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Volume 3
Main
Human Genome Variation
Volume 3
Human Genome Variation
Volume 3
1
A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome
Kohmoto, Tomohiro
,
Tsuji, Atsumi
,
Morita, Kei-ichi
,
Naruto, Takuya
,
Masuda, Kiyoshi
,
Kashimada, Kenichi
,
Enomoto, Keisuke
,
Morio, Tomohiro
,
Harada, Hiroyuki
,
Imoto, Issei
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 538 KB
Your tags:
english, 2016
2
A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome
Watanabe, Miki
,
Nakagawa, Ryuji
,
Naruto, Takuya
,
Kohmoto, Tomohiro
,
Suga, Ken-ichi
,
Goji, Aya
,
Kagami, Shoji
,
Masuda, Kiyoshi
,
Imoto, Issei
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 450 KB
Your tags:
english, 2016
3
KRIT1 mutations in three Japanese pedigrees with hereditary cavernous malformation
Hirota, Kengo
,
Akagawa, Hiroyuki
,
Kikuchi, Asami
,
Oka, Hideki
,
Hino, Akihiko
,
Mitsuyama, Tetsuryu
,
Sasaki, Toshiyuki
,
Onda, Hideaki
,
Kawamata, Takakazu
,
Kasuya, Hidetoshi
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 1.07 MB
Your tags:
english, 2016
4
Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly
Wentzensen, Ingrid M
,
Johnston, Jennifer J
,
Patton, John H
,
Graham, John M
,
Sapp, Julie C
,
Biesecker, Leslie G
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 1.42 MB
Your tags:
english, 2016
5
A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome
Kohmoto, Tomohiro
,
Shono, Miki
,
Naruto, Takuya
,
Watanabe, Miki
,
Suga, Ken-ichi
,
Nakagawa, Ryuji
,
Kagami, Shoji
,
Masuda, Kiyoshi
,
Imoto, Issei
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 363 KB
Your tags:
english, 2016
6
Identification of ITPA on chromosome 20 as a susceptibility gene for young-onset tuberculosis
Nakauchi, Ayaka
,
Wong, Jing Hao
,
Mahasirimongkol, Surakameth
,
Yanai, Hideki
,
Yuliwulandari, Rika
,
Mabuchi, Akihiko
,
Liu, Xiaoxi
,
Mushiroda, Taisei
,
Wattanapokayakit, Sukanya
,
Miyagawa, Taku
,
Keicho, N
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 605 KB
Your tags:
english, 2016
7
p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis
Tian, Xinlun
,
Liu, Yaping
,
Yang, Jun
,
Wang, Han
,
Liu, Tao
,
Xu, Wenbing
,
Li, Xue
,
Zhu, Yuanjue
,
Xu, Kai-Feng
,
Zhang, Xue
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 937 KB
Your tags:
english, 2016
8
A catalog of hemizygous variation in 127 22q11 deletion patients
Hestand, Matthew S
,
Nowakowska, Beata A
,
Vergaelen, Elfi
,
Van Houdt, Jeroen
,
Dehaspe, Luc
,
Suhl, Joshua A
,
Del-Favero, Jurgen
,
Mortier, Geert
,
Zackai, Elaine
,
Swillen, Ann
,
Devriendt, Koenraad
,
Gur, R
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 2.01 MB
Your tags:
english, 2016
9
Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole
Rezaei, Maryam
,
Nguyen, Ngoc Minh Phuong
,
Foroughinia, Leila
,
Dash, Pratima
,
Ahmadpour, Fatemeh
,
Verma, Ishwar Chandra
,
Slim, Rima
,
Fardaei, Majid
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 972 KB
Your tags:
english, 2016
10
Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome
Takagi, Masaki
,
Miyoshi, Tatsuya
,
Nagashima, Yuka
,
Shibata, Nao
,
Yagi, Hiroko
,
Fukuzawa, Ryuji
,
Hasegawa, Tomonobu
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 880 KB
Your tags:
english, 2016
11
Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals
Stittrich, Anna B
,
Ashworth, Justