• 3402 Citations
  • 34 h-Index
1985 …2020

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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

Absence of the testicular determining factor gene SRY in XX true hermaphrodites and presence of this locus in most subjects with gonadal dysgenesis caused by Y aneuploidy

Tho, S. P. T., Layman, L. C., Lanclos, K. D., Plouffe, L., Rogers Byrd, J. & McDonough, P. G., Dec 1992, In : American journal of obstetrics and gynecology. 167, 6, p. 1794-1802 9 p.

Research output: Contribution to journalArticle

10 Scopus citations

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

Administration of progesterone before oocyte retrieval negatively affects the implantation rate

Sohn, S. H., Penzias, A. S., Emmi, A. M., Dubey, A. K., Layman, L. C., Reindollar, R. H. & DeCherney, A. H., Jan 1 1999, In : Fertility and sterility. 71, 1, p. 11-14 4 p.

Research output: Contribution to journalArticle

39 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

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

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

31 Scopus citations

Analysis of the Cys82Arg mutation in follicle-stimulating hormone beta (FSHβ) using a novel FSH expression vector

Clark, A. D. & Layman, L. C., Feb 1 2003, In : Fertility and Sterility. 79, 2, p. 379-385 7 p.

Research output: Contribution to journalArticle

10 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

17 Scopus citations

Antenatal sonographic diagnosis of conjoined twins in a triplet pregnancy

Koontz, W. L., Layman, L. C., Adams, A. & Patrick Lavery, J., Sep 15 1985, In : American Journal of Obstetrics and Gynecology. 153, 2, p. 230-231 2 p.

Research output: Contribution to journalArticle

13 Scopus citations

A zona biochemical change and spontaneous cortical granule loss in eggs that fail to fertilize in in vitro fertilization

Ducibella, T., Dubey, A., Gross, V., Emmi, A., Penzias, A. S., Layman, L. & Reindollar, R., Jan 1 1995, In : Fertility and sterility. 64, 6, p. 1154-1161 8 p.

Research output: Contribution to journalArticle

35 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

Biochemical study of individual zonae from human oocytes that failed to undergo fertilization in intracytoplasmic sperm injection

Gross, V., Dubey, A., Penzias, A. S., Layman, L., Reindollar, R. & Ducibella, T., Jan 1 1996, In : Molecular Human Reproduction. 2, 12, p. 959-965 7 p.

Research output: Contribution to journalArticle

14 Scopus citations

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

83 Scopus citations
22 Scopus citations
5 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

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

62 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 journalArticle

2 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

79 Scopus citations

Delayed puberty and hypogonadism caused by mutations in the follicle- stimulating hormone β-subunit gene

Layman, L. C., Lee, E. J., Peak, D. B., Namnoum, A. B., Vu, K. V., Van Lingen, B. L., Gray, M. R., McDonough, P. G., Reindollar, R. H. & Jameson, J. L., Aug 28 1997, In : New England Journal of Medicine. 337, 9, p. 607-611 5 p.

Research output: Contribution to journalArticle

211 Scopus citations

Dicavitary uteri with twin gestation: A case following clomiphene citrate therapy and review of obstetric outcomes

Vandermolen, D. T., Layman, L. C. & Devoe, L. D., Jan 1 1993, In : American Journal of Perinatology. 10, 6, p. 444-447 4 p.

Research output: Contribution to journalArticle

5 Scopus citations

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

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

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

Essential genetics for the obstetrician/gynecologist

Layman, L. C., Jan 1 2000, In : Obstetrics and Gynecology Clinics of North America. 27, 3, p. 555-566 12 p.

Research output: Contribution to journalArticle

3 Scopus citations

Etiologic factors of recurrent abortion and subsequent reproductive performance of couples: Have we made any progress in the past 10 years?

Plouffe, L., White, E. W., Tho, S. P., Sweet, C. S., Layman, L. C., Whitman, G. F. & McDonough, P. G., Jan 1 1992, In : American Journal of Obstetrics and Gynecology. 167, 2, p. 313-321 9 p.

