Stephanie B Seminara

Affiliations

Harvard Reproductive Sciences Center, The Reproductive Endocrine Unit and The Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.

Publications (26)

Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Rebecca A Rojas , Anna A Kutateladze , Lacey Plummer , Maria Stamou , David L Keefe , Kathyrn B Salnikov , Angela Delaney , Janet E Hall , Ruslan Sadreyev , Fei Ji , Eric Fliers , Katarina Gambosova , Richard Quinton , Paulina M Merino , Veronica Mericq , Stephanie B Seminara , William F Crowley , Ravikumar Balasubramanian

Frontiers in endocrinology

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

Paediatric and adult-onset male hypogonadism.

Nature reviews. Disease primers

Avec: Andrea Salonia , Giulia Rastrelli , Geoffrey Hackett , Stephanie B Seminara , Ilpo T Huhtaniemi , Rodolfo A Rey , Wayne J G Hellstrom , Mark R Palmert , Giovanni Corona , Gert R Dohle , Mohit Khera , Yee-Ming Chan , Mario Maggi

Tachykinin Signaling Is Required for Induction of the Preovulatory Luteinizing Hormone Surge and Normal Luteinizing Hormone Pulses.

Neuroendocrinology

Avec: Silvia León , Chrysanthi Fergani , Rajae Talbi , Caroline A Maguire , Achi Gerutshang , Stephanie B Seminara , Victor M Navarro

Safety Evaluation of KP-10 (Metastin 45-54) Following once Daily Intravenous Administration for 14 Days in Dog.

International journal of toxicology

Avec: Pramod S Terse , James Peggins , Stephanie B Seminara

Review of human genetic and clinical studies directly relevant to GnRH signalling.

Journal of neuroendocrinology

Avec: Stephanie B Seminara , A Kemal Topaloglu

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

Frontiers in endocrinology

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

Contributions of common genetic variants to constitutional delay of puberty and idiopathic hypogonadotropic hypogonadism.

The Journal of clinical endocrinology and metabolism

Avec: Margaret F Lippincott , Evan C Schafer , Anna A Hindman , Wen He , Raja Brauner , Angela Delaney , Romina Grinspon , Janet E Hall , Joel N Hirschhorn , Kenneth McElreavey , Mark R Palmert , Rodolfo Rey , Stephanie B Seminara , Rany M Salem , Yee-Ming Chan , Auteur inconnu

Hypogonadotropic hypogonadism due to variants in

Cold Spring Harbor molecular case studies

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

Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.

The Journal of clinical endocrinology and metabolism

Avec: Angela Delaney , Adam B Burkholder , Christopher A Lavender , Lacey Plummer , Veronica Mericq , Paulina M Merino , Richard Quinton , Katie L Lewis , Brooke N Meader , Alessandro Albano , Natalie D Shaw , Corrine K Welt , Kathryn A Martin , Stephanie B Seminara , Leslie G Biesecker , Joan E Bailey-Wilson , Janet E Hall

Using Kisspeptin to Predict Pubertal Outcomes for Youth With Pubertal Delay.

The Journal of clinical endocrinology and metabolism

Avec: Yee-Ming Chan , Margaret F Lippincott , Priscila Sales Barroso , Cielo Alleyn , Jill Brodsky , Hector Granados , Stephanie A Roberts , Courtney Sandler , Abhinash Srivatsa , Stephanie B Seminara

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

The Journal of clinical endocrinology and metabolism

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

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

Journal of genetic counseling

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

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

Human genetics

Avec: Wanxue Xu , Lacey Plummer , Stephanie B Seminara , Ravikumar Balasubramanian , Margaret F Lippincott

Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms.

JCI insight

Avec: Jessica Cassin , Maria I Stamou , Kimberly W Keefe , Kaitlin E Sung , Celine C Bojo , Karen J Tonsfeldt , Rebecca A Rojas , Vanessa Ferreira Lopes , Lacey Plummer , Kathryn B Salnikov , David L Keefe , Metin Ozata , Myron Genel , Neoklis A Georgopoulos , Janet E Hall , William F Crowley , Stephanie B Seminara , Pamela L Mellon , Ravikumar Balasubramanian

Classes and predictors of reversal in male patients with congenital hypogonadotropic hypogonadism: a cross-sectional study of six international referral centres.

