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Author/Creator Kircher, Martin

2. Mutations in the translocon‐associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation. Issue 5 (16th April 2019)

Authors:
Ng, Bobby G.; Lourenço, Charles M.; Losfeld, Marie‐Estelle; Buckingham, Kati J.; Kircher, Martin; Nickerson, Deborah A.; Shendure, Jay; Bamshad, Michael J.; Freeze, Hudson H.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 5(2019)
Page Start:
993
Record Type:
Journal Article
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3. SRD5A3‐CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. Issue 12 (2nd August 2016)

Authors:
Wheeler, Patricia G.; Ng, Bobby G.; Sanford, Laura; Sutton, V. Reid; Bartholomew, Dennis W.; Pastore, Matthew T.; Bamshad, Michael J.; Kircher, Martin; Buckingham, Kati J.; Nickerson, Deborah A.; Shendure, Jay; Freeze, Hudson H.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 12(2016)
Page Start:
3165
Record Type:
Journal Article
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4. Results of genetic analysis of 11 341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United States. (17th July 2022)

Authors:
Johnsen, Jill M.; Fletcher, Shelley N.; Dove, Angela; McCracken, Haley; Martin, Beth K.; Kircher, Martin; Josephson, Neil C.; Shendure, Jay; Ruuska, Sarah E.; Valentino, Leonard A.; Pierce, Glenn F.; Watson, Crystal; Cheng, Dunlei; Recht, Michael; Konkle, Barbara A.
Journal:
Journal of thrombosis and haemostasis
Issue:
Volume 20:Number 9(2022)
Page Start:
2022
Record Type:
Journal Article
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5. Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay. Issue 9 (23rd June 2019)

Authors:
Shigaki, Dustin; Adato, Orit; Adhikari, Aashish N.; Dong, Shengcheng; Hawkins‐Hooker, Alex; Inoue, Fumitaka; Juven‐Gershon, Tamar; Kenlay, Henry; Martin, Beth; Patra, Ayoti; Penzar, Dmitry D.; Schubach, Max; Xiong, Chenling; Yan, Zhongxia; Boyle, Alan P.; Kreimer, Anat; Kulakovskiy, Ivan V.; Reid...
Editors:
Moult, John; Brenner, Steven E.
Other Names:
Karchin Rachel guestEditor.; Pal Lipika R. specialEditor.
Journal:
Human mutation
Issue:
Volume 40:Issue 9(2019)
Page Start:
1280
Record Type:
Journal Article
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7. ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Issue 7 (21st March 2016)

Authors:
Ng, Bobby G.; Shiryaev, Sergey A.; Rymen, Daisy; Eklund, Erik A.; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E.; Alehan, Fusun; Midro, Alina T.; Bamshad, Michael J.; Barone, Rita; Berry, Gerard T.; Brumbaugh, Jane E.; Buckingham, Kati J.; Clarkson, Katie; Cole, F. Sessions; O'Connor, Shawn; ...
Journal:
Human mutation
Issue:
Volume 37:Issue 7(2016)
Page Start:
653
Record Type:
Journal Article
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8. Encephalopathy caused by novel mutations in the CMP‐sialic acid transporter, SLC35A1. Issue 11 (29th August 2017)

Authors:
Ng, Bobby G.; Asteggiano, Carla G.; Kircher, Martin; Buckingham, Kati J.; Raymond, Kimiyo; Nickerson, Deborah A.; Shendure, Jay; Bamshad, Michael J.; Ensslen, Matthias; Freeze, Hudson H.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 11(2017)
Page Start:
2906
Record Type:
Journal Article
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9. Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. (21st April 2015)

Authors:
Garg, Abhimanyu; Kircher, Martin; del Campo, Miguel; Amato, R. Stephen; Agarwal, Anil K.; University of Washington Center for Mendelian Genomics
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 8(2015:Aug.)
Page Start:
1796
Record Type:
Journal Article
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10. Expanding the Molecular and Clinical Phenotype of SSR4‐CDG. Issue 11 (27th August 2015)

Authors:
Ng, Bobby G.; Raymond, Kimiyo; Kircher, Martin; Buckingham, Kati J.; Wood, Tim; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.; University of Washington Center for Mendelian Genomics; Wong, Jonathan T.S.; Monteiro, Fabiola Paoli; Graham, Brett H.; Jackson, Sheryl; Sparkes, Rebecca; Sch...
Journal:
Human mutation
Issue:
Volume 36:Issue 11(2015:Nov.)
Page Start:
1048
Record Type:
Journal Article
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