Jill A. Rosenfeld

ScholarGPS® ID: 45205281660892

Affiliation

Baylor College of Medicine, Houston, United States

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Metrics Summary

Publication Count

195

Predicted Citations

11,443

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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Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic–ischemic encephalopathy: A retrospective analysis (journal article) Parobek, Christian M. \| Zemet, Roni \| Shanahan, Matthew A. \| Burnett, Brian A. \| Mizerik, Elizabeth \| Rosenfeld, Jill A. \| Vossaert, Liesbeth \| Clark, Steven L. \| Hunter, Jill V. \| Lalani, Seema R. Clinical Genetics, volume 106, issue 1, pages 95-101 (2024). 10.1111/cge.14522 Cite \| Source
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma (journal article) Kunisetty, Bhavana \| Martin-Giacalone, Bailey A. \| Zhao, Xiaonan \| Luna, Pamela N. \| Brooks, Brian P. \| Hufnagel, Robert B. \| Shaw, Chad A. \| Rosenfeld, Jill A. \| Agopian, A. J. \| Lupo, Philip J. \| Scott, Daryl A. Investigative Opthalmology & Visual Science, volume 65, issue 3, pages 25- (2024). 10.1167/iovs.65.3.25 Cite \| Source
MATR3 pathogenic variants differentially impair its cryptic splicing repression function (journal article) Khan, Mashiat \| Chen, Xiao Xiao Lily \| Dias, Michelle \| Santos, Jhune Rizsan \| Kour, Sukhleen \| You, Justin \| van Bruggen, Rebekah \| Youssef, Mohieldin M. M. \| Wan, Ying‐Wooi \| Liu, Zhandong \| ... \| Park, Jeehye FEBS Letters, volume 598, issue 4, pages 415-436 (2024). 10.1002/1873-3468.14806 Cited by (2) \| Cite \| Source
P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders (journal article) Macakova, Kristina \| Sinson, Jefferson \| Zhao, Sen \| Dai, Hongzheng \| Rosenfeld, Jill \| Zapata, Gladys \| Li, Shenglan \| Ward, Patricia \| Wang, Christiana \| Qu, Chunjing \| ... \| Liu, Pengfei Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101654 Cite \| Source
692 Genetic findings among neonates with perinatal hypoxic-ischemic encephalopathy (journal article) Parobek, Christian M. \| Shanahan, Matthew A. \| Lazar, Roni Zemet \| Burnett, Brian \| Mizerik, Elizabeth \| Rosenfeld, Jill \| Vossaert, Liesbeth \| Clark, Steven \| Hunter, Jill \| Lalani, Seema American Journal of Obstetrics and Gynecology, volume 230, issue 1, pages S371- (2024). 10.1016/j.ajog.2023.11.718 Cite \| Source
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities (journal article) Ward, Scott K. \| Wadley, Alexandrea \| Tsai, Chun‐hui (Anne) \| Benke, Paul J. \| Emrick, Lisa \| Fisher, Kristen \| Houck, Kimberly M. \| Dai, Hongzheng \| Guillen Sacoto, Maria J. \| Craigen, William \| ... \| Rosenfeld, Jill A. American Journal of Medical Genetics Part A, volume 194, issue 1, pages 17-30 (2024). 10.1002/ajmg.a.63399 Cite \| Source
The contribution of mosaicism to genetic diseases and de novo pathogenic variants (journal article) Tinker, Rory J. \| Bastarache, Lisa \| Ezell, Kimberly \| Kobren, Shilpa Nadimpalli \| Esteves, Cecilia \| Rosenfeld, Jill A. \| Macnamara, Ellen F. \| Hamid, Rizwan \| Cogan, Joy D. \| Rinker, David \| ... \| Phillips, John A. American Journal of Medical Genetics Part A, volume 191, issue 10, pages 2482-2492 (2023). 10.1002/ajmg.a.63309 Cited by (3) \| Cite \| Source
Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes (journal article) Yankee, Tara N. \| Oh, Sungryong \| Winchester, Emma Wentworth \| Wilderman, Andrea \| Robinson, Kelsey \| Gordon, Tia \| Rosenfeld, Jill A. \| VanOudenhove, Jennifer \| Scott, Daryl A. \| Leslie, Elizabeth J. \| Cotney, Justin Nature Communications, volume 14, issue 1 (2023). 10.1038/s41467-023-40363-1 Cited by (8) \| Cite \| Source
Dominant Negative Variants in IKZF2 Cause ICHAD Syndrome, a New Disorder Characterized by Immunodysregulation, Craniofacial Anomalies, Hearing Impairment, Athelia, and Developmental Delay (journal article) Vaseghi-Shanjani, Maryam \| Mohajeri, Arezoo \| Rosenfeld, Jill A. \| Lu, Henry \| Sharma, Mehul \| Lalani, Seema \| Nicholas, Sarah \| Scott, Daryl A. \| Turvey, Stuart \| Lehman, Anna Clinical Immunology, volume 250 (2023). 10.1016/j.clim.2023.109546 Cited by (1) \| Cite \| Source
