Research output per year
Research output per year
- 1 - 50 out of 120 results
Search results
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2023
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
Ben-Mahmoud, A., Kishikawa, S., Gupta, V., Leach, N. T., Shen, Y., Moldovan, O., Goel, H., Hopper, B., Ranguin, K., Gruchy, N., Maas, S. M., Lacassie, Y., Kim, S. H., Kim, W. Y., Quade, B. J., Morton, C. C., Kim, C. H., Layman, L. C. & Kim, H. G., Dec 2023, In: Scientific reports. 13, 1, 12984.Research output: Contribution to journal › Article › peer-review
Open Access -
Adolescent With Concomitant Transverse and Longitudinal Vaginal Septa
Perry, K., King, S. A., Callaway, C., Gavrilova-Jordan, L., Layman, L. & Donohoe, J., Apr 2023, In: Urology. 174, p. 168-171 4 p.Research output: Contribution to journal › Article › peer-review
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Changes in adenomyosis following elagolix vs leuprolide treatment in a patient with pelvic pain and infertility: A case report
Barseghyan, M., Theisen, J. G., Wang, C. & Gavrilova-Jordan, L., Mar 2023, In: Case Reports in Women's Health. 37, e00484.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing
Sahajpal, N. S., Mondal, A. K., Fee, T., Hilton, B., Layman, L., Hastie, A. R., Chaubey, A., DuPont, B. R. & Kolhe, R., Apr 2023, In: The Journal of Molecular Diagnostics.Research output: Contribution to journal › Article › peer-review
6 Scopus citations -
Coordination of canonical and noncanonical Hedgehog signalling pathways mediated by WDR11 during primordial germ cell development
Lee, J., Kim, Y., Ataliotis, P., Kim, H. G., Kim, D. W., Bennett, D. C., Brown, N. A., Layman, L. C. & Kim, S. H., Dec 2023, In: Scientific reports. 13, 1, 12309.Research output: Contribution to journal › Article › peer-review
Open Access -
Endogenous estradiol contributes to vascular endothelial dysfunction in premenopausal women with type 1 diabetes
Simon, A. B., Derella, C. C., Blackburn, M., Thomas, J., Layman, L. C., Nicholson, M. S., Waller, J., Elmarakby, A., Saad, K. M. & Harris, R. A., Dec 2023, In: Cardiovascular Diabetology. 22, 1, 243.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing
Gupta, V., Ben-Mahmoud, A., Ku, B., Velayutham, D., Jan, Z., Yousef Aden, A., Kubbar, A., Alshaban, F., Stanton, L. W., Jithesh, P. V., Layman, L. C. & Kim, H. G., 2023, In: Frontiers in Psychiatry. 14, 1251884.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Initial presentation of granulomatosis with polyangiitis as urethral mass mimicking urethral cancer: A case report
Mohanty, N., San, T., Bell, S., Jalla, R., Williams, J., Fordjour, I., Siddiquee, N., Gavrilova-Jordan, L., Carbone, L. & Elam, R., Mar 2023, In: Case Reports in Women's Health. 37, e00498.Research output: Contribution to journal › Article › peer-review
Open Access -
Investigation of subfertility in the female Nsmf knockout mouse
Louden, E. D., Dougherty, M. P., Chorich, L. P., Eroglu, A. & Layman, L. C., Nov 2023, In: F and S Science. 4, 4, p. 286-293 8 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping
Brakta, S., Hawkins, Z. A., Sahajpal, N., Seman, N., Kira, D., Chorich, L. P., Kim, H. G., Xu, H., Phillips, J. A., Kolhe, R. & Layman, L. C., Apr 2023, In: Human Genetics. 142, 4, p. 483-494 12 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
2022
A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders
Ben-Mahmoud, A., Jun, K. R., Gupta, V., Shastri, P., de la Fuente, A., Park, Y., Shin, K. C., Kim, C. A., da Cruz, A. D., Pinto, I. P., Minasi, L. B., Silva da Cruz, A., Faivre, L., Callier, P., Racine, C., Layman, L. C., Kong, I. K., Kim, C. H., Kim, W. Y. & Kim, H. G., Oct 6 2022, In: Frontiers in Molecular Neuroscience. 15, 979061.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function
