PatientID: 12

KindredID: 12

Case: 32Y0M, Sex Unknown, Argentinian

DiseaseAssertion: VHL

FamilyInfo: Family history unremarkable; Patient was confirmed to have a de novo mutation.

CasePresentingHPOs: HP:0010797; HP:0009711; HP:0000107; HP:0030424 (hemangioblastoma; retinal capillary hemangioma; renal cyst; epididymal cyst)

CaseHPOFreeText: Aged 32Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. Retinal hemangioblastomas and CNS hemangioblastomas diagnosed at 32Y, renal cysts were also diagnosed at 32Y, while epididymal cysts were diagnosed first at 23Y (See Table 1 & 2).

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.V74Sfs*53 (c.219_232delGGTCATCTTCTGCA)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA2497423672 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2497423672

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_2_frameshift_variant

CivicName: V74Sfs*53 (c.219_232delGGTCATCTTCTGCA)

MultipleGeneVariants: N/A

GroupID: 10

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: VHL

CohortInfo: a retrospective cohort study from an eye centre in Germany involved 148 VHL patients and their genetic data involved in retinal capillary hemangiomas.

CasePresentingHPOs: N/A

CaseHPOFreeText: This individual patient did NOT have retinal capillary hemangiomas. Other VHL manifestations were discussed but not per- variant.

CaseNotHPOs: HP:0009711 (retinal capillary hemangioma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Yes - Supplementary Table S1

Variant: p.F136Lfs*23 (c.408delT)

LegacyVariant: N/A

GroupProblemVariantFreeText: N/A

ClinVarID: 43601 https://www.ncbi.nlm.nih.gov/clinvar/variation/43601/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: F136LFS*23 (c.408del)

MultipleGeneVariants: N/A

PatientID: 1

KindredID: 1

Case: F, 25Y0M, Ethnicity Unknown

DiseaseAssertion: assumed VHL

FamilyInfo: The family medical history disclosed the presence of symptoms of VHLD in the patient’s grandfather, uncle, and father. In particular, the patient’s father presented with multi-tumor syndrome and a confirmed genetic mutation of c.194C>T. The father died of disseminated bilateral renal cell carcinoma of kidneys with multi-organ distant metastases at the age of 43.

CasePresentingHPOs: HP:0006880;HP:0030393 (cerebellar hemangioblastoma, endolymphatic sac tumour)

CaseHPOFreeText: Woman presented with slowly progressive and gradual decrease in hearing (beginning at 24Y). At 23Y the patient had undergone brain surgery because of hemangioblastoma of the cerebellum. Physical examination revealed a middle ear mass that protruded into the external auditory canal (recurrent restrictive tumor)

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.S65L (c.194C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 182975, https://www.ncbi.nlm.nih.gov/clinvar/variation/182975/

CAID: N/A

gnomAD: https://gnomad.broadinstitute.org/variant/3-10183725-C-T

VariantEvidence: genetic tests on tissue but suspected germline because father had same mutation, and 2 different tissue samples had same mutation; grandfather and uncle had VHL symptoms but not specified and no genetic confirmation

MutationType: missense_variant;transition

CivicName: S65L (c.194C>T)

MultipleGeneVariants: N/A

PatientID: None

KindredID: 4

Case: Unknown, 24Y0M, Chinese

DiseaseAssertion:VHL

FamilyInfo: None.

CasePresentingHPOs: HP:0010797, HP:0001732 (hemangioblastoma, abnormality of the pancreas)

CaseHPOFreeText:The patient presented with hemangioblastoma at age 23. One year later he/she was found to have pancreatic cysts or tumors.

CaseNotHPOs: HP:0009711, HP:0002666, HP:0005584 (retinal capillary hemangioma, pheochromocytoma, renal cell carcinoma)

CaseNotHPOFreeText: No epididymal/ovarian cystadenomas.

CasePreviousTesting: N/A

PreviouslyPublished: 29330336

Variant: p.D92Afs*40(c.275delAinsCC)

LegacyVariant:N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA1139768933 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.275delAinsCC

gnomAD: N/A

VariantEvidence: N/A

MutationType: delins

CivicName:D92fs(c.275delAinsCC)

MultipleGeneVariants: N/A

PatientID: None (Grand Cousin 1)

KindredID: G

Case: Sex Unknown, 23Y0M, Hungarian

DiseaseAssertion: Assumed VHL

FamilyInfo: Large VHL family spanning five generations. The index patient presented with pheochromocytoma, renal cell carcinoma as well as spinal cord, cerebellar, and medulla oblongata hemangioblastomas. Her parents showed no clinical, biochemical, or radiological evidence of the disease, but VHL-associated tumors were detected in five other family members (bilateral renal cell carcinomas in one, renal cysts in one, spinal cord, cerebellar, and medulla oblongata hemangioblastomas in three, retinal hemangioblastomas in four, and pheochromocytomas in two family members).

CasePresentingHPOs: HP:0010797; HP:0009711; HP:0005562 (Hemangioblastoma, Retinal capillary hemangioma, Multiple renal cysts)

CaseHPOFreeText: Presented with CNS hemangioblastoma at age 22 and retinal hemangioblastoma at age 23. No VHL diagnosis noted but assumed to have VHL based on genetic, clinical and familial findings.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 18416845

SupplementalData: N/A

Variant: p.S80I (c.239G>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 625229, https://www.ncbi.nlm.nih.gov/clinvar/variation/625229/

CAID: N/A

gnomAD: N/A

VariantEvidence: Variant reported as S80I and cDNA change was mapped to c.239G>T.

MutationType: missense_variant;transversion

CivicName: S80I (c.239G>T)

MultipleGeneVariants: N/A

PatientID: S-V1

KindredID: S-V1

Case: M, 48Y0M, Korean

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0005584; HP:0005562 (Renal cell carcinoma, Multiple renal cysts)

CaseHPOFreeText: Bilateral RCC and multiple renal cysts. Diagnosed with VHL type 1.

CaseNotHPOs: HP:0010797; HP:0002666 (Hemangioblastoma, Pheochromocytoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 25078357

SupplementalData: N/A

Variant: p.R108Hfs*23 (c.323_324del)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA916832609, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA916832609

gnomAD: N/A

VariantEvidence: N/A

MutationType: deletion; minus_2_frameshift_variant

CivicName: R108Hfs*23 (c.323_324del)

MultipleGeneVariants: N/A

GroupID: 61

Case: Age Unknown, Sex Unknown, Ethnicity Unknown

DiseaseAssertion: assumed VHL

FamilyInfo: 1 of the 573 patients discussed in this paper were found to have this variant. This mutation (c.262T>A) was found in 1 VHL family with a single patient.

CasePresentingHPOs: HP:0005584; HP:0009711; HP:0006880 (renal cell carcinoma; retinal capillary hemangioma; cerebellar hemangioblastoma)

CaseHPOFreeText: patient had retinal angioma diagnosed at 23Y, cerebellar hemangioblastoma diagnosed at 54Y, and RCC at 54Y.

CaseNotHPOs: HP:0002666 (pheochromocytoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Supplementary Table S1.

Variant: p.W88R (c.262T>A)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 456577 https://www.ncbi.nlm.nih.gov/clinvar/variation/456577/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: W88R (c.262T>A)

MultipleGeneVariants: N/A

PatientID: 23

KindredID: 23

Case: M, 48Y0M, Korean

DiseaseAssertion: VHL

FamilyInfo: No family history of VHL.

CohortInfo: 26 Korean patients with more than one HAB in the CNS or eye, a single HAB in the CNS or retina plus a visceral manifestation (multiple renal, pancreatic or hepatic cysts, pheochromocytoma and RCC) and positive family history plus any one of the above manifestations.

CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

CaseHPOFreeText: Multiple or bilateral renal cell carcinoma. Other phenotypes presented but not specified (one or more of: pancreatic cyst or tumor, renal or hepatic cyst). Diagnosed with VHL Type 1. Phenotypes revised from previous reports (see “PreviouslyPublished” section below for PMID).

CaseNotHPOs: HP:0009711; HP:0002666; HP:0010797 (Retinal capillary hemangioma, Pheochromocytoma, Hemangioblastoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 16142346

SupplementalData: N/A

Variant: p.R108Hfs*23 (c.323_324del)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA916832609, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA916832609

gnomAD: N/A

VariantEvidence: N/A

MutationType: deletion; minus_2_frameshift_variant

CivicName: R108Hfs*23 (c.323_324del)

MultipleGeneVariants: N/A

PatientID: 66

KindredID: 66

Case: Sex, Age, Ethnicity unknown

DiseaseAssertion: VHL (asymptomatic)

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0030421; HP:0009711; HP:0030405; HP:0006770; HP:0100634; HP:0010797 (epididymal tumour, retinal capillary hemangioma, pancreatic endocrine tumour, clear cell renal cell carcinoma, neuroendocrine neoplasm, hemangioblastoma)

CaseNotHPOFreeText: patient was not recorded to have an epididymal tumor, a pancreatic endocrine tumour (pancreatic neuroendocrine neoplasm), CCRCC, a neuroendocrine neoplasm (pheochromocytoma/paraganglioma), nor a CNS hemangioblamstoma.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Yes; see table S1 for VHL subject genetic and manifestation information.

Variant: p.F136Lfs*23 (c.408delT)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 43601 https://www.ncbi.nlm.nih.gov/clinvar/variation/43601/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: F136Lfs*23 (c.408delT)

MultipleGeneVariants: N/A

PatientID: 46

KindredID: 46 **

Case: Sex, Age, Ethnicity unknown

DiseaseAssertion: VHL

FamilyInfo: ** Patients 46, 50, 71, and 72 were reported previously in Aronoff et al, 2018 (PMID: 29437867) as family 5

CasePresentingHPOs: HP:0010797 (hemangioblastoma)

CaseHPOFreeText: CNS hemangioblamstoma

CaseNotHPOs: HP:0030421; HP:0009711; HP:0030405; HP:0006770; HP:0100634 (epididymal tumour, retinal capillary hemangioma, pancreatic endocrine tumour, clear cell renal cell carcinoma, neuroendocrine neoplasm)

CaseNotHPOFreeText: patient was not recorded to have an epididymal tumor, a pancreatic endocrine tumour (pancreatic neuroendocrine neoplasm), CCRCC, nor a neuroendocrine neoplasm (pheochromocytoma/paraganglioma)

CasePreviousTesting: N/A

PreviouslyPublished: 29437867

SupplementalData: Yes; see table S1 for VHL subject genetic and manifestation information.

Variant: p.F136Lfs*23 (c.408delT)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 43601 https://www.ncbi.nlm.nih.gov/clinvar/variation/43601/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: F136Lfs*23 (c.408delT)

MultipleGeneVariants: N/A

PatientID: III-9

KindredID: 1

Case: F, 32Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Large multigenerational family with a history of both VHL and spinocerebellar ataxia type 2 (SCA2). Screening for clinical and genetic diagnostics were gathered as well as thorough information on non-living members. See family pedigree (Fig. 1).

