Research frontier: what the collected sources say

_Auto-generated summary of 44 insights in the “Research frontier” cluster. Rebuilt on every analysis run; every claim links back to its source._

• New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o… - A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data, we delineated for the first time the smallest MOR, including only the BDH1 gene, and compared the phenotypes of carriers of reciprocal m”
• New observation reported: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st… - A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with neurodevelopme”
• New observation reported: Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e… - A source describes a new or expanded observation: “Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and multiple affected relatives), then consider referral pathways that support gene discovery efforts (see Tip #9).”
• New observation reported: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G… - A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
• New observation reported: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t… - A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
• New observation reported: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: … - A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
• New observation reported: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation… - A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype associations, advancing molecular characterization and NDD genetic diagnoses.”
• New observation reported: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma… - A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of them are novel.”
• New observation reported: We also found that most of the genes with the highest number of significant gene-phenotype associations were c… - A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B), although some of the novel validated genes such as COPS8 were also associated with a high number of statistically significant gene-phenotype ”
• New observation reported: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene… - A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
• New observation reported: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage… - A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
• New observation reported: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty… - A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
• New observation reported: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri… - A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and compare them to patients with negative results searching for the most discriminative features.”
• Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp… - A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the proportion of inherited versus de novo pathogenic variants ( p = 0.198).”

Insight mix

• Phenotype expansion: 38
• Frequency / statistic: 4
• Contradicting evidence: 2

Latest evidence in the collected corpus

New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data, we delineated for the first time the smallest MOR, including only the BDH1 gene, and compared the phenotypes of carriers of reciprocal m”

“Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data, we delineated for the first time the smallest MOR, including only the BDH1 gene, and compared…”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with neurodevelopme”

“Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult…”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e…
A source describes a new or expanded observation: “Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and multiple affected relatives), then consider referral pathways that support gene discovery efforts (see Tip #9).”

“Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and multiple affected relatives), then consider referral pathways that support gene discovery…”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”

“One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”

“Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”

“TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

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This entry is version 13. The analytical engine only appends the clearly-labelled “Latest evidence” section; the text above is curated and is not rewritten by the machine. Confidence 97% · last updated 2026-11-14 16:44