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2821.
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A Nonsynonymous Variant in the GOLM1 Gene in Cutaneous Malignant Melanoma. [electronic resource] by
- Teerlink, Craig C
- Huff, Chad
- Stevens, Jeff
- Yu, Yao
- Holmen, Sheri L
- Silvis, Mark R
- Trombetti, Kirby
- Zhao, Hua
- Grossman, Douglas
- Farnham, James M
- Wen, Jingran
- Facelli, Julio C
- Thomas, Alun
- Babst, Markus
- Florell, Scott R
- Meyer, Laurence
- Zone, John J
- Leachman, Sancy
- Cannon-Albright, Lisa A
Producer: 20190930
In:
Journal of the National Cancer Institute vol. 110
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2822.
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AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant. [electronic resource] by
- Szczałuba, Krzysztof
- Mierzewska, Hanna
- Śmigiel, Robert
- Kosińska, Joanna
- Koppolu, Agnieszka
- Biernacka, Anna
- Stawiński, Piotr
- Pollak, Agnieszka
- Rydzanicz, Małgorzata
- Płoski, Rafał
Producer: 20201228
In:
Journal of applied genetics vol. 61
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2823.
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2824.
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Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. [electronic resource] by
- Wortmann, Saskia B
- Meunier, Brigitte
- Mestek-Boukhibar, Lamia
- van den Broek, Florence
- Maldonado, Elaina M
- Clement, Emma
- Weghuber, Daniel
- Spenger, Johannes
- Jaros, Zdenek
- Taha, Fatma
- Yue, Wyatt W
- Heales, Simon J
- Davison, James E
- Mayr, Johannes A
- Rahman, Shamima
Producer: 20200417
In:
American journal of human genetics vol. 106
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2825.
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Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis. [electronic resource] by
- Wong, Karen H Y
- Levy-Sakin, Michal
- Ma, Walfred
- Gonzaludo, Nina
- Mak, Angel C Y
- Vaka, Dedeepya
- Poon, Annie
- Chu, Catherine
- Lao, Richard
- Balamir, Melek
- Grenville, Zoe
- Wong, Nicolas
- Kane, John P
- Kwok, Pui-Yan
- Malloy, Mary J
- Pullinger, Clive R
Producer: 20200623
In:
Molecular genetics & genomic medicine vol. 7
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2826.
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Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing. [electronic resource] by
- Arindrarto, Wibowo
- Borràs, Daniel M
- de Groen, Ruben A L
- van den Berg, Redmar R
- Locher, Irene J
- van Diessen, Saskia A M E
- van der Holst, Rosalie
- van der Meijden, Edith D
- Honders, M Willy
- de Leeuw, Rick H
- Verlaat, Wina
- Jedema, Inge
- Kroes, Wilma G M
- Knijnenburg, Jeroen
- van Wezel, Tom
- Vermaat, Joost S P
- Valk, Peter J M
- Janssen, Bart
- de Knijff, Peter
- van Bergen, Cornelis A M
- van den Akker, Erik B
- Hoen, Peter A C 't
- Kiełbasa, Szymon M
- Laros, Jeroen F J
- Griffioen, Marieke
- Veelken, Hendrik
Producer: 20210113
In:
Leukemia vol. 35
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2827.
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A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome. [electronic resource] by
- Xie, Hua
- Li, Xiaoyan
- Peng, Jiping
- Chen, Qian
- Gao, ZhiJie
- Song, Xiaozhen
- Li, WeiYu
- Xiao, Jianqiu
- Li, Caihua
- Zhang, Ting
- Gusella, James F
- Zhong, Jianmin
- Chen, Xiaoli
Producer: 20181107
In:
Scientific reports vol. 7
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2828.
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DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. [electronic resource] by
- Hartill, Verity L
- van de Hoek, Glenn
- Patel, Mitali P
- Little, Rosie
- Watson, Christopher M
- Berry, Ian R
- Shoemark, Amelia
- Abdelmottaleb, Dina
- Parkes, Emma
- Bacchelli, Chiara
- Szymanska, Katarzyna
- Knoers, Nine V
- Scambler, Peter J
- Ueffing, Marius
- Boldt, Karsten
- Yates, Robert
- Winyard, Paul J
- Adler, Beryl
- Moya, Eduardo
- Hattingh, Louise
- Shenoy, Anil
- Hogg, Claire
- Sheridan, Eamonn
- Roepman, Ronald
- Norris, Dominic
- Mitchison, Hannah M
- Giles, Rachel H
- Johnson, Colin A
Producer: 20190107
In:
Human molecular genetics vol. 27
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2829.
