2018 Nov 12;9:1281. doi: 10.3389/fphar.2018.01281. eCollection 2018.
• [86] Growth-inhibitory effect of neurotrophin-3-secreting adipose tissue-derived mesenchymal stem cells on the D283-MED human medulloblastoma cell line.J Neurooncol. 2012 Jan;106(1):89-98. doi: 10.1007/s11060-011-0656-8. Epub 2011 Jul 1.
• [87] Ectopic expression of Par-4 leads to induction of apoptosis in CNS tumor cell lines.Int J Oncol. 2005 Jan;26(1):159-67.
• [88] Overexpression of PAX5 in oral carcinogenesis.Oncol Rep. 2006 Nov;16(5):1003-8.
• [89] Platelet-derived growth factor-B and -C and active alpha-receptors in medulloblastoma cells.Biochem Biophys Res Commun. 2002 Aug 23;296(3):604-11. doi: 10.1016/s0006-291x(02)00917-8.
• [90] Platelet-derived growth factor D: tumorigenicity in mice and dysregulated expression in human cancer.Cancer Res. 2002 May 1;62(9):2468-73.
• [91] A microRNA-1280/JAG2 network comprises a novel biological target in high-risk medulloblastoma. Oncotarget. 2015 Feb 20;6(5):2709-24.
• [92] Pharmacological mTOR targeting enhances the antineoplastic effects of selective PI3K inhibition in medulloblastoma.Sci Rep. 2019 Sep 6;9(1):12822. doi: 10.1038/s41598-019-49299-3.
• [93] The Multiple Roles of Peptidyl Prolyl Isomerases in Brain Cancer.Biomolecules. 2018 Oct 11;8(4):112. doi: 10.3390/biom8040112.
• [94] Inhibition of polo-like kinase 4 (PLK4): a new therapeutic option for rhabdoid tumors and pediatric medulloblastoma.Oncotarget. 2017 Nov 24;8(67):111190-111212. doi: 10.18632/oncotarget.22704. eCollection 2017 Dec 19.
• [95] Regulation of PNMT gene promoter constructs transfected into the TE 671 human medulloblastoma cell line.Neurosci Lett. 1995 Dec 1;201(1):77-80. doi: 10.1016/0304-3940(95)12142-q.
• [96] DNA polymerase deficiency in the p53 null cerebellum leads to medulloblastoma formation.Biochem Biophys Res Commun. 2018 Oct 28;505(2):548-553. doi: 10.1016/j.bbrc.2018.09.166. Epub 2018 Sep 29.
• [97] WIP1 modulates responsiveness to Sonic Hedgehog signaling in neuronal precursor cells and medulloblastoma.Oncogene. 2016 Oct 20;35(42):5552-5564. doi: 10.1038/onc.2016.96. Epub 2016 Apr 18.
• [98] Adoptive Immunotherapy Using PRAME-Specific T Cells in Medulloblastoma.Cancer Res. 2018 Jun 15;78(12):3337-3349. doi: 10.1158/0008-5472.CAN-17-3140. Epub 2018 Apr 3.
• [99] Prostate stem cell antigen is expressed in normal and malignant human brain tissues.Oncol Lett. 2018 Mar;15(3):3081-3084. doi: 10.3892/ol.2017.7632. Epub 2017 Dec 18.
• [100] The ubiquitin-proteasome system and chromosome 17 in cerebellar granule cells and medulloblastoma subgroups.Cell Mol Life Sci. 2017 Feb;74(3):449-467. doi: 10.1007/s00018-016-2354-3. Epub 2016 Sep 3.
• [101] CBF1 is clinically prognostic and serves as a target to block cellular invasion and chemoresistance of EMT-like glioblastoma cells.Br J Cancer. 2017 Jun 27;117(1):102-112. doi: 10.1038/bjc.2017.157. Epub 2017 Jun 1.
• [102] MicroRNA 218 acts as a tumor suppressor by targeting multiple cancer phenotype-associated genes in medulloblastoma. J Biol Chem. 2013 Jan 18;288(3):1918-28.
• [103] Rethinking medulloblastoma from a targeted therapeutics perspective.J Neurooncol. 2018 Sep;139(3):713-720. doi: 10.1007/s11060-018-2917-2. Epub 2018 Jun 5.
• [104] Epigenetic deregulation of multiple S100 gene family members by differential hypomethylation and hypermethylation events in medulloblastoma. Br J Cancer. 2007 Jul 16;97(2):267-74. doi: 10.1038/sj.bjc.6603852. Epub 2007 Jun 19.
• [105] HDL nanoparticles targeting sonic hedgehog subtype medulloblastoma.Sci Rep. 2018 Jan 19;8(1):1211. doi: 10.1038/s41598-017-18100-8.
• [106] miR-219 inhibits the proliferation, migration and invasion of medulloblastoma cells by targeting CD164.Int J Mol Med. 2014 Jul;34(1):237-43. doi: 10.3892/ijmm.2014.1749. Epub 2014 Apr 22.
• [107] miR-218 is downregulated and directly targets SH3GL1 in childhood medulloblastoma.Mol Med Rep. 2013 Oct;8(4):1111-7. doi: 10.3892/mmr.2013.1639. Epub 2013 Aug 16.
• [108] Molecular and in vivo characterization of cancer-propagating cells derived from MYCN-dependent medulloblastoma.PLoS One. 2015 Mar 18;10(3):e0119834. doi: 10.1371/journal.pone.0119834. eCollection 2015.
• [109] Role of Na+/Ca2+ Exchangers in Therapy Resistance of Medulloblastoma Cells.Cell Physiol Biochem. 2017;42(3):1240-1251. doi: 10.1159/000478953. Epub 2017 Jul 3.
• [110] Occurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome.Clin Genet. 2020 Apr;97(4):670-671. doi: 10.1111/cge.13681. Epub 2019 Dec 11.
• [111] The FlpTRAP system for purification of specific, endogenous chromatin regions.Anal Biochem. 2019 Dec 15;587:113418. doi: 10.1016/j.ab.2019.113418. Epub 2019 Sep 11.
• [112] Differential expression of somatostatin receptors in medulloblastoma.J Neurooncol. 2001 Jan;51(2):93-103. doi: 10.1023/a:1010624702443.
