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3021.
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3022.
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Lewy pathology in Parkinson's disease consists of crowded organelles and lipid membranes. [electronic resource] by
- Shahmoradian, Sarah H
- Lewis, Amanda J
- Genoud, Christel
- Hench, Jürgen
- Moors, Tim E
- Navarro, Paula P
- Castaño-Díez, Daniel
- Schweighauser, Gabriel
- Graff-Meyer, Alexandra
- Goldie, Kenneth N
- Sütterlin, Rosmarie
- Huisman, Evelien
- Ingrassia, Angela
- Gier, Yvonne de
- Rozemuller, Annemieke J M
- Wang, Jing
- Paepe, Anne De
- Erny, Johannes
- Staempfli, Andreas
- Hoernschemeyer, Joerg
- Großerüschkamp, Frederik
- Niedieker, Daniel
- El-Mashtoly, Samir F
- Quadri, Marialuisa
- Van IJcken, Wilfred F J
- Bonifati, Vincenzo
- Gerwert, Klaus
- Bohrmann, Bernd
- Frank, Stephan
- Britschgi, Markus
- Stahlberg, Henning
- Van de Berg, Wilma D J
- Lauer, Matthias E
Producer: 20190718
In:
Nature neuroscience vol. 22
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3023.
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Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer. [electronic resource] by
- Voskanian, Alin
- Katsonis, Panagiotis
- Lichtarge, Olivier
- Pejaver, Vikas
- Radivojac, Predrag
- Mooney, Sean D
- Capriotti, Emidio
- Bromberg, Yana
- Wang, Yanran
- Miller, Max
- Martelli, Pier Luigi
- Savojardo, Castrense
- Babbi, Giulia
- Casadio, Rita
- Cao, Yue
- Sun, Yuanfei
- Shen, Yang
- Garg, Aditi
- Pal, Debnath
- Yu, Yao
- Huff, Chad D
- Tavtigian, Sean V
- Young, Erin
- Neuhausen, Susan L
- Ziv, Elad
- Pal, Lipika R
- Andreoletti, Gaia
- Brenner, Steven E
- Kann, Maricel G
Producer: 20200313
In:
Human mutation vol. 40
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3024.
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Fusion driven JMML: a novel CCDC88C-FLT3 fusion responsive to sorafenib identified by RNA sequencing. [electronic resource] by
- Chao, Alexander K
- Meyer, Julia A
- Lee, Alex G
- Hecht, Anna
- Tarver, Theodore
- Van Ziffle, Jessica
- Koegel, Ashley K
- Golden, Carla
- Braun, Benjamin S
- Sweet-Cordero, E Alejandro
- Smith, Catherine C
- Dvorak, Christopher C
- Loh, Mignon L
- Stieglitz, Elliot
Producer: 20200804
In:
Leukemia vol. 34
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3025.
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Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. [electronic resource] by
- Dinckan, N
- Du, R
- Petty, L E
- Coban-Akdemir, Z
- Jhangiani, S N
- Paine, I
- Baugh, E H
- Erdem, A P
- Kayserili, H
- Doddapaneni, H
- Hu, J
- Muzny, D M
- Boerwinkle, E
- Gibbs, R A
- Lupski, J R
- Uyguner, Z O
- Below, J E
- Letra, A
Producer: 20180112
In:
Journal of dental research vol. 97
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3026.
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De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. [electronic resource] by
- Timberlake, Andrew T
- Furey, Charuta G
- Choi, Jungmin
- Nelson-Williams, Carol
- Loring, Erin
- Galm, Amy
- Kahle, Kristopher T
- Steinbacher, Derek M
- Larysz, Dawid
- Persing, John A
- Lifton, Richard P
Producer: 20180611
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 114
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3027.
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3028.
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3029.