CasePresentingHPOs: HP:0010797; HP:0009711; HP:0000541; HP:0002542; HP:0001737; HP:0000107; HP:0030405; HP:0001272; HP:0007366; HP:0010873; HP:0001251; HP:0001260; HP:0001310 (hemangioblastoma, Retinal capillar hemangioma, Retinal detachment, Olivopontocerebellar atrophy, Pancreatic cysts, Renal cyst, Pancreatic endocrine tumor, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cervical spinal cord atrophy, Ataxia, Dysarthria, Dysmetria)

CaseHPOFreeText: diagnosed with VHL in her early teenage years. She had retinal involvement beginning at the age of 13 treated by cryotherapy and laser therapy (presumably for retinal angiomas); and retinal detachment at the age of 23 requiring eye surgery. She had cysts of the pancreas and kidney detected at 22 years. She has also carried the diagnosis of OPCA since the age of 26-28 (new onset slurred speech and illegible handwriting). Patient had multiple renal cysts without renal tumours, however a large infiltrative enhancing mass in the tail of the pancreas was suggestive of a neuroendocrine/islet cell carcinoma, and liver metastatic foci

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.E160Sfs*10 (c.477delA)

LegacyVariant: c.688delA

CaseProblemVariantFreeText: c.477del, p.Glu160Serfs10 should be used. Details: 477del same as 475delA bc that codon is AAA so doesn't matter which A gets deleted: there is an A at 475 476 477 so for HGVS we say that 477 (the latter) is deleted since that follows HGVS nomenclature. Thus use c.477del: p.Glu160Serfs10

ClinVarID: 182959 https://www.ncbi.nlm.nih.gov/clinvar/variation/182959/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: E160fs (c.477del)

MultipleGeneVariants: SCA2 (an abnormal increase in CAG repeats in one allele of her ataxin-2 gene. This abnormal trinucleotide expansion is consistent with the diagnosis of spinocerebellar ataxia type 2)

PatientID: 4

KindredID: 4

Case: F, 23Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: The patient had a family specific p.Arg64Pro mutation, and VHL disease had a heterogeneous presentation in the family. The patient’s father initially presented with bilateral pheochromocytomas and clear cell renal carcinoma, and the patient’s son underwent unilateral adrenalectomy for pheochromocytoma at the age of 7.

CasePresentingHPOs: HP:0002668 (Paraganglioma)

CaseHPOFreeText: The patient was asymptomatic and presented with a palpable mass on the left side of the neck during a routine check-up. Somatostatin receptor scintigraphy revealed a hotspot near the left carotid artery, which indicated a paraganglioma. The paraganglioma was 2.5cm in size, and histological examination of it post-resection confirmed it was a paraganglioma. The patient did not present with any later tumors, although the length of follow-up is not specified.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R64P (c.191G>C)

ClinVarID: 2226, https://www.ncbi.nlm.nih.gov/clinvar/variation/2226/

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: R64P(c.191G>C)

MultipleGeneVariants: N/A

PatientID: 136

KindredID: 51

Case: M, 25Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: The proband (patient 136) has a mother (patient 137) who presented with a CNS hemangioblastoma at 32, and renal cell carcinoma/ pheochromocytoma at 38. However, no DNA sample was available for his mother's genetic testing.

CasePresentingHPOs: HP:0010797, HP:0001737, HP:0001732, HP:0005584 (Hemangioblastoma, Pancreatic cysts, Abnormality of the pancreas, Renal cell carcinoma)

CaseHPOFreeText: The proband (patient 136) presented with multiple pancreatic cysts/tumors at 21, renal cell carcinoma at 23, and a CNS hemangioblastoma at 25.

CaseNotHPOs: HP:0002666; HP:0009711 (Pheochromocytoma, Retinal capillary hemangioma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: This patient was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

Variant: p.P146Gfs*14 (c.435_436ins)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA2573131810, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573131810

gnomAD: N/A

VariantEvidence: N/A

MutationType: plus_2_frameshift_variant

CivicName: P146Gfs*14 (c.435_436insGG)

MultipleGeneVariants: N/A

PatientID: IV-19

KindredID: 1

Case: F, 25Y0M, Iranian

DiseaseAssertion: assumed VHL

FamilyInfo: Familial history was positive. See Fig 1. A total of 43 members of the kindred, 24 males and 19 females, aged 2-77 years were reached for evaluation. It is stated in the paper that all affected subjects (13) were positive for the same mutation (c.500G>A). Additionally, gene sequencing revealed that 4 asymptomatic members of the kindred also harbored the pathogenic mutation. Phenotypes include pheochromocytoma, hemangioblastoma, and retinal HB.

CasePresentingHPOs: HP:0002666; HP:0006880 (Pheochromocytoma, cerebellar hemangiomblastoma)

CaseHPOFreeText: Patient had a unilateral PCC and cerebellar HB at 23Y which was surgically removed at the time. She presently has no abnormal findings.

CaseNotHPOs: HP:0000077 (abnormality of the kidney)

CaseNotHPOFreeText: There was no case of kidney tumors among the kindred.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R167Q (c.500G>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 2216, https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

CAID: N/A

gnomAD: 0.000003977, https://gnomad.broadinstitute.org/variant/3-10191507-G-A

VariantEvidence: N/A

MutationType: missense_variant; transition

CivicName: R167Q (c.500G>A)

MultipleGeneVariants: N/A

PatientID: 288

KindredID: 113

Case: M, 24Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: The proband (patient 288) presented with a CNS hemangioblastoma, renal cell carcinoma, and multiple pancreatic cysts/tumors at 23, and a retinal angioma at 24. Their sister (patient 289) presented with a CNS hemangioblastoma, retinal angioma, and renal cell carcinoma at 30.