The lancet. Diabetes & endocrinology

Avec: Andrew A Dwyer , Isabella R McDonald , Biagio Cangiano , Luca Giovanelli , Luigi Maione , Leticia F G Silveira , Taneli Raivio , Ana Claudia Latronico , Jacques Young , Richard Quinton , Marco Bonomi , Luca Persani , Stephanie B Seminara , Christopher S Lee

Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With

Journal of the Endocrine Society

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

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

The Journal of clinical endocrinology and metabolism

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

Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling.

The Journal of clinical endocrinology and metabolism

Avec: Margaret F Lippincott , Silvia León , Yee-Ming Chan , Chrysanthi Fergani , Rajae Talbi , I Sadaf Farooqi , Christopher M Jones , Wiebke Arlt , Susan E Stewart , Trevor R Cole , Ei Terasawa , Janet E Hall , Natalie D Shaw , Victor M Navarro , Stephanie Beth Seminara

Role of Kisspeptin and NKB in Puberty in Nonhuman Primates: Sex Differences.

Seminars in reproductive medicine

Avec: James P Garcia , Kim L Keen , Stephanie B Seminara , Ei Terasawa

Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.

The Journal of clinical endocrinology and metabolism

Avec: Angela Delaney , Rita Volochayev , Brooke Meader , Janice Lee , Konstantinia Almpani , Germaine Y Noukelak , Jennifer Henkind , Laura Chalmers , Jennifer R Law , Kathleen A Williamson , Christina M Jacobsen , Tatiana Pineda Buitrago , Orlando Perez , Chie-Hee Cho , Angela Kaindl , Anita Rauch , Katharina Steindl , Jose Elias Garcia , Bianca E Russell , Rameshwar Prasad , Uttam K Mondal , Hallvard M Reigstad , Scott Clements , Susan Kim , Kaoru Inoue , Gazal Arora , Kathryn B Salnikov , Nicole P DiOrio , Rolando Prada , Yline Capri , Kosuke Morioka , Michiyo Mizota , Roseli M Zechi-Ceide , Nancy M Kokitsu-Nakata , Cristiano Tonello , Siulan Vendramini-Pittoli , Gisele da Silva Dalben , Ravikumar Balasubramanian , Andrew A Dwyer , Stephanie B Seminara , William F Crowley , Lacey Plummer , Janet E Hall , John M Graham , Angela E Lin , Natalie D Shaw

Kisspeptin deficiency leads to abnormal adrenal glands and excess steroid hormone secretion.

Human molecular genetics

Avec: Annabel Berthon , Nikolaos Settas , Angela Delaney , Andreas Giannakou , Andrew Demidowich , Fabio R Faucz , Stephanie B Seminara , Margaret E Chen , Constantine A Stratakis

Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum.

medRxiv : the preprint server for health sciences

Avec: Samvida S Venkatesh , Laura B L Wittemans , Duncan S Palmer , Nikolas A Baya , Teresa Ferreira , Barney Hill , Frederik Heymann Lassen , Melody J Parker , Saskia Reibe , Ahmed Elhakeem , Karina Banasik , Mie T Bruun , Christian Erikstrup , Bitten A Jensen , Anders Juul , Christina Mikkelsen , Henriette S Nielsen , Sisse R Ostrowski , Ole B Pedersen , Palle D Rohde , Erik Sorensen , Henrik Ullum , David Westergaard , Asgeir Haraldsson , Hilma Holm , Ingileif Jonsdottir , Isleifur Olafsson , Thora Steingrimsdottir , Valgerdur Steinthorsdottir , Gudmar Thorleifsson , Jessica Figueredo , Minna K Karjalainen , Anu Pasanen , Benjamin M Jacobs , Nikki Hubers , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Margaret Lippincott , Abigail Fraser , Deborah A Lawlor , Nicholas J Timpson , Mette Nyegaard , Kari Stefansson , Reedik Magi , Hannele Laivuori , David A van Heel , Dorret I Boomsma , Ravikumar Balasubramanian , Stephanie B Seminara , Yee-Ming Chan , Triin Laisk , Cecilia M Lindgren

Reproductive Phenotypes and Genotypes in Men With IHH.