Lin, S. J., Vona, B., Porter, H. M., Izadi, M., Huang, K., Lacassie, Y., Rosenfeld, J. A., Khan, S., Petree, C., Ali, T. A., Muhammad, N., Khan, S. A., Muhammad, N., Liu, P., Haymon, M. L., Rüschendorf, F., Kong, I. K., Schnapp, L., Shur, N., Chorich, L., & 5 others, Oct 2022, In: Human Mutation. 43, 10, p. 1472-1489 18 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Optical Genome Mapping and Single Nucleotide Polymorphism Microarray: An Integrated Approach for Investigating Products of Conception
Sahajpal, N. S., Mondal, A. K., Ananth, S., Pundkar, C., Jones, K., Williams, C., Fee, T., Weissman, A., Tripodi, G., Oza, E., Gavrilova-Jordan, L., Omar, N., Hastie, A. R., Dupont, B. R., Layman, L., Chaubey, A. & Kolhe, R., Apr 2022, In: Genes. 13, 4, 643.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Perplexing findings during laparoscopic evaluation for tubal factor infertility resulting from a gastric leak after bariatric surgery: A case report
Poch, A. M., Dougherty, M., Roman, R. A. & Gavrilova-Jordan, L., Oct 2022, In: Case Reports in Women's Health. 36, e00460.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
2021
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome
Mikhael, S., Dugar, S., Morton, M., Chorich, L. P., Tam, K. B., Lossie, A. C., Kim, H. G., Knight, J., Taylor, H. S., Mukherjee, S., Capra, J. A., Phillips, J. A., Friez, M. & Layman, L. C., Apr 2021, In: Human Genetics. 140, 4, p. 667-680 14 p.Research output: Contribution to journal › Article › peer-review
Open Access15 Scopus citations -
Genetics of hypogonadotropic Hypogonadism—Human and mouse genes, inheritance, oligogenicity, and genetic counseling
Louden, E. D., Poch, A., Kim, H. G., Ben-Mahmoud, A., Kim, S. H. & Layman, L. C., Aug 20 2021, In: Molecular and Cellular Endocrinology. 534, 111334.Research output: Contribution to journal › Article › peer-review
Open Access12 Scopus citations -
Outcomes of women treated with progestin and metformin for atypical endometrial hyperplasia and early endometrial cancer: a systematic review and meta-analysis
Chae-Kim, J., Garg, G., Gavrilova-Jordan, L., Blake, L. E., Kim, T., Wu, Q. & Hayslip, C. C., Dec 2021, In: International Journal of Gynecological Cancer. 31, 12, p. 1499-1505 7 p.Research output: Contribution to journal › Article › peer-review
Open Access22 Scopus citations -
Regional disparities in access to assisted reproductive technology: assessment of patient satisfaction when employing modern technology to close the gap
Mikhael, S., Gaidis, A. & Gavrilova-Jordan, L., Apr 2021, In: Journal of Assisted Reproduction and Genetics. 38, 4, p. 889-894 6 p.Research output: Contribution to journal › Article › peer-review
Open Access10 Scopus citations -
Severe late-onset ovarian hyperstimulation syndrome presenting with liver dysfunction after in vitro fertilization: A case report
Chae-Kim, J. J., Roman, R., Hawkins, K. & Gavrilova-Jordan, L., Jul 2021, In: Case Reports in Women's Health. 31, e00332.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome
Castro, M. A. A., dos Santos, J. H. V., Honjo, R. S., Yamamoto, G. L., Bertola, D. R., Hurst, A. C., Chorich, L. P., Layman, L. C., Kim, C. A. & Kim, H. G., Dec 2021, In: American Journal of Medical Genetics, Part A. 185, 12, p. 3916-3923 8 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
2020
Academic pursuits in board-certified reproductive endocrinologists