• [113] Targeting Upstream Kinases of STAT3 in Human Medulloblastoma Cells.Curr Cancer Drug Targets. 2019;19(7):571-582. doi: 10.2174/1568009618666181016165604.
• [114] XAV939-mediated ARTD activity inhibition in human MB cell lines.PLoS One. 2015 Apr 2;10(4):e0124149. doi: 10.1371/journal.pone.0124149. eCollection 2015.
• [115] Immunohistochemical investigation of topoII, H3K27me3 and JMJD3 expressions in medulloblastoma.Pathol Res Pract. 2017 Aug;213(8):975-981. doi: 10.1016/j.prp.2017.04.012. Epub 2017 Apr 20.
• [116] TRIM59 induces epithelial-to-mesenchymal transition and promotes migration and invasion by PI3K/AKT signaling pathway in medulloblastoma.Oncol Lett. 2018 Jun;15(6):8253-8260. doi: 10.3892/ol.2018.8432. Epub 2018 Apr 4.
• [117] Functional expression of calcium-permeable canonical transient receptor potential 4-containing channels promotes migration of medulloblastoma cells.J Physiol. 2017 Aug 15;595(16):5525-5544. doi: 10.1113/JP274659. Epub 2017 Jul 20.
• [118] Regulation of USP37 Expression by REST-Associated G9a-Dependent Histone Methylation.Mol Cancer Res. 2017 Aug;15(8):1073-1084. doi: 10.1158/1541-7786.MCR-16-0424. Epub 2017 May 8.
• [119] Development of Potent Pyrazolopyrimidinone-Based WEE1 Inhibitors with Limited Single-Agent Cytotoxicity for Cancer Therapy.ChemMedChem. 2018 Aug 20;13(16):1681-1694. doi: 10.1002/cmdc.201800188. Epub 2018 Jul 11.
• [120] Upregulation of the chromatin remodeler HELLS is mediated by YAP1 in Sonic Hedgehog Medulloblastoma.Sci Rep. 2019 Sep 20;9(1):13611. doi: 10.1038/s41598-019-50088-1.
• [121] Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma.Nat Genet. 2009 Apr;41(4):465-72. doi: 10.1038/ng.336. Epub 2009 Mar 8.
• [122] Epigenetic repression of the dopamine receptor D4 in pediatric tumors of the central nervous system.J Neurooncol. 2014 Jan;116(2):237-49. doi: 10.1007/s11060-013-1313-1. Epub 2013 Nov 22.
• [123] Phase I trial of hedgehog pathway inhibitor vismodegib (GDC-0449) in patients with refractory, locally advanced or metastatic solid tumors.Clin Cancer Res. 2011 Apr 15;17(8):2502-11. doi: 10.1158/1078-0432.CCR-10-2745. Epub 2011 Feb 7.
• [124] Expression of hydroxyindole-O-methyltransferase enzyme in the human central nervous system and in pineal parenchymal cell tumors.J Neuropathol Exp Neurol. 2010 May;69(5):498-510. doi: 10.1097/NEN.0b013e3181db7d3c.
• [125] miR-200a-3p promotes the proliferation of human esophageal cancer cells by post-transcriptionally regulating cytoplasmic collapsin response mediator protein-1.Int J Mol Med. 2016 Nov;38(5):1558-1564. doi: 10.3892/ijmm.2016.2758. Epub 2016 Sep 28.
• [126] Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomas.Neuro Oncol. 2020 Jan 11;22(1):128-138. doi: 10.1093/neuonc/noz154.
• [127] CRX/OTX3: a useful marker in the differential diagnosis of tumors of the pineal region and indicator of photoreceptor differentiation in medulloblastomas and atypical teratoid rhabdoid tumors.Appl Immunohistochem Mol Morphol. 2013 May;21(3):248-53. doi: 10.1097/PAI.0b013e3182649dad.
• [128] A compartmentalized phosphoinositide signaling axis at cilia is regulated by INPP5E to maintain cilia and promote Sonic Hedgehog medulloblastoma.Oncogene. 2017 Oct 26;36(43):5969-5984. doi: 10.1038/onc.2017.208. Epub 2017 Jun 26.
• [129] Alternative Splicing of MXD3 and Its Regulation of MXD3 Levels in Glioblastoma.Front Mol Biosci. 2019 Feb 19;6:5. doi: 10.3389/fmolb.2019.00005. eCollection 2019.
• [130] Regulatory factor X1-induced down-regulation of transforming growth factor 2 transcription in human neuroblastoma cells.J Biol Chem. 2012 Jun 29;287(27):22730-9. doi: 10.1074/jbc.M111.338590. Epub 2012 May 11.
• [131] MAX and MYC: a heritable breakup.Cancer Res. 2012 Jul 1;72(13):3119-24. doi: 10.1158/0008-5472.CAN-11-3891. Epub 2012 Jun 15.
• [132] The transcription factor ATF5: role in neurodevelopment and neural tumors.J Neurochem. 2009 Jan;108(1):11-22. doi: 10.1111/j.1471-4159.2008.05749.x. Epub 2008 Nov 15.
• [133] Absence of detectable alterations in the putative tumor suppressor gene BTRC in cerebellar medulloblastomas and cutaneous basal cell carcinomas.Acta Neuropathol. 2003 Oct;106(4):287-90. doi: 10.1007/s00401-003-0745-7. Epub 2003 Jul 24.
• [134] Neural stem cell-mediated CE/CPT-11 enzyme/prodrug therapy in transgenic mouse model of intracerebellar medulloblastoma.Gene Ther. 2013 Feb;20(2):143-50. doi: 10.1038/gt.2012.12. Epub 2012 Mar 8.
• [135] Nuclear translocation of Hand-1 acts as a molecular switch to regulate vascular radiosensitivity in medulloblastoma tumors: the protein uPAR is a cytoplasmic sequestration factor for Hand-1.Mol Cancer Ther. 2014 May;13(5):1309-22. doi: 10.1158/1535-7163.MCT-13-0892. Epub 2014 Mar 12.
• [136] Neurotrophin receptors and heparanase: a functional axis in human medulloblastoma invasion.J Exp Clin Cancer Res. 2007 Mar;26(1):5-23.
