• 3370 Citations
  • 34 h-Index
1985 …2020

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

Filter
Article
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.e1

Research output: Contribution to journalArticle

1 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, Hummel, O., Islam, Z., Kolatkar, P. R., Layman, L. C., Ryu, D., Kong, I. K., Madan-Khetarpal, S. & Kim, C. H., Oct 22 2019, In : Molecular Autism. 10, 1, 35.

Research output: Contribution to journalArticle

Open Access

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 journalArticle

Open Access
2018

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 journalArticle

2 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 journalArticle

2 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 1 2018, In : EMBO Reports. 19, 2, p. 269-289 21 p.

Research output: Contribution to journalArticle

5 Scopus citations
2017

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.e2

Research output: Contribution to journalArticle

8 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 journalArticle

4 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 journalArticle

9 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 journalArticle

16 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 journalArticle

2 Scopus citations
4 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 journalArticle

4 Scopus citations

Steric clash in the SET domain of histone methyltransferase NSD1 as a cause of sotos syndrome and its genetic heterogeneity in a Brazilian cohort

Ha, K., Anand, P., Lee, J. A., Jones, J. R., Kim, C. A., Bertola, D. R., Labonne, J. D. J., Layman, L. C., Wenzel, W. & Kim, H. G., Nov 2016, In : Genes. 7, 11, 96.

Research output: Contribution to journalArticle

1 Scopus citations

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

Quaynor, S. D., Bosley, M. E., Duckworth, C. G., Porter, K. R., Kim, S. H., Kim, H. G., Chorich, L. P., Sullivan, M. E., Choi, J. H., Cameron, R. S. & Layman, L. C., Dec 5 2016, In : Molecular and Cellular Endocrinology. 437, p. 86-96 11 p.

Research output: Contribution to journalArticle

22 Scopus citations
2015

A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies

Labonne, J. D. J., Vogt, J., Reali, L., Kong, I. K., Layman, L. C. & Kim, H. G., Dec 1 2015, In : American Journal of Medical Genetics, Part A. 167, 12, p. 3011-3018 8 p.

Research output: Contribution to journalArticle

8 Scopus citations

Expanding the spectrum of founder mutations causing isolated gonadotropin-releasing hormone deficiency

Choi, J. H., Balasubramanian, R., Lee, P. H., Shaw, N. D., Hall, J. E., Plummer, L., Buck, C. L., Kottler, M. L., Jarzabek, K., Wołczynski, S., Quinton, R., Latronico, A. C., Dode, C., Ogata, T., Kim, H. G., Layman, L. C., Gusella, J. F. & Crowley, W. F., Oct 1 2015, In : Journal of Clinical Endocrinology and Metabolism. 100, 10, p. E1378-E1385

Research output: Contribution to journalArticle

11 Scopus citations

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

Dobek, W. A., Kim, H. G., Walls, C. A., Chorich, L. P., Tho, S. P., Wang, Z. X., McDonough, P. G. & Layman, L. C., Dec 12 2015, In : Molecular Cytogenetics. 8, 1, 13.

Research output: Contribution to journalArticle

4 Scopus citations

MicroRNA-223 expression is upregulated in insulin resistant human adipose tissue

Chuang, T. Y., Wu, H. L., Chen, C. C., Gamboa, G. M., Layman, L. C., Diamond, M. P., Azziz, R. & Chen, Y-H., Jan 1 2015, In : Journal of Diabetes Research. 2015, 943659.

Research output: Contribution to journalArticle

34 Scopus citations

NELF knockout is associated with impaired pubertal development and subfertility

Quaynor, S. D., Ko, E. K., Chorich, L. P., Sullivan, M. E., Demir, D., Waller, J. L., Kim, H. G., Cameron, R. S. & Layman, L. C., May 5 2015, In : Molecular and Cellular Endocrinology. 407, p. 26-36 11 p.