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Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. [electronic resource] by
- Nakayama, Tojo
- Wu, Jiang
- Galvin-Parton, Patricia
- Weiss, Jody
- Andriola, Mary R
- Hill, R Sean
- Vaughan, Dylan J
- El-Quessny, Malak
- Barry, Brenda J
- Partlow, Jennifer N
- Barkovich, A James
- Ling, Jiqiang
- Mochida, Ganeshwaran H
Producer: 20180510
In:
Human mutation vol. 38
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2830.
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Exome sequencing of primary breast cancers with paired metastatic lesions reveals metastasis-enriched mutations in the A-kinase anchoring protein family (AKAPs). [electronic resource] by
- Kjällquist, Una
- Erlandsson, Rikard
- Tobin, Nicholas P
- Alkodsi, Amjad
- Ullah, Ikram
- Stålhammar, Gustav
- Karlsson, Eva
- Hatschek, Thomas
- Hartman, Johan
- Linnarsson, Sten
- Bergh, Jonas
Producer: 20180827
In:
BMC cancer vol. 18
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2831.
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2832.
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iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations. [electronic resource] by
- Kwon, Erika M
- Connelly, John P
- Hansen, Nancy F
- Donovan, Frank X
- Winkler, Thomas
- Davis, Brian W
- Alkadi, Halah
- Chandrasekharappa, Settara C
- Dunbar, Cynthia E
- Mullikin, James C
- Liu, Paul
Producer: 20180412
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 114
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2833.
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Morpholino-based correction of hypomorphic ZAP70 mutation in an adult with combined immunodeficiency. [electronic resource] by
- Gavino, Christina
- Landekic, Marija
- Zeng, Jibin
- Wu, Ning
- Jung, Sungmi
- Zhong, Ming-Chao
- Cohen-Blanchet, Alexis
- Langelier, Mélanie
- Neyret, Odile
- Lejtenyi, Duncan
- Rochefort, Claudia
- Cotton-Montpetit, Judith
- McCusker, Christine
- Mazer, Bruce
- Veillette, André
- Vinh, Donald C
Producer: 20190408
In:
The Journal of allergy and clinical immunology vol. 139
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2834.
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2835.
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An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a [electronic resource] by
- Patel, Ronak M
- Liu, David
- Gonzaga-Jauregui, Claudia
- Jhangiani, Shalini
- Lu, James T
- Sutton, V Reid
- Fernbach, Susan D
- Azamian, Mahshid
- White, Lisa
- Edmond, Jane C
- Paysse, Evelyn A
- Belmont, John W
- Muzny, Donna
- Lupski, James R
- Gibbs, Richard A
- Lewis, Richard Alan
- Lee, Brendan H
- Lalani, Seema R
- Campeau, Philippe M
Producer: 20171120
In:
Cold Spring Harbor molecular case studies vol. 3
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2836.
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2837.
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2838.
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Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3. [electronic resource] by
- Ansar, Muhammad
- Chung, Hyunglok
- Waryah, Yar M
- Makrythanasis, Periklis
- Falconnet, Emilie
- Rao, Ali Raza
- Guipponi, Michel
- Narsani, Ashok K
- Fingerhut, Ralph
- Santoni, Federico A
- Ranza, Emmanuelle
- Waryah, Ali M
- Bellen, Hugo J
- Antonarakis, Stylianos E
Producer: 20191203
In:
Human molecular genetics vol. 27
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2839.
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Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy. [electronic resource] by
- Stephen, Joshi
- Nampoothiri, Sheela
- Banerjee, Aditi
- Tolman, Nathanial J
- Penninger, Josef Martin
- Elling, Ullrich
- Agu, Chukwuma A
- Burke, John D
- Devadathan, Kalpana
- Kannan, Rajesh
- Huang, Yan
- Steinbach, Peter J
- Martinis, Susan A
- Gahl, William A
- Malicdan, May Christine V
Producer: 20190326
In:
Human genetics vol. 137
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2840.
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Mutational landscape of penile squamous cell carcinoma in a Chinese population. [electronic resource] by
- Wang, Yonghua
- Wang, Ke
- Chen, Yuanbin
- Zhou, Juan
- Liang, Ye
- Yang, Xuecheng
- Li, Xiaoqi
- Cao, Yanwei
- Wang, Dong
- Luo, Lei
- Li, Bin
- Li, Dan
- Wang, Liping
- Liang, Zhijuan
- Gao, Chengwen
- Wang, Qifeng
- Lv, Qiang
- Li, Zhiqiang
- Shi, Yongyong
- Niu, Haitao
Producer: 20200113
In:
International journal of cancer vol. 145
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