Identification of rare genetic variants in the PCDH genetic family in a cohort of transgender women

Authors: Theisen, John G., Chorich, Lynn P., Xu, Hongyan, Knight, James, Kim, Hyung-Goo, Layman, Lawrence C.

Source: In F&S Science August 2024 5(3):283-292

Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome

Authors: Brakta, Soumia, Du, Quansheng, Chorich, Lynn P., Hawkins, Zoe A., Sullivan, Megan E., Ko, Eun Kyung, Kim, Hyung-Goo, Knight, James, Taylor, Hugh S., Friez, Michael, Phillips, John A., III, Layman, Lawrence C.

Source: In Molecular and Cellular Endocrinology 1 August 2024 589

Investigation of subfertility in the female Nsmf knockout mouse

Authors: Louden, Erica D., Dougherty, Michael P., Chorich, Lynn P., Eroglu, Ali, Layman, Lawrence C.

Source: In F&S Science November 2023 4(4):286-293

Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome

Authors: Castro, Matheus Augusto Araújo, Santos, Juliana Heather Vedovato, Honjo, Rachel Sayuri, Yamamoto, Guilherme Lopes, Bertola, Débora Romeo, Hurst, Anna C., Chorich, Lynn P., Layman, Lawrence C., Kim, Chong Ae, Kim, Hyung‐Goo

Source: American journal of medical genetics.Part A. 185(12):3916-3923

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100134459911.0x000001&indx=1&recIds=ETOCvdc_100134459911.0x000001

Long-Term Follow-Up and Treatment of a Female With Complete Estrogen Insensitivity

Authors: Brakta, Soumia, Chorich, Lynn P, Kim, Hyung-Goo, Coons, Laurel A, Katzenellenbogen, John A, Hall, Janet E, Korach, Kenneth S, Layman, Lawrence C

Source: Journal of clinical endocrinology & metabolism. 105(5):1478-1488

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100115222843.0x000001&indx=1&recIds=ETOCvdc_100115222843.0x000001

JAK/STAT signaling pathway gene expression is reduced following Nelf knockdown in GnRH neurons

Authors: Ko, Eun Kyung, Chorich, Lynn P., Sullivan, Megan E., Cameron, Richard S., Layman, Lawrence C.

Source: In Molecular and Cellular Endocrinology 15 July 2018 470:151-159

Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families

Authors: Williams, Lacey S., Demir Eksi, Durkadin, Shen, Yiping, Lossie, Amy C., Chorich, Lynn P., Sullivan, Megan E., Phillips, John A., III, Erman, Munire, Kim, Hyung-Goo, Alper, Ozgul M., Layman, Lawrence C.

Source: In Fertility and Sterility July 2017 108(1):145-151

Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome

Authors: Quaynor, Samuel D., Bosley, Maggie E., Duckworth, Christina G., Porter, Kelsey R., Kim, Soo-Hyun, Kim, Hyung-Goo, Chorich, Lynn P., Sullivan, Megan E., Choi, Jeong-Hyeon, Cameron, Richard S., Layman, Lawrence C.

Source: In Molecular and Cellular Endocrinology 5 December 2016 437:86-96

NELF knockout is associated with impaired pubertal development and subfertility

Authors: Quaynor, Samuel D., Ko, Eun Kyung, Chorich, Lynn P., Sullivan, Megan E., Demir, Durkadin, Waller, Jennifer L., Kim, Hyung-Goo, Cameron, Richard S., Layman, Lawrence C. ^*

Source: In Molecular and Cellular Endocrinology 15 May 2015 407:26-36

Differential expression of nasal embryonic LHRH factor (NELF) variants in immortalized GnRH neuronal cell lines

Authors: Quaynor, Samuel D., Goldberg, Lindsey Y., Ko, Eun Kyung, Stanley, Robert K., Demir, Durkadin, Kim, Hyung-Goo, Chorich, Lynn P., Cameron, Richard S., Layman, Lawrence C.

Source: In Molecular and Cellular Endocrinology 5 March 2014 383(1-2):32-37

Identification of HESX1 mutations in Kallmann syndrome

Authors: Newbern, Kayce, Natrajan, Nithya, Kim, Hyung-Goo, Chorich, Lynn P., Halvorson, Lisa M., Cameron, Richard S., Layman, Lawrence C.

