Results
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21.
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Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. [electronic resource] by
- Alkuraya, Fowzan S
- Cai, Xuyu
- Emery, Carina
- Mochida, Ganeshwaran H
- Al-Dosari, Mohammed S
- Felie, Jillian M
- Hill, R Sean
- Barry, Brenda J
- Partlow, Jennifer N
- Gascon, Generoso G
- Kentab, Amal
- Jan, Mohammad
- Shaheen, Ranad
- Feng, Yuanyi
- Walsh, Christopher A
Producer: 20110815
In:
American journal of human genetics vol. 88
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22.
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Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. [electronic resource] by
- Yu, Timothy W
- Mochida, Ganeshwaran H
- Tischfield, David J
- Sgaier, Sema K
- Flores-Sarnat, Laura
- Sergi, Consolato M
- Topçu, Meral
- McDonald, Marie T
- Barry, Brenda J
- Felie, Jillian M
- Sunu, Christine
- Dobyns, William B
- Folkerth, Rebecca D
- Barkovich, A James
- Walsh, Christopher A
Producer: 20101116
In:
Nature genetics vol. 42
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23.
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Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. [electronic resource] by
- Hills, L Benjamin
- Masri, Amira
- Konno, Kotaro
- Kakegawa, Wataru
- Lam, Anh-Thu N
- Lim-Melia, Elizabeth
- Chandy, Nandini
- Hill, R Sean
- Partlow, Jennifer N
- Al-Saffar, Muna
- Nasir, Ramzi
- Stoler, Joan M
- Barkovich, A James
- Watanabe, Masahiko
- Yuzaki, Michisuke
- Mochida, Ganeshwaran H
Producer: 20140512
In:
Neurology vol. 81
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24.
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A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. [electronic resource] by
- Mochida, Ganeshwaran H
- Ganesh, Vijay S
- Felie, Jillian M
- Gleason, Danielle
- Hill, R Sean
- Clapham, Katie Rose
- Rakiec, Daniel
- Tan, Wen-Hann
- Akawi, Nadia
- Al-Saffar, Muna
- Partlow, Jennifer N
- Tinschert, Sigrid
- Barkovich, A James
- Ali, Bassam
- Al-Gazali, Lihadh
- Walsh, Christopher A
Producer: 20110118
In:
American journal of human genetics vol. 87
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25.
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PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. [electronic resource] by
- Khalil, Raida
- Kenny, Connor
- Hill, R Sean
- Mochida, Ganeshwaran H
- Nasir, Ramzi
- Partlow, Jennifer N
- Barry, Brenda J
- Al-Saffar, Muna
- Egan, Chloe
- Stevens, Christine R
- Gabriel, Stacey B
- Barkovich, A James
- Ellison, Jay W
- Al-Gazali, Lihadh
- Walsh, Christopher A
- Chahrour, Maria H
Producer: 20190923
In:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 177
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26.
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The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. [electronic resource] by
- Kouprina, Natalay
- Pavlicek, Adam
- Collins, N Keith
- Nakano, Megumi
- Noskov, Vladimir N
- Ohzeki, Jun-Ichirou
- Mochida, Ganeshwaran H
- Risinger, John I
- Goldsmith, Paul
- Gunsior, Michelle
- Solomon, Greg
- Gersch, William
- Kim, Jung-Hyun
- Barrett, J Carl
- Walsh, Christopher A
- Jurka, Jerzy
- Masumoto, Hiroshi
- Larionov, Vladimir
Producer: 20051201
In:
Human molecular genetics vol. 14
Availability: No items available.
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27.
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Loss of PCLO function underlies pontocerebellar hypoplasia type III. [electronic resource] by
- Ahmed, Mustafa Y
- Chioza, Barry A
- Rajab, Anna
- Schmitz-Abe, Klaus
- Al-Khayat, Aisha
- Al-Turki, Saeed
- Baple, Emma L
- Patton, Michael A
- Al-Memar, Ali Y
- Hurles, Matthew E
- Partlow, Jennifer N
- Hill, R Sean
- Evrony, Gilad D
- Servattalab, Sarah
- Markianos, Kyriacos
- Walsh, Christopher A
- Crosby, Andrew H
- Mochida, Ganeshwaran H
Producer: 20150706
In:
Neurology vol. 84
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28.