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Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. [electronic resource] by
- Latif, Zahid
- Chakchouk, Imen
- Schrauwen, Isabelle
- Lee, Kwanghyuk
- Santos-Cortez, Regie Lyn P
- Abbe, Izoduwa
- Acharya, Anushree
- Jarral, Afeefa
- Ali, Imran
- Ullah, Ehsan
- Khan, Muhammad Nasim
- Ali, Ghazanfar
- Tahir, Tufail Hussain
- Bamshad, Michael J
- Nickerson, Deborah A
- Ahmad, Wasim
- Ansar, Muhammad
- Leal, Suzanne M
Producer: 20190419
In:
Investigative ophthalmology & visual science vol. 59
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3030.
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Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines. [electronic resource] by
- Szczałuba, Krzysztof
- Chmielewska, Joanna J
- Sokolowska, Olga
- Rydzanicz, Małgorzata
- Szymańska, Krystyna
- Feleszko, Wojciech
- Włodarski, Paweł
- Biernacka, Anna
- Murcia Pienkowski, Victor
- Walczak, Anna
- Bargeł, Elżbieta
- Królewczyk, Katarzyna
- Nowacka, Agata
- Stawiński, Piotr
- Nowis, Dominika
- Dziembowska, Magdalena
- Płoski, Rafał
Producer: 20191114
In:
Clinical genetics vol. 94
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3031.
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Activating mutations in the MAP-kinase pathway define non-ossifying fibroma of bone. [electronic resource] by
- Baumhoer, Daniel
- Kovac, Michal
- Sperveslage, Jan
- Ameline, Baptiste
- Strobl, Anna-Christina
- Krause, Arthur
- Trautmann, Marcel
- Wardelmann, Eva
- Nathrath, Michaela
- Höller, Sylvia
- Hardes, Jendrik
- Gosheger, Georg
- Krieg, Andreas H
- Vieth, Volker
- Tirabosco, Roberto
- Amary, Fernanda
- Flanagan, Adrienne M
- Hartmann, Wolfgang
Producer: 20200406
In:
The Journal of pathology vol. 248
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3032.
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Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants. [electronic resource] by
- Manickam, Kandamurugu
- Buchanan, Adam H
- Schwartz, Marci L B
- Hallquist, Miranda L G
- Williams, Janet L
- Rahm, Alanna Kulchak
- Rocha, Heather
- Savatt, Juliann M
- Evans, Alyson E
- Butry, Loren M
- Lazzeri, Amanda L
- Lindbuchler, D'Andra M
- Flansburg, Carroll N
- Leeming, Rosemary
- Vogel, Victor G
- Lebo, Matthew S
- Mason-Suares, Heather M
- Hoskinson, Derick C
- Abul-Husn, Noura S
- Dewey, Frederick E
- Overton, John D
- Reid, Jeffrey G
- Baras, Aris
- Willard, Huntington F
- McCormick, Cara Z
- Krishnamurthy, Sarath B
- Hartzel, Dustin N
- Kost, Korey A
- Lavage, Daniel R
- Sturm, Amy C
- Frisbie, Lauren R
- Person, T Nate
- Metpally, Raghu P
- Giovanni, Monica A
- Lowry, Lacy E
- Leader, Joseph B
- Ritchie, Marylyn D
- Carey, David J
- Justice, Anne E
- Kirchner, H Lester
- Faucett, W Andrew
- Williams, Marc S
- Ledbetter, David H
- Murray, Michael F
Producer: 20190924
In:
JAMA network open vol. 1
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3033.
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Detection of circulating tumour cell clusters in human glioblastoma. [electronic resource] by
- Krol, Ilona
- Castro-Giner, Francesc
- Maurer, Martina
- Gkountela, Sofia
- Szczerba, Barbara Maria
- Scherrer, Ramona
- Coleman, Niamh
- Carreira, Suzanne
- Bachmann, Felix
- Anderson, Stephanie
- Engelhardt, Marc
- Lane, Heidi
- Evans, Thomas Ronald Jeffry
- Plummer, Ruth
- Kristeleit, Rebecca
- Lopez, Juanita
- Aceto, Nicola
Producer: 20190828
In:
British journal of cancer vol. 119
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3034.
