Works matching IS 03406717 AND DT 2021 AND VI 140 AND IP 12

Results: 11

WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.
Published in:
Human Genetics, 2021, v. 140, n. 12, p. 1775, doi. 10.1007/s00439-021-02384-y
By:
- Sorokina, Elena A.;
- Reis, Linda M.;
- Thompson, Samuel;
- Agre, Katherine;
- Babovic-Vuksanovic, Dusica;
- Ellingson, Marissa S.;
- Hasadsri, Linda;
- van Bever, Yolande;
- Semina, Elena V.
Publication type:
Article
The population genetics characteristics of a 90 locus panel of microhaplotypes.
Published in:
Human Genetics, 2021, v. 140, n. 12, p. 1753, doi. 10.1007/s00439-021-02382-0
By:
- Pakstis, Andrew J.;
- Gandotra, Neeru;
- Speed, William C.;
- Murtha, Michael;
- Scharfe, Curt;
- Kidd, Kenneth K.
Publication type:
Article
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.
Published in:
Human Genetics, 2021, v. 140, n. 12, p. 1733, doi. 10.1007/s00439-021-02380-2
By:
- Ullah, Farid;
- Rauf, Waqar;
- Khan, Kamal;
- Khan, Sheraz;
- Bell, Katrina M.;
- de Oliveira, Vanessa Cristina;
- Tariq, Muhammad;
- Bakhshalizadeh, Shabnam;
- Touraine, Philippe;
- Katsanis, Nicholas;
- Sinclair, Andrew;
- He, Sijie;
- Tucker, Elena J.;
- Baig, Shahid M.;
- Davis, Erica E.
Publication type:
Article
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Published in:
Human Genetics, 2021, v. 140, n. 12, p. 1709, doi. 10.1007/s00439-021-02379-9
By:
- Whitman, Mary C.;
- Barry, Brenda J.;
- Robson, Caroline D.;
- Facio, Flavia M.;
- Van Ryzin, Carol;
- Chan, Wai-Man;
- Lehky, Tanya J.;
- Thurm, Audrey;
- Zalewski, Christopher;
- King, Kelly A.;
- Brewer, Carmen;
- Almpani, Konstantinia;
- Lee, Janice S.;
- Delaney, Angela;
- FitzGibbon, Edmond J.;
- Lee, Paul R.;
- Toro, Camilo;
- Paul, Scott M.;
- Abdul-Rahman, Omar A.;
- Webb, Bryn D.
Publication type:
Article
Patient and public preferences for being recontacted with updated genomic results: a mixed methods study.
Published in:
Human Genetics, 2021, v. 140, n. 12, p. 1695, doi. 10.1007/s00439-021-02366-0
By:
- Mighton, Chloe;
- Clausen, Marc;
- Sebastian, Agnes;
- Muir, Sarah M.;
- Shickh, Salma;
- Baxter, Nancy N.;
- Scheer, Adena;
- Glogowski, Emily;
- Schrader, Kasmintan A.;
- Thorpe, Kevin E.;
- Kim, Theresa H. M.;
- Lerner-Ellis, Jordan;
- Kim, Raymond H.;
- Regier, Dean A.;
- Bayoumi, Ahmed M.;
- Bombard, Yvonne
Publication type:
Article
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions.
Published in:
Human Genetics, 2021, v. 140, n. 12, p. 1635, doi. 10.1007/s00439-021-02363-3
By:
- Kehrer-Sawatzki, Hildegard;
- Cooper, David N.
Publication type:
Article
ATR-X syndrome: genetics, clinical spectrum, and management.
Published in:
Human Genetics, 2021, v. 140, n. 12, p. 1625, doi. 10.1007/s00439-021-02361-5
By:
- León, Nayla Y.;
- Harley, Vincent R.
Publication type:
Article
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
Published in:
Human Genetics, 2021, v. 140, n. 12, p. 1665, doi. 10.1007/s00439-021-02343-7
By:
- Perea-Romero, I.;
- Blanco-Kelly, F.;
- Sanchez-Navarro, I.;
- Lorda-Sanchez, I.;
- Tahsin-Swafiri, S.;
- Avila-Fernandez, A.;
- Martin-Merida, I.;
- Trujillo-Tiebas, M. J.;
- Lopez-Rodriguez, R.;
- Rodriguez de Alba, M.;
- Iancu, I. F.;
- Romero, R.;
- Quinodoz, M.;
- Hakonarson, H.;
- Garcia-Sandova, Blanca;
- Minguez, P.;
- Corton, M.;
- Rivolta, C.;
- Ayuso, C.
Publication type:
Article
Correction to: Novel loci and mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys.
Published in:
2021
By:
- Vicuña, Lucas;
- Norambuena, Tomás;
- Miranda, José Patricio;
- Pereira, Ana;
- Mericq, Veronica;
- Ongaro, Linda;
- Montinaro, Francesco;
- Santos, José L.;
- Eyheramendy, Susana
Publication type:
Correction Notice
Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys.
Published in:
Human Genetics, 2021, v. 140, n. 12, p. 1651, doi. 10.1007/s00439-021-02290-3
By:
- Vicuña, Lucas;
- Norambuena, Tomás;
- Miranda, José Patricio;
- Pereira, Ana;
- Mericq, Veronica;
- Ongaro, Linda;
- Montinaro, Francesco;
- Santos, José L.;
- Eyheramendy, Susana
Publication type:
Article
Biallelic variants in YRDC cause a developmental disorder with progeroid features.
Published in:
Human Genetics, 2021, v. 140, n. 12, p. 1679, doi. 10.1007/s00439-021-02347-3
By:
- Schmidt, Julia;
- Goergens, Jonas;
- Pochechueva, Tatiana;
- Kotter, Annika;
- Schwenzer, Niko;
- Sitte, Maren;
- Werner, Gesa;
- Altmüller, Janine;
- Thiele, Holger;
- Nürnberg, Peter;
- Isensee, Jörg;
- Li, Yun;
- Müller, Christian;
- Leube, Barbara;
- Reinhardt, H. Christian;
- Hucho, Tim;
- Salinas, Gabriela;
- Helm, Mark;
- Jachimowicz, Ron D.;
- Wieczorek, Dagmar
Publication type:
Article