Works matching IS 10597794 AND DT 2022 AND VI 43 AND IP 4

Results: 11

Machine learning models for accurate prioritization of variants of uncertain significance.
Published in:
Human Mutation, 2022, v. 43, n. 4, p. 449, doi. 10.1002/humu.24339
By:
- Mahecha, Daniel;
- Nuñez, Haydemar;
- Lattig, Maria C.;
- Duitama, Jorge
Publication type:
Article
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Published in:
Human Mutation, 2022, v. 43, n. 4, p. 511, doi. 10.1002/humu.24343
By:
- Waldrop, Megan A.;
- Moore, Steven A.;
- Mathews, Katherine D.;
- Darbro, Benjamin W.;
- Medne, Livja;
- Finkel, Richard;
- Connolly, Anne M.;
- Crawford, Thomas O.;
- Drachman, Daniel;
- Wein, Nicolas;
- Habib, Ali A.;
- Krzesniak‐Swinarska, Monika A.;
- Zaidman, Craig M.;
- Collins, James J.;
- Jokela, Manu;
- Udd, Bjarne;
- Day, John W.;
- Ortiz‐Guerrero, Gloria;
- Statland, Jeff;
- Butterfield, Russell J.
Publication type:
Article
In Memoriam: Haig H. Kazazian, Jr. (1937–2022).
Published in:
Human Mutation, 2022, v. 43, n. 4, p. 447, doi. 10.1002/humu.24344
Publication type:
Article
A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thrive.
Published in:
Human Mutation, 2022, v. 43, n. 4, p. 471, doi. 10.1002/humu.24337
By:
- Wang, Julia M.;
- Ho, Daniel V.;
- Kritzer, Amy;
- Chan, Jefferson Y.
Publication type:
Article
Qatar genome: Insights on genomics from the Middle East.
Published in:
Human Mutation, 2022, v. 43, n. 4, p. 499, doi. 10.1002/humu.24336
By:
- Mbarek, Hamdi;
- Devadoss Gandhi, Geethanjali;
- Selvaraj, Senthil;
- Al‐Muftah, Wadha;
- Badji, Radja;
- Al‐Sarraj, Yasser;
- Saad, Chadi;
- Darwish, Dima;
- Alvi, Muhammad;
- Fadl, Tasnim;
- Yasin, Heba;
- Alkuwari, Fatima;
- Razali, Rozaimi;
- Aamer, Waleed;
- Abbaszadeh, Fatemeh;
- Ahmed, Ikhlak;
- Mokrab, Younes;
- Suhre, Karsten;
- Albagha, Omar;
- Fakhro, Khalid
Publication type:
Article
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Published in:
Human Mutation, 2022, v. 43, n. 4, p. 487, doi. 10.1002/humu.24333
By:
- Natera‐de Benito, Daniel;
- Jurgens, Julie A.;
- Yeung, Alison;
- Zaharieva, Irina T.;
- Manzur, Adnan;
- DiTroia, Stephanie P.;
- Di Gioia, Silvio Alessandro;
- Pais, Lynn;
- Pini, Veronica;
- Barry, Brenda J.;
- Chan, Wai‐Man;
- Elder, James E.;
- Christodoulou, John;
- Hay, Eleanor;
- England, Eleina M.;
- Munot, Pinki;
- Hunter, David G.;
- Feng, Lucy;
- Ledoux, Danielle;
- O'Donnell‐Luria, Anne
Publication type:
Article
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Published in:
Human Mutation, 2022, v. 43, n. 4, p. 461, doi. 10.1002/humu.24332
By:
- Gofin, Yoel;
- Wang, Tianyun;
- Gillentine, Madelyn A.;
- Scott, Tiana M.;
- Berry, Aliska M.;
- Azamian, Mahshid S.;
- Genetti, Casie;
- Agrawal, Pankaj B.;
- Picker, Jonathan;
- Wojcik, Monica H.;
- Delgado, Mauricio R.;
- Lynch, Sally A.;
- Scherer, Stephen W.;
- Howe, Jennifer L.;
- Bacino, Carlos A.;
- DiTroia, Stephanie;
- VanNoy, Grace E.;
- O'Donnell‐Luria, Anne;
- Lalani, Seema R.;
- Graf, William D.
Publication type:
Article
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease.
Published in:
Human Mutation, 2022, v. 43, n. 4, p. 477, doi. 10.1002/humu.24338
By:
- Gangfuß, Andrea;
- Hentschel, Andreas;
- Rademacher, Nina;
- Sickmann, Albert;
- Stüve, Burkhard;
- Horvath, Rita;
- Gross, Claudia;
- Kohlschmidt, Nicolai;
- Förster, Fabian;
- Abicht, Angela;
- Schänzer, Anne;
- Schara‐Schmidt, Ulrike;
- Roos, Andreas;
- Della Marina, Adela
Publication type:
Article
Detection of revertant mosaicism in epidermolysis bullosa through Cas9‐targeted long‐read sequencing.
Published in:
Human Mutation, 2022, v. 43, n. 4, p. 529, doi. 10.1002/humu.24331
By:
- Natsuga, Ken;
- Furuta, Yoshikazu;
- Takashima, Shota;
- Nohara, Takuma;
- Kosumi, Hideyuki;
- Mai, Yosuke;
- Higashi, Hideaki;
- Ujiie, Hideyuki
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2022, v. 43, n. 4, p. 445, doi. 10.1002/humu.24226
Publication type:
Article
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion).
Published in:
Human Mutation, 2022, v. 43, n. 4, p. e1, doi. 10.1002/humu.24328
By:
- Ghaffari, Saeed R.;
- Rafati, Maryam;
- Shadnoush, Mahdi;
- Pourbabaee, Shokooh;
- Aghighi, Mohammad;
- Mirab Samiee, Siamak;
- Kermanchi, Jamshid;
- Alaei, Mohammad R.;
- Salehpour, Shadab;
- Amirkashani, Davoud;
- Setoodeh, Aria;
- Sarkhail, Peymaneh;
- Badv, Reza Shervin;
- Aminzadeh, Majid;
- Shiva, Siamak;
- Eshraghi, Peyman;
- Moravej, Hossein;
- Hashemipour, Mahin;
- Rostampour, Noushin;
- Hamidieh, َAmir Ali
Publication type:
Article