Layman, L. C., Feinberg, E. C., Hurst, B. S., Morin, S. J., Morris, J. L., Pisarska, M. D., Smith, Y. R. & Price, T. M., Mar 2020, In: Fertility and sterility. 113, 3, p. 653-660.e1Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
A presentation of ovarian fibrothecoma in a middle-aged female with recurrent massive ascites and postmenopausal bleeding: A case report
Elsharoud, A., Brakta, S., Elhusseini, H. & Al-Hendy, A., 2020, In: SAGE Open Medical Case Reports. 8Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Comparative genomic mapping implicates LRRK2 for intellectual disability and autism at 12q12, and HDHD1, as well as PNPLA4, for X-linked intellectual disability at Xp22.31
Labonne, J. D. J., Driessen, T. M., Harris, M. E., Kong, I. K., Brakta, S., Theisen, J., Sangare, M., Layman, L. C., Kim, C. H., Lim, J. & Kim, H. G., Jan 2020, In: Journal of Clinical Medicine. 9, 1, 274.Research output: Contribution to journal › Article › peer-review
Open Access12 Scopus citations -
Genetic spectrum of syndromic and non-syndromic hearing loss in Pakistani families
Doll, J., Vona, B., Schnapp, L., Rüschendorf, F., Khan, I., Khan, S., Muhammad, N., Khan, S. A., Nawaz, H., Khan, A., Ahmad, N., Kolb, S. M., Kühlewein, L., Labonne, J. D. J., Layman, L. C., Hofrichter, M. A. H., Röder, T., Dittrich, M., Müller, T., Graves, T. D., & 4 others, Nov 2020, In: Genes. 11, 11, p. 1-16 16 p., 1329.Research output: Contribution to journal › Article › peer-review
Open Access9 Scopus citations -
Intraovarian injection of autologous human mesenchymal stem cells increases estrogen production and reduces menopausal symptoms in women with premature ovarian failure: Two case reports and a review of the literature
Igboeli, P., El Andaloussi, A., Sheikh, U., Takala, H., Elsharoud, A., McHugh, A., Gavrilova-Jordan, L., Levy, S. & Al-Hendy, A., Jul 18 2020, In: Journal of Medical Case Reports. 14, 1, 108.Research output: Contribution to journal › Article › peer-review
Open Access47 Scopus citations -
Long-term follow-up and treatment of a female with complete estrogen insensitivity
Brakta, S., Chorich, L. P., Kimt, H. G., Coons, L. A., Katzenellenbogen, J. A., Hall, J. E., Korach, K. S. & Layman, L. C., May 1 2020, In: Journal of Clinical Endocrinology and Metabolism. 105, 5, dgaa106.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
2019
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism
Kim, H. G., Rosenfeld, J. A., Scott, D. A., Bénédicte, G., Labonne, J. D., Brown, J., McGuire, M., Mahida, S., Naidu, S., Gutierrez, J., Lesca, G., Des Portes, V., Bruel, A. L., Sorlin, A., Xia, F., Capri, Y., Muller, E., McKnight, D., Torti, E., Rüschendorf, F., & 8 others, Oct 22 2019, In: Molecular Autism. 10, 1, 35.Research output: Contribution to journal › Article › peer-review
Open Access29 Scopus citations -
Minimal difference in phenotype between adolescents and young adults with polycystic ovary syndrome
Zore, T., Lizneva, D., Brakta, S., Walker, W., Suturina, L. & Azziz, R., Feb 2019, In: Fertility and sterility. 111, 2, p. 389-396 8 p.Research output: Contribution to journal › Article › peer-review
Open Access19 Scopus citations -
The Accuracy of Portable Ultrasound Bladder Scanner Measurements of Postvoid Residual Volume in Women with Pelvic Organ Prolapse
Theisen, J. G., Deveneau, N. E., Agrawal, A., Kinman, C., Gaskins, J., Meriwether, K. & Francis, S. L., Sep 1 2019, In: Female Pelvic Medicine and Reconstructive Surgery. 25, 5, p. 388-391 4 p.Research output: Contribution to journal › Article › peer-review
Open Access10 Scopus citations -
The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants
Theisen, J. G., Sundaram, V., Filchak, M. S., Chorich, L. P., Sullivan, M. E., Knight, J., Kim, H. G. & Layman, L. C., Dec 1 2019, In: Scientific reports. 9, 1, 20099.Research output: Contribution to journal › Article › peer-review
