De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.

Niehaus AD, Bonner DE, Carter J, Avello K, Jacob N, Neu MB, Mendez R, Qiao W, Scott SA, Levy RJ, Mattas L, Schymick J, Van Andel M, Muntoni F, Mueller J, Sarkozy A, DiTroia S, O'Leary M, Neale A, O'Donnell-Luria A, Toro C, Wolfe LA, Martinez-Agosto JA, Montgomery SB, Wheeler MT, Bernstein JA, Tise CG

Open source

DOI: 10.1002/ajmg.a.70162
Published: 2026 Sep
Container: American journal of medical genetics. Part A
Publisher: Not recorded
Open access: unknown

Credibility signals

limited evidence Score 43/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

cautionDOI registered: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1002/ajmg.a.70162,
  title = {De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.},
  author = {Niehaus AD and Bonner DE and Carter J and Avello K and Jacob N and Neu MB and Mendez R and Qiao W and Scott SA and Levy RJ and Mattas L and Schymick J and Van Andel M and Muntoni F and Mueller J and Sarkozy A and DiTroia S and O'Leary M and Neale A and O'Donnell-Luria A and Toro C and Wolfe LA and Martinez-Agosto JA and Montgomery SB and Wheeler MT and Bernstein JA and Tise CG},
  year = {2026},
  journal = {American journal of medical genetics. Part A},
  doi = {10.1002/ajmg.a.70162},
  url = {https://doi.org/10.1002/ajmg.a.70162}
}

RIS

TY  - JOUR
TI  - De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.
AU  - Niehaus AD
AU  - Bonner DE
AU  - Carter J
AU  - Avello K
AU  - Jacob N
AU  - Neu MB
AU  - Mendez R
AU  - Qiao W
AU  - Scott SA
AU  - Levy RJ
AU  - Mattas L
AU  - Schymick J
AU  - Van Andel M
AU  - Muntoni F
AU  - Mueller J
AU  - Sarkozy A
AU  - DiTroia S
AU  - O'Leary M
AU  - Neale A
AU  - O'Donnell-Luria A
AU  - Toro C
AU  - Wolfe LA
AU  - Martinez-Agosto JA
AU  - Montgomery SB
AU  - Wheeler MT
AU  - Bernstein JA
AU  - Tise CG
PY  - 2026
JO  - American journal of medical genetics. Part A
DO  - 10.1002/ajmg.a.70162
UR  - https://doi.org/10.1002/ajmg.a.70162
ER  -

APA

AD, N., DE, B., J, C., K, A., N, J., MB, N., R, M., W, Q., SA, S., RJ, L., L, M., J, S., M, V. A., F, M., J, M., A, S., S, D., M, O., A, N., A, O., C, T., LA, W., JA, M., SB, M., MT, W., JA, B., & CG, T. (2026). De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.. American journal of medical genetics. Part A. https://doi.org/10.1002/ajmg.a.70162

Source records

pubmed · retrieved 2026-09-25T05:17:19.277Z