The Journal of clinical endocrinology and metabolism

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

The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Margaret F Lippincott , Wanxue Xu , Abigail A Smith , Xinyu Miao , Agathe Lafont , Omar Shennib , Gordon J Farley , Riwa Sabbagh , Angela Delaney , Maria Stamou , Lacey Plummer , Kathryn Salnikov , Neoklis A Georgopoulos , Veronica Mericq , Richard Quinton , Frederic Tran Mau-Them , Sophie Nambot , Asma Hamad , Helen Brittain , Rebecca S Tooze , Eduardo Calpena , Andrew O M Wilkie , Marjolaine Willems , William F Crowley , Ravikumar Balasubramanian , Nathalie Lamarche-Vane , Erica E Davis , Stephanie B Seminara

DLG2 variants in patients with pubertal disorders.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Youn Hee Jee , Sehoon Won , Julian C Lui , Melissa Jennings , Philip Whalen , Shanna Yue , Adrian G Temnycky , Kevin M Barnes , Tim Cheetham , Matthew G Boden , Sally Radovick , Richard Quinton , Ellen W Leschek , Greti Aguilera , Jack A Yanovski , Stephanie B Seminara , William F Crowley , Angela Delaney , Katherine W Roche , Jeffrey Baron

Réseau de co-auteurs

Ravikumar Balasubramanian 14 collaborations

Lacey Plummer 13 collaborations

Angela Delaney 7 collaborations

William F Crowley 7 collaborations

Margaret F Lippincott 7 collaborations

Janet E Hall 6 collaborations

Richard Quinton 6 collaborations

Andrew A Dwyer 6 collaborations

Kathryn B Salnikov 6 collaborations

None None 6 collaborations

Yee-Ming Chan 5 collaborations

Maria Stamou 4 collaborations

Maria I Stamou 4 collaborations

Veronica Mericq 3 collaborations

A Kemal Topaloglu 3 collaborations

Isabella R McDonald 3 collaborations

Wanxue Xu 3 collaborations

Natalie D Shaw 3 collaborations

Rebecca A Rojas 2 collaborations

David L Keefe 2 collaborations

Paulina M Merino 2 collaborations

Leman Damla Kotan 2 collaborations

Mark R Palmert 2 collaborations

Silvia León 2 collaborations

Chrysanthi Fergani 2 collaborations

Rajae Talbi 2 collaborations

Victor M Navarro 2 collaborations

Ella Anghel 2 collaborations

Vanessa Ferreira Lopes 2 collaborations

Neoklis A Georgopoulos 2 collaborations

Erica E Davis 2 collaborations

Ei Terasawa 2 collaborations

Anna A Kutateladze 1 collaboration

Kathyrn B Salnikov 1 collaboration

Ruslan Sadreyev 1 collaboration

Fei Ji 1 collaboration

Eric Fliers 1 collaboration

Katarina Gambosova 1 collaboration

Hyun-Ju Cho 1 collaboration

Fatih Gurbuz 1 collaboration

Stephen Matthew Farmer 1 collaboration

Sule Can 1 collaboration

Miranda Faith Tompkins 1 collaboration

Jamala Mammadova 1 collaboration

S Ayca Altincik 1 collaboration

Cumali Gokce 1 collaboration

Gonul Catli 1 collaboration

Fuat Bugrul 1 collaboration

Keenan Bartlett 1 collaboration

Ihsan Turan 1 collaboration

Bilgin Yuksel 1 collaboration

Susan Wray 1 collaboration

Andrea Salonia 1 collaboration

Giulia Rastrelli 1 collaboration

Geoffrey Hackett 1 collaboration

Ilpo T Huhtaniemi 1 collaboration

Rodolfo A Rey 1 collaboration

Wayne J G Hellstrom 1 collaboration

Giovanni Corona 1 collaboration

Gert R Dohle 1 collaboration

Mohit Khera 1 collaboration

Mario Maggi 1 collaboration

Caroline A Maguire 1 collaboration

