Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

Warren van Loggerenberg; Shahin Sowlati-Hashjin; Jochen Weile; Rayna Hamilton; Aditya Chawla; Dayag Sheykhkarimli; Marinella Gebbia; Nishka Kishore; Laure Frésard; Sami Mustajoki; Elena Pischik; Elena Di Pierro; Michela Barbaro; Ylva Floderus; Caroline Schmitt; Laurent Gouya; Alexandre Colavin; Robert Nussbaum; Edith C.H. Friesema; Raili Kauppinen; Jordi To-Figueras; Aasne K. Aarsand; Robert J. Desnick; Michael Garton; Frederick P. Roth

doi:10.1016/j.ajhg.2023.08.012

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

Warren van Loggerenberg, Shahin Sowlati-Hashjin, Jochen Weile, Rayna Hamilton, Aditya Chawla, Dayag Sheykhkarimli, Marinella Gebbia, Nishka Kishore, Laure Frésard, Sami Mustajoki, Elena Pischik, Elena Di Pierro, Michela Barbaro, Ylva Floderus, Caroline Schmitt, Laurent Gouya, Alexandre Colavin, Robert Nussbaum, Edith C.H. Friesema, Raili KauppinenJordi To-Figueras, Aasne K. Aarsand, Robert J. Desnick, Michael Garton, Frederick P. Roth

SIST, Sisätaudit

Tutkimustuotos: Artikkeli › Tieteellinen › vertaisarvioitu

8 Sitaatiot (Scopus)

8 Lataukset (Pure)

Alkuperäiskieli	Englanti
Sivut	1769-1786
Julkaisu	Am J Hum Genet.
Vuosikerta	110
Numero	10
DOI - pysyväislinkit	https://doi.org/10.1016/j.ajhg.2023.08.012
Tila	Julkaistu - syysk. 2023
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä

Julkaisufoorumi-taso

Jufo-taso 3

Pääsy asiakirjaan

10.1016/j.ajhg.2023.08.012Lisenssi: CC BY

1-s2.0-S0002929723002884-main-1Final published version, 3,49 MBLisenssi: CC BY

https://urn.fi/URN:NBN:fi:tuni-2023120810557Lisenssi: CC BY

Siteeraa tätä

Loggerenberg, W. V., Sowlati-Hashjin, S., Weile, J., Hamilton, R., Chawla, A., Sheykhkarimli, D., Gebbia, M., Kishore, N., Frésard, L., Mustajoki, S., Pischik, E., Pierro, E. D., Barbaro, M., Floderus, Y., Schmitt, C., Gouya, L., Colavin, A., Nussbaum, R., Friesema, E. C. H., ... Roth, F. P. (2023). Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation. Am J Hum Genet., 110(10), 1769-1786. https://doi.org/10.1016/j.ajhg.2023.08.012

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title = "Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation",

author = "Loggerenberg, {Warren van} and Shahin Sowlati-Hashjin and Jochen Weile and Rayna Hamilton and Aditya Chawla and Dayag Sheykhkarimli and Marinella Gebbia and Nishka Kishore and Laure Fr{\'e}sard and Sami Mustajoki and Elena Pischik and Pierro, {Elena Di} and Michela Barbaro and Ylva Floderus and Caroline Schmitt and Laurent Gouya and Alexandre Colavin and Robert Nussbaum and Friesema, {Edith C.H.} and Raili Kauppinen and Jordi To-Figueras and Aarsand, {Aasne K.} and Desnick, {Robert J.} and Michael Garton and Roth, {Frederick P.}",

year = "2023",

month = sep,

doi = "10.1016/j.ajhg.2023.08.012",

language = "English",

volume = "110",

pages = "1769--1786",

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Loggerenberg, WV, Sowlati-Hashjin, S, Weile, J, Hamilton, R, Chawla, A, Sheykhkarimli, D, Gebbia, M, Kishore, N, Frésard, L, Mustajoki, S, Pischik, E, Pierro, ED, Barbaro, M, Floderus, Y, Schmitt, C, Gouya, L, Colavin, A, Nussbaum, R, Friesema, ECH, Kauppinen, R, To-Figueras, J, Aarsand, AK, Desnick, RJ, Garton, M & Roth, FP 2023, 'Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation', Am J Hum Genet., Vuosikerta 110, Nro 10, Sivut 1769-1786. https://doi.org/10.1016/j.ajhg.2023.08.012

TY - JOUR

T1 - Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

AU - Loggerenberg, Warren van

AU - Sowlati-Hashjin, Shahin

AU - Weile, Jochen

AU - Hamilton, Rayna

AU - Chawla, Aditya

AU - Sheykhkarimli, Dayag

AU - Gebbia, Marinella

AU - Kishore, Nishka

AU - Frésard, Laure

AU - Mustajoki, Sami

AU - Pischik, Elena

AU - Pierro, Elena Di

AU - Barbaro, Michela

AU - Floderus, Ylva

AU - Schmitt, Caroline

AU - Gouya, Laurent

AU - Colavin, Alexandre

AU - Nussbaum, Robert

AU - Friesema, Edith C.H.

AU - Kauppinen, Raili

AU - To-Figueras, Jordi

AU - Aarsand, Aasne K.

AU - Desnick, Robert J.

AU - Garton, Michael

AU - Roth, Frederick P.

PY - 2023/9

Y1 - 2023/9

U2 - 10.1016/j.ajhg.2023.08.012

DO - 10.1016/j.ajhg.2023.08.012

M3 - Article

SN - 0002-9297

VL - 110

SP - 1769

EP - 1786

JO - Am J Hum Genet.

JF - Am J Hum Genet.

IS - 10

ER -