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Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. [electronic resource] by
- Nakayama, Tojo
- Al-Maawali, Almundher
- El-Quessny, Malak
- Rajab, Anna
- Khalil, Samir
- Stoler, Joan M
- Tan, Wen-Hann
- Nasir, Ramzi
- Schmitz-Abe, Klaus
- Hill, R Sean
- Partlow, Jennifer N
- Al-Saffar, Muna
- Servattalab, Sarah
- LaCoursiere, Christopher M
- Tambunan, Dimira E
- Coulter, Michael E
- Elhosary, Princess C
- Gorski, Grzegorz
- Barkovich, A James
- Markianos, Kyriacos
- Poduri, Annapurna
- Mochida, Ganeshwaran H
Producer: 20150729
In:
American journal of human genetics vol. 96
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29.
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CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. [electronic resource] by
- Mochida, Ganeshwaran H
- Ganesh, Vijay S
- de Michelena, Maria I
- Dias, Hugo
- Atabay, Kutay D
- Kathrein, Katie L
- Huang, Hsuan-Ting
- Hill, R Sean
- Felie, Jillian M
- Rakiec, Daniel
- Gleason, Danielle
- Hill, Anthony D
- Malik, Athar N
- Barry, Brenda J
- Partlow, Jennifer N
- Tan, Wen-Hann
- Glader, Laurie J
- Barkovich, A James
- Dobyns, William B
- Zon, Leonard I
- Walsh, Christopher A
Producer: 20130404
In:
Nature genetics vol. 44
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30.
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Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. [electronic resource] by
- Zhang, Xiaochang
- Ling, Jiqiang
- Barcia, Giulia
- Jing, Lili
- Wu, Jiang
- Barry, Brenda J
- Mochida, Ganeshwaran H
- Hill, R Sean
- Weimer, Jill M
- Stein, Quinn
- Poduri, Annapurna
- Partlow, Jennifer N
- Ville, Dorothée
- Dulac, Olivier
- Yu, Tim W
- Lam, Anh-Thu N
- Servattalab, Sarah
- Rodriguez, Jacqueline
- Boddaert, Nathalie
- Munnich, Arnold
- Colleaux, Laurence
- Zon, Leonard I
- Söll, Dieter
- Walsh, Christopher A
- Nabbout, Rima
Producer: 20140530
In:
American journal of human genetics vol. 94
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31.
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Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. [electronic resource] by
- Coulter, Michael E
- Musaev, Damir
- DeGennaro, Ellen M
- Zhang, Xiaochang
- Henke, Katrin
- James, Kiely N
- Smith, Richard S
- Hill, R Sean
- Partlow, Jennifer N
- Kamumbu, A Stacy
- Hatem, Nicole
- Barkovich, A James
- Aziza, Jacqueline
- Chassaing, Nicolas
- Zaki, Maha S
- Sultan, Tipu
- Burglen, Lydie
- Rajab, Anna
- Al-Gazali, Lihadh
- Mochida, Ganeshwaran H
- Harris, Matthew P
- Gleeson, Joseph G
- Walsh, Christopher A
Producer: 20210427
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 22
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32.
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Katanin p80 regulates human cortical development by limiting centriole and cilia number. [electronic resource] by
- Hu, Wen F
- Pomp, Oz
- Ben-Omran, Tawfeg
- Kodani, Andrew
- Henke, Katrin
- Mochida, Ganeshwaran H
- Yu, Timothy W
- Woodworth, Mollie B
- Bonnard, Carine
- Raj, Grace Selva
- Tan, Thong Teck
- Hamamy, Hanan
- Masri, Amira
- Shboul, Mohammad
- Al Saffar, Muna
- Partlow, Jennifer N
- Al-Dosari, Mohammed
- Alazami, Anas
- Alowain, Mohammed
- Alkuraya, Fowzan S
- Reiter, Jeremy F
- Harris, Matthew P
- Reversade, Bruno
- Walsh, Christopher A
Producer: 20150409
In:
Neuron vol. 84
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33.