CasePresentingHPOs: HP:0010797; HP:0001732; HP:0001737; HP:0005584; HP:0009711 (Hemangioblastoma, Abnormality of the pancreas, Pancreatic cysts, Renal cell carcinoma, Retinal capillary hemangioma)

CaseHPOFreeText: The proband (patient 288) presented with a CNS hemangioblastoma, renal cell carcinoma, and multiple pancreatic cysts/tumors at 23, and a retinal angioma at 24.

CaseNotHPOs: HP:0002666 (Pheochromocytoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: This cohort was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

Variant: Exon 3 Deletion (c.464-?_642+?del)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: exon_loss_variant

CivicName: Exon 3 Deletion

MultipleGeneVariants: N/A

PatientID: None

KindredID: Family C

Case: M, 54Y0M, Ethnicity Unknown

DiseaseAssertion: Assumed VHL

FamilyInfo: There was no family history of VHL disease or familial pheochromocytoma. Her parents (mother age 85, father age 79) were asymptomatic and were not available for DNA testing. A 58-year-old maternal half-brother was tested and did not carry the mutation.

CasePresentingHPOs: HP:0006748, HP:0000107, HP:0009713 (adrenal pheochromocytoma, renal cyst, spinal hemangioblastoma)

CaseHPOFreeText: The patient had bilateral pheochromocytoma. A small vascular lesion was identified by a screening MRI, which that authors of the papers assumed could possibly a spinal hemangioblastoma,

CaseNotHPOs: None

CaseNotHPOFreeText: No other central nervous system abnormalities were detected and her ophthalmologic examination was normal.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.V84L (c.250G>T)

LegacyVariant: p.V84L (c.463G>T)

ClinVar: 2236 https://www.ncbi.nlm.nih.gov/clinvar/variation/2236/

CAID: CA020170 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.250G%3ET

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: V84L (c.250G>T)

MultipleGeneVariants: N/A

PatientID: 1

KindredID: 1

Case: F, 24Y0M, Brazilian

DiseaseAssertion: VHL

FamilyInfo: VHL type 1 family. No family history of VHL disease. Parents were not available for testing. However, this paper reports that this proband belongs to a different family from that reported by Rocha et al. (PMID: 12624160) as Family 1, with 5 individuals.

CasePresentingHPOs: HP:0010797; HP:0000107; HP:0001737 (hemangioblastoma; renal cysts; pancreatic cysts)

CaseHPOFreeText: hemangioblastoma diagnosed at 23Y; and renal and pancreatic cysts at 24Y

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 12624160; 32179488

SupplementalData: Yes

Variant: p.F76del (c.226_228delTTC)

LegacyVariant: N/A

CaseProblemVariantFreeText: NM_000551.3:c.226_228delTTC automaps to NM_000551.3:c.227_229delTCT due to redundancy

ClinVarID: N/A

CAID: CA357012 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.226_228delTTC

gnomAD: N/A

VariantEvidence: N/A

MutationType: inframe_deletion

CivicName: F76del (c.226_228delTTC)

MultipleGeneVariants: N/A

PatientID: 7

KindredID: 7

Case: 23Y0M, Sex Unknown, Argentinian

DiseaseAssertion: VHL

FamilyInfo: Thus far, it has not been possible to study the parents or close relatives of this patient.

CasePresentingHPOs: HP:0009711; HP:0000107 (retinal capillary hemangioma; renal cyst)

CaseHPOFreeText: Aged 22Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. Bilateral retinal hemangioblastomas diagnosed at 22Y, and renal cysts were diagnosed at 23Y (See Table 1 & 2).

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Q132Hfs*45 (c.343_395dup)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA2497030272 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2497030272

gnomAD: N/A

VariantEvidence: N/A

MutationType: plus_2_frameshift_variant; duplication

CivicName: Q132Hfs*45 (c.343_395dup)

MultipleGeneVariants: N/A

PatientID: N/A

KindredID: 1

Case: M, 33Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: Genetic analysis of the patient's parents and brothers, who were unaffected, confirmed a diagnosis of de novo VHL disease.

CasePresentingHPOs: HP:0030424, HP:0009711, HP:0005584, HP:0006770, HP:0001737, HP:0000107 (epididymal cyst, retinal capillary hemangioma, renal cell carcinoma, clear cell renal cell carcinoma, pancreatic cysts, renal cyst)

CaseHPOFreeText: He was admitted to the hospital with a two-month history of progressive right flank pain, accompanied by a one-month history of recurrent painless gross hematuria. The patient's previous medical history included urological surgery at the age of 23 years due to an epididymal cyst and an ophthalmologic surgery at 26 years of age for retinal detachment resulting from bilateral retinal angiomatosis. Contrast-enhanced computed tomography (CT) scanning and angiography were used to detect the presence of quasi-circular enhancing lesions in the middle of the left kidney and large irregular enhancing lesions in the right kidney, extending into the vena cava, that formed an embolus. In addition, multiple cysts in the pancreas and kidney were detected radiologically. The patient underwent a radical nephrectomy with an embolectomy of the right kidney for treatment of T3b-stage renal cell carcinoma. After three months, he successfully underwent laparoscopic nephron-sparing surgery (NSS) of the left kidney. Histological analysis of the renal tissue revealed clear cell carcinomas.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.S65W(c.194C>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 43597 https://www.ncbi.nlm.nih.gov/clinvar/variation/43597/

CAID: CA020099 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.194C%3EG

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName:S65W(c.194C>G)

MultipleGeneVariants: N/A

PatientID: 8

KindredID: 5

Case: M, 5Y0M, Ethnicity Unknown

DiseaseAssertion: Asymptomatic

FamilyInfo: Positive. The patient's mother (5) and aunt (4) were confirmed to have the mutation and had VHL presentations. The patient's cousin was the proband (1) and also had the mutation and presented with hemangioblastoma and abnormality of the pancreas.The grandfather (13) was inferred to have the mutation and had a hemangioblastoma. See Figure 2a for family pedigree.