• [137] OTX1 and OTX2 Genes in Medulloblastoma.World Neurosurg. 2019 Jul;127:e58-e64. doi: 10.1016/j.wneu.2019.02.013. Epub 2019 Feb 21.
• [138] Simultaneous colonic adenocarcinoma and medulloblastoma in a 12-year-old with biallelic deletions in PMS2.J Pediatr. 2013 Aug;163(2):601-3. doi: 10.1016/j.jpeds.2013.03.007. Epub 2013 Apr 10.
• [139] Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32.Hum Mol Genet. 1999 Feb;8(2):291-7. doi: 10.1093/hmg/8.2.291.
• [140] Preponderance of sonic hedgehog pathway activation characterizes adult medulloblastoma.Acta Neuropathol. 2011 Feb;121(2):229-39. doi: 10.1007/s00401-010-0780-0. Epub 2010 Nov 24.
• [141] FBW7 suppression leads to SOX9 stabilization and increased malignancy in medulloblastoma.EMBO J. 2016 Oct 17;35(20):2192-2212. doi: 10.15252/embj.201693889. Epub 2016 Sep 13.
• [142] Differential expression of somatostatin receptors, P44/42 MAPK, and mTOR activation in medulloblastomas and primitive neuroectodermal tumors.Appl Immunohistochem Mol Morphol. 2013 Dec;21(6):532-8. doi: 10.1097/PAI.0b013e3182813724.
• [143] EZH2 targeting reduces medulloblastoma growth through epigenetic reactivation of the BAI1/p53 tumor suppressor pathway.Oncogene. 2020 Jan;39(5):1041-1048. doi: 10.1038/s41388-019-1036-7. Epub 2019 Oct 3.
• [144] The biochemical, nanomechanical and chemometric signatures of brain cancer.Spectrochim Acta A Mol Biomol Spectrosc. 2018 Jan 5;188:8-19. doi: 10.1016/j.saa.2017.06.037. Epub 2017 Jun 30.
• [145] RNA interference screening identifies a novel role for PCTK1/CDK16 in medulloblastoma with c-Myc amplification.Oncotarget. 2015 Jan 1;6(1):116-29. doi: 10.18632/oncotarget.2699.
• [146] Identification of FoxR2 as an oncogene in medulloblastoma.Cancer Res. 2014 Apr 15;74(8):2351-61. doi: 10.1158/0008-5472.CAN-13-1523. Epub 2014 Mar 5.
• [147] Cognitive deficits and psychopathological symptoms among children with medulloblastoma.Eur J Cancer Care (Engl). 2018 Nov;27(6):e12912. doi: 10.1111/ecc.12912. Epub 2018 Sep 11.
• [148] Long Noncoding RNA TP73-AS1 Modulates Medulloblastoma Progression In Vitro And In Vivo By Sponging miR-494-3p And Targeting EIF5A2.Onco Targets Ther. 2019 Nov 18;12:9873-9885. doi: 10.2147/OTT.S228305. eCollection 2019.
• [149] Bimodal antagonism of PKA signalling by ARHGAP36.Nat Commun. 2016 Oct 7;7:12963. doi: 10.1038/ncomms12963.
• [150] Disruption of the ciliary GTPase Arl13b suppresses Sonic hedgehog overactivation and inhibits medulloblastoma formation.Proc Natl Acad Sci U S A. 2018 Feb 13;115(7):1570-1575. doi: 10.1073/pnas.1706977115. Epub 2018 Jan 29.
• [151] Upregulation of SOX2, NOTCH1, and ID1 in supratentorial primitive neuroectodermal tumors: a distinct differentiation pattern from that of medulloblastomas.J Neurosurg Pediatr. 2010 Jun;5(6):608-14. doi: 10.3171/2010.2.PEDS1065.
• [152] Efficacy of Asparaginase Erwinia chrysanthemi With and Without Temozolomide Against Glioma Cells and Intracranial Mouse Medulloblastoma.Anticancer Res. 2018 May;38(5):2627-2634. doi: 10.21873/anticanres.12504.
• [153] Expression profile of frizzled receptors in human medulloblastomas.J Neurooncol. 2012 Jan;106(2):271-80. doi: 10.1007/s11060-011-0682-6. Epub 2011 Aug 18.
• [154] Atoh1 Controls Primary Cilia Formation to Allow for SHH-Triggered Granule Neuron Progenitor Proliferation.Dev Cell. 2019 Jan 28;48(2):184-199.e5. doi: 10.1016/j.devcel.2018.12.017.
• [155] No evidence for mutations or altered expression of the Suppressor of Fused gene (SUFU) in primitive neuroectodermal tumours.Neuropathol Appl Neurobiol. 2004 Oct;30(5):532-9. doi: 10.1111/j.1365-2990.2004.00560.x.
• [156] BARHL1 Is Downregulated in Alzheimer's Disease and May Regulate Cognitive Functions through ESR1 and Multiple Pathways.Genes (Basel). 2017 Sep 28;8(10):245. doi: 10.3390/genes8100245.
• [157] Targeted next-generation sequencing of pediatric neuro-oncology patients improves diagnosis, identifies pathogenic germline mutations, and directs targeted therapy.Neuro Oncol. 2017 May 1;19(5):699-709. doi: 10.1093/neuonc/now254.
• [158] The Shh receptor Boc promotes progression of early medulloblastoma to advanced tumors.Dev Cell. 2014 Oct 13;31(1):34-47. doi: 10.1016/j.devcel.2014.08.010. Epub 2014 Sep 25.
• [159] Tis21-gene therapy inhibits medulloblastoma growth in a murine allograft model.PLoS One. 2018 Mar 14;13(3):e0194206. doi: 10.1371/journal.pone.0194206. eCollection 2018.
• [160] Antitumor Activities and Cellular Changes Induced by TrkB Inhibition in Medulloblastoma.Front Pharmacol. 2019 Jun 26;10:698. doi: 10.3389/fphar.2019.00698. eCollection 2019.
• [161] Retinoic acid regulates the expression of the calcium binding protein, calbindin-D28K.Mol Endocrinol. 1995 Nov;9(11):1510-21. doi: 10.1210/mend.9.11.8584029.
