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Author/Creator Chao, Katherine R.

1. Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. Issue 10 (10th August 2020)

Authors:
Donkervoort, Sandra; Mohassel, Payam; Laugwitz, Lucia; Zaki, Maha S.; Kamsteeg, Erik‐Jan; Maroofian, Reza; Chao, Katherine R.; Verschuuren‐Bemelmans, Corien C.; Horber, Veronka; Fock, Annemarie J. M.; McCarty, Riley M.; Jain, Minal S.; Biancavilla, Victoria; McMacken, Grace; Nalls, Matthew; Voerm...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 10(2020)
Page Start:
2272
Record Type:
Journal Article
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2. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. Issue 1 (9th October 2020)

Authors:
D'Gama, Alissa M.; England, Eleina; Madden, Jill A.; Shi, Jiahai; Chao, Katherine R.; Wojcik, Monica H.; Torres, Alcy R.; Tan, Wen‐Hann; Berry, Gerard T.; Prabhu, Sanjay P.; Agrawal, Pankaj B.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 1(2021)
Page Start:
203
Record Type:
Journal Article
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3. Novel SPEG mutations in congenital myopathies: Genotype–phenotype correlations. Issue 3 (28th November 2018)

Authors:
Qualls, Anita E.; Donkervoort, Sandra; Herkert, Johanna C.; D'gama, Alissa M.; Bharucha‐Goebel, Diana; Collins, James; Chao, Katherine R.; Foley, A. Reghan; Schoots, Mirthe H.; Jongbloed, Jan D.H.; Bönnemann, Carsten G.; Agrawal, Pankaj B.
Journal:
Muscle & nerve
Issue:
Volume 59:Issue 3(2019)
Page Start:
357
Record Type:
Journal Article
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4. Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Issue 2 (3rd December 2019)

Authors:
Bryen, Samantha J.; Ewans, Lisa J.; Pinner, Jason; MacLennan, Suzanna C.; Donkervoort, Sandra; Castro, Diana; Töpf, Ana; O'Grady, Gina; Cummings, Beryl; Chao, Katherine R.; Weisburd, Ben; Francioli, Laurent; Faiz, Fathimath; Bournazos, Adam M.; Hu, Ying; Grosmann, Carla; Malicki, Denise M.; Doyle...
Journal:
Human mutation
Issue:
Volume 41:Issue 2(2020)
Page Start:
403
Record Type:
Journal Article
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5. Seqr: A web‐based analysis and collaboration tool for rare disease genomics. Issue 6 (21st March 2022)

Authors:
Pais, Lynn S.; Snow, Hana; Weisburd, Ben; Zhang, Shifa; Baxter, Samantha M.; DiTroia, Stephanie; O'Heir, Emily; England, Eleina; Chao, Katherine R.; Lemire, Gabrielle; Osei‐Owusu, Ikeoluwa; VanNoy, Grace E.; Wilson, Michael; Nguyen, Kevin; Arachchi, Harindra; Phu, William; Solomonson, Matthew; Ma...
Other Names:
Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 6(2022)
Page Start:
698
Record Type:
Journal Article
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