Publications:

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Natural History of Obesity Due to POMC, PCSK1, and LEPR Deficiency and the Impact of Setmelanotide.

Journal Of The Endocrine Society

Wabitsch, Martin M; Farooqi, Sadaf S; Flück, Christa E CE; Bratina, Natasa N; Mallya, Usha G UG; Stewart, Murray M; Garrison, Jill J; van den Akker, Erica E; Kühnen, Peter P

Publication Date: 2022-06-01

Variant appearance in text: LEPR: 1874G>A; Trp625*

PubMed Link: 35528826

Variant Present in the following documents:

• Main text
• bvac057.pdf

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: LEPR: W625X

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

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Leptin Receptor Compound Heterozygosity in Humans and Animal Models.

International Journal Of Molecular Sciences

Berger, Claudia C; Klöting, Nora N

Publication Date: 2021-04-25

Variant appearance in text: LEPR: 1874G>A

PubMed Link: 33922961

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: LEPR: 1874G>A

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Diagnostic and therapeutic odyssey of two patients with compound heterozygous leptin receptor deficiency.

Molecular And Cellular Pediatrics

Zorn, Stefanie S; von Schnurbein, Julia J; Kohlsdorf, Katja K; Denzer, Christian C; Wabitsch, Martin M

Publication Date: 2020-11-03

Variant appearance in text: LEPR: 1874G>A; Trp625*

PubMed Link: 33140236

Variant Present in the following documents:

• Main text
• 40348_2020_Article_107.pdf

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Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations.

Journal Of The Endocrine Society

Nunziata, Adriana A; Funcke, Jan-Bernd JB; Borck, Guntram G; von Schnurbein, Julia J; Brandt, Stephanie S; Lennerz, Belinda B; Moepps, Barbara B; Gierschik, Peter P; Fischer-Posovszky, Pamela P; Wabitsch, Martin M

Publication Date: 2019-01-01

Variant appearance in text: LEPR: 1874G>A; W625*

PubMed Link: 30560226

Variant Present in the following documents:

• Main text
• js.2018-00123.pdf

View BVdb publication page

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