• [162] Calmodulin-kinases regulate basal and estrogen stimulated medulloblastoma migration via Rac1.J Neurooncol. 2011 Aug;104(1):65-82. doi: 10.1007/s11060-010-0472-6. Epub 2010 Nov 24.
• [163] Genetics of brain tumors.Curr Opin Pediatr. 2000 Dec;12(6):543-8. doi: 10.1097/00008480-200012000-00005.
• [164] Therapeutic implications of CD1d expression and tumor-infiltrating macrophages in pediatric medulloblastomas.J Neurooncol. 2014 Nov;120(2):293-301. doi: 10.1007/s11060-014-1572-5. Epub 2014 Aug 13.
• [165] Identification of a novel c-Myc protein interactor, JPO2, with transforming activity in medulloblastoma cells.Cancer Res. 2005 Jul 1;65(13):5607-19. doi: 10.1158/0008-5472.CAN-05-0500.
• [166] Silencing of thrombospondin-1 is critical for myc-induced metastatic phenotypes in medulloblastoma.Cancer Res. 2010 Oct 15;70(20):8199-210. doi: 10.1158/0008-5472.CAN-09-4562. Epub 2010 Sep 28.
• [167] A molecular fingerprint for medulloblastoma.Cancer Res. 2003 Sep 1;63(17):5428-37.
• [168] CIC and FUBP1 mutations in oligodendrogliomas, oligoastrocytomas and astrocytomas.Acta Neuropathol. 2012 Jun;123(6):853-60. doi: 10.1007/s00401-012-0993-5. Epub 2012 May 17.
• [169] Ciz1, Cip1 interacting zinc finger protein 1 binds the consensus DNA sequence ARYSR(0-2)YYAC.J Biomed Sci. 2003 Jul-Aug;10(4):406-17. doi: 10.1007/BF02256432.
• [170] Silencing of E3 Ubiquitin Ligase RNF8 Enhances Ionizing Radiation Sensitivity of Medulloblastoma Cells by Promoting the Deubiquitination of PCNA.Oncol Res. 2018 Oct 17;26(9):1365-1373. doi: 10.3727/096504018X15154085345907. Epub 2018 Jan 10.
• [171] Resveratrol Reverses Retinoic Acid Resistance of Anaplastic Thyroid Cancer Cells via Demethylating CRABP2 Gene.Front Endocrinol (Lausanne). 2019 Oct 29;10:734. doi: 10.3389/fendo.2019.00734. eCollection 2019.
• [172] Zhangfei induces the expression of the nerve growth factor receptor, trkA, in medulloblastoma cells and causes their differentiation or apoptosis.J Neurooncol. 2009 Jan;91(1):7-17. doi: 10.1007/s11060-008-9682-6. Epub 2008 Aug 22.
• [173] Familial medulloblastoma: case report of one family and review of the literature.Neurosurgery. 2002 Jul;51(1):227-33; discussion 233. doi: 10.1097/00006123-200207000-00035.
• [174] The transcription factor Cux1 in cerebellar granule cell development and medulloblastoma pathogenesis.Cerebellum. 2014 Dec;13(6):698-712. doi: 10.1007/s12311-014-0588-x.
• [175] EZH2-regulated DAB2IP is a medulloblastoma tumor suppressor and a positive marker for survival.Clin Cancer Res. 2012 Aug 1;18(15):4048-58. doi: 10.1158/1078-0432.CCR-12-0399. Epub 2012 Jun 13.
• [176] Doublecortin is preferentially expressed in invasive human brain tumors.Acta Neuropathol. 2005 Nov;110(5):472-80. doi: 10.1007/s00401-005-1070-0. Epub 2005 Sep 30.
• [177] Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.Eur J Hum Genet. 2019 Aug;27(8):1254-1259. doi: 10.1038/s41431-019-0392-7. Epub 2019 Apr 1.
• [178] Interferon antagonist function of Japanese encephalitis virus NS4A and its interaction with DEAD-box RNA helicase DDX42.Virus Res. 2008 Oct;137(1):49-55. doi: 10.1016/j.virusres.2008.05.015. Epub 2008 Jul 10.
• [179] Zfx facilitates tumorigenesis caused by activation of the Hedgehog pathway.Cancer Res. 2014 Oct 15;74(20):5914-24. doi: 10.1158/0008-5472.CAN-14-0834. Epub 2014 Aug 27.
• [180] Epigenetic inactivation of DLC-1 in supratentorial primitive neuroectodermal tumor.Hum Pathol. 2005 Jan;36(1):36-43. doi: 10.1016/j.humpath.2004.09.021.
• [181] PTEN and DMBT1 homozygous deletion and expression in medulloblastomas and supratentorial primitive neuroectodermal tumors.Oncol Rep. 2004 Dec;12(6):1341-7.
• [182] Epigenetic inactivation of MCJ (DNAJD1) in malignant paediatric brain tumours.Int J Cancer. 2006 Jan 15;118(2):346-52. doi: 10.1002/ijc.21353.
• [183] The SFRP family of WNT inhibitors function as novel tumor suppressor genes epigenetically silenced in medulloblastoma.Oncogene. 2010 May 20;29(20):3017-24. doi: 10.1038/onc.2010.32. Epub 2010 Mar 8.
• [184] Apples to origins: identifying brain tumor stem cell genes by comparing transcriptomes of normal and cancer stem cells.Cancer Discov. 2012 Jun;2(6):492-4. doi: 10.1158/2159-8290.CD-12-0182.
• [185] Medulloblastoma outcome is adversely associated with overexpression of EEF1D, RPL30, and RPS20 on the long arm of chromosome 8.BMC Cancer. 2006 Sep 12;6:223. doi: 10.1186/1471-2407-6-223.
• [186] EphrinB1 expression is dysregulated and promotes oncogenic signaling in medulloblastoma.J Neurooncol. 2015 Jan;121(1):109-18. doi: 10.1007/s11060-014-1618-8. Epub 2014 Sep 26.
• [187] Childhood medulloblastoma-a single institution's historical perspective on survival and functional morbidity.Childs Nerv Syst. 2019 Dec;35(12):2327-2338. doi: 10.1007/s00381-019-04402-x. Epub 2019 Nov 4.