Research output: Contribution to journalArticle

12 Scopus citations

Novel MED12 gene somatic mutations in women from the Southern United States with symptomatic uterine fibroids

Halder, S. K., Laknaur, A., Miller, J., Layman, L. C., Diamond, M. & Al-Hendy, A., Mar 17 2015, In : Molecular Genetics and Genomics. 290, 2, p. 505-511 7 p.

Research output: Contribution to journalArticle

43 Scopus citations
2014

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

Quaynor, S. D., Goldberg, L. Y., Ko, E. K., Stanley, R. K., Demir, D., Kim, H. G., Chorich, L. P., Cameron, R. S. & Layman, L. C., Mar 5 2014, In : Molecular and Cellular Endocrinology. 383, 1, p. 32-37 6 p.

Research output: Contribution to journalArticle

3 Scopus citations

Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene

Bhagavath, B., Layman, L. C., Ullmann, R., Shen, Y., Ha, K., Rehman, K., Looney, S., McDonough, P. G., Kim, H. G. & Carr, B. R., Aug 5 2014, In : Molecular and Cellular Endocrinology. 393, 1-2, p. 1-7 7 p.

Research output: Contribution to journalArticle

12 Scopus citations

Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up

Jun, K. R., Ullmann, R., Khan, S., Layman, L. C. & Kim, H. G., Aug 19 2014, In : Molecular Cytogenetics. 7, 1, 52.

Research output: Contribution to journalArticle

1 Scopus citations

The expression of the miR-25/93/106b family of micro-RNAs in the adipose tissue of women with polycystic ovary syndrome

Wu, H. L., Heneidi, S., Chuang, T. Y., Diamond, M. P., Layman, L. C., Azziz, R. & Chen, Y. H., Dec 1 2014, In : Journal of Clinical Endocrinology and Metabolism. 99, 12, p. E2754-E2761

Research output: Contribution to journalArticle

19 Scopus citations

The historical Coffin-Lowry syndrome family revisited: Identification of two novel mutations of RPS6KA3 in three male patients

Nishimoto, H. K., Ha, K., Jones, J. R., Dwivedi, A., Cho, H. M., Layman, L. C. & Kim, H. G., Sep 2014, In : American Journal of Medical Genetics, Part A. 164, 9, p. 2172-2179 8 p.

Research output: Contribution to journalArticle

14 Scopus citations
2013

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

Nguyen, L. S., Kim, H. G., Rosenfeld, J. A., Shen, Y., Gusella, J. F., Lacassie, Y., Layman, L. C., Shaffer, L. G. & Gécz, J., May 1 2013, In : Human Molecular Genetics. 22, 9, p. 1816-1825 10 p., ddt035.

Research output: Contribution to journalArticle

61 Scopus citations

Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant

Quaynor, S. D., Stradtman, E. W., Kim, H. G., Shen, Y., Chorich, L. P., Schreihofer, D. A. & Layman, L. C., Jan 1 2013, In : New England Journal of Medicine. 369, 2, p. 164-171 8 p.

Research output: Contribution to journalArticle

76 Scopus citations

Identification of HESX1 mutations in Kallmann syndrome

Newbern, K., Natrajan, N., Kim, H. G., Chorich, L. P., Halvorson, L. M., Cameron, R. S. & Layman, L. C., Jun 1 2013, In : Fertility and sterility. 99, 7, p. 1831-1837 7 p.

Research output: Contribution to journalArticle

16 Scopus citations

Liquid chromatography-tandem mass spectrometry analysis of human adrenal vein 19-carbon steroids before and after ACTH stimulation

Rege, J., Nakamura, Y., Satoh, F., Morimoto, R., Kennedy, M. R., Layman, L. C., Honma, S., Sasano, H. & Rainey, W. E., Mar 1 2013, In : Journal of Clinical Endocrinology and Metabolism. 98, 3, p. 1182-1188 7 p.