Achi Gerutshang 1 collaboration

Pramod S Terse 1 collaboration

James Peggins 1 collaboration

Kimberly H Cox 1 collaboration

Evan C Schafer 1 collaboration

Anna A Hindman 1 collaboration

Wen He 1 collaboration

Raja Brauner 1 collaboration

Romina Grinspon 1 collaboration

Joel N Hirschhorn 1 collaboration

Kenneth McElreavey 1 collaboration

Rodolfo Rey 1 collaboration

Rany M Salem 1 collaboration

Francesca Swords 1 collaboration

Adam B Burkholder 1 collaboration

Christopher A Lavender 1 collaboration

Katie L Lewis 1 collaboration

Brooke N Meader 1 collaboration

Alessandro Albano 1 collaboration

Corrine K Welt 1 collaboration

Kathryn A Martin 1 collaboration

Leslie G Biesecker 1 collaboration

Joan E Bailey-Wilson 1 collaboration

Priscila Sales Barroso 1 collaboration

Cielo Alleyn 1 collaboration

Jill Brodsky 1 collaboration

Hector Granados 1 collaboration

Stephanie A Roberts 1 collaboration

Courtney Sandler 1 collaboration

Abhinash Srivatsa 1 collaboration

Niraj R Chavan 1 collaboration

Hilana Lewkowitz-Shpuntoff 1 collaboration

Frances J Hayes 1 collaboration

Nelly Pitteloud 1 collaboration

Margaret G Au 1 collaboration

Neil Smith 1 collaboration

Jessica Cassin 1 collaboration

Kimberly W Keefe 1 collaboration

Kaitlin E Sung 1 collaboration

Celine C Bojo 1 collaboration

Karen J Tonsfeldt 1 collaboration

Metin Ozata 1 collaboration

Myron Genel 1 collaboration

Pamela L Mellon 1 collaboration

Biagio Cangiano 1 collaboration

Luca Giovanelli 1 collaboration

Luigi Maione 1 collaboration

Leticia F G Silveira 1 collaboration

Taneli Raivio 1 collaboration

Ana Claudia Latronico 1 collaboration

Jacques Young 1 collaboration

Marco Bonomi 1 collaboration

Luca Persani 1 collaboration

Christopher S Lee 1 collaboration

Crystal J Chiu 1 collaboration

Shreya V Jadhav 1 collaboration

Hang Lee 1 collaboration

Bang Sun 1 collaboration

Sara L Stockman 1 collaboration

Mark B Campbell 1 collaboration

Fuki M Hisama 1 collaboration

I Sadaf Farooqi 1 collaboration

Christopher M Jones 1 collaboration

Wiebke Arlt 1 collaboration

Susan E Stewart 1 collaboration

Trevor R Cole 1 collaboration

Stephanie Beth Seminara 1 collaboration

James P Garcia 1 collaboration

Kim L Keen 1 collaboration

Rita Volochayev 1 collaboration

Brooke Meader 1 collaboration

Janice Lee 1 collaboration

Konstantinia Almpani 1 collaboration

Germaine Y Noukelak 1 collaboration

Jennifer Henkind 1 collaboration

Laura Chalmers 1 collaboration

Jennifer R Law 1 collaboration

Kathleen A Williamson 1 collaboration

Christina M Jacobsen 1 collaboration

Tatiana Pineda Buitrago 1 collaboration

Orlando Perez 1 collaboration

Chie-Hee Cho 1 collaboration

Angela Kaindl 1 collaboration

Anita Rauch 1 collaboration

Katharina Steindl 1 collaboration

Jose Elias Garcia 1 collaboration

Bianca E Russell 1 collaboration

Rameshwar Prasad 1 collaboration

Uttam K Mondal 1 collaboration

Hallvard M Reigstad 1 collaboration

Scott Clements 1 collaboration

Susan Kim 1 collaboration

Kaoru Inoue 1 collaboration

Gazal Arora 1 collaboration

Nicole P DiOrio 1 collaboration

Rolando Prada 1 collaboration

Yline Capri 1 collaboration

Kosuke Morioka 1 collaboration