Research output: Contribution to journalArticle

55 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

Failed fertilization after intracytoplasmic sperm injection: The extent of paternal and maternal chromatin decondensation

Dubey, A. K., Layman, L. C., Penzias, A. S., Reindollar, R. H., Emmi, A. E. & Ducibella, T., Oct 1 1997, In : Fertility and Sterility. 68, 4, p. 714-717 4 p.

Research output: Contribution to journalArticle

15 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

Familial gonadotropin-releasing hormone resistance and hypogonadotropic hypogonadism in a family with multiple affected individuals

Layman, L. C., McDonough, P. G., Cohen, D. P., Maddox, M., Tho, S. P. T. & Reindollar, R. H., Jun 21 2001, In : Fertility and Sterility. 75, 6, p. 1148-1155 8 p.

Research output: Contribution to journalArticle

34 Scopus citations

Febrile and Infectious Morbidity After Laparotomy for Ectopic Pregnancy: Potential for Antibiotic Prophylaxis

Layman, L. C. & Sanfilippo, J. S., Jan 1 1990, In : Journal of Gynecologic Surgery. 6, 3, p. 161-167 7 p.

Research output: Contribution to journalArticle

1 Scopus citations

Follicle-stimulating hormone beta gene structure in premature ovarian failure

Layman, L. C., Shelley, M. E., Huey, L. O., Wall, S. W., Tho, S. P. T. & McDonough, P. G., Jan 1 1993, In : Fertility and sterility. 60, 5, p. 852-857 6 p.

Research output: Contribution to journalArticle

25 Scopus citations

FSHβ gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia

Layman, L. C., Porto, A. L. A., Xie, J., Da Motta, L. A. C. R., Da Motta, L. D. C., Weiser, W. & Sluss, P. M., Aug 24 2002, In : Journal of Clinical Endocrinology and Metabolism. 87, 8, p. 3702-3707 6 p.

Research output: Contribution to journalArticle

102 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.e2

Research output: Contribution to journalArticle

8 Scopus citations

Genetic aspects of amenorrhea

Layman, L. C., Apr 1 1999, In : Contemporary Ob-Gyn. 44, 4, p. 27-40 14 p.

Research output: Contribution to journalArticle

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

19 Scopus citations

Gonadotropin-releasing hormone, follicle-stimulating hormone beta, luteinizing hormone beta gene structure in idiopathic hypogonadotropic hypogonadism

Layman, L. C., Wilson, J. T., Huey, L. O., Lanclos, K. D., Plouffe, L. & McDonough, P. G., Jan 1 1992, In : Fertility and sterility. 57, 1, p. 42-49 8 p.

Research output: Contribution to journalArticle

29 Scopus citations

Gonadotropin-releasing hormone-associated peptide gene sequences in women with hyperprolactinemia

Moretuzzo, R. W., Layman, L. C., Tho, S. P. T., Reindollar, R. H., Gray, M. R. & McDonough, P. G., Jan 1 1992, In : Fertility and sterility. 58, 5, p. 908-913 6 p.

Research output: Contribution to journalArticle

1 Scopus citations

Human chorionic gonadotrophin-β gene sequences in women with disorders of HCG production

Layman, L. C., Edwards, J. L., Osborne, W. E., Peak, D. B., Gallup, D. G., Tho, S. P. T., Reindollar, R. H., Roach, D. J., McDonough, P. G. & Lanclos, K. D., Dec 1 1997, In : Molecular Human Reproduction. 3, 4, p. 315-320 6 p.

Research output: Contribution to journalArticle

10 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

Identification of restriction-fragment length polymorphisms for the human chorionic gonadotropin-β/luteinizing hormone-β gene cluster

Roach, D. J., Layman, L. C., McDonough, P. G., Lanclos, K. D., Wall, S. W. & Wilson, J. T., Jan 1 1992, In : Fertility and sterility. 58, 5, p. 914-918 5 p.

Research output: Contribution to journalArticle

3 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

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

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

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

104 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

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 journalArticle

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
4 Scopus citations