Works matching AU Balasubramanian, Ravikumar

Results: 38

Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study.

Published in:

Human Genetics, 2025, v. 144, n. 7, p. 761, doi. 10.1007/s00439-025-02754-w

By:

Stamou, Maria I.;
Chiu, Crystal J.;
Jadhav, Shreya V.;
Salnikov, Kathryn B.;
Plummer, Lacey;
Seminara, Stephanie B.;
Balasubramanian, Ravikumar

Publication type:

Article

Gli3 Regulates Vomeronasal Neurogenesis, Olfactory Ensheathing Cell Formation, and GnRH-1 Neuronal Migration.

Published in:

Journal of Neuroscience, 2020, v. 40, n. 2, p. 311, doi. 10.1523/JNEUROSCI.1977-19.2019

By:

Taroc, Ed Zandro M.;
Naik, Ankana S.;
Lin, Jennifer M.;
Peterson, Nicolas B.;
Keefe Jr., David L.;
Genis, Elizabet;
Fuchs, Gabriele;
Balasubramanian, Ravikumar;
Forni, Paolo E.

Publication type:

Article

Human GnRH Deficiency: A Unique Disease Model to Unravel the Ontogeny of GnRH Neurons.

Published in:

Neuroendocrinology, 2010, v. 92, n. 2, p. 81, doi. 10.1159/000314193

By:

Balasubramanian, Ravikumar;
Dwyer, Andrew;
Seminara, Stephanie B.;
Pitteloud, Nelly;
Kaiser, Ursula B.;
Crowley Jr., William F.

Publication type:

Article

POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression.

Published in:

Frontiers in Endocrinology, 2023, p. 01, doi. 10.3389/fendo.2023.1203542

By:

Hyun-Ju Cho;
Gurbuz, Fatih;
Stamou, Maria;
Kotan, Leman Damla;
Farmer, Stephen Matthew;
Can, Sule;
Tompkins, Miranda Faith;
Mammadova, Jamala;
Altincik, S. Ayca;
Gokce, Cumali;
Catli, Gonul;
Bugrul, Fuat;
Bartlett, Keenan;
Turan, Ihsan;
Balasubramanian, Ravikumar;
Yuksel, Bilgin;
Seminara, Stephanie B.;
Wray, Susan;
Topaloglu, A. Kemal

Publication type:

Article

Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.

Published in:

Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.1054447

By:

Dwyer, Andrew A.;
Stamou, Maria;
McDonald, Isabella R.;
Anghel, Ella;
Cox, Kimberly H.;
Salnikov, Kathryn B.;
Plummer, Lacey;
Seminara, Stephanie B.;
Balasubramanian, Ravikumar

Publication type:

Article

Correction: A Prevalent Variant in PPP1R3A Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice.

Published in:

2008

By:

Savage, David B.;
Zhai, Lanmin;
Ravikumar, Balasubramanian;
Cheol Soo Choi;
Snaar, Johanna E.;
McGuire, Amanda C.;
Sung-Eun Wou;
Medina-Gomez, Gemma;
Kim, Sheene;
Bock, Cheryl B.;
Segvich, Dyann M.;
Solanky, Bhavana;
Deelchand, Dinesh;
Vidal-Puig, Antonio;
Wareham, Nicholas J.;
Shulman, Gerald I.;
Karpe, Fredrik;
Taylor, Roy;
Pederson, Bartholomew A.;
Roach, Peter J.

Publication type:

Correction Notice

A Prevalent Variant in PPP1R3A Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice.

Published in:

PLoS Medicine, 2008, v. 5, n. 1, p. e27, doi. 10.1371/journal.pmed.0050027

By:

Savage, David B.;
Lanmin Zhai;
Ravikumar, Balasubramanian;
Cheol Soo Choi;
Snaar, Johanna E.;
McGuire, Amanda C.;
Sung-Eun Wou;
Medina-Gomez, Gemma;
Sheene Kim;
Bock, Cheryl B.;
Segvich, Dyann M.;
Vidal-Puig, Antonio;
Wareham, Nicholas J.;
Shulman, Gerald I.;
Karpe, Fredrik;
Taylor, Roy;
Pederson, Bartholomew A.;
Roach, Peter J.;
O'Rahilly, Stephen;
DePaoli-Roach, Anna A.

Publication type:

Article

Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With FGFR1 Mutations.