Expansion of the clinical and molecular spectrum of WWOX ‐related epileptic encephalopathy (journal article) Chong, Shuk Ching \| Cao, Ye \| Fung, Eva L. W. \| Kleppe, Soledad \| Gripp, Karen W. \| Hertecant, Jozef \| El‐Hattab, Ayman W. \| Suleiman, Jehan \| Clark, Gary \| von Allmen, Gretchen \| ... \| Scaglia, Fernando American Journal of Medical Genetics Part A, volume 191, issue 3, pages 776-785 (2023). 10.1002/ajmg.a.63074 Cited by (3) \| Cite \| Source
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations (journal article) Belanger Deloge, Raymond \| Zhao, Xiaonan \| Luna, Pamela N. \| Shaw, Chad A. \| Rosenfeld, Jill A. \| Scott, Daryl A. European Journal of Human Genetics, volume 31, issue 3, pages 296-303 (2023). 10.1038/s41431-022-01255-y Cited by (5) \| Cite \| Source
P348: De novo missense variants in ZBTB47 cause a neurodevelopmental phenotype of developmental delays, seizures, and possible movement abnormalities (journal article) Ward, Scott \| Burrage, Lindsay \| Rosenfeld, Jill \| Bacino, Carlos \| Lee, Brendan \| Craigen, William \| Emrick, Lisa \| Fisher, Kristen \| Wadley, Alexandrea \| Tsai, Chun-Hui \| ... \| Houck, Kimberly Genetics in Medicine Open, volume 1, issue 1, pages 100376- (2023). 10.1016/j.gimo.2023.100376 Cite \| Source
P130: Case report: Phenotypic features among four first-degree relatives with 17q11.2 microduplication syndrome (journal article) Bradley, Catherine \| Streff, Haley \| Bi, Weimin \| Smith, Janice \| Rosenfeld, Jill \| Marom, Ronit Genetics in Medicine Open, volume 1, issue 1, pages 100159- (2023). 10.1016/j.gimo.2023.100159 Cite \| Source
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy (journal article) do Rosario, Michelle C \| Bey, Guillermo Rodriguez \| Nmezi, Bruce \| Liu, Fang \| Oranburg, Talia \| Cohen, Ana S A \| Coffman, Keith A \| Brown, Maya R \| Kiselyov, Kirill \| Waisfisz, Quinten \| ... \| Shukla, Anju Brain, volume 145, issue 12, pages 4202-4209 (2022). 10.1093/brain/awac295 Cited by (5) \| Cite \| Source
Loss of WNT4 in the gubernaculum causes unilateral cryptorchidism and fertility defects (journal article) Seth, Abhishek \| Bournat, Juan C. \| Medina-Martinez, Olga \| Rivera, Armando \| Moore, Joshua \| Flores, Hunter \| Rosenfeld, Jill A. \| Hu, Liya \| Jorgez, Carolina J. Development, volume 149, issue 23 (2022). 10.1242/dev.201093 Cited by (2) \| Cite \| Source
A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay (journal article) Dai, Hongzheng \| Zhu, Wenmiao \| Yuan, Bo \| Walley, Nicole \| Schoch, Kelly \| Jiang, Yong‐Hui \| Phillips, John A. \| Jones, Melissa S. \| Liu, Pengfei \| Murdock, David R. \| ... \| Xiao, Rui Human Mutation, volume 43, issue 12, pages 1816-1823 (2022). 10.1002/humu.24497 Cited by (1) \| Cite \| Source
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy‐Associated Genes (journal article) Yang, Qixin \| Berkman, Amy M. \| Ezekian, Jordan E. \| Rosamilia, Michael \| Rosenfeld, Jill A. \| Liu, Pengfei \| Landstrom, Andrew P. Journal of the American Heart Association, volume 11, issue 19 (2022). 10.1161/JAHA.122.025257 Cited by (4) \| Cite \| Source
Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes (journal article) Button, Emily L. \| Rossi, Joseph J. \| McDougal, Daniel P. \| Bruning, John B. \| Peet, Daniel J. \| Bersten, David C. \| Rosenfeld, Jill A. \| Whitelaw, Murray L. Biochemical Journal, volume 479, issue 13, pages 1441-1454 (2022). 10.1042/BCJ20220209 Cited by (1) \| Cite \| Source
A novel, de novo intronic variant in POGZ causes White–Sutton syndrome (journal article) Merriweather, Ashanta \| Murdock, David R. \| Rosenfeld, Jill A. \| Dai, Hongzheng \| Ketkar, Shamika \| Emrick, Lisa \| Nicholas, Sarah \| Lewis, Richard A. \| Bacino, Carlos A. \| Scott, Daryl A. \| ... \| Burrage, Lindsay C. American Journal of Medical Genetics Part A, volume 188, issue 7, pages 2198-2203 (2022). 10.1002/ajmg.a.62747 Cited by (3) \| Cite \| Source
Front Cover, Volume 43, Issue 7 (journal article) Sharma, Saloni \| Hourigan, Brenna \| Patel, Zain \| Rosenfeld, Jill A. \| Chan, Katie M. \| Wangler, Michael F. \| Yi, Joanna S. \| Lehman, Anna \| Horvath, Gabriella \| Cloos, Paul A. \| Tan, Qiumin Human Mutation, volume 43, issue 7 (2022). 10.1002/humu.24419 Cite \| Source