• [188] Proteomic analysis of Medulloblastoma reveals functional biology with translational potential.Acta Neuropathol Commun. 2018 Jun 7;6(1):48. doi: 10.1186/s40478-018-0548-7.
• [189] MiR-584-5p potentiates vincristine and radiation response by inducing spindle defects and DNA damage in medulloblastoma.Nat Commun. 2018 Oct 31;9(1):4541. doi: 10.1038/s41467-018-06808-8.
• [190] Overexpression of Pax5 is not sufficient for neoplastic transformation of mouse neuroectoderm.Int J Cancer. 2001 Aug 15;93(4):459-67. doi: 10.1002/ijc.1371.
• [191] The Eya1 phosphatase promotes Shh signaling during hindbrain development and oncogenesis.Dev Cell. 2015 Apr 6;33(1):22-35. doi: 10.1016/j.devcel.2015.01.033. Epub 2015 Mar 26.
• [192] Antitumor activity of fibroblast growth factors (FGFs) for medulloblastoma may correlate with FGF receptor expression and tumor variant.Clin Cancer Res. 2002 Jan;8(1):246-57.
• [193] FoxG1 interacts with Bmi1 to regulate self-renewal and tumorigenicity of medulloblastoma stem cells.Stem Cells. 2013 Jul;31(7):1266-77. doi: 10.1002/stem.1401.
• [194] Identification of novel GLI1 target genes and regulatory circuits in human cancer cells.Mol Oncol. 2018 Oct;12(10):1718-1734. doi: 10.1002/1878-0261.12366. Epub 2018 Aug 30.
• [195] FSTL5 is a marker of poor prognosis in non-WNT/non-SHH medulloblastoma.J Clin Oncol. 2011 Oct 10;29(29):3852-61. doi: 10.1200/JCO.2011.36.2798. Epub 2011 Sep 12.
• [196] Medulloblastoma, WNT-activated/SHH-activated: clinical impact of molecular analysis and histogenetic evaluation.Childs Nerv Syst. 2018 May;34(5):809-815. doi: 10.1007/s00381-018-3765-2. Epub 2018 Mar 26.
• [197] JC virus granule cell neuronopathy is associated with VP1 C terminus mutants.J Gen Virol. 2012 Jan;93(Pt 1):175-183. doi: 10.1099/vir.0.037440-0. Epub 2011 Sep 21.
• [198] Genetic drivers of metastatic dissemination in sonic hedgehog medulloblastoma.Acta Neuropathol Commun. 2014 Jul 25;2:85. doi: 10.1186/s40478-014-0085-y.
• [199] Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma.Nature. 2014 Jul 24;511(7510):428-34. doi: 10.1038/nature13379. Epub 2014 Jun 22.
• [200] Differential expression of nucleostemin, a stem cell marker, and its variants in different types of brain tumors.Mol Carcinog. 2010 Sep;49(9):818-25. doi: 10.1002/mc.20658.
• [201] Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma.J Clin Oncol. 2020 Jan 1;38(1):43-50. doi: 10.1200/JCO.19.00577. Epub 2019 Oct 14.
• [202] Genetic ablation of Gpr37l1 delays tumor occurrence in Ptch1(+/-) mouse models of medulloblastoma.Exp Neurol. 2019 Feb;312:33-42. doi: 10.1016/j.expneurol.2018.11.004. Epub 2018 Nov 16.
• [203] Clustering of self-organizing map identifies five distinct medulloblastoma subgroups.Cancer Biomark. 2016;16(3):327-32. doi: 10.3233/CBM-160570.
• [204] Growth factor receptor-Src-mediated suppression of GRK6 dysregulates CXCR4 signaling and promotes medulloblastoma migration.Mol Cancer. 2013 Mar 5;12:18. doi: 10.1186/1476-4598-12-18.
• [205] Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a.Childs Nerv Syst. 2018 Mar;34(3):581-584. doi: 10.1007/s00381-017-3666-9. Epub 2017 Nov 22.
• [206] Telomere elongation via alternative lengthening of telomeres (ALT) and telomerase activation in primary metastatic medulloblastoma of childhood.J Neurooncol. 2019 May;142(3):435-444. doi: 10.1007/s11060-019-03127-w. Epub 2019 Mar 4.
• [207] Study of hTERT and Histone 3 Mutations in Medulloblastoma.Pathobiology. 2017;84(2):108-113. doi: 10.1159/000448922. Epub 2016 Oct 1.
• [208] Epigenetic silencing of miRNA-9 is associated with HES1 oncogenic activity and poor prognosis of medulloblastoma.Br J Cancer. 2014 Feb 4;110(3):636-47. doi: 10.1038/bjc.2013.764. Epub 2013 Dec 17.
• [209] Endothelial Cells Promote Formation of Medulloblastoma Stem-Like Cells via Notch Pathway Activation.J Mol Neurosci. 2017 Oct;63(2):152-158. doi: 10.1007/s12031-017-0965-2. Epub 2017 Aug 30.
• [210] Cooperation between the Hic1 and Ptch1 tumor suppressors in medulloblastoma.Genes Dev. 2008 Mar 15;22(6):770-85. doi: 10.1101/gad.1640908.
• [211] Functional analysis of HOXA10 and HOXB4 in human medulloblastoma cell lines.Int J Oncol. 2017 Dec;51(6):1929-1940. doi: 10.3892/ijo.2017.4151. Epub 2017 Oct 10.
• [212] Shh signaling protects Atoh1 from degradation mediated by the E3 ubiquitin ligase Huwe1 in neural precursors.Dev Cell. 2014 Jun 23;29(6):649-61. doi: 10.1016/j.devcel.2014.05.014.
• [213] INSM1 promoter-driven adenoviral herpes simplex virus thymidine kinase cancer gene therapy for the treatment of primitive neuroectodermal tumors.Hum Gene Ther. 2009 Nov;20(11):1308-18. doi: 10.1089/hum.2008.168.
• [214] Regulation of interferon responses in medulloblastoma cells by interferon regulatory factor-1 and -2.Br J Cancer. 1998 Jun;77(12):2081-7. doi: 10.1038/bjc.1998.351.