Published in:

Journal of the Endocrine Society, 2024, v. 8, n. 8, p. 1, doi. 10.1210/jendso/bvae118

By:

Stamou, Maria I;
Chiu, Crystal J;
Jadhav, Shreya V;
Lopes, Vanessa Ferreira;
Salnikov, Kathryn B;
Plummer, Lacey;
Lippincott, Margaret F;
Lee, Hang;
Seminara, Stephanie B;
Balasubramanian, Ravikumar

Publication type:

Article

Reversal of isolated hypogonadotropic hypogonadism: long-term integrity of hypothalamo-pituitary-testicular axis in two men is dependent on intermittent androgen exposure.

Published in:

Clinical Endocrinology, 2014, v. 81, n. 3, p. 473, doi. 10.1111/cen.12347

By:

Santhakumar, Anjali;
Balasubramanian, Ravikumar;
Miller, Margaret;
Quinton, Richard

Publication type:

Article

A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 10, p. 1722, doi. 10.1093/hmg/ddad014

By:

Wang, Xinying;
Chen, Danna;
Zhao, Yaguang;
Men, Meichao;
Chen, Zhiheng;
Jiang, Fang;
Zheng, Ruizhi;
Stamou, Maria I;
Plummer, Lacey;
Balasubramanian, Ravikumar;
Li, Jia-Da

Publication type:

Article

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 14, p. 2435, doi. 10.1093/hmg/ddaa120

By:

Davis, Erica E;
Balasubramanian, Ravikumar;
Kupchinsky, Zachary A;
Keefe, David L;
Plummer, Lacey;
Khan, Kamal;
Meczekalski, Blazej;
Heath, Karen E;
Lopez-Gonzalez, Vanesa;
Ballesta-Martinez, Mary J;
Margabanthu, Gomathi;
Price, Susan;
Greening, James;
Brauner, Raja;
Valenzuela, Irene;
Cusco, Ivon;
Fernandez-Alvarez, Paula;
Wierman, Margaret E;
Li, Taibo;
Lage, Kasper

Publication type:

Article

Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005033

By:

Wanxue Xu;
Plummer, Lacey;
Quinton, Richard;
Swords, Francesca;
Crowley, William F.;
Seminara, Stephanie B.;
Balasubramanian, Ravikumar

Publication type:

Article

Lack of a genetic risk continuum between pubertal timing in the general population and idiopathic hypogonadotropic hypogonadism.

Published in:

Journal of Neuroendocrinology, 2024, v. 36, n. 10, p. 1, doi. 10.1111/jne.13445

By:

Plummer, Lacey;
Balasubramanian, Ravikumar;
Stamou, Maria;
Campbell, Mark;
Dewan, Pranav;
Bryant, Nora;
Salnikov, Kathryn;
Lippincott, Margaret;
Seminara, Stephanie

Publication type:

Article

Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.

Published in:

2015

By:

Choi, Jin-Ho;
Balasubramanian, Ravikumar;
Lee, Phil H;
Shaw, Natalie D;
Hall, Janet E;
Plummer, Lacey;
Buck, Cassandra L;
Kottler, Marie-Laure;
Jarzabek, Katarzyna;
Wołczynski, Sławomir;
Quinton, Richard;
Latronico, Ana Claudia;
Dode, Catherine;
Ogata, Tsutomu;
Kim, Hyung-Goo;
Layman, Lawrence C;
Gusella, James F;
Crowley, William F Jr

Publication type:

journal article

Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.

Published in:

2015

By:

Balasubramanian, Ravikumar;
Chew, Sheena;
MacKinnon, Sarah E;
Kang, Peter B;
Andrews, Caroline;
Chan, Wai-Man;
Engle, Elizabeth C

Publication type:

journal article

Absence of central circadian pacemaker abnormalities in humans with loss of function mutation in prokineticin 2.

Published in:

2014

By:

Balasubramanian, Ravikumar;
Cohen, Daniel A;
Klerman, Elizabeth B;
Pignatelli, Duarte;
Hall, Janet E;
Dwyer, Andrew A;
Czeisler, Charles A;
Pitteloud, Nelly;
Crowley, William F

Publication type:

journal article

Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.

Published in:

2014

By:

Sidhoum, Valerie F;
Chan, Yee-Ming;
Lippincott, Margaret F;
Balasubramanian, Ravikumar;
Quinton, Richard;
Plummer, Lacey;
Dwyer, Andrew;
Pitteloud, Nelly;
Hayes, Frances J;
Hall, Janet E;
Martin, Kathryn A;
Boepple, Paul A;
Seminara, Stephanie B

Publication type:

journal article

Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.