Source: In Fertility and Sterility June 2013 99(7):1831-1837

Investigation of subfertility in the female Nsmfknockout mouse

Authors: Louden, Erica D., Dougherty, Michael P., Chorich, Lynn P., Eroglu, Ali, Layman, Lawrence C.

Source: F&S Science; November 2023, Vol. 4 Issue: 4 p286-293, 8p

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

Authors: Quaynor, Samuel D., Kim, Hyung-Goo, Cappello, Elizabeth M., Williams, Tiera, Chorich, Lynn P., Bick, David P., Sherins, Richard J., Layman, Lawrence C.

Source: In Fertility and Sterility 2011 96(6):1424-1430

Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

Authors: Xu, Ning, Kim, Hyung-Goo, Bhagavath, Balasubramanian, Cho, Sung-Gyu, Lee, Jae Ho, Ha, Kyungsoo, Meliciani, Irene, Wenzel, Wolfgang, Podolsky, Robert H., Chorich, Lynn P., Stackhouse, Kathryn A., Grove, Anna M.H., Odom, Lawrence N., Ozata, Metin, Bick, David P., Sherins, Richard J., Kim, Soo-Hyun, Cameron, Richard S., Layman, Lawrence C.

Source: In Fertility and Sterility 2011 95(5):1613-1620

The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants

Authors: Theisen, J. Graham, Sundaram, Viji, Filchak, Mary S., Chorich, Lynn P., Sullivan, Megan E., Knight, James, Kim, Hyung-Goo, Layman, Lawrence C.

Source: Scientific reports. 9(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131411170.0x000001&indx=1&recIds=ETOCvdc_100131411170.0x000001

Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.

Authors: Brakta, Soumia, Hawkins, Zoe A., Sahajpal, Nikhil, Seman, Natalie, Kira, Dina, Chorich, Lynn P., Kim, Hyung-Goo, Xu, Hongyan, Phillips III, John A., Kolhe, Ravindra, Layman, Lawrence C.

Source: Human Genetics; Apr2023, Vol. 142 Issue 4, p483-494, 12p

Subject Terms: MAYER-Rokitansky-Kuster-Hauser syndrome, GENE mapping, MOSAICISM, FLUORESCENCE in situ hybridization, DNA copy number variations

Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia

Authors: Demir Eksi, Durkadin, Shen, Yiping, Erman, Munire, Chorich, Lynn P., Sullivan, Megan E., Bilekdemir, Meric, Yılmaz, Elanur, Luleci, Guven, Kim, Hyung-Goo, Alper, Ozgul M., Layman, Lawrence C.

Source: Molecular cytogenetics. 11(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100129338128.0x000001&indx=1&recIds=ETOCvdc_100129338128.0x000001

R-SPONDIN 1 GENE VARIANT ASSOCIATED WITH 46,XX DIFFERENCE OF SEX DEVELOPMENT

Authors: Roman, Robert A., Chorich, Lynn P., Kim, Hyung-Goo, Layman, Lawrence C.

Source: In Fertility and Sterility October 2023 120(4) Supplement:e103-e103

Screening candidate genes for mutations in patients with hypogonadotropic hypogonadism using custom genome resequencing microarrays

Authors: Xu, Ning, Podolsky, Robert H., Chudgar, Pranav, Chorich, Lynn P., Liu, Chunmei, McDonough, Paul G., Warrington, Janet A., Layman, Lawrence C.

Source: In American Journal of Obstetrics and Gynecology 2005 192(4):1274-1282

Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome.

Authors: Mikhael, Sasha, Dugar, Sonal, Morton, Madison, Chorich, Lynn P., Tam, Kerlene Berwick, Lossie, Amy C., Kim, Hyung-Goo, Knight, James, Taylor, Hugh S., Mukherjee, Souhrid, Capra, John A., Phillips III, John A., Friez, Michael, Layman, Lawrence C.

Source: Human Genetics; Apr2021, Vol. 140 Issue 4, p667-680, 14p

Subject Terms: GENES, EXOMES, UTERUS, VAGINA, GENETICS, FEMALE reproductive organs, SYNDROMES