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Is Part Of Human mutation. Volume 43:Issue 1(2022)

1. A family study implicates GBE1 in the etiology of autism spectrum disorder. Issue 1 (21st October 2021)

Authors:
Fanjul‐Fernández, Miriam; Brown, Natasha J.; Hickey, Peter; Diakumis, Peter; Rafehi, Haloom; Bozaoglu, Kiymet; Green, Cherie C.; Rattray, Audrey; Young, Savannah; Alhuzaimi, Dana; Mountford, Hayley S.; Gillies, Greta; Lukic, Vesna; Vick, Tanya; Finlay, Keri; Coe, Bradley P.; Eichler, Evan E.; Del...
Journal:
Human mutation
Issue:
Volume 43:Issue 1(2022)
Page Start:
16
Record Type:
Journal Article
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3. Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance. Issue 1 (15th November 2021)

Authors:
Nuovo, Sara; Baglioni, Valentina; De Mori, Roberta; Tardivo, Silvia; Caputi, Caterina; Ginevrino, Monia; Micalizzi, Alessia; Masuelli, Laura; Federici, Giulia; Casella, Antonella; Lorefice, Elisa; Anello, Danila; Tolve, Manuela; Farini, Donatella; Bertini, Enrico; Zanni, Ginevra; Travaglini, Lore...
Journal:
Human mutation
Issue:
Volume 43:Issue 1(2022)
Page Start:
67
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency. Issue 1 (2nd December 2021)

Authors:
Sehested, Astrid; Meade, Julia; Scheie, David; Østrup, Olga; Bertelsen, Birgitte; Misiakou, Maria Anna; Sarosiek, Tomasz; Kessler, Elena; Melchior, Linea C.; Munch‐Petersen, Helga Fibiger; Pai, Reetesh K.; Schmuth, Matthias; Gottschling, Hendrik; Zschocke, Johannes; Gallon, Richard; Wimmer, Katha...
Journal:
Human mutation
Issue:
Volume 43:Issue 1(2022)
Page Start:
85
Record Type:
Journal Article
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5. Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome. Issue 1 (11th October 2021)

Authors:
Nagai, Koki; Niihori, Tetsuya; Okamoto, Nobuhiko; Kondo, Akane; Suga, Kenichi; Ohhira, Tomoko; Hayabuchi, Yasunobu; Homma, Yukako; Nakagawa, Ryuji; Ifuku, Toshinobu; Abe, Taiki; Mizuguchi, Takeshi; Matsumoto, Naomichi; Aoki, Yoko
Journal:
Human mutation
Issue:
Volume 43:Issue 1(2022)
Page Start:
3
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. GGCX variants leading to biallelic deficiency to γ‐carboxylate GRP cause skin laxity in VKCFD1 patients. Issue 1 (2nd December 2021)

Authors:
Ghosh, Suvoshree; Kraus, Katrin; Biswas, Arijit; Müller, Jens; Forin, Francesco; Singer, Heike; Höning, Klara; Hornung, Veit; Watzka, Matthias; Oldenburg, Johannes; Czogalla‐Nitsche, Katrin J.
Journal:
Human mutation
Issue:
Volume 43:Issue 1(2022)
Page Start:
42
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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