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METTL23, a transcriptional partner of GABPA, is essential for human cognition. [electronic resource] by
- Reiff, Rachel E
- Ali, Bassam R
- Baron, Byron
- Yu, Timothy W
- Ben-Salem, Salma
- Coulter, Michael E
- Schubert, Christian R
- Hill, R Sean
- Akawi, Nadia A
- Al-Younes, Banan
- Kaya, Namik
- Evrony, Gilad D
- Al-Saffar, Muna
- Felie, Jillian M
- Partlow, Jennifer N
- Sunu, Christine M
- Schembri-Wismayer, Pierre
- Alkuraya, Fowzan S
- Meyer, Brian F
- Walsh, Christopher A
- Al-Gazali, Lihadh
- Mochida, Ganeshwaran H
Producer: 20150126
In:
Human molecular genetics vol. 23
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34.
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The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. [electronic resource] by
- Coulter, Michael E
- Dorobantu, Cristina M
- Lodewijk, Gerrald A
- Delalande, François
- Cianferani, Sarah
- Ganesh, Vijay S
- Smith, Richard S
- Lim, Elaine T
- Xu, C Shan
- Pang, Song
- Wong, Eric T
- Lidov, Hart G W
- Calicchio, Monica L
- Yang, Edward
- Gonzalez, Dilenny M
- Schlaeger, Thorsten M
- Mochida, Ganeshwaran H
- Hess, Harald
- Lee, Wei-Chung Allen
- Lehtinen, Maria K
- Kirchhausen, Tomas
- Haussler, David
- Jacobs, Frank M J
- Gaudin, Raphael
- Walsh, Christopher A
Producer: 20200107
In:
Cell reports vol. 24
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35.
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Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. [electronic resource] by
- Ouyang, Qing
- Nakayama, Tojo
- Baytas, Ozan
- Davidson, Shawn M
- Yang, Chendong
- Schmidt, Michael
- Lizarraga, Sofia B
- Mishra, Sasmita
- Ei-Quessny, Malak
- Niaz, Saima
- Gul Butt, Mirrat
- Imran Murtaza, Syed
- Javed, Afzal
- Chaudhry, Haroon Rashid
- Vaughan, Dylan J
- Hill, R Sean
- Partlow, Jennifer N
- Yoo, Seung-Yun
- Lam, Anh-Thu N
- Nasir, Ramzi
- Al-Saffar, Muna
- Barkovich, A James
- Schwede, Matthew
- Nagpal, Shailender
- Rajab, Anna
- DeBerardinis, Ralph J
- Housman, David E
- Mochida, Ganeshwaran H
- Morrow, Eric M
Producer: 20180125
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 113
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36.
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Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor [electronic resource] by
- Evrony, Gilad D
- Cordero, Dwight R
- Shen, Jun
- Partlow, Jennifer N
- Yu, Timothy W
- Rodin, Rachel E
- Hill, R Sean
- Coulter, Michael E
- Lam, Anh-Thu N
- Jayaraman, Divya
- Gerrelli, Dianne
- Diaz, Diana G
- Santos, Chloe
- Morrison, Victoria
- Galli, Antonella
- Tschulena, Ulrich
- Wiemann, Stefan
- Martel, M Jocelyne
- Spooner, Betty
- Ryu, Steven C
- Elhosary, Princess C
- Richardson, Jillian M
- Tierney, Danielle
- Robinson, Christopher A
- Chibbar, Rajni
- Diudea, Dana
- Folkerth, Rebecca
- Wiebe, Sheldon
- Barkovich, A James
- Mochida, Ganeshwaran H
- Irvine, James
- Lemire, Edmond G
- Blakley, Patricia
- Walsh, Christopher A
Producer: 20180530
In:
Genome research vol. 27
Availability: No items available.
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