CohortInfo: 20 unrelated VHL families from an ethnically diverse cohort containing both affected and unaffected individuals.

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0009711, HP:0005584, HP:0002666, HP:0001732, HP:0000077, HP:0010797 (retinal capillary hemangioma, renal cell carcinoma, pheochromocytoma, abnormality of the pancreas, abnormality of the kidney, hemangioblastoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 31368132

SupplementalData: Supplementary file 1.

Variant: p.F136Lfs*23 (c.408delT)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 43601 https://www.ncbi.nlm.nih.gov/clinvar/variation/43601/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: F136Lfs*23 (c.408delT)

MultipleGeneVariants: N/A

PatientID: 1

KindredID: 5

Case: F, 13Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Positive. The patient's mother (4) also carried this mutation and had a hemangioblastoma. The proband's aunt (5) was confirmed to have the mutation and had VHL presentations. The cousin (8) had the mutation but was asymptomatic. The grandfather (13) was inferred to have the mutation and had a hemangioblastoma. See Figure 2a for family pedigree.

CohortInfo: 20 unrelated VHL families from an ethnically diverse cohort containing both affected and unaffected individuals.

CasePresentingHPOs: HP:0010797, HP:0001732 (hemangioblastoma, abnormality of the pancreas)

CaseHPOFreeText: The patient presented with a hemangioblastoma and abnormality of the pancreas at age 10.

CaseNotHPOs: HP:0009711, HP:0005584, HP:0002666, HP:0000077 (retinal capillary hemangioma, renal cell carcinoma, pheochromocytoma, abnormality of the kidney)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 31368132

SupplementalData: Supplementary file 1.

Variant: p.F136Lfs*23 (c.408delT)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 43601 https://www.ncbi.nlm.nih.gov/clinvar/variation/43601/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: F136Lfs*23 (c.408delT)

MultipleGeneVariants: N/A

PatientID: 16 (Uncle)

KindredID: 18

Case: M, 68Y0M, Ethnicity Unknown

DiseaseAssertion: Assumed VHL

FamilyInfo: 11 members of this family tested positive for the c.712C>T/c.499C>T germline variant of the VHL gene. 14 members of this family were assumed to carry this variant due to family history/personal medical history. Members of this family range from asymptomatic to multi-organ involvement (pheochromocytoma, pancreatic and renal cysts/tumors and hemangioblastomas). The family was previously reported in PMID 3942913.

CasePresentingHPOs: HP:0002666; HP:0005584; HP:0010797 (Pheochromocytoma, Renal cell carcinoma, Hemangioblastoma)

CaseHPOFreeText: This patient presented with pheochromocytoma (23Y). Age of diagnosis for CNS hemangioblastoma and renal cell carcinoma is unknown.

CaseNotHPOs: HP:0000077; HP:0001732; HP:0009711 (Abnormality of the kidney, Abnormality of the pancreas, Retinal capillary hemangioma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 3942913 (some members of this family are previously reported (phenotypes only) but unable to match patients across papers with confidence)

SupplementalData: Supplementary Table 1.

Variant: N/A

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

VariantEvidence: Authors state that the c.712C>T germline familial variant of the VHL gene in this patient is “inferred from the family”. No genetic testing was done on this patient to confirm this. Being that this familial variant is out of bound with respect to the NM_000551.3 reference sequence, it was concluded that this variant is noted in the Latif et al. (1993) reference and was translated to c.499C>T (NM_000551.3).

MutationType: N/A

CivicName: N/A

MultipleGeneVariants: N/A

GroupID: 8

DiseaseAssertion: assumed VHL

GroupSize: 15

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: Chinese

GroupAgeRange: 36.9Y +/- 15.6Y

GroupInfo: Clinical characteristics of 258 patients from 80 unrelated Chinese families were reported in this study. Grouped by the 21 mutations found, 3 families with 15 members total were described, and phenotypic information was given for this group.

GroupPresentingHPOs: HP:0010797; HP:0009711; HP:0005584; HP:0001737; HP:0002666 (hemangioblastoma, retinal capillary hemangioma, renal cell carcinoma, pancreatic cysts, pheochromocytoma)

GroupHPOFreeText: 10 of the 15 members presented with CNS hemangioblastoma (mean age of 29.9Y), 2/15 had retinal capillary hemangiomas at 23Y and 30Y, renal cell carcinoma in 4 members (at a mean age of 41.5Y), pancreatic cysts in 5 members (with a mean age of onset of 41.4Y), and 1 member with pheochromocytoma at 38Y

GroupNotHPOs: HP:0009715 (papillary cystadenoma of the epididymis)

GroupNotHPOFreeText: No patients were given with papillary cystadenoma of the epididymis

GroupPreviousTesting: N/A

PreviouslyPublished: 29330336; 28388566

SupplementalData: N/A

Variant: p.N90I (c.269A>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 223172 https://www.ncbi.nlm.nih.gov/clinvar/variation/223172/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: N90I (c.269A>T)

MultipleGeneVariants: N/A

PatientID: IV-13

KindredID: 1

Case: F, 27Y0M, Hungarian

DiseaseAssertion: VHL

FamilyInfo: The patient had an affected brother (IV-14) who carried the Ser80Asn mutation and presented with pheochromocytoma and retina hemangioblastoma. The patient's mother (III-7) carried the same mutation and had a brain hemangioblastoma and retina hemangioblastoma. The uncle (III-8) harboured the same mutation and had brain hemangioblastoma, pheochromocytoma, and retina hemangioblastoma. He had three kids, out of which only one carried the mutation but was asymptomatic (IV-16). The patient's grandmother (II-5) also harboured the same mutation and presented with renal cell carcinoma. This patient's great aunt (II-1) carried two different VHL mutations; the Ser80Asn and Pro25Leu but herself was asymptomatic. She passed the Ser80Asn mutation to her daughter, the proband (III-1), who had renal cell carcinoma, brain hemangioblastoma, and pheochromocytoma. Refer to figure 1 for pedigree.