Open Access20 Scopus citations -
Umbilical cord blood mesenchymal stem cells as an infertility treatment for chemotherapy induced premature ovarian insufficiency
Mohamed, S. A., Shalaby, S., Brakta, S., Elam, L., Elsharoud, A. & Al-Hendy, A., Mar 1 2019, In: Biomedicines. 7, 1, 7.Research output: Contribution to journal › Article › peer-review
Open Access43 Scopus citations -
2018
Chd7 Is Critical for Early T-Cell Development and Thymus Organogenesis in Zebrafish
Liu, Z. Z., Wang, Z. L., Choi, T. I., Huang, W. T., Wang, H. T., Han, Y. Y., Zhu, L. Y., Kim, H. T., Choi, J. H., Lee, J. S., Kim, H. G., Zhao, J., Chen, Y., Lu, Z., Tian, X. L., Pan, B. X., Li, B. M., Kim, C. H. & Xu, H. A., Apr 2018, In: American Journal of Pathology. 188, 4, p. 1043-1058 16 p.Research output: Contribution to journal › Article › peer-review
Open Access26 Scopus citations -
Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia
Demir Eksi, D., Shen, Y., Erman, M., Chorich, L. P., Sullivan, M. E., Bilekdemir, M., Yllmaz, E., Luleci, G., Kim, H. G., Alper, O. M. & Layman, L. C., Feb 3 2018, In: Molecular Cytogenetics. 11, 1, 13.Research output: Contribution to journal › Article › peer-review
Open Access8 Scopus citations -
Human Mesenchymal Stem Cells Partially Reverse Infertility in Chemotherapy-Induced Ovarian Failure
Mohamed, S. A., Shalaby, S. M., Abdelaziz, M., Brakta, S., Hill, W. D., Ismail, N. & Al-Hendy, A., Jan 1 2018, In: Reproductive Sciences. 25, 1, p. 51-63 13 p.Research output: Contribution to journal › Article › peer-review
Open Access89 Scopus citations -
JAK/STAT signaling pathway gene expression is reduced following Nelf knockdown in GnRH neurons
Ko, E. K., Chorich, L. P., Sullivan, M. E., Cameron, R. S. & Layman, L. C., Jul 15 2018, In: Molecular and Cellular Endocrinology. 470, p. 151-159 9 p.Research output: Contribution to journal › Article › peer-review
7 Scopus citations -
Targeted knockout of a chemokine-like gene increases anxiety and fear responses
Choi, J. H., Jeong, Y. M., Kim, S., Lee, B., Ariyasiri, K., Kim, H. T., Jung, S. H., Hwang, K. S., Choi, T. I., Park, C. O., Huh, W. K., Carl, M., Rosenfeld, J. A., Raskin, S., Ma, A., Gecz, J., Kim, H. G., Kim, J. S., Shin, H. C., Park, D. S., & 7 others, Jan 30 2018, In: Proceedings of the National Academy of Sciences of the United States of America. 115, 5, p. E1041-E1050Research output: Contribution to journal › Article › peer-review
Open Access36 Scopus citations -
The ontogeny of myometrial stem cells in OCT4-GFP transgenic mouse model
Brakta, S., Mas, A. & Al-Hendy, A., Nov 29 2018, In: Stem Cell Research and Therapy. 9, 1, 333.Research output: Contribution to journal › Article › peer-review
Open Access6 Scopus citations -
Transcriptome Analysis Revealed Impaired cAMP Responsiveness in PHF21A-Deficient Human Cells
Porter, R. S., Murata-Nakamura, Y., Nagasu, H., Kim, H. G. & Iwase, S., Feb 1 2018, In: Neuroscience. 370, p. 170-180 11 p.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations -
WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome
Kim, Y. J., Osborn, D. P. S., Lee, J. Y., Araki, M., Araki, K., Mohun, T., Känsäkoski, J., Brandstack, N., Kim, H. T., Miralles, F., Kim, C. H., Brown, N. A., Kim, H. G., Martinez-Barbera, J. P., Ataliotis, P., Raivio, T., Layman, L. C. & Kim, S. H., Feb 2018, In: EMBO Reports. 19, 2, p. 269-289 21 p.Research output: Contribution to journal › Article › peer-review
Open Access41 Scopus citations -
2017
A decade of pelvic pain and infertility: A case report of an unexpected intraoperative discovery
