Zeynep Coban Akdemir

ScholarGPS® ID: 45523074814118

Affiliation

Baylor College of Medicine, Houston, United States

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Metrics Summary

Publication Count

Predicted Citations

3,252

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data (journal article) Wohler, Elizabeth \| Martin, Renan \| Griffith, Sean \| Rodrigues, Eliete da S. \| Antonescu, Corina \| Posey, Jennifer E. \| Coban-Akdemir, Zeynep \| Jhangiani, Shalini N. \| Doheny, Kimberly F. \| Lupski, James R. \| ... \| Sobreira, Nara Orphanet Journal of Rare Diseases, volume 16, issue 1 (2021). 10.1186/s13023-021-01916-z Cited by (18) \| Cite \| Source
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy (journal article) Calame, Daniel G. \| Bakhtiari, Somayeh \| Logan, Rachel \| Coban-Akdemir, Zeynep \| Du, Haowei \| Mitani, Tadahiro \| Fatih, Jawid M. \| Hunter, Jill V. \| Herman, Isabella \| Pehlivan, Davut \| ... \| Lupski, James R. Genetics in Medicine, volume 23, issue 12, pages 2455-2460 (2021). 10.1038/s41436-021-01291-x Cited by (8) \| Cite \| Source
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome (journal article) Zhang, Chaofan \| Mazzeu, Juliana F. \| Eisfeldt, Jesper \| Grochowski, Christopher M. \| White, Janson \| Akdemir, Zeynep C. \| Jhangiani, Shalini N. \| Muzny, Donna M. \| Gibbs, Richard A. \| Lindstrand, Anna \| ... \| Carvalho, Claudia M. B. American Journal of Medical Genetics Part A, volume 185, issue 12, pages 3593-3600 (2021). 10.1002/ajmg.a.61908 Cited by (17) \| Cite \| Source
Exome variant discrepancies due to reference-genome differences (journal article) Li, He \| Dawood, Moez \| Khayat, Michael M. \| Farek, Jesse R. \| Jhangiani, Shalini N. \| Khan, Ziad M. \| Mitani, Tadahiro \| Coban-Akdemir, Zeynep \| Lupski, James R. \| Venner, Eric \| ... \| Gibbs, Richard A. The American Journal of Human Genetics, volume 108, issue 7, pages 1239-1250 (2021). 10.1016/j.ajhg.2021.05.011 Cited by (31) \| Cite \| Source
A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu ‐mediated rearrangement in an Iraqi family with epileptic encephalopathy (journal article) Duan, Ruizhi \| Saadi, Nebal Waill \| Grochowski, Christopher M. \| Bhadila, Ghalia \| Faridoun, Afnan \| Mitani, Tadahiro \| Du, Haowei \| Fatih, Jawid M. \| Jhangiani, Shalini N. \| Akdemir, Zeynep C. \| ... \| Lupski, James R. American Journal of Medical Genetics Part A, volume 185, issue 7, pages 1972-1980 (2021). 10.1002/ajmg.a.62192 Cited by (14) \| Cite \| Source
Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy (journal article) Calame, Daniel G. \| Fatih, Jawid \| Herman, Isabella \| Akdemir, Zeynep Coban \| Du, Haowei \| Jhangiani, Shalini N. \| Gibbs, Richard A. \| Marafi, Dana \| Pehlivan, Davut \| Posey, Jennifer E. \| ... \| Lupski, James R. Neurology Genetics, volume 7, issue 3 (2021). 10.1212/NXG.0000000000000589 Cited by (7) \| Cite \| Source
Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature (journal article) Contreras, Josefina Longeri \| Ladino, Mabel A. \| Aránguiz, Katherine \| Mendez, Gonzalo P. \| Coban-Akdemir, Zeynep \| Yuan, Bo \| Gibbs, Richard A. \| Burrage, Lindsay C. \| Lupski, James R. \| Chinn, Ivan K. \| ... \| Poli, M. Cecilia Frontiers in Pediatrics, volume 9 (2021). 10.3389/fped.2021.673957 Cited by (15) \| Cite \| Source
Multilocus pathogenic variation in ZC4H2, MUSK, CAPN3, and NAV2 results in a blended phenotype of severe neurodevelopmental disorder with epilepsy, brain malformation, hypotonia, dysmorphism, and musculoskeletal abnormalities (2101) (journal article) Herman, Isabella \| Marafi, Dana \| Abdelsalam, Ghada \| Mitani, Tadahiro \| Calame, Daniel \| Akdemir, Zeynep Coban \| Pehlivan, Davut \| Posey, Jennifer \| Lupski, James Neurology, volume 96, issue 15_supplement (2021). 10.1212/WNL.96.15_supplement.2101 Cite \| Source
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform (journal article) Rickman, Olivia J. \| Salter, Claire G. \| Gunning, Adam C. \| Fasham, James \| Voutsina, Nikol \| Leslie, Joseph S. \| McGavin, Lucy \| Cross, Harold E. \| Posey, Jennifer E. \| Akdemir, Zeynep Coban \| ... \| Crosby, Andrew H. Parkinsonism & Related Disorders, volume 82 (2021). 10.1016/j.parkreldis.2020.10.041 Cited by (8) \| Cite \| Source
