Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

BibTeX

@article{allodium:10.1016/j.ajhg.2023.06.009,
  title = {Beyond the exome: What’s next in diagnostic testing for Mendelian conditions},
  author = {Monica H. Wojcik and Chloe M. Reuter and Shruti Marwaha and Medhat Mahmoud and Michael H. Duyzend and Hayk Barseghyan and Bo Yuan and Philip M. Boone and Emily E. Groopman and Emmanuèle C. Délot and Deepti Jain and Alba Sanchis-Juan and Siwaar Abouhala and Jessica Albert and Miguel Almalvez and Raquel Alvarez and Mutaz Amin and Peter Anderson and Swaroop Aradhya and Euan Ashley and Themistocles Assimes and Light Auriga and Christina Austin-Tse and Mike Bamshad and Hayk Barseghyan and Samantha Baxter and Sairam Behera and Shaghayegh Beheshti and Gill Bejerano and Seth Berger and Jon Bernstein and Sabrina Best and Benjamin Blankenmeister and Elizabeth Blue and Eric Boerwinkle and Emily Bonkowski and Devon Bonner and Philip Boone and Miriam Bornhorst and Tugce Bozkurt-Yozgatli and Harrison Brand and Kati Buckingham and Daniel Calame and Silvia Casadei and Lisa Chadwick and Clarisa Chavez and Ziwei Chen and Ivan Chinn and Jessica Chong and Zeynep Coban-Akdemir and Andrea J. Cohen and Sarah Conner and Matthew Conomos and Karen Coveler and Ya Allen Cui and Sara Currin and Robert Daber and Zain Dardas and Colleen Davis and Moez Dawood and Ivan de Dios and Celine de Esch and Meghan Delaney and Emmanuèle Délot and Stephanie DiTroia and Harsha Doddapaneni and Haowei Du and Ruizhi Duan and Shannon Dugan-Perez and Nhat Duong and Michael Duyzend and Evan Eichler and Sara Emami and Jawid Fatih and Jamie Fraser and Vincent Fusaro and Miranda Galey and Vijay Ganesh and Kiran Garimella and Richard Gibbs and Casey Gifford and Amy Ginsburg and Pagé Goddard and Stephanie Gogarten and Nikhita Gogate and William Gordon and John E. Gorzynski and William Greenleaf and Christopher Grochowski and Emily Groopman and Rodrigo Guarischi Sousa and Sanna Gudmundsson and Ashima Gulati and Daniel Guo and Walker Hale and Stacey Hall and William Harvey and Megan Hawley and Ben Heavner and Isabella Herman and Martha Horike-Pyne and Jianhong Hu and Yongqing Huang and James Hwang and Gail Jarvik and Tanner Jensen and Shalini Jhangiani and David Jimenez-Morales and Christopher Jin and Ahmed K. Saad and Amanda Kahn-Kirby and Jessica Kain and Parneet Kaur and Laura Keehan and Susan Knoblach and Arthur Ko and Jennefer Kohler and Anshul Kundaje and Soumya Kundu and Samuel M. Lancaster and Katie Larsson and Gabrielle Lemire and Richard Lewis and Wei Li and Yidan Li and Pengfei Liu and Jonathan LoTempio and James Lupski and Jialan Ma and Daniel MacArthur and Medhat Mahmoud and Nirav Malani and Brian Mangilog and Dana Marafi and Sofia Marmolejos and Daniel Marten and Eva Martinez