Stephens, A., Gavrilova-Jordan, L. P. & Ray, C., Apr 1 2017, In: Journal of Endometriosis and Pelvic Pain Disorders. 9, 2, p. 132-134 3 p.Research output: Contribution to journal › Article › peer-review
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A modern radiologic treatment for pelvic congestion syndrome associated with chronic pelvic pain and menstrual abnormalities
Kanter, J. R., Looney, C. B., Lue, J. & Gavrilova-Jordan, L. P., Oct 1 2017, In: Journal of Endometriosis and Pelvic Pain Disorders. 9, 4, p. 297-300 4 p.Research output: Contribution to journal › Article › peer-review
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Berberine regulates the protein expression of multiple tumorigenesis-related genes in hepatocellular carcinoma cell lines
Chuang, T. Y., Wu, H. L., Min, J., Diamond, M. P., Azziz, R. & Chen, Y-H., May 30 2017, In: Cancer Cell International. 17, 1, 59.Research output: Contribution to journal › Article › peer-review
Open Access24 Scopus citations -
Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families
Williams, L. S., Demir Eksi, D., Shen, Y., Lossie, A. C., Chorich, L. P., Sullivan, M. E., Phillips, J. A., Erman, M., Kim, H. G., Alper, O. M. & Layman, L. C., Jul 2017, In: Fertility and sterility. 108, 1, p. 145-151.e2Research output: Contribution to journal › Article › peer-review
Open Access33 Scopus citations -
Mind bomb-binding partner RanBP9 plays a contributory role in retinal development
Yoo, K. W., Thiruvarangan, M., Jeong, Y. M., Lee, M. S., Maddirevula, S., Rhee, M., Bae, Y. K., Kim, H. G. & Kim, C. H., Apr 1 2017, In: Molecules and Cells. 40, 4, p. 271-279 9 p.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations -
2016
A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3
Williams, L. S., Kim, H. G., Kalscheuer, V. M., Tuck, J. M., Chorich, L. P., Sullivan, M. E., Falkenstrom, A., Reindollar, R. H. & Layman, L. C., Jul 30 2016, In: Molecular Cytogenetics. 9, 1, 57.Research output: Contribution to journal › Article › peer-review
Open Access8 Scopus citations -
A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies
Labonne, J. D. J., Graves, T. D., Shen, Y., Jones, J. R., Kong, I. K., Layman, L. C. & Kim, H. G., Aug 9 2016, In: BMC Neurology. 16, 1, 132.Research output: Contribution to journal › Article › peer-review
Open Access21 Scopus citations -
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability
Labonne, J. D. J., Lee, K. H., Iwase, S., Kong, I. K., Diamond, M. P., Layman, L. C., Kim, C. H. & Kim, H. G., Jul 1 2016, In: Human Genetics. 135, 7, p. 757-771 15 p.Research output: Contribution to journal › Article › peer-review
47 Scopus citations -
Berberine Inhibits Uterine Leiomyoma Cell Proliferation via Downregulation of Cyclooxygenase 2 and Pituitary Tumor-Transforming Gene 1
Chuang, T. Y., Min, J., Wu, H. L., McCrary, C., Layman, L. C., Diamond, M. P., Azziz, R., Al-Hendy, A. & Chen, Y. H., Oct 30 2016, In: Reproductive Sciences. 24, 7, p. 1005-1013 9 p.Research output: Contribution to journal › Article › peer-review
6 Scopus citations -
Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability
Labonne, J. D. J., Shen, Y., Kong, I. K., Diamond, M. P., Layman, L. C. & Kim, H. G., Mar 17 2016, In: Molecular Cytogenetics. 9, 1, 234.Research output: Contribution to journal › Article › peer-review
Open Access16 Scopus citations -
Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome
Labonne, J. D. J., Chung, M. J., Jones, J. R., Anand, P., Wenzel, W., Iacoboni, D., Layman, L. C. & Kim, H. G., Jan 1 2016, In: Gene. 575, 1, p. 42-47 6 p.Research output: Contribution to journal › Article › peer-review
8 Scopus citations