• [215] Integrins mediate adhesion of medulloblastoma cells to tenascin and activate pathways associated with survival and proliferation.Lab Invest. 2008 Nov;88(11):1143-56. doi: 10.1038/labinvest.2008.89. Epub 2008 Sep 15.
• [216] The histone acetyltransferase hMOF is frequently downregulated in primary breast carcinoma and medulloblastoma and constitutes a biomarker for clinical outcome in medulloblastoma.Int J Cancer. 2008 Mar 15;122(6):1207-13. doi: 10.1002/ijc.23283.
• [217] Lack of KBTBD4 Mutations in Molecularly Classified Brazilian Medulloblastomas.J Neuropathol Exp Neurol. 2019 Sep 1;78(9):788-790. doi: 10.1093/jnen/nlz066.
• [218] KCTD15 inhibits the Hedgehog pathway in Medulloblastoma cells by increasing protein levels of the oncosuppressor KCASH2.Oncogenesis. 2019 Nov 4;8(11):64. doi: 10.1038/s41389-019-0175-6.
• [219] Amplification and overexpression of Hsa-miR-30b, Hsa-miR-30d and KHDRBS3 at 8q24.22-q24.23 in medulloblastoma.PLoS One. 2009 Jul 7;4(7):e6159. doi: 10.1371/journal.pone.0006159.
• [220] The kinesin KIF14 is overexpressed in medulloblastoma and downregulation of KIF14 suppressed tumor proliferation and induced apoptosis.Lab Invest. 2017 Aug;97(8):946-961. doi: 10.1038/labinvest.2017.48. Epub 2017 May 15.
• [221] The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. Genes Dev. 2008 Apr 1;22(7):884-93. doi: 10.1101/gad.1648608. Epub 2008 Mar 11.
• [222] Kif3a is necessary for initiation and maintenance of medulloblastoma.Carcinogenesis. 2013 Jun;34(6):1382-92. doi: 10.1093/carcin/bgt041. Epub 2013 Feb 6.
• [223] MLL4 Is Required to Maintain Broad H3K4me3 Peaks and Super-Enhancers at Tumor Suppressor Genes.Mol Cell. 2018 Jun 7;70(5):825-841.e6. doi: 10.1016/j.molcel.2018.04.028. Epub 2018 May 31.
• [224] The genetic landscape of the childhood cancer medulloblastoma.Science. 2011 Jan 28;331(6016):435-9. doi: 10.1126/science.1198056. Epub 2010 Dec 16.
• [225] L1TD1 - a prognostic marker for colon cancer.BMC Cancer. 2019 Jul 23;19(1):727. doi: 10.1186/s12885-019-5952-2.
• [226] Molecular risk stratification of medulloblastoma patients based on immunohistochemical analysis of MYC, LDHB, and CCNB1 expression.Clin Cancer Res. 2008 Jul 1;14(13):4154-60. doi: 10.1158/1078-0432.CCR-07-4159.
• [227] Functional genomics identifies drivers of medulloblastoma dissemination.Cancer Res. 2012 Oct 1;72(19):4944-53. doi: 10.1158/0008-5472.CAN-12-1629. Epub 2012 Aug 8.
• [228] Blocking interleukin-6 signaling inhibits cell viability/proliferation, glycolysis, and colony forming activity of human medulloblastoma cells.Int J Oncol. 2018 Feb;52(2):571-578. doi: 10.3892/ijo.2017.4211. Epub 2017 Nov 22.
• [229] Mutations in Lyar and p53 are synergistically lethal in female mice.Birth Defects Res A Clin Mol Teratol. 2012 Sep;94(9):729-37. doi: 10.1002/bdra.23048. Epub 2012 Jul 19.
• [230] Overexpression of minichromosome maintenance protein 10 in medulloblastoma and its clinical implications.Pediatr Blood Cancer. 2017 Dec;64(12). doi: 10.1002/pbc.26670. Epub 2017 Jun 9.
• [231] The medulloblastoma cell line DAOY but not eleven other tumor cell lines expresses minichromosome maintenance protein 4.Cancer Lett. 2006 Jul 8;238(1):76-84. doi: 10.1016/j.canlet.2005.06.024. Epub 2005 Jul 26.
• [232] CRABP-II methylation: a critical determinant of retinoic acid resistance of medulloblastoma cells.Mol Oncol. 2012 Feb;6(1):48-61. doi: 10.1016/j.molonc.2011.11.004. Epub 2011 Nov 25.
• [233] The homeobox gene MEIS1 is amplified in IMR-32 and highly expressed in other neuroblastoma cell lines.Eur J Cancer. 2000 Dec;36(18):2368-74. doi: 10.1016/s0959-8049(00)00332-4.
• [234] Analysis of transcripts from 17p13.3 in medulloblastoma suggests ROX/MNT as a potential tumour suppressor gene.Eur J Cancer. 2004 Nov;40(16):2525-32. doi: 10.1016/j.ejca.2004.08.005.
• [235] Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.Cancer. 2007 Jun 1;109(11):2349-56. doi: 10.1002/cncr.22697.
• [236] Developmental expression and differentiation-related neuron-specific splicing of metastasis suppressor 1 (Mtss1) in normal and transformed cerebellar cells.BMC Dev Biol. 2007 Oct 9;7:111. doi: 10.1186/1471-213X-7-111.
• [237] MYC family amplification and clinical risk-factors interact to predict an extremely poor prognosis in childhood medulloblastoma.Acta Neuropathol. 2012 Apr;123(4):501-13. doi: 10.1007/s00401-011-0923-y. Epub 2011 Dec 3.
• [238] Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.Eur J Med Genet. 2019 Aug;62(8):103701. doi: 10.1016/j.ejmg.2019.103701. Epub 2019 Jun 10.
• [239] Germline Genetic Predisposition to Hematologic Malignancy.J Clin Oncol. 2017 Mar 20;35(9):1018-1028. doi: 10.1200/JCO.2016.70.8644. Epub 2017 Feb 13.
• [240] Neuralized1 causes apoptosis and downregulates Notch target genes in medulloblastoma.Neuro Oncol. 2010 Dec;12(12):1244-56. doi: 10.1093/neuonc/noq091. Epub 2010 Sep 16.