and Colby Marvin and Shruti Marwaha and Francesco Kumara Mastrorosa and Dena Matalon and Susanne May and Sean McGee and Lauren Meador and Heather Mefford and Hector Rodrigo Mendez and Alexander Miller and Danny E. Miller and Tadahiro Mitani and Stephen Montgomery and Hala Mohamed Moussa and Mariana Moyses and Chloe Munderloh and Donna Muzny and Sarah Nelson and Matthew B. Neu and Jonathan Nguyen and Thuy-mi P. Nguyen and Robert Nussbaum and Keith Nykamp and William O'Callaghan and Emily O'Heir and Melanie O'Leary and Jeren Olsen and Ikeoluwa Osei-Owusu and Anne O'Donnell-Luria and Evin Padhi and Lynn Pais and Miao Pan and Piyush Panchal and Karynne Patterson and Sheryl Payne and Davut Pehlivan and Paul Petrowski and Alicia Pham and Georgia Pitsava and Astaria Podesta and Sarah Ponce and Jennifer Posey and Jaime Prosser and Thomas Quertermous and Archana Rai and Arun Ramani and Heidi Rehm and Chloe Reuter and Jason Reuter and Matthew Richardson and Andres Rivera-Munoz and Oriane Rubio and Aniko Sabo and Monica Salani and Kaitlin Samocha and Alba Sanchis-Juan and Sarah Savage and Stuart Scott and Evette Scott and Fritz Sedlazeck and Gulalai Shah and Ali Shojaie and Mugdha Singh and Josh Smith and Kevin Smith and Hana Snow and Michael Snyder and Kayla Socarras and Lea Starita and Brigitte Stark and Sarah Stenton and Andrew Stergachis and Adrienne Stilp and Laksshman Sundaram and V. Reid Sutton and Jui-Cheng Tai and Michael Talkowski and Christina Tise and Catherine Tong and Philip Tsao and Rachel Ungar and Grace VanNoy and Eric Vilain and Isabella Voutos and Kim Walker and Ben Weisburd and Jeff Weiss and Chris Wellington and Ziming Weng and Emily Westheimer and Marsha Wheeler and Matthew Wheeler and Laurens Wiel and Michael Wilson and Monica Wojcik and Quenna Wong and Issac Wong and Changrui Xiao and Rachita Yadav and Qian Yi and Bo Yuan and Jianhua Zhao and Jimmy Zhen and Harry Zhou and Lea M. Starita and Michael Talkowski and Stephen B. Montgomery and Michael J. Bamshad and Jessica X. Chong and Matthew T. Wheeler and Seth I. Berger and Anne O'Donnell-Luria and Fritz J. Sedlazeck and Danny E. Miller},
  year = {2023},
  journal = {The American Journal of Human Genetics},
  doi = {10.1016/j.ajhg.2023.06.009},
  url = {https://doi.org/10.1016/j.ajhg.2023.06.009}
}

RIS

TY  - JOUR
TI  - Beyond the exome: What’s next in diagnostic testing for Mendelian conditions
AU  - Monica H. Wojcik
AU  - Chloe M. Reuter
AU  - Shruti Marwaha
AU  - Medhat Mahmoud
AU  - Michael H. Duyzend
AU  - Hayk Barseghyan
AU  - Bo Yuan
AU  - Philip M. Boone
AU  - Emily E. Groopman
AU  - Emmanuèle C. Délot
AU  - Deepti Jain
AU  - Alba Sanchis-Juan
AU  - Siwaar Abouhala
AU  - Jessica Albert
AU  - Miguel Almalvez
AU  - Raquel Alvarez
AU  - Mutaz Amin
AU  - Peter Anderson