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions (journal article) Gambin, Tomasz \| Liu, Qian \| Karolak, Justyna A. \| Grochowski, Christopher M. \| Xie, Nina G. \| Wu, Lucia R. \| Yan, Yan Helen \| Cao, Ye \| Coban Akdemir, Zeynep H. \| Wilson, Theresa A. \| ... \| Stankiewicz, Paweł Genetics in Medicine, volume 22, issue 11, pages 1768-1776 (2020). 10.1038/s41436-020-0897-z Cited by (28) \| Cite \| Source
Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease (journal article) Robak, Laurie A. \| Du, Renqian \| Yuan, Bo \| Gu, Shen \| Alfradique-Dunham, Isabel \| Kondapalli, Vismaya \| Hinojosa, Evelyn \| Stillwell, Amanda \| Young, Emily \| Zhang, Chaofan \| ... \| Shulman, Joshua M. Neurology Genetics, volume 6, issue 5 (2020). 10.1212/NXG.0000000000000498 Cited by (11) \| Cite \| Source
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy (journal article) Saad, Ahmed K \| Marafi, Dana \| Mitani, Tadahiro \| Jolly, Angad \| Du, Haowei \| Elbendary, Hasnaa M \| Jhangiani, Shalini N \| Akdemir, Zeynep C \| Gibbs, Richard A \| Hunter, Jill V \| ... \| Lupski, James R Brain, volume 143, issue 10, pages e83-e83 (2020). 10.1093/brain/awaa256 Cited by (7) \| Cite \| Source
Human NK cell deficiency as a result of biallelic mutations in MCM10 (journal article) Mace, Emily M. \| Paust, Silke \| Conte, Matilde I. \| Baxley, Ryan M. \| Schmit, Megan M. \| Patil, Sagar L. \| Guilz, Nicole C. \| Mukherjee, Malini \| Pezzi, Ashley E. \| Chmielowiec, Jolanta \| ... \| Orange, Jordan S. Journal of Clinical Investigation, volume 130, issue 10, pages 5272-5286 (2020). 10.1172/JCI134966 Cited by (43) \| Cite \| Source
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID (journal article) Kuhny, Marcel \| Forbes, Lisa R. \| Çakan, Elif \| Vega-Loza, Andrea \| Kostiuk, Valentyna \| Dinesh, Ravi K. \| Glauzy, Salomé \| Stray-Pedersen, Asbjorg \| Pezzi, Ashley E. \| Hanson, I. Celine \| ... \| Meffre, Eric Journal of Clinical Investigation (2020). 10.1172/JCI131297 Cited by (10) \| Cite \| Source
Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS) (journal article) Chen, Shan \| Jain, Mahim \| Jhangiani, Shalini \| Akdemir, Zeynep C \| Campeau, Philippe M \| Klein, Robert F \| Nielson, Carrie \| Dai, Hongzheng \| Muzny, Donna M \| Boerwinkle, Eric \| ... \| Lee, Brendan JBMR Plus, volume 4, issue 3 (2020). 10.1002/jbm4.10335 Cited by (1) \| Cite \| Source
Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation (journal article) Burk, Caitlin M. \| Coffey, Kara E. \| Mace, Emily M. \| Bostwick, Bret L. \| Chinn, Ivan K. \| Coban-Akdemir, Zeynep H. \| Jhangiani, Shalini N. \| Lupski, James R. \| Ortiz, Damara \| Barnum, Jessie L. \| ... \| Chong, Hey J. The Journal of Allergy and Clinical Immunology: In Practice, volume 8, issue 3, pages 1103-1106.e3 (2020). 10.1016/j.jaip.2019.08.040 Cited by (7) \| Cite \| Source
Phenotypic expansion of POGZ ‐related intellectual disability syndrome (White‐Sutton syndrome) (journal article) Assia Batzir, Nurit \| Posey, Jennifer E. \| Song, Xiaofei \| Akdemir, Zeynep Coban \| Rosenfeld, Jill A. \| Brown, Chester W. \| Chen, Emily \| Holtrop, Shannon G. \| Mizerik, Elizabeth \| Nieto Moreno, Margarita \| ... \| Sutton, V. Reid American Journal of Medical Genetics Part A, volume 182, issue 1, pages 38-52 (2020). 10.1002/ajmg.a.61380 Cited by (34) \| Cite \| Source
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome (journal article) Carvalho, Claudia M. B. \| Coban-Akdemir, Zeynep \| Hijazi, Hadia \| Yuan, Bo \| Pendleton, Matthew \| Harrington, Eoghan \| Beaulaurier, John \| Juul, Sissel \| Turner, Daniel J. \| Kanchi, Rupa S. \| ... \| Lupski, James R. Genome Medicine, volume 11, issue 1 (2019). 10.1186/s13073-019-0633-y Cited by (19) \| Cite \| Source
GCN5 HAT inhibition reduces human Burkitt lymphoma cell survival through reduction of MYC target gene expression and impeding BCR signaling pathways (journal article) Farria, Aimee T. \| Mustachio, Lisa Maria \| Akdemir, Zeynep H. Coban \| Dent, Sharon Y.R. Oncotarget, volume 10, issue 56, pages 5847-5858 (2019). 10.18632/oncotarget.27226 Cited by (21) \| Cite \| Source
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities (journal article) Karaca, Ender \| Posey, Jennifer E. \| Bostwick, Bret \| Liu, Pengfei \| Gezdirici, Alper \| Yesil, Gozde \| Coban Akdemir, Zeynep \| Bayram, Yavuz \| Harms, Frederike L. \| Meinecke, Peter \| ... \| Lupski, James R. American Journal of Medical Genetics Part A, volume 179, issue 10, pages 2056-2066 (2019). 10.1002/ajmg.a.61315 Cited by (16) \| Cite \| Source