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American journal of human genetics, 2016-06, Vol.98 (6), p.1249-1255
- Madeo, Marianna
- Stewart, Michelle
- Sun, Yuyang
- Sahir, Nadia
- Wiethoff, Sarah
- Chandrasekar, Indra
- Yarrow, Anna
- Rosenfeld, Jill A.
- Yang, Yaping
- Cordeiro, Dawn
- McCormick, Elizabeth M.
- Muraresku, Colleen C.
- Jepperson, Tyler N.
- McBeth, Lauren J.
- Seidahmed, Mohammed Zain
- El Khashab, Heba Y.
- Hamad, Muddathir
- Azzedine, Hamid
- Clark, Karl
- Corrochano, Silvia
- Wells, Sara
- Elting, Mariet W.
- Weiss, Marjan M.
- Burn, Sabrina
- Myers, Angela
- Landsverk, Megan
- Crotwell, Patricia L.
- Waisfisz, Quinten
- Wolf, Nicole I.
- Nolan, Patrick M.
- Padilla-Lopez, Sergio
- Houlden, Henry
- Lifton, Richard
- Mane, Shrikant
- Singh, Brij B.
- Falk, Marni J.
- Mercimek-Mahmutoglu, Saadet
- Bilguvar, Kaya
- Salih, Mustafa A.
- Acevedo-Arozena, Abraham
- Kruer, Michael C.
2016
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Current genetic medicine reports, 2018-06, Vol.6 (2), p.62-72
2018
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Neurology, 2020-02, Vol.94 (7), p.e687
2020
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Molecular genetics and metabolism, 2024-05, Vol.142 (1), p.108348-108348, Article 108348
2024
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Molecular genetics and metabolism, 2022-01, Vol.135 (1), p.93-101
- Wang, Jing
- Balciuniene, Jorune
- Diaz-Miranda, Maria Alejandra
- McCormick, Elizabeth M.
- Aref-Eshghi, Erfan
- Muir, Alison M.
- Cao, Kajia
- Troiani, Juliana
- Moseley, Alicia
- Fan, Zhiqian
- Zolkipli-Cunningham, Zarazuela
- Goldstein, Amy
- Ganetzky, Rebecca D.
- Muraresku, Colleen C.
- Peterson, James T.
- Spinner, Nancy B.
- Wallace, Douglas C.
- Dulik, Matthew C.
- Falk, Marni J.
2022
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Current genetic medicine reports, 2018-06, Vol.6 (2), p.52-61
2018
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JCSM clinical reports, 2021-10, Vol.6 (4), p.109-127
- Flickinger, Jean
- Fan, Jiaxin
- Wellik, Amanda
- Ganetzky, Rebecca
- Goldstein, Amy
- Muraresku, Colleen C.
- Glanzman, Allan M.
- Ballance, Elizabeth
- Leonhardt, Kristin
- McCormick, Elizabeth M.
- Soreth, Brianna
- Nguyen, Sara
- Gornish, Jennifer
- George‐Sankoh, Ibrahim
- Peterson, James
- MacMullen, Laura E.
- Vishnubhatt, Shailee
- McBride, Michael
- Haas, Richard
- Falk, Marni J.
- Xiao, Rui
- Zolkipli‐Cunningham, Zarazuela
2021
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Mitochondrion, 2015-09, Vol.24, p.S8
2015
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Human mutation, 2016-06, Vol.37 (6), p.540-548
2016
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American journal of medical genetics. Part A, 2020-02, Vol.182 (2), p.365-373
2020
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Clinics in laboratory medicine, 2020-06, Vol.40 (2), p.149-161
2020
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Pediatrics (Evanston), 2022-07, Vol.150 (1), p.1
- Szigety, Katherine M
- Crowley, Terrence B
- Gaiser, Kimberly B
- Chen, Erin Y
- Priestley, Jessica R C
- Williams, Lydia S
- Rangu, Sneha A
- Wright, Christina M
- Adusumalli, Priyanka
- Ahrens-Nicklas, Rebecca C
- Calderon, Brandon
- Cuddapah, Sanmati R
- Edmondson, Andrew
- Ficicioglu, Can
- Ganetzky, Rebecca
- Kalish, Jennifer M
- Krantz, Ian D
- McDonald-McGinn, Donna M
- Medne, Livija
- Muraresku, Colleen
- Pyle, Louise C
- Zackai, Elaine H
- Campbell, Ian M
- Sheppard, Sarah E
2022
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Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes
2024
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Journal of inherited metabolic disease, 2022-09, Vol.45 (5), p.996-1012
- Ganapathi, Mythily
- Friocourt, Gaelle
- Gueguen, Naig
- Friederich, Marisa W.
- Le Gac, Gerald
- Okur, Volkan
- Loaëc, Nadège
- Ludwig, Thomas
- Ka, Chandran
- Tanji, Kurenai
- Marcorelles, Pascale
- Theodorou, Evangelos
- Lignelli‐Dipple, Angela
- Voisset, Cécile
- Walker, Melissa A.
- Briere, Lauren C.
- Bourhis, Amélie
- Blondel, Marc
- LeDuc, Charles
- Hagen, Jacob
- Cooper, Cathleen
- Muraresku, Colleen
- Ferec, Claude
- Garenne, Armelle
- Lelez‐Soquet, Servane
- Rogers, Cassandra A.
- Shen, Yufeng
- Strode, Dana K.
- Bizargity, Peyman
- Iglesias, Alejandro
- Goldstein, Amy
- High, Frances A.
- Network, Undiagnosed Diseases
- Sweetser, David A.
- Ganetzky, Rebecca
- Van Hove, Johan L. K.
- Procaccio, Vincent
- Le Marechal, Cedric
- Chung, Wendy K.
2022
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JIMD Reports, Volume 23, 2015, Vol.23, p.71-75
2015
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