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RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges. [electronic resource] by
- Elliott, Alison M
- du Souich, Christèle
- Lehman, Anna
- Guella, Ilaria
- Evans, Daniel M
- Candido, Tara
- Tooman, Leah
- Armstrong, Linlea
- Clarke, Lorne
- Gibson, William
- Gill, Harinder
- Lavoie, Pascal M
- Lewis, Suzanne
- McKinnon, Margaret L
- Nikkel, Sarah M
- Patel, Millan
- Solimano, Alfonso
- Synnes, Anne
- Ting, Joseph
- van Allen, Margot
- Christilaw, Jan
- Farrer, Matthew J
- Friedman, Jan M
- Osiovich, Horacio
Producer: 20200122
In:
European journal of pediatrics vol. 178
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3035.
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3036.
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Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies. [electronic resource] by
- Tirosh, Irit
- Spielman, Shiri
- Barel, Ortal
- Ram, Reut
- Stauber, Tali
- Paret, Gideon
- Rubinsthein, Marina
- Pessach, Itai M
- Gerstein, Maya
- Anikster, Yair
- Shukrun, Rachel
- Dagan, Adi
- Adler, Katerina
- Pode-Shakked, Ben
- Volkov, Alexander
- Perelman, Marina
- Greenberger, Shoshana
- Somech, Raz
- Lahav, Einat
- Majmundar, Amar J
- Padeh, Shai
- Hildebrandt, Friedhelm
- Vivante, Asaf
Producer: 20200210
In:
Pediatric rheumatology online journal vol. 17
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3037.
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Metabolic reprogramming toward oxidative phosphorylation identifies a therapeutic target for mantle cell lymphoma. [electronic resource] by
- Zhang, Liang
- Yao, Yixin
- Zhang, Shaojun
- Liu, Yang
- Guo, Hui
- Ahmed, Makhdum
- Bell, Taylor
- Zhang, Hui
- Han, Guangchun
- Lorence, Elizabeth
- Badillo, Maria
- Zhou, Shouhao
- Sun, Yuting
- Di Francesco, M Emilia
- Feng, Ningping
- Haun, Randy
- Lan, Renny
- Mackintosh, Samuel G
- Mao, Xizeng
- Song, Xingzhi
- Zhang, Jianhua
- Pham, Lan V
- Lorenzi, Philip L
- Marszalek, Joseph
- Heffernan, Tim
- Draetta, Giulio
- Jones, Philip
- Futreal, Andrew
- Nomie, Krystle
- Wang, Linghua
- Wang, Michael
Producer: 20200714
In:
Science translational medicine vol. 11
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3038.
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Defective mitochondrial protease LonP1 can cause classical mitochondrial disease. [electronic resource] by
- Peter, Bradley
- Waddington, Christie L
- Oláhová, Monika
- Sommerville, Ewen W
- Hopton, Sila
- Pyle, Angela
- Champion, Michael
- Ohlson, Monica
- Siibak, Triinu
- Chrzanowska-Lightowlers, Zofia M A
- Taylor, Robert W
- Falkenberg, Maria
- Lightowlers, Robert N
Producer: 20190214
In:
Human molecular genetics vol. 27
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3039.
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Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy. [electronic resource] by
- Khan, Kamron N
- Kasilian, Melissa
- Mahroo, Omar A R
- Tanna, Preena
- Kalitzeos, Angelos
- Robson, Anthony G
- Tsunoda, Kazushige
- Iwata, Takeshi
- Moore, Anthony T
- Fujinami, Kaoru
- Michaelides, Michel
Producer: 20190816
In:
Ophthalmology vol. 125
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3040.
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Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development. [electronic resource] by
- Baetens, Dorien
- Güran, Tülay
- Mendonca, Berenice B
- Gomes, Nathalia L
- De Cauwer, Lode
- Peelman, Frank
- Verdin, Hannah
- Vuylsteke, Marnik
- Van der Linden, Malaïka
- Atay, Zeynep
- Bereket, Abdullah
- de Krijger, Ronald R
- Preter, Katleen de
- Domenice, Sorahia
- Turan, Serap
- Stoop, Hans
- Looijenga, Leendert H
- De Bosscher, Karolien
- Cools, Martine
- De Baere, Elfride
Producer: 20181211
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 20
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