SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Bobby G. Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A. Bacino, Rita Barone, Lorenzo D. Botto, Jennifer E. Burton, Colleen Carlston, Brian Hon‐Yin Chung, Julie S. Cohen, David Coman, Katrina M. Dipple, Naghmeh Dorrani, William B. Dobyns, Abdallah F. Elias, Leon Epstein, William A. Gahl, Domenico Garozzo, Trine Bjørg Hammer, Jaclyn Haven, Delphine Héron, Matthew Herzog, George E. Hoganson, Jesse M. Hunter, Mahim Jain, Jane Juusola, Shenela Lakhani, Hane Lee, Joy Lee, Katherine Lewis, Nicola Longo, Charles Marques Lourenço, Christopher C.Y. Mak, Dianalee McKnight, Bryce A. Mendelsohn, Cyril Mignot, Ghayda Mirzaa, Wendy Mitchell, Hiltrud Muhle, Stanley F. Nelson, Mariusz Olczak, Christina G.S. Palmer, Arthur Partikian, Marc C. Patterson, Tyler M. Pierson, Shane C. Quinonez, Brigid M. Regan, M. Elizabeth Ross, Maria J. Guillen Sacoto, Fernando Scaglia, Ingrid E. Scheffer, Devorah Segal, Nilika Shah Singhal, Pasquale Striano, Luisa Sturiale, Joseph D. Symonds, Sha Tang, Eric Vilain, Mary Willis, Lynne A. Wolfe, Hui Yang, Shoji Yano, Zöe Powis, Sharon F. Suchy, Jill A. Rosenfeld, Andrew C. Edmondson, Stephanie Grunewald, Hudson H. Freeze

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DOI: 10.1002/humu.23731
Published: 2019-04-24
Container: Human Mutation
Publisher: Wiley
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1002/humu.23731,
title = {SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals},
author = {Bobby G. Ng and Paulina Sosicka and Satish Agadi and Mohammed Almannai and Carlos A. Bacino and Rita Barone and Lorenzo D. Botto and Jennifer E. Burton and Colleen Carlston and Brian Hon‐Yin Chung and Julie S. Cohen and David Coman and Katrina M. Dipple and Naghmeh Dorrani and William B. Dobyns and Abdallah F. Elias and Leon Epstein and William A. Gahl and Domenico Garozzo and Trine Bjørg Hammer and Jaclyn Haven and Delphine Héron and Matthew Herzog and George E. Hoganson and Jesse M. Hunter and Mahim Jain and Jane Juusola and Shenela Lakhani and Hane Lee and Joy Lee and Katherine Lewis and Nicola Longo and Charles Marques Lourenço and Christopher C.Y. Mak and Dianalee McKnight and Bryce A. Mendelsohn and Cyril Mignot and Ghayda Mirzaa and Wendy Mitchell and Hiltrud Muhle and Stanley F. Nelson and Mariusz Olczak and Christina G.S. Palmer and Arthur Partikian and Marc C. Patterson and Tyler M. Pierson and Shane C. Quinonez and Brigid M. Regan and M. Elizabeth Ross and Maria J. Guillen Sacoto and Fernando Scaglia and Ingrid E. Scheffer and Devorah Segal and Nilika Shah Singhal and Pasquale Striano and Luisa Sturiale and Joseph D. Symonds and Sha Tang and Eric Vilain and Mary Willis and Lynne A. Wolfe and Hui Yang and Shoji Yano and Zöe Powis and Sharon F. Suchy and Jill A. Rosenfeld and Andrew C. Edmondson and Stephanie Grunewald and Hudson H. Freeze},
year = {2019},
journal = {Human Mutation},
doi = {10.1002/humu.23731},
url = {https://doi.org/10.1002/humu.23731}
}

