Works matching IS 15524868 AND DT 2022 AND VI 190 AND IP 2

Results: 17

Special issue: Newborn screening research.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 135, doi. 10.1002/ajmg.c.32007

By:

Brower, Amy;
Chan, Kee

Publication type:

Article

Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 243, doi. 10.1002/ajmg.c.32005

By:

Kingsmore, Stephen F.

Publication type:

Article

Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 187, doi. 10.1002/ajmg.c.32003

By:

Elkins, Kathryn;
Wittenauer, Angela;
Hagar, Arthur F.;
Logan, Rachel;
Sekul, Elizabeth;
Xiang, Yijin;
Verma, Sumit;
Wilcox, William R.

Publication type:

Article

Can we identify WHIM in infancy? Opportunities with the public newborn screening process.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 215, doi. 10.1002/ajmg.c.32002

By:

Yilmaz, Melis;
Potts, David Evan;
Geier, Christoph;
Walter, Jolan E.

Publication type:

Article

Newborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade‐long experience.

Published in:: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 156, doi. 10.1002/ajmg.c.32001
Publication type:: Article

Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 197, doi. 10.1002/ajmg.c.32000

By:

Gruber, Dorota;
Lloyd‐Puryear, Michele;
Armstrong, Niki;
Scavina, Mena;
Tavakoli, Norma P.;
Brower, Amy M.;
Caggana, Michele;
Chung, Wendy K.

Publication type:

Article

Newborn screening for Fabry disease in Oregon: Approaching the iceberg of A143T and variants of uncertain significance.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 206, doi. 10.1002/ajmg.c.31998

By:

Viall, Sarah;
Dennis, Anna;
Yang, Amy

Publication type:

Article

Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 138, doi. 10.1002/ajmg.c.31997

By:

Minear, Mollie A.;
Phillips, Megan N.;
Kau, Alice;
Parisi, Melissa A.

Publication type:

Article

Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post‐analytical tools.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 178, doi. 10.1002/ajmg.c.31996

By:

Hall, Patricia Liane;
Wittenauer, Angela Lynn;
Wilcox, William Ross

Publication type:

Article

Why must the debate continue on Krabbe disease newborn screening?

Published in:: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 153, doi. 10.1002/ajmg.c.31994
Publication type:: Article

Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 162, doi. 10.1002/ajmg.c.31993

By:

Armstrong, Niki;
Schrader, Rachel;
Fischer, Ryan;
Crossnohere, Norah

Publication type:

Article

Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed‐methods study.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 169, doi. 10.1002/ajmg.c.31992

By:

Crossnohere, Norah L.;
Armstrong, Niki;
Fischer, Ryan;
Bridges, John F. P.

Publication type:

Article

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 231, doi. 10.1002/ajmg.c.31989

By:

Dhombres, Ferdinand;
Morgan, Patricia;
Chaudhari, Bimal P.;
Filges, Isabel;
Sparks, Teresa N.;
Lapunzina, Pablo;
Roscioli, Tony;
Agarwal, Umber;
Aggarwal, Shagun;
Beneteau, Claire;
Cacheiro, Pilar;
Carmody, Leigh C.;
Collardeau‐Frachon, Sophie;
Dempsey, Esther A.;
Dufke, Andreas;
Duyzend, Michael Henri;
el Ghosh, Mirna;
Giordano, Jessica L.;
Glad, Ragnhild;
Grinfelde, Ieva

Publication type:

Article

Newborn screening for neurodevelopmental diseases: Are we there yet?

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 222, doi. 10.1002/ajmg.c.31988

By:

Chung, Wendy K.;
Berg, Jonathan S.;
Botkin, Jeffrey R.;
Brenner, Steven E.;
Brosco, Jeffrey P.;
Brothers, Kyle B.;
Currier, Robert J.;
Gaviglio, Amy;
Kowtoniuk, Walter E.;
Olson, Colleen;
Lloyd‐Puryear, Michele;
Saarinen, Annamarie;
Sahin, Mustafa;
Shen, Yufeng;
Sherr, Elliott H.;
Watson, Michael S.;
Hu, Zhanzhi

Publication type:

Article

Cover Image, Volume 190, Number 2, June 2022.

Published in:: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. i, doi. 10.1002/ajmg.c.31923
Publication type:: Article

Publication schedule for 2022.

Published in:: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 133, doi. 10.1002/ajmg.c.31922
Publication type:: Article

Table of Contents, Volume 190, Number 2, June 2022.

Published in:: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 131, doi. 10.1002/ajmg.c.31921
Publication type:: Article