Evaluation of Mayer-Rokitansky-Kuster-Hauser (MRKH) Patient Families by Whole Genome Sequencing

מאת Dougherty, Michael P, Chorich, Lynn P, Layman, Lawrence Clarke
הוצא לאור ב J Endocr Soc (2021)

The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

מאת Pedersen-White, Jennifer R., Chorich, Lynn P., Bick, David P., Sherins, Richard J., Layman, Lawrence C.
יצא לאור 2008

The identification of HESX1 mutations in Kallmann syndrome

מאת Newbern, Kayce, Natrajan, Nithya, Kim, Hyung-Goo, Chorich, Lynn .P., Halvorson, Lisa, Cameron, Richard S., Layman, Lawrence C.
יצא לאור 2013

Delayed Puberty and Estrogen Resistance in a Woman with Estrogen Receptor α Variant

מאת Quaynor, Samuel D., Stradtman, Earl W., Kim, Hyung-Goo, Shen, Yiping, Chorich, Lynn P., Schreihofer, Derek A., Layman, Lawrence C.
יצא לאור 2013

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

מאת Theisen, J. Graham, Sundaram, Viji, Filchak, Mary S., Chorich, Lynn P., Sullivan, Megan E., Knight, James, Kim, Hyung-Goo, Layman, Lawrence C.
הוצא לאור ב Sci Rep (2019)

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

מאת Brakta, Soumia, Chorich, Lynn P, Kim, Hyung-Goo, Coons, Laurel A, Katzenellenbogen, John A, Hall, Janet E, Korach, Kenneth S, Layman, Lawrence C
הוצא לאור ב J Clin Endocrinol Metab (2020)

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

מאת Quaynor, Samuel D., Kim, Hyung-Goo, Cappello, Elizabeth M., Williams, Tiera, Chorich, Lynn P., Bick, David P., Sherins, Richard J., Layman, Lawrence C.
יצא לאור 2011

NELF Is a Nuclear Protein Involved in Hypothalamic GnRH Neuronal Migration

מאת Xu, Ning, Bhagavath, Balasubramanian, Kim, Hyung-Goo, Halvorson, Lisa, Podolsky, Robert S., Chorich, Lynn P., Prasad, Puttur, Xiong, Wen-Cheng, Cameron, Richard S., Layman, Lawrence C.
יצא לאור 2009

Differential Expression of Nasal Embryonic LHRH Factor (NELF) Variants in Immortalized GnRH Neuronal Cell Lines

מאת 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.
יצא לאור 2013

Long-term follow-up of females with unbalanced X;Y translocations—reproductive and nonreproductive consequences

מאת Dobek, Whitney A, Kim, Hyung-Goo, Walls, Cedric A, Chorich, Lynn P, Tho, Sandra PT, Wang, Zi-Xuan, McDonough, Paul G, Layman, Lawrence C
הוצא לאור ב Mol Cytogenet (2015)

NELF knockout is associated with impaired pubertal development and subfertility

מאת 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.
הוצא לאור ב Mol Cell Endocrinol (2015)

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

מאת Williams, Lacey S., Kim, Hyung-Goo, Kalscheuer, Vera M., Tuck, J. Matthew, Chorich, Lynn P., Sullivan, Megan E., Falkenstrom, Allison, Reindollar, Richard H., Layman, Lawrence C.
הוצא לאור ב Mol Cytogenet (2016)

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

מאת 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.
הוצא לאור ב Mol Cytogenet (2018)

Genetic Analysis of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Through Ascertainment of a Large Cohort of Families

מאת Williams, Lacey S., Eksi, Durkadin Demir, Shen, Yiping, Lossie, Amy C., Chorich, Lynn P., Sullivan, Megan E., Phillips, John A., Erman, Munire, Kim, Hyung-Goo, Alper, Ozgul M., Layman, Lawrence C.
הוצא לאור ב Fertil Steril (2017)

Nasal Embryonic LHRH Factor (NELF) Mutations in Patients with Normosmic Hypogonadotropic Hypogonadism and Kallmann Syndrome

מאת 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.
יצא לאור 2011