• [241] Neurogenic differentiation factor 1 promotes colorectal cancer cell proliferation and tumorigenesis by suppressing the p53/p21 axis.Cancer Sci. 2020 Jan;111(1):175-185. doi: 10.1111/cas.14233. Epub 2019 Dec 10.
• [242] Expression of neurogenic basic helix-loop-helix genes in primitive neuroectodermal tumors.Cancer Res. 1997 Aug 15;57(16):3526-31.
• [243] RalA is overactivated in medulloblastoma.J Neurooncol. 2016 Oct;130(1):99-110. doi: 10.1007/s11060-016-2236-4. Epub 2016 Aug 26.
• [244] An integrated approach identifies Nhlh1 and Insm1 as Sonic Hedgehog-regulated genes in developing cerebellum and medulloblastoma.Neoplasia. 2008 Jan;10(1):89-98. doi: 10.1593/neo.07891.
• [245] Coexpression of neuronatin splice forms promotes medulloblastoma growth.Neuro Oncol. 2008 Oct;10(5):716-24. doi: 10.1215/15228517-2008-038. Epub 2008 Aug 13.
• [246] NRL and CRX Define Photoreceptor Identity and Reveal Subgroup-Specific Dependencies in Medulloblastoma.Cancer Cell. 2018 Mar 12;33(3):435-449.e6. doi: 10.1016/j.ccell.2018.02.006.
• [247] Mass spectrometric identification of serine hydrolase OVCA2 in the medulloblastoma cell line DAOY.Cancer Lett. 2006 Sep 28;241(2):235-49. doi: 10.1016/j.canlet.2005.10.023. Epub 2005 Dec 20.
• [248] Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes.Genomics. 1999 Feb 15;56(1):1-11. doi: 10.1006/geno.1998.5647.
• [249] Microarray analysis detects novel Pax3 downstream target genes.J Biol Chem. 2001 Dec 28;276(52):49299-309. doi: 10.1074/jbc.M107933200. Epub 2001 Oct 5.
• [250] PCDH10 is a candidate tumour suppressor gene in medulloblastoma.Childs Nerv Syst. 2011 Aug;27(8):1243-9. doi: 10.1007/s00381-011-1486-x. Epub 2011 May 20.
• [251] Polycomb genes expression as a predictor of poor clinical outcome in children with medulloblastoma.Childs Nerv Syst. 2011 Jan;27(1):79-86. doi: 10.1007/s00381-010-1260-5. Epub 2010 Aug 18.
• [252] Correction: Casein kinase 2 inhibition sensitizes medulloblastoma to temozolomide.Oncogene. 2020 Feb;39(9):2029. doi: 10.1038/s41388-019-1077-y.
• [253] Integrated genomics has identified a new AT/RT-like yet INI1-positive brain tumor subtype among primary pediatric embryonal tumors.BMC Med Genomics. 2015 Jun 25;8:32. doi: 10.1186/s12920-015-0103-3.
• [254] PHOX2B is a reliable immunomarker in distinguishing peripheral neuroblastic tumours from CNS embryonal tumours.Histopathology. 2018 Sep;73(3):483-491. doi: 10.1111/his.13648. Epub 2018 Jul 4.
• [255] SHP2, SOCS3 and PIAS3 Expression Patterns in Medulloblastomas: Relevance to STAT3 Activation and Resveratrol-Suppressed STAT3 Signaling.Nutrients. 2016 Dec 27;9(1):3. doi: 10.3390/nu9010003.
• [256] Human D3 dopamine receptor in the medulloblastoma TE671 cell line: cross-talk between D1 and D3 receptors.FEBS Lett. 1998 Nov 13;439(1-2):138-42. doi: 10.1016/s0014-5793(98)01356-8.
• [257] Numb Isoforms Deregulation in Medulloblastoma and Role of p66 Isoform in Cancer and Neural Stem Cells.Front Pediatr. 2018 Nov 1;6:315. doi: 10.3389/fped.2018.00315. eCollection 2018.
• [258] Decrease of Nibrin expression in chronic hypoxia is associated with hypoxia-induced chemoresistance in some brain tumour cells.BMC Cancer. 2019 Apr 3;19(1):300. doi: 10.1186/s12885-019-5476-9.
• [259] Novel Brn3a cis-acting sequences mediate transcription of human trkA in neurons.J Neurochem. 2008 Apr;105(2):425-35. doi: 10.1111/j.1471-4159.2007.05139.x. Epub 2007 Dec 12.
• [260] Dual role of the integrated stress response in medulloblastoma tumorigenesis.Oncotarget. 2016 Sep 27;7(39):64124-64135. doi: 10.18632/oncotarget.11873.
• [261] MiR-383 is downregulated in medulloblastoma and targets peroxiredoxin 3 (PRDX3).Brain Pathol. 2013 Jul;23(4):413-25. doi: 10.1111/bpa.12014. Epub 2013 Jan 9.
• [262] Metastatic group 3 medulloblastoma is driven by PRUNE1 targeting NME1-TGF--OTX2-SNAIL via PTEN inhibition.Brain. 2018 May 1;141(5):1300-1319. doi: 10.1093/brain/awy039.
• [263] p53 Function Is Compromised by Inhibitor 2 of Phosphatase 2A in Sonic Hedgehog Medulloblastoma.Mol Cancer Res. 2019 Jan;17(1):186-198. doi: 10.1158/1541-7786.MCR-18-0485. Epub 2018 Sep 17.
• [264] Quantitative PCR analysis of the expression profile of genes related to multiple drug resistance in tumors of the central nervous system.J Neurooncol. 2007 Oct;85(1):1-10. doi: 10.1007/s11060-007-9382-7. Epub 2007 Apr 12.
• [265] Implementation of a High-Throughput Pilot Screen in Peptide Hydrogel-Based Three-Dimensional Cell Cultures.SLAS Discov. 2019 Aug;24(7):714-723. doi: 10.1177/2472555219844570. Epub 2019 Apr 30.
• [266] RASSF1A and the BH3-only mimetic ABT-737 promote apoptosis in pediatric medulloblastoma cell lines. Neuro Oncol. 2011 Dec;13(12):1265-76. doi: 10.1093/neuonc/nor129. Epub 2011 Aug 31.