RIS

TY  - JOUR
TI  - SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
AU  - Bobby G. Ng
AU  - Paulina Sosicka
AU  - Satish Agadi
AU  - Mohammed Almannai
AU  - Carlos A. Bacino
AU  - Rita Barone
AU  - Lorenzo D. Botto
AU  - Jennifer E. Burton
AU  - Colleen Carlston
AU  - Brian Hon‐Yin Chung
AU  - Julie S. Cohen
AU  - David Coman
AU  - Katrina M. Dipple
AU  - Naghmeh Dorrani
AU  - William B. Dobyns
AU  - Abdallah F. Elias
AU  - Leon Epstein
AU  - William A. Gahl
AU  - Domenico Garozzo
AU  - Trine Bjørg Hammer
AU  - Jaclyn Haven
AU  - Delphine Héron
AU  - Matthew Herzog
AU  - George E. Hoganson
AU  - Jesse M. Hunter
AU  - Mahim Jain
AU  - Jane Juusola
AU  - Shenela Lakhani
AU  - Hane Lee
AU  - Joy Lee
AU  - Katherine Lewis
AU  - Nicola Longo
AU  - Charles Marques Lourenço
AU  - Christopher C.Y. Mak
AU  - Dianalee McKnight
AU  - Bryce A. Mendelsohn
AU  - Cyril Mignot
AU  - Ghayda Mirzaa
AU  - Wendy Mitchell
AU  - Hiltrud Muhle
AU  - Stanley F. Nelson
AU  - Mariusz Olczak
AU  - Christina G.S. Palmer
AU  - Arthur Partikian
AU  - Marc C. Patterson
AU  - Tyler M. Pierson
AU  - Shane C. Quinonez
AU  - Brigid M. Regan
AU  - M. Elizabeth Ross
AU  - Maria J. Guillen Sacoto
AU  - Fernando Scaglia
AU  - Ingrid E. Scheffer
AU  - Devorah Segal
AU  - Nilika Shah Singhal
AU  - Pasquale Striano
AU  - Luisa Sturiale
AU  - Joseph D. Symonds
AU  - Sha Tang
AU  - Eric Vilain
AU  - Mary Willis
AU  - Lynne A. Wolfe
AU  - Hui Yang
AU  - Shoji Yano
AU  - Zöe Powis
AU  - Sharon F. Suchy
AU  - Jill A. Rosenfeld
AU  - Andrew C. Edmondson
AU  - Stephanie Grunewald
AU  - Hudson H. Freeze
PY  - 2019
JO  - Human Mutation
DO  - 10.1002/humu.23731
UR  - https://doi.org/10.1002/humu.23731
ER  -

APA

Ng, B. G., Sosicka, P., Agadi, S., Almannai, M., Bacino, C. A., Barone, R., Botto, L. D., Burton, J. E., Carlston, C., Chung, B. H., Cohen, J. S., Coman, D., Dipple, K. M., Dorrani, N., Dobyns, W. B., Elias, A. F., Epstein, L., Gahl, W. A., Garozzo, D., Hammer, T. B., Haven, J., Héron, D., Herzog, M., Hoganson, G. E., Hunter, J. M., Jain, M., Juusola, J., Lakhani, S., Lee, H., Lee, J., Lewis, K., Longo, N., Lourenço, C. M., Mak, C. C., McKnight, D., Mendelsohn, B. A., Mignot, C., Mirzaa, G., Mitchell, W., Muhle, H., Nelson, S. F., Olczak, M., Palmer, C. G., Partikian, A., Patterson, M. C., Pierson, T. M., Quinonez, S. C., Regan, B. M., Ross, M. E., Sacoto, M. J. G., Scaglia, F., Scheffer, I. E., Segal, D., Singhal, N. S., Striano, P., Sturiale, L., Symonds, J. D., Tang, S., Vilain, E., Willis, M., Wolfe, L. A., Yang, H., Yano, S., Powis, Z., Suchy, S. F., Rosenfeld, J. A., Edmondson, A. C., Grunewald, S., & Freeze, H. H. (2019). SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Human Mutation. https://doi.org/10.1002/humu.23731

Source records

crossref · retrieved 2026-09-26T10:50:31.439Z