Published in:

2013

By:

Costa-Barbosa, Flavia Amanda;
Balasubramanian, Ravikumar;
Keefe, Kimberly W;
Shaw, Natalie D;
Al-Tassan, Nada;
Plummer, Lacey;
Dwyer, Andrew A;
Buck, Cassandra L;
Choi, Jin-Ho;
Seminara, Stephanie B;
Quinton, Richard;
Monies, Dorota;
Meyer, Brian;
Hall, Janet E;
Pitteloud, Nelly;
Crowley Jr, William F;
Crowley, William F Jr

Publication type:

journal article

Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications.

Published in:

2012

By:

Lewkowitz-Shpuntoff HM;
Hughes VA;
Plummer L;
Au MG;
Doty RL;
Seminara SB;
Chan YM;
Pitteloud N;
Crowley WF Jr;
Balasubramanian R;
Lewkowitz-Shpuntoff, Hilana M;
Hughes, Virginia A;
Plummer, Lacey;
Au, Margaret G;
Doty, Richard L;
Seminara, Stephanie B;
Chan, Yee-Ming;
Pitteloud, Nelly;
Crowley, William F Jr;
Balasubramanian, Ravikumar

Publication type:

journal article

Evaluating co‐created patient‐facing materials to increase understanding of genetic test results.

Published in:

Journal of Genetic Counseling, 2021, v. 30, n. 2, p. 598, doi. 10.1002/jgc4.1348

By:

Dwyer, Andrew A.;
Au, Margaret G.;
Smith, Neil;
Plummer, Lacey;
Lippincott, Margaret F.;
Balasubramanian, Ravikumar;
Seminara, Stephanie B.

Publication type:

Article

Requiem for international medical graduates.

Published in:

2006

By:

Natarajan A;
Ravikumar B;
Natarajan, Arun;
Ravikumar, Balasubramanian

Publication type:

Editorial

Requiem for international medical graduates.

Published in:

2006

By:

Natarajan, Arun;
Ravikumar, Balasubramanian

Publication type:

Editorial

How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism.

Published in:

Human Genetics, 2023, v. 142, n. 11, p. 1611, doi. 10.1007/s00439-023-02601-w

By:

Xu, Wanxue;
Plummer, Lacey;
Seminara, Stephanie B.;
Balasubramanian, Ravikumar;
Lippincott, Margaret F.

Publication type:

Article

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 522, doi. 10.1093/brain/aws345

By:

Chew, Sheena;
Balasubramanian, Ravikumar;
Chan, Wai-Man;
Kang, Peter B.;
Andrews, Caroline;
Webb, Bryn D.;
MacKinnon, Sarah E.;
Oystreck, Darren T.;
Rankin, Jessica;
Crawford, Thomas O.;
Geraghty, Michael;
Pomeroy, Scott L.;
Crowley, William F.;
Jabs, Ethylin Wang;
Hunter, David G.;
Grant, Patricia E.;
Engle, Elizabeth C.

Publication type:

Article

Pioglitazone Decreases Fasting and Postprandial Endogenous Glucose Production in Proportion to Decrease in Hepatic Triglyceride Content.

Published in:

Diabetes, 2008, v. 57, n. 9, p. 2288, doi. 10.2337/db07-1828

By:

Ravikumar, Balasubramanian;
Gerrard, Jean;
Man, Chiara Dalla;
Firbank, Michael J.;
Lane, Annette;
English, Philip T.;
Cobelli, Claudio;
Taylor, Roy

Publication type:

Article

Combination Therapy with Pparα and Pparγ Agonists in Type 2 Diabetes Blunts the Reduction in Intra-Organ Triglyceride Content Seen with Pparγ Monotherapy.

Published in:

Diabetes, 2007, v. 56, p. A163

By:

Balasubramanian, Ravikumar;
Gerrard, Jean;
English, Philip T.;
Firbank, Michael F.;
Taylor, Roy

Publication type:

Article

Reproductive endocrine phenotypes relating to CHD7 mutations in humans.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 507, doi. 10.1002/ajmg.c.31585

By:

Balasubramanian, Ravikumar;
Crowley, William F.

Publication type:

Article

Signaling Role of Prokineticin 2 on the Estrous Cycle of Female Mice.

Published in:

PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090860

By:

Xiao, Ling;
Zhang, Chengkang;
Li, Xiaohan;
Gong, Shiaoching;
Hu, Renming;
Balasubramanian, Ravikumar;
Crowley W. Jr., William F.;
Hastings, Michael H.;
Zhou, Qun-Yong

Publication type:

Article

Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History.