Research output: Contribution to journalArticle

102 Scopus citations

Mirna-93 inhibits glut4 and is overexpressed in adipose tissue of polycystic ovary syndrome patients and women with insulin resistance

Chen, Y. H., Heneidi, S., Lee, J. M., Layman, L. C., Stepp, D. W., Gamboa, G. M., Chen, B. S., Chazenbalk, G. & Azziz, R., Jul 2013, In : Diabetes. 62, 7, p. 2278-2286 9 p.

Research output: Contribution to journalArticle

123 Scopus citations
2012

Role of ART in imprinting disorders

Eroglu, A. & Layman, L. C., May 2 2012, In : Seminars in Reproductive Medicine. 30, 2, p. 92-104 13 p.

Research output: Contribution to journalArticle

43 Scopus citations

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

Kim, H. G., Kim, H. T., Leach, N. T., Lan, F., Ullmann, R., Silahtaroglu, A., Kurth, I., Nowka, A., Seong, I. S., Shen, Y., Talkowski, M. E., Ruderfer, D., Lee, J. H., Glotzbach, C., Ha, K., Kjaergaard, S., Levin, A. V., Romeike, B. F., Kleefstra, T., Bartsch, O. & 15 others, Elsea, S. H., Jabs, E. W., MacDonald, M. E., Harris, D. J., Quade, B. J., Ropers, H. H., Shaffer, L. G., Kutsche, K., Layman, L. C., Tommerup, N., Kalscheuer, V. M., Shi, Y., Morton, C. C., Kim, C. H. & Gusella, J. F., Jul 13 2012, In : American journal of human genetics. 91, 1, p. 56-72 17 p.

Research output: Contribution to journalArticle

29 Scopus citations
2011

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

Xu, N., Kim, H. G., Bhagavath, B., Cho, S. G., Lee, J. H., Ha, K., Meliciani, I., Wenzel, W., Podolsky, R. H., Chorich, L. P., Stackhouse, K. A., Grove, A. M. H., Odom, L. N., Ozata, M., Bick, D. P., Sherins, R. J., Kim, S. H., Cameron, R. S. & Layman, L. C., Apr 2011, In : Fertility and sterility. 95, 5, p. 1613-1620.e7

Research output: Contribution to journalArticle

43 Scopus citations

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

Quaynor, S. D., Kim, H. G., Cappello, E. M., Williams, T., Chorich, L. P., Bick, D. P., Sherins, R. J. & Layman, L. C., Jan 1 2011, In : Fertility and sterility. 96, 6

Research output: Contribution to journalArticle

58 Scopus citations
2010

Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations

Kim, H. G., Pedersen-White, J., Bhagavath, B. & Layman, L. C., Apr 8 2010, In : Frontiers of Hormone Research. 39, p. 94-110 17 p.

Research output: Contribution to journalArticle

18 Scopus citations
4 Scopus citations

NELF is a nuclear protein involved in hypothalamic GnRH neuronal migration

Xu, N., Bhagavath, B., Kim, H. G., Halvorson, L., Podolsky, R. S., Chorich, L. P., Prasad, P. D., Xiong, W., Cameron, R. S. & Layman, L. C., May 5 2010, In : Molecular and Cellular Endocrinology. 319, 1-2, p. 47-55 9 p.

Research output: Contribution to journalArticle

17 Scopus citations

Rarer syndromes characterized by hypogonadotropic hypogonadism

Aminzadeh, M., Kim, H. G., Layman, L. C. & Cheetham, T. D., Apr 8 2010, In : Frontiers of Hormone Research. 39, p. 154-167 14 p.

Research output: Contribution to journalArticle

7 Scopus citations

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

Kim, H. G., Ahn, J. W., Kurth, I., Ullmann, R., Kim, H. T., Kulharya, A., Ha, K. S., Itokawa, Y., Meliciani, I., Wenzel, W., Lee, D., Rosenberger, G., Ozata, M., Bick, D. P., Sherins, R. J., Nagase, T., Tekin, M., Kim, S. H., Kim, C. H., Ropers, H. H. & 4 others, Gusella, J. F., Kalscheuer, V., Choi, C. Y. & Layman, L. C., Oct 8 2010, In : American journal of human genetics. 87, 4, p. 465-479 15 p.