• [267] RITA downregulates Hedgehog-GLI in medulloblastoma and rhabdomyosarcoma via JNK-dependent but p53-independent mechanism.Cancer Lett. 2019 Feb 1;442:341-350. doi: 10.1016/j.canlet.2018.11.005. Epub 2018 Nov 14.
• [268] Mutations of rabphillin-3A-like gene in colorectal cancers.Oncol Rep. 2002 Nov-Dec;9(6):1189-92.
• [269] CIC, a gene involved in cerebellar development and ErbB signaling, is significantly expressed in medulloblastomas.J Neurooncol. 2005 Jun;73(2):101-8. doi: 10.1007/s11060-004-4598-2.
• [270] SGNE1/7B2 is epigenetically altered and transcriptionally downregulated in human medulloblastomas. Oncogene. 2007 Aug 16;26(38):5662-8. doi: 10.1038/sj.onc.1210338. Epub 2007 Mar 5.
• [271] Comparison of somatostatin receptor expression in human gliomas and medulloblastomas.J Neuroendocrinol. 2002 Jun;14(6):458-71. doi: 10.1046/j.1365-2826.2002.00801.x.
• [272] Downregulation of microRNA-431 by human interferon- inhibits viability of medulloblastoma and glioblastoma cells via upregulation of SOCS6.Int J Oncol. 2014 May;44(5):1685-90. doi: 10.3892/ijo.2014.2317. Epub 2014 Feb 28.
• [273] Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with caf-au-lait spots.Fam Cancer. 2019 Jul;18(3):353-358. doi: 10.1007/s10689-019-00121-z.
• [274] Molecular genetic analysis of the hepatocyte growth factor/MET signaling pathway in pediatric medulloblastoma.Genes Chromosomes Cancer. 2012 Jul;51(7):675-88. doi: 10.1002/gcc.21954. Epub 2012 Mar 23.
• [275] Expression and clinical relevance of SPOPL in medulloblastoma.Oncol Lett. 2017 Sep;14(3):3051-3056. doi: 10.3892/ol.2017.6500. Epub 2017 Jun 30.
• [276] A sensitized RNA interference screen identifies a novel role for the PI3K p110 isoform in medulloblastoma cell proliferation and chemoresistance. Mol Cancer Res. 2011 Jul;9(7):925-35. doi: 10.1158/1541-7786.MCR-10-0200. Epub 2011 Jun 7.
• [277] Downregulation of SUN2, a novel tumor suppressor, mediates miR-221/222-induced malignancy in central nervous system embryonal tumors.Carcinogenesis. 2014 Oct;35(10):2164-74. doi: 10.1093/carcin/bgu105. Epub 2014 May 15.
• [278] Inhibition of NF-B signaling commits resveratrol-treated medulloblastoma cells to apoptosis without neuronal differentiation.J Neurooncol. 2011 Aug;104(1):169-77. doi: 10.1007/s11060-010-0496-y. Epub 2010 Dec 16.
• [279] Overexpression of TEAD4 in atypical teratoid/rhabdoid tumor: New insight to the pathophysiology of an aggressive brain tumor.Pediatr Blood Cancer. 2017 Jul;64(7). doi: 10.1002/pbc.26398. Epub 2016 Dec 14.
• [280] Nervous system tumors associated with familial tumor syndromes.Curr Opin Neurol. 2010 Dec;23(6):583-91. doi: 10.1097/WCO.0b013e3283405b5f.
• [281] Identification of a novel homozygous deletion region at 6q23.1 in medulloblastomas using high-resolution array comparative genomic hybridization analysis.Clin Cancer Res. 2005 Jul 1;11(13):4707-16. doi: 10.1158/1078-0432.CCR-05-0128.
• [282] Regulation of Gli ciliary localization and Hedgehog signaling by the PY-NLS/karyopherin-2 nuclear import system.PLoS Biol. 2017 Aug 4;15(8):e2002063. doi: 10.1371/journal.pbio.2002063. eCollection 2017 Aug.
• [283] Transcriptional profiling of medulloblastoma in children.J Neurosurg. 2003 Sep;99(3):534-41. doi: 10.3171/jns.2003.99.3.0534.
• [284] Loss of Pin1 Suppresses Hedgehog-Driven Medulloblastoma Tumorigenesis.Neoplasia. 2017 Mar;19(3):216-225. doi: 10.1016/j.neo.2017.01.002. Epub 2017 Feb 3.
• [285] Trim32 suppresses cerebellar development and tumorigenesis by degrading Gli1/sonic hedgehog signaling.Cell Death Differ. 2020 Apr;27(4):1286-1299. doi: 10.1038/s41418-019-0415-5. Epub 2019 Sep 17.
• [286] The interplay between TGF--stimulated TSC22 domain family proteins regulates cell-cycle dynamics in medulloblastoma cells.J Cell Physiol. 2019 Aug;234(10):18349-18360. doi: 10.1002/jcp.28468. Epub 2019 Mar 25.
• [287] STK25 protein mediates TrkA and CCM2 protein-dependent death in pediatric tumor cells of neural origin.J Biol Chem. 2012 Aug 24;287(35):29285-9. doi: 10.1074/jbc.C112.345397. Epub 2012 Jul 10.
• [288] Frequent but borderline methylation of p16 (INK4a) and TIMP3 in medulloblastoma and sPNET revealed by quantitative analyses.J Neurooncol. 2007 May;83(1):17-29. doi: 10.1007/s11060-006-9309-8. Epub 2007 Jan 6.
• [289] Overexpression of Lin28b in Neural Stem Cells is Insufficient for Brain Tumor Formation, but Induces Pathological Lobulation of the Developing Cerebellum.Cerebellum. 2017 Feb;16(1):122-131. doi: 10.1007/s12311-016-0774-0.
• [290] PID1 increases chemotherapy-induced apoptosis in medulloblastoma and glioblastoma cells in a manner that involves NFB.Sci Rep. 2017 Apr 11;7(1):835. doi: 10.1038/s41598-017-00947-6.
• [291] Expression of alpha-, beta-, and gamma-synuclein in glial tumors and medulloblastomas.Acta Neuropathol. 2003 Aug;106(2):167-75. doi: 10.1007/s00401-003-0718-x. Epub 2003 May 28.
• [292] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.