<scp> <i>De Novo</i> </scp> Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a <scp>CGR</scp> Detection Pipeline

Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho

Open source

DOI: 10.1002/ajmg.a.70153
Published: 2026-04-07
Container: American Journal of Medical Genetics Part A
Publisher: Wiley
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1002/ajmg.a.70153,
  title = {<scp>
                      <i>De Novo</i>
                    </scp>
                    Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a
                    <scp>CGR</scp>
                    Detection Pipeline},
  author = {Katherine Helle and Jesse D. Bengtsson and Mira Gandhi and Christopher M. Grochowski and Ming Yin Lun and Neha Sudhir and Shalini N. Jhangiani and Fritz J. Sedlazeck and Seema R. Lalani and Neil A. Hanchard and Claudia M. B. Carvalho},
  year = {2026},
  journal = {American Journal of Medical Genetics Part A},
  doi = {10.1002/ajmg.a.70153},
  url = {https://doi.org/10.1002/ajmg.a.70153}
}

RIS

TY  - JOUR
TI  - <scp>
                      <i>De Novo</i>
                    </scp>
                    Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a
                    <scp>CGR</scp>
                    Detection Pipeline
AU  - Katherine Helle
AU  - Jesse D. Bengtsson
AU  - Mira Gandhi
AU  - Christopher M. Grochowski
AU  - Ming Yin Lun
AU  - Neha Sudhir
AU  - Shalini N. Jhangiani
AU  - Fritz J. Sedlazeck
AU  - Seema R. Lalani
AU  - Neil A. Hanchard
AU  - Claudia M. B. Carvalho
PY  - 2026
JO  - American Journal of Medical Genetics Part A
DO  - 10.1002/ajmg.a.70153
UR  - https://doi.org/10.1002/ajmg.a.70153
ER  -

APA

Helle, K., Bengtsson, J. D., Gandhi, M., Grochowski, C. M., Lun, M. Y., Sudhir, N., Jhangiani, S. N., Sedlazeck, F. J., Lalani, S. R., Hanchard, N. A., & Carvalho, C. M. B. (2026). <scp> <i>De Novo</i> </scp> Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a <scp>CGR</scp> Detection Pipeline. American Journal of Medical Genetics Part A. https://doi.org/10.1002/ajmg.a.70153

Source records

crossref · retrieved 2026-09-25T21:11:52.327Z