Research output: Contribution to journalArticle

107 Scopus citations
2009

Phenotypic spectrum of 45,X/46,XY males with a ring Y chromosome and bilaterally descended testes

Layman, L. C., Tho, S. P. T., Clark, A. D., Kulharya, A. & McDonough, P. G., Mar 1 2009, In : Fertility and sterility. 91, 3, p. 791-797 7 p.

Research output: Contribution to journalArticle

38 Scopus citations

Retrieval of rhesus monkey (Macaca mulatta) oocytes by ultrasound-guided needle aspiration: Problems and solutions

Rodriguez, N. A., Si, W., Emmi, A. M., Layman, L. C. & Eroglu, A., Sep 1 2009, In : Molecular Reproduction and Development. 76, 9, p. 890-896 7 p.

Research output: Contribution to journalArticle

1 Scopus citations
2008

Effects of follicle-stimulating hormone and human chorionic gonadotropin on gonadal steroidogenesis in two siblings with a follicle-stimulating hormone β subunit mutation

Lofrano-Porto, A., Casulari, L. A., Nascimento, P. P., Giacomini, L., Naves, L. A., da Motta, L. D. C. & Layman, L. C., Oct 1 2008, In : Fertility and sterility. 90, 4, p. 1169-1174 6 p.

Research output: Contribution to journalArticle

23 Scopus citations

Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

Kim, H. G., Kurth, I., Lan, F., Meliciani, I., Wenzel, W., Eom, S. H., Kang, G. B., Rosenberger, G., Tekin, M., Ozata, M., Bick, D. P., Sherins, R. J., Walker, S. L., Shi, Y., Gusella, J. F. & Layman, L. C., Oct 10 2008, In : American journal of human genetics. 83, 4, p. 511-519 9 p.

Research output: Contribution to journalArticle

201 Scopus citations

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

Pedersen-White, J. R., Chorich, L. P., Bick, D. P., Sherins, R. J. & Layman, L. C., Jun 1 2008, In : Molecular Human Reproduction. 14, 6, p. 367-370 4 p.

Research output: Contribution to journalArticle

43 Scopus citations
2007

A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism

Xu, N., Qin, Y., Reindollar, R. H., Tho, S. P. T., McDonough, P. G. & Layman, L. C., Mar 2007, In : Journal of Clinical Endocrinology and Metabolism. 92, 3, p. 1155-1158 4 p.

Research output: Contribution to journalArticle

30 Scopus citations

KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans

Bhagavath, B., Xu, N., Ozata, M., Rosenfield, R. L., Bick, D. P., Sherins, R. J. & Layman, L. C., Mar 1 2007, In : Molecular Human Reproduction. 13, 3, p. 25-30 6 p.

Research output: Contribution to journalArticle

27 Scopus citations

Long-term follow-up and analysis of monozygotic twins concordant for 45,X/46,XY peripheral blood karyotype but discordant for phenotypic sex

Tho, S. P., Jackson, R., Kulharya, A. S., Reindollar, R. H., Layman, L. C. & McDonough, P. G., Nov 1 2007, In : American Journal of Medical Genetics, Part A. 143, 21, p. 2616-2622 7 p.

Research output: Contribution to journalArticle

17 Scopus citations

Successful management of cervical pregnancy with medical intervention only: A case report

Emmi, A. M., Devoe, L. D., Chudgar, D. B., Holsten, E. & Layman, L. C., Oct 1 2007, In : Journal of Reproductive Medicine for the Obstetrician and Gynecologist. 52, 10, p. 950-952 3 p.

Research output: Contribution to journalArticle

4 Scopus citations
2006

Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism

Bhagavath, B., Podolsky, R. H., Ozata, M., Bolu, E., Bick, D. P., Kulharya, A., Sherins, R. J. & Layman, L. C., Jan 1 2006, In : Fertility and Sterility. 85, 3, p. 706-713 8 p.

Research output: Contribution to journalArticle

82 Scopus citations