AU  - Swaroop Aradhya
AU  - Euan Ashley
AU  - Themistocles Assimes
AU  - Light Auriga
AU  - Christina Austin-Tse
AU  - Mike Bamshad
AU  - Hayk Barseghyan
AU  - Samantha Baxter
AU  - Sairam Behera
AU  - Shaghayegh Beheshti
AU  - Gill Bejerano
AU  - Seth Berger
AU  - Jon Bernstein
AU  - Sabrina Best
AU  - Benjamin Blankenmeister
AU  - Elizabeth Blue
AU  - Eric Boerwinkle
AU  - Emily Bonkowski
AU  - Devon Bonner
AU  - Philip Boone
AU  - Miriam Bornhorst
AU  - Tugce Bozkurt-Yozgatli
AU  - Harrison Brand
AU  - Kati Buckingham
AU  - Daniel Calame
AU  - Silvia Casadei
AU  - Lisa Chadwick
AU  - Clarisa Chavez
AU  - Ziwei Chen
AU  - Ivan Chinn
AU  - Jessica Chong
AU  - Zeynep Coban-Akdemir
AU  - Andrea J. Cohen
AU  - Sarah Conner
AU  - Matthew Conomos
AU  - Karen Coveler
AU  - Ya Allen Cui
AU  - Sara Currin
AU  - Robert Daber
AU  - Zain Dardas
AU  - Colleen Davis
AU  - Moez Dawood
AU  - Ivan de Dios
AU  - Celine de Esch
AU  - Meghan Delaney
AU  - Emmanuèle Délot
AU  - Stephanie DiTroia
AU  - Harsha Doddapaneni
AU  - Haowei Du
AU  - Ruizhi Duan
AU  - Shannon Dugan-Perez
AU  - Nhat Duong
AU  - Michael Duyzend
AU  - Evan Eichler
AU  - Sara Emami
AU  - Jawid Fatih
AU  - Jamie Fraser
AU  - Vincent Fusaro
AU  - Miranda Galey
AU  - Vijay Ganesh
AU  - Kiran Garimella
AU  - Richard Gibbs
AU  - Casey Gifford
AU  - Amy Ginsburg
AU  - Pagé Goddard
AU  - Stephanie Gogarten
AU  - Nikhita Gogate
AU  - William Gordon
AU  - John E. Gorzynski
AU  - William Greenleaf
AU  - Christopher Grochowski
AU  - Emily Groopman
AU  - Rodrigo Guarischi Sousa
AU  - Sanna Gudmundsson
AU  - Ashima Gulati
AU  - Daniel Guo
AU  - Walker Hale
AU  - Stacey Hall
AU  - William Harvey
AU  - Megan Hawley
AU  - Ben Heavner
AU  - Isabella Herman
AU  - Martha Horike-Pyne
AU  - Jianhong Hu
AU  - Yongqing Huang
AU  - James Hwang
AU  - Gail Jarvik
AU  - Tanner Jensen
AU  - Shalini Jhangiani
AU  - David Jimenez-Morales
AU  - Christopher Jin
AU  - Ahmed K. Saad
AU  - Amanda Kahn-Kirby
AU  - Jessica Kain
AU  - Parneet Kaur
AU  - Laura Keehan
AU  - Susan Knoblach
AU  - Arthur Ko
AU  - Jennefer Kohler
AU  - Anshul Kundaje
AU  - Soumya Kundu
AU  - Samuel M. Lancaster
AU  - Katie Larsson
AU  - Gabrielle Lemire
AU  - Richard Lewis
AU  - Wei Li
AU  - Yidan Li
AU  - Pengfei Liu
AU  - Jonathan LoTempio
AU  - James Lupski
AU  - Jialan Ma
AU  - Daniel MacArthur
AU  - Medhat Mahmoud
AU  - Nirav Malani
AU  - Brian Mangilog
AU  - Dana Marafi
AU  - Sofia Marmolejos
AU  - Daniel Marten
AU  - Eva Martinez
AU  - Colby Marvin
AU  - Shruti Marwaha
AU  - Francesco Kumara Mastrorosa
AU  - Dena Matalon
AU  - Susanne May
AU  - Sean McGee
AU  - Lauren Meador
AU  - Heather Mefford
AU  - Hector Rodrigo Mendez
AU  - Alexander Miller
AU  - Danny E. Miller
AU  - Tadahiro Mitani
AU  - Stephen Montgomery
AU  - Hala Mohamed Moussa