Michiyo Mizota 1 collaboration

Roseli M Zechi-Ceide 1 collaboration

Nancy M Kokitsu-Nakata 1 collaboration

Cristiano Tonello 1 collaboration

Siulan Vendramini-Pittoli 1 collaboration

Gisele da Silva Dalben 1 collaboration

John M Graham 1 collaboration

Angela E Lin 1 collaboration

Annabel Berthon 1 collaboration

Nikolaos Settas 1 collaboration

Andreas Giannakou 1 collaboration

Andrew Demidowich 1 collaboration

Fabio R Faucz 1 collaboration

Margaret E Chen 1 collaboration

Constantine A Stratakis 1 collaboration

Samvida S Venkatesh 1 collaboration

Laura B L Wittemans 1 collaboration

Duncan S Palmer 1 collaboration

Nikolas A Baya 1 collaboration

Teresa Ferreira 1 collaboration

Barney Hill 1 collaboration

Frederik Heymann Lassen 1 collaboration

Melody J Parker 1 collaboration

Saskia Reibe 1 collaboration

Ahmed Elhakeem 1 collaboration

Karina Banasik 1 collaboration

Mie T Bruun 1 collaboration

Christian Erikstrup 1 collaboration

Bitten A Jensen 1 collaboration

Anders Juul 1 collaboration

Christina Mikkelsen 1 collaboration

Henriette S Nielsen 1 collaboration

Sisse R Ostrowski 1 collaboration

Ole B Pedersen 1 collaboration

Palle D Rohde 1 collaboration

Erik Sorensen 1 collaboration

Henrik Ullum 1 collaboration

David Westergaard 1 collaboration

Asgeir Haraldsson 1 collaboration

Hilma Holm 1 collaboration

Ingileif Jonsdottir 1 collaboration

Isleifur Olafsson 1 collaboration

Thora Steingrimsdottir 1 collaboration

Valgerdur Steinthorsdottir 1 collaboration

Gudmar Thorleifsson 1 collaboration

Jessica Figueredo 1 collaboration

Minna K Karjalainen 1 collaboration

Anu Pasanen 1 collaboration

Benjamin M Jacobs 1 collaboration

Nikki Hubers 1 collaboration

Margaret Lippincott 1 collaboration

Abigail Fraser 1 collaboration

Deborah A Lawlor 1 collaboration

Nicholas J Timpson 1 collaboration

Mette Nyegaard 1 collaboration

Kari Stefansson 1 collaboration

Reedik Magi 1 collaboration

Hannele Laivuori 1 collaboration

David A van Heel 1 collaboration

Dorret I Boomsma 1 collaboration

Triin Laisk 1 collaboration

Cecilia M Lindgren 1 collaboration

Shira Hornstein 1 collaboration

Danna Chen 1 collaboration

Abigail A Smith 1 collaboration

Xinyu Miao 1 collaboration

Agathe Lafont 1 collaboration

Omar Shennib 1 collaboration

Gordon J Farley 1 collaboration

Riwa Sabbagh 1 collaboration

Kathryn Salnikov 1 collaboration

Frederic Tran Mau-Them 1 collaboration

Sophie Nambot 1 collaboration

Asma Hamad 1 collaboration

Helen Brittain 1 collaboration

Rebecca S Tooze 1 collaboration

Eduardo Calpena 1 collaboration

Andrew O M Wilkie 1 collaboration

Marjolaine Willems 1 collaboration

Nathalie Lamarche-Vane 1 collaboration

Youn Hee Jee 1 collaboration

Sehoon Won 1 collaboration

Julian C Lui 1 collaboration

Melissa Jennings 1 collaboration

Philip Whalen 1 collaboration

Shanna Yue 1 collaboration

Adrian G Temnycky 1 collaboration

Kevin M Barnes 1 collaboration

Tim Cheetham 1 collaboration

Matthew G Boden 1 collaboration

Sally Radovick 1 collaboration

Ellen W Leschek 1 collaboration

Greti Aguilera 1 collaboration

Jack A Yanovski 1 collaboration

Katherine W Roche 1 collaboration

Jeffrey Baron 1 collaboration