Volume 141, Issue 11

Search all Human Genetics articles

November 2022

9 articles in this issue

The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review
Judit Kumuthini
Brittany Zick
Marc Abramowicz
Review Open access 30 April 2022 Pages: 1697 - 1704
Evolutionary history of type II transmembrane serine proteases involved in viral priming
Diego Forni
Manuela Sironi
Rachele Cagliani
Original Investigation 05 February 2022 Pages: 1705 - 1722
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
Hedwig M. Velde
Janine Reurink
Ronald J. E. Pennings
Original Investigation Open access 28 February 2022 Pages: 1723 - 1738
Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid
Jacqueline A. Piekos
Jacklyn N. Hellwege
Digna R. Velez Edwards
Original Investigation 28 February 2022 Pages: 1739 - 1748
Predicting genes from phenotypes using human phenotype ontology (HPO) terms
Anne Slavotinek
Hannah Prasad
Mark Kvale
Original Investigation 31 March 2022 Pages: 1749 - 1760
Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene
Carol J. Gallione
Matthew R. Detter
Douglas A. Marchuk
Original Investigation 30 April 2022 Pages: 1761 - 1769
Monogenic causes of pigmentary mosaicism
Ken Saida
Pin Fee Chong
Naomichi Matsumoto
Original Investigation 03 May 2022 Pages: 1771 - 1784
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4
Heidemarie Neitzel
Raymonda Varon
Karl Sperling
Original Investigation Open access 10 May 2022 Pages: 1785 - 1794
Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans
Huan Wu
Xin Zhang
Mingxi Liu
Original Investigation 19 May 2022 Pages: 1795 - 1809

Volume 141, Issue 11

The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review

Evolutionary history of type II transmembrane serine proteases involved in viral priming

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid

Predicting genes from phenotypes using human phenotype ontology (HPO) terms

Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene

Monogenic causes of pigmentary mosaicism

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4

Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans

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