Published in:

2019

By:

Dwyer, Andrew A;
Chavan, Niraj R;
Lewkowitz-Shpuntoff, Hilana;
Plummer, Lacey;
Hayes, Frances J;
Seminara, Stephanie B;
Crowley, William F;
Pitteloud, Nelly;
Balasubramanian, Ravikumar

Publication type:

journal article

Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 2, p. 338, doi. 10.1093/hmg/ddx404

By:

Cox, Kimberly H.;
Oliveira, Luciana M. B.;
Plummer, Lacey;
Corbin, Braden;
Gardella, Thomas;
Balasubramanian, Ravikumar;
Crowley, William F.

Publication type:

Article

An ancient founder mutation in PROKR2 impairs human reproduction.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4314, doi. 10.1093/hmg/dds264

By:

Avbelj Stefanija, Magdalena;
Jeanpierre, Marc;
Sykiotis, Gerasimos P.;
Young, Jacques;
Quinton, Richard;
Abreu, Ana Paula;
Plummer, Lacey;
Au, Margaret G.;
Balasubramanian, Ravikumar;
Dwyer, Andrew A.;
Florez, Jose C.;
Cheetham, Timothy;
Pearce, Simon H.;
Purushothaman, Radhika;
Schinzel, Albert;
Pugeat, Michel;
Jacobson-Dickman, Elka E.;
Ten, Svetlana;
Latronico, Ana Claudia;
Gusella, James F.

Publication type:

Article

Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 4, p. 1044, doi. 10.1210/clinem/dgae620

By:

Sun, Bang;
Stamou, Maria I;
Stockman, Sara L;
Campbell, Mark B;
Plummer, Lacey;
Salnikov, Kathryn B;
Kotan, Leman Damla;
Topaloglu, A Kemal;
Hisama, Fuki M;
Davis, Erica E;
Seminara, Stephanie B;
Balasubramanian, Ravikumar

Publication type:

Article

Polycystic Ovary Syndrome Physiologic Pathways Implicated Through Clustering of Genetic Loci.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 4, p. 968, doi. 10.1210/clinem/dgad664

By:

Stamou, Maria I;
Smith, Kirk T;
Kim, Hyunkyung;
Balasubramanian, Ravikumar;
Gray, Kathryn J;
Udler, Miriam S

Publication type:

Article

Reproductive Phenotypes and Genotypes in Men With IHH.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 4, p. 897, doi. 10.1210/clinem/dgac615

By:

Dwyer, Andrew A.;
Stamou, Maria I.;
Anghel, Ella;
Hornstein, Shira;
Chen, Danna;
Salnikov, Kathryn B.;
McDonald, Isabella R.;
Plummer, Lacey;
Seminara, Stephanie B.;
Balasubramanian, Ravikumar

Publication type:

Article

Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 8, p. 2228, doi. 10.1210/clinem/dgac300

By:

Stamou, Maria I.;
Brand, Harrison;
Mei Wang;
Wong, Isaac;
Lippincott, Margaret F.;
Plummer, Lacey;
Crowley, William F.;
Talkowski, Michael;
Seminara, Stephanie;
Balasubramanian, Ravikumar

Publication type:

Article

Kisspeptin Overcomes GnRH Neuronal Suppression Secondary to Hyperprolactinemia in Humans.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 8, p. e3515, doi. 10.1210/clinem/dgac166

By:

Hoskova, Katerina;
Bryant, Nora Kayton;
Chen, Margaret E.;
Nachtigall, Lisa B.;
Lippincott, Margaret F.;
Balasubramanian, Ravikumar;
Seminara, Stephanie B.

Publication type:

Article

A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator.

Published in:

2019

By:

Stamou, Maria;
Ng, Shi-Yan;
Brand, Harrison;
Wang, Harold;
Plummer, Lacey;
Best, Lyle;
Havlicek, Steven;
Hibberd, Martin;
Khor, Chiea Chuen;
Gusella, James;
Balasubramanian, Ravikumar;
Talkowski, Michael;
Stanton, Lawrence W;
Crowley, William F

Publication type:

journal article

Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2019, v. 104, n. 8, p. 3403, doi. 10.1210/jc.2018-02697

By:

Dwyer, Andrew A.;
Chavan, Niraj R.;
Lewkowitz-Shpuntoff, Hilana;
Plummer, Lacey;
Hayes, Frances J.;
Seminara, Stephanie B.;
Crowley Jr, William F.;
Pitteloud, Nelly;
Balasubramanian, Ravikumar

Publication type:

Article