CasePresentingHPOs: HP:0010797, HP:0009711, HP:0000107 (hemangioblastoma, retinal capillary hemangioma, renal cyst)

CaseHPOFreeText: The patient presented with brain hemangioblastoma at age 22, retina hemangioblastoma at age 23, and renal cysts at age 20.

CaseNotHPOs: HP:0005584, HP:0002666 (renal cell carcinoma, pheochromocytoma )

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.S80N (c.239G>A)

LegacyVariant: p.S80I (c.239G>A) *author mistake

CaseProblemVariantFreeText: N/A

ClinVarID:N/A

CAID: CA70046108 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.239G%3EA

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: S80N (c.239G>A)

MultipleGeneVariants: N/A

GroupID: 15

Case: 23Y0M, Sex Unknown, Ethnicity Unknown

DiseaseAssertion: assumed VHL

FamilyInfo: 1 of the 573 patients discussed in this paper were found to have this variant. This mutation was found in 1 VHL family with a single patient.

CasePresentingHPOs: HP:0009711; HP:0006880 (retinal capillary hemangioma; cerebellar hemangioblastoma)

CaseHPOFreeText: patient had retinal angiomas at 21Y and cerebellar hemangioblastomas diagnosed at 23Y

CaseNotHPOs: HP:0005584; HP:0002666 (renal cell carcinoma; pheochromocytoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Supplementary Table S1.

Variant: p.F91* (c.272_273delinsAA)

CaseProblemVariantFreeText: c.272T>A and c.273C>A results in c.272_273delinsAA

LegacyVariant: N/A

ClinVarID: CA2499307077 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2499307077

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: delins; stop_gained

CivicName: F91* (c.272_273delinsAA)

MultipleGeneVariants: N/A

PatientID: IV:10

KindredID: 1

Case: F, 28Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: A 5-generation family with VHL in 15 members. Both second generation children (presumed), 5 third generation, and 8 further generation individuals were affected and haplotyping was conducted using three polymorphic microsatellite markers. All of the 5th generation children (9 total at time of publication) had been sequenced and haplotyped as unaffected.

CasePresentingHPOs: HP:0006880; HP:0000107 (cerebellar hemangioblastoma, renal cysts)

CaseHPOFreeText: patient had cerebellar HB; renal cysts. Age of onset was 23Y, and surgery (operation) was 28Y

CaseNotHPOs: HP:0002666; HP:0030405; HP:0001737; HP:0002668 (pheochromocytoma, pancreatic endocrine tumor, pancreatic cysts, paraganglioma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R167W (c.499C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 2218, https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

CAID: N/A

gnomAD: 0.000007954, https://gnomad.broadinstitute.org/variant/3-10191506-C-T?dataset=gnomad_r2_1

VariantEvidence: genotyped three polymorphic microsatellite markers that flanked VHL on chromosome 3p25 (D3S3691, D3S1597 and D3S1263). 

MutationType: missense_variant;transition

CivicName: R167W (c.499C>T)

MultipleGeneVariants: N/A

DOI: 10.1016/j.celrep.2026.117113

Resource: (IMSR Cat# OBS_23,RRID:IMSR_OBS:23)

Curator: @scibot

SciCrunch record: RRID:IMSR_OBS:23

What is this?

wow the breakup trauma,they didn't end well

wow,tom told the truth to george,poor guy,but george doesn't seem to accept the truth

george start to accuse gastby as the murderer of his wife,i think hisa poor guy,everyone has been hiding secret from him.

Nick cares about Gatsby. He wants to make sure he is not alone. It also shows how abandoned Gatsby is at the end.

Gatsby’s hope was almost gone. Although he waited for the phone call, he likely knew it would never come. The call maybe symbolize the end of Gatsby’s dream.

Daisy’s decision was shaped by fear and pressure than by a lack of love. She need reassurance and stability, but Gatsby couldn’t give her at the time, this is the reason why she turned to Tom.

It’s interesting that either her husband or her brother are all physician and had same idea about her. It shows that how stressful the narrator would be if none of them believed she was sick.

I find it interesting because she understands his symptoms and needs better than her husband ,who is even a doctor.

It surprised me that her husband, who is a doctor, doesn’t believe she is sick at all. I would think a doctor should trust his patient’s feelings, especially when the patient is his wife.

This passage is troubling to me. John calls himself loving, but he controls every part of her life.This didn’t make her condition better,but made it worse.

I find this interesting because it shows irony. The narrator’s husband is a doctor, but instead of helping her recover, his actually makes her worse.

This is troubling because the narrator believes she has escaped by tearing down the wallpaper, but in reality she has lost her sanity.

The sentence is interesting because the narrator admits she cannot think clearly but then dismisses it as “just nervous weakness.”

The narrator sensed something that makes her insecure and afraid. And her emotions got triggered unreasonably because of it.

His husband and brother are both physicians, but they don’t seem to understand psychiatry. I actually think the main character, as a mental patient, knows better how to heal herself.

Surprising: This sentence surprising me because narrator have no idea what she done is crazy, she even confuse about why her husband fainted, showing she completely lose her mind.

interesting: This sentence imply that narrator's mental is not well.