AU  - Mariana Moyses
AU  - Chloe Munderloh
AU  - Donna Muzny
AU  - Sarah Nelson
AU  - Matthew B. Neu
AU  - Jonathan Nguyen
AU  - Thuy-mi P. Nguyen
AU  - Robert Nussbaum
AU  - Keith Nykamp
AU  - William O'Callaghan
AU  - Emily O'Heir
AU  - Melanie O'Leary
AU  - Jeren Olsen
AU  - Ikeoluwa Osei-Owusu
AU  - Anne O'Donnell-Luria
AU  - Evin Padhi
AU  - Lynn Pais
AU  - Miao Pan
AU  - Piyush Panchal
AU  - Karynne Patterson
AU  - Sheryl Payne
AU  - Davut Pehlivan
AU  - Paul Petrowski
AU  - Alicia Pham
AU  - Georgia Pitsava
AU  - Astaria Podesta
AU  - Sarah Ponce
AU  - Jennifer Posey
AU  - Jaime Prosser
AU  - Thomas Quertermous
AU  - Archana Rai
AU  - Arun Ramani
AU  - Heidi Rehm
AU  - Chloe Reuter
AU  - Jason Reuter
AU  - Matthew Richardson
AU  - Andres Rivera-Munoz
AU  - Oriane Rubio
AU  - Aniko Sabo
AU  - Monica Salani
AU  - Kaitlin Samocha
AU  - Alba Sanchis-Juan
AU  - Sarah Savage
AU  - Stuart Scott
AU  - Evette Scott
AU  - Fritz Sedlazeck
AU  - Gulalai Shah
AU  - Ali Shojaie
AU  - Mugdha Singh
AU  - Josh Smith
AU  - Kevin Smith
AU  - Hana Snow
AU  - Michael Snyder
AU  - Kayla Socarras
AU  - Lea Starita
AU  - Brigitte Stark
AU  - Sarah Stenton
AU  - Andrew Stergachis
AU  - Adrienne Stilp
AU  - Laksshman Sundaram
AU  - V. Reid Sutton
AU  - Jui-Cheng Tai
AU  - Michael Talkowski
AU  - Christina Tise
AU  - Catherine Tong
AU  - Philip Tsao
AU  - Rachel Ungar
AU  - Grace VanNoy
AU  - Eric Vilain
AU  - Isabella Voutos
AU  - Kim Walker
AU  - Ben Weisburd
AU  - Jeff Weiss
AU  - Chris Wellington
AU  - Ziming Weng
AU  - Emily Westheimer
AU  - Marsha Wheeler
AU  - Matthew Wheeler
AU  - Laurens Wiel
AU  - Michael Wilson
AU  - Monica Wojcik
AU  - Quenna Wong
AU  - Issac Wong
AU  - Changrui Xiao
AU  - Rachita Yadav
AU  - Qian Yi
AU  - Bo Yuan
AU  - Jianhua Zhao
AU  - Jimmy Zhen
AU  - Harry Zhou
AU  - Lea M. Starita
AU  - Michael Talkowski
AU  - Stephen B. Montgomery
AU  - Michael J. Bamshad
AU  - Jessica X. Chong
AU  - Matthew T. Wheeler
AU  - Seth I. Berger
AU  - Anne O'Donnell-Luria
AU  - Fritz J. Sedlazeck
AU  - Danny E. Miller
PY  - 2023
JO  - The American Journal of Human Genetics
DO  - 10.1016/j.ajhg.2023.06.009
UR  - https://doi.org/10.1016/j.ajhg.2023.06.009
ER  - 

APA

Wojcik, M. H., Reuter, C. M., Marwaha, S., Mahmoud, M., Duyzend, M. H., Barseghyan, H., Yuan, B., Boone, P. M., Groopman, E. E., Délot, E. C., Jain, D., Sanchis-Juan, A., Abouhala, S., Albert, J., Almalvez, M., Alvarez, R., Amin, M., Anderson, P., Aradhya, S., Ashley, E., Assimes, T., Auriga, L., Austin-Tse, C., Bamshad, M., Barseghyan, H., Baxter, S., Behera, S., Beheshti, S., Bejerano, G., Berger, S., Bernstein, J., Best, S., Blankenmeister, B., Blue, E., Boerwinkle, E., Bonkowski, E., Bonner, D., Boone, P., Bornhorst, M., Bozkurt-Yozgatli, T., Brand, H., Buckingham, K., Calame, D., Casadei, S., Chadwick, L., Chavez, C., Chen, Z., Chinn, I., Chong, J., Coban-Akdemir, Z., Cohen, A. J., Conner, S., Conomos, M., Coveler, K., Cui, Y. A., Currin, S., Daber, R., Dardas, Z., Davis, C., Dawood, M., Dios, I. D., Esch, C. D., Delaney, M., Délot, E., DiTroia, S., Doddapaneni, H., Du, H., Duan, R., Dugan-Perez, S., Duong, N., Duyzend, M., Eichler, E., Emami, S., Fatih, J., Fraser, J., Fusaro, V., Galey, M., Ganesh, V., Garimella, K., Gibbs, R., Gifford, C., Ginsburg, A., Goddard, P., Gogarten, S., Gogate, N., Gordon, W., Gorzynski, J. E., Greenleaf, W., Grochowski, C., Groopman, E., Sousa, R. G., Gudmundsson, S., Gulati, A., Guo, D., Hale, W., Hall, S., Harvey, W., Hawley, M., Heavner, B., Herman, I., Horike-Pyne, M., Hu, J., Huang, Y., Hwang, J., Jarvik, G., Jensen, T., Jhangiani, S., Jimenez-Morales, D., Jin, C., Saad, A. K., Kahn-Kirby, A., Kain, J., Kaur, P., Keehan, L., Knoblach, S., Ko, A., Kohler, J., Kundaje, A., Kundu, S., Lancaster, S. M., Larsson, K., Lemire, G., Lewis, R., Li, W., Li, Y., Liu, P., LoTempio, J., Lupski, J., Ma, J., MacArthur, D., Mahmoud, M., Malani, N., Mangilog, B., Marafi, D., Marmolejos, S., Marten, D., Martinez, E., Marvin, C., Marwaha, S., Mastrorosa, F. K., Matalon, D., May, S., McGee, S., Meador, L., Mefford, H., Mendez, H. R., Miller, A., Miller, D. E., Mitani, T., Montgomery, S., Moussa, H. M., Moyses, M., Munderloh, C., Muzny, D., Nelson, S., Neu, M. B., Nguyen, J., Nguyen, T. P., Nussbaum, R., Nykamp, K., O'Callaghan, W., O'Heir, E., O'Leary, M., Olsen, J., Osei-Owusu, I., O'Donnell-Luria, A., Padhi, E., Pais, L., Pan, M., Panchal, P., Patterson, K., Payne, S., Pehlivan, D., Petrowski, P., Pham, A., Pitsava, G., Podesta, A., Ponce, S., Posey, J., Prosser, J., Quertermous, T., Rai, A., Ramani, A., Rehm, H., Reuter, C., Reuter, J., Richardson, M., Rivera-Munoz, A., Rubio, O., Sabo, A., Salani, M., Samocha, K., Sanchis-Juan, A., Savage, S., Scott, S., Scott, E., Sedlazeck, F., Shah, G., Shojaie, A., Singh, M., Smith, J., Smith, K., Snow, H., Snyder, M., Socarras, K., Starita, L., Stark, B., Stenton, S., Stergachis, A., Stilp, A., Sundaram, L., Sutton, V. R., Tai, J., Talkowski, M., Tise, C., Tong, C., Tsao, P., Ungar, R., VanNoy, G., Vilain, E., Voutos, I., Walker, K., Weisburd, B., Weiss, J., Wellington, C., Weng, Z., Westheimer, E., Wheeler, M., Wheeler, M., Wiel, L., Wilson, M., Wojcik, M., Wong, Q., Wong, I., Xiao, C., Yadav, R., Yi, Q., Yuan, B., Zhao, J., Zhen, J., Zhou, H., Starita, L. M., Talkowski, M., Montgomery, S. B., Bamshad, M. J., Chong, J. X., Wheeler, M. T., Berger, S. I., O'Donnell-Luria, A., Sedlazeck, F. J., & Miller, D. E. (2023). Beyond the exome: What’s next in diagnostic testing for Mendelian conditions. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2023.06.009