OBC28 4<br /> by [[Dan Allosso]]<br /> accessed on 2025-08-23T18:00:08

Last session for The Notebook by Rolan Allen

https://danallosso.substack.com/p/notebook-book-club-meeting-4

https://www.marginnote.com/<br /> Note taking application with audio recording

https://www.youtube.com/watch?v=zCLCIw-HSJc

https://sustainingcommunity.wordpress.com/2019/02/01/4-types-of-power/#comment-122967

Given your area, if you haven't found it yet, you might appreciate going a generation further back in your references with: Mary P. Follett. Dynamic Administration: The Collected Papers of Mary Parker Follett, ed. by E. M. Fox and L. Urwick (London: Pitman Publishing, 1940). She had some interesting work in organization theory you might appreciate. Wikipedia can give you a quick overview. https://en.wikipedia.org/wiki/Mary_Parker_Follett#Organizational_theory

Things I Never Knew about my Father by Lisa Jardine<br /> https://soundcloud.com/conwayhall/things-i-never-knew-about-my

See also: https://web.archive.org/web/20141216103656/http://www.conwayhall.org.uk/lisa-jardine

https://taz.de/Aussenpolitische-Ziele-im-Ukraine-Krieg/!5989378/

Drei führende Klimawissenschaftler kritisieren die Illusion der "Net Zero-Politiken", die darauf setzen, das 1,5°-Ziel durch die Entfernung von CO2 aus der Atmosphäre zu erreichen. Sie werfen vielen ihrer KollegInnen vor, unrealistischen Konzepten nicht offen entgegenzutreten, um ihren politischen Einfluss nicht zu verlieren. Sie kritisieren auch die bisherigen Integrated Assessment Models des Weltklimarats, die von der Voraussetzung ausgehen würde, die Klimakatastrophe ließe sich mit marktwirtschaftlichen Mitteln beheben und fordern auf, deutlich zu sagen, dass sich eine Erhitzung der Erde auf 3 und mehr Grad nicht durch kleine Schritte, sondern nur durch einen Bruch mit dem bisherigen Wirtschaftssystem erreichen lässt.

Anstatt uns unseren Zweifeln zu stellen, beschlossen wir Wissenschaftler, immer aufwändigere Fantasiewelten zu konstruieren, in denen wir sicher wären. Der Preis, den wir für unsere Feigheit zahlen mussten: Wir mussten den Mund halten über die immer größer werdende Absurdität der geforderten Kohlendioxid-Entfernung im planetarischen Maßstab.

Greta Thunberg hat diesen Aufsatz als einen wichtigsten und informativsten Texte zur Klima- und ökologischen Krise bezeichnet.

Climate scientists: concept of net zero is a dangerous trap. Thread von Greta dazu auf Twitter: https://twitter.com/GretaThunberg/status/1385869663188492290

https://apnews.com/article/climate-change-liability-lawsuits-damage-trillions-5ad21e47b2aa16cc90cb7669f56297f1?utm_source=cbnewsletter&utm_medium=email&utm_term=2025-04-24&utm_campaign=Daily+Briefing+24+04+2025

Bei einem virtuellen Gipfel der Vereinten Nationen zur Klimakrise haben sich Hina, D.E.U., D.A. sehr anstatten die afrikanische Union Brasilien und die Koalition der kleinen Inselstaden zur Energiewände und einer Internationalen Klamot-Gavernans bekannt. Der chinesische Staatschef Schie, der was selten ist, an dem Treffen teilnahmen, verwies darauf, dass China die inzwischen größte Infrastruktur für erneuerbare Energie entwickelt hat, einschließlich der dazu gehörrenden Liefer. Einst du sie sich dazu gehörenden Lieferketten. Die Teilnehmer starten werden ihre nationalen Reduktionsstrategien rechtzeitig vor der Kopf 30 erstellen. https://www.theguardian.com/environment/2025/apr/23/un-chief-no-group-or-government-can-stop-clean-energy-future

Der neue Planetary Health Check des Potsdam Instituts für Klimafolgenforschung ergibt, dass durch die Versauerung der Ozeane möglicherweise gerade die siebte von 9 planetaren Grenzen durchbrochen wird und die Biosphäre auch hier in eine Hochrisikozone eintritt. Bei allen anderen mit Ausnahme des Ozonschwunds haben sich die Bedingungen verschlechtert. Die CO2- Emissionen treiben die Versauerung an, die wiederum die Fähigkeit der Ozeane mindert, als CO2-Senke zu wirken. https://www.theguardian.com/environment/2024/sep/23/earth-breach-planetary-boundaries-health-check-oceans

Website zum Planetary Health Check: https://www.planetaryhealthcheck.org/

This is the requirement in the Sunshine Act that reports of payments that physicians have recieved will not include the NPI of the Physician.

Yet thou triumph’st, and say'st that thou <br /> Find’st not thy self, nor me the weaker now;

In lines 23 and 24, the listener finally speaks, claiming that by killing the flea, she is not weak. By saying this, she essentially says that there was no harm in killing the flea, as it took both their blood.

https://www.derstandard.at/story/3000000252649/volksbefragung-zu-windraedern-ist-jene-mit-der-bisher-hoechsten-beteiligung-in-kaernten

for - Youtube - book review - Reviewing "The Brain Abstracted - Simplification in the History and Philosophy of Neuroscience" - M. Chirimuuta - Youtube channel: Philosophy of Psychiatric Diagnoses - 2025 Jan 23

for - implications of book "The Brain Abstracted" for neurodiversity - SOURCE - Youtube - book review - Reviewing "The Brain Abstracted - Simplification in the History and Philosophy of Neuroscience" - M. Chirimuuta - Youtube channel: Philosophy of Psychiatric Diagnoses - 2025 Jan 23

https://www.theguardian.com/us-news/2025/jan/23/big-oil-445m-trump-congress

Report: https://climatepower.us/research-polling/big-oil-spent-450-million-to-influence-trump-the-119th-congress/

for - book - Dear Oliver: An Unexpected Friendship with Oliver Sacks - from Psychology Today website - article - What Oliver Sacks Taught Me - Susan R. Barry - 2024 - Jan. 23 - to

to - book - Dear Oliver: An Unexpected Friendship with Oliver Sacks - Susan R. Barry - 2024, Jan 30 - https://hyp.is/6ir6jME9Ee-vLEu_PiRFsw/theexperimentpublishing.com/catalogs/winter-2024/dear-oliver/

for - cliche - the finger pointing to the moon - the finger is not the moon - language is NOT the experience it describes - from Psychology Today website - article - What Oliver Sacks Taught Me - Susan R. Barry - 2024 - Jan. 23

for - association - person with 2D vision - trying to imagine what it's like to see in 3D - What's it like to be a bat? - from Psychology Today website - article - What Oliver Sacks Taught Me - Susan R. Barry - 2024 - Jan. 23 - adjacency - seeing in 2D - then in 3D - Deep Humanity BEing journey - from Psychology Today website - article - What Oliver Sacks Taught Me - Susan R. Barry - 2024 - Jan. 23

for - book - Dear Oliver: An Unexpected Friendship with Oliver Sacks - Susan R. Barry - 2024, Jan 30 - from Psychology Today website - article - What Oliver Sacks Taught Me - Susan R. Barry - 2024 - Jan. 23 - https://hyp.is/qFe6tME9Ee-P-RM7r6muqw/www.psychologytoday.com/za/blog/eyes-on-the-brain/202401/what-oliver-sacks-taught-me

Summarize what this declaration said.

Cite your source(s)!

https://experiments.myhub.ai/ai4communities_post

Matthew Lowry experiment

https://www.knowledgegraph.tech/speakers/denny-vrandecic/

https://ruben.verborgh.org/<br /> Ruben Verborgh

Mentioned by Flancian

https://www.linkedin.com/in/rubenverborgh/<br /> Ruben Verborgh

Denny Vrandečić

Know and Master Your Social Media Data Flow by [[Louis Gray]]

See commentary at https://boffosocko.com/2017/04/11/a-new-way-to-know-and-master-your-social-media-flow/

We have Renaissance humanism from the 1500s. We need to have a dose of Digital humanism in the 2000s.

A Minimum Viable Ecosystem for collective intelligence by [[Mathew Lowry]]

Relation to Louis Gray's 2009 diagram/post: https://boffosocko.com/2017/04/11/a-new-way-to-know-and-master-your-social-media-flow/

Why AI must be decolonized to fulfill its true potential by [[Mahlet Zimeta]], Data and technology policy expert, Freelance

https://en.wikipedia.org/wiki/Data_Transfer_Project

see GitHub repo at https://github.com/google/data-transfer-project

https://tana.inc/docs/supertags

Meet Capacities, the do-it-all productivity app taking on Notion by [[JR Raphael]]

1:23:52 What does Donut Economics look like in Marlborough Neighbourhood?

1:23:30 How can a neighbourhood become a local food PRODUCER evolving into a PROSUMER

1:23:06 How can we get a neighbourhood to operate at full capacity (strengths) while minimising to its collective shadows

1:22:23 How much UNUSED RESOURCES are there in Marlborough Neighbourhood? How more efficaciously can they be used?

DOI: 10.1128/jmbe.00190-23

Resource: RRID:Addgene_129020

Curator: @olekpark

SciCrunch record: RRID:Addgene_129020

What is this?

DOI: 10.1158/1541-7786.MCR-23-0955

Resource: RRID:Addgene_25812

Curator: @olekpark

SciCrunch record: RRID:Addgene_25812

What is this?

DOI: 10.1158/1535-7163.MCT-23-0474

Resource: RRID:Addgene_71728

Curator: @olekpark

SciCrunch record: RRID:Addgene_71728

What is this?

DOI: 10.1158/1535-7163.MCT-23-0162

Resource: RRID:Addgene_48138

Curator: @olekpark

SciCrunch record: RRID:Addgene_48138

What is this?

for - stats - digital decay - 23% of news webpages contain at least one broken link, - stats - digital decay - 21% of webpages from government sites contain at least one broken link

Quotations and Literary Allusions spoken by Willy Wonka in the 1971 film, Willy Wonka and the Chocolate Factory<br /> by Thomas M. Brodhead<br /> https://bmt-systems.com/score/wonka.htm

Archived copy: https://web.archive.org/web/20200111135336/https://bmt-systems.com/score/wonka.htm

DOI: 10.1128/spectrum.00777-23

Resource: RRID:BDSC_15936

Curator: @olekpark

SciCrunch record: RRID:BDSC_15936

What is this?

DOI: 10.1158/1078-0432.CCR-23-3806

Resource: ProteomeXchange (RRID:SCR_004055)

Curator: @evieth

SciCrunch record: RRID:SCR_004055

What is this?

DOI: 10.1158/1078-0432.CCR-23-0433

Resource: (KCLB Cat# 80008, RRID:CVCL_0159)

Curator: @evieth

SciCrunch record: RRID:CVCL_0159

What is this?

DOI: 10.1158/0008-5472.CAN-23-3195

Resource: (Cell Signaling Technology Cat# 4574, RRID:AB_2246903)

Curator: @dhovakimyan1

SciCrunch record: RRID:AB_2246903

What is this?

DOI: 10.18699/VJGB-23-31

Resource: RRID:BDSC_67946

Curator: @olekpark

SciCrunch record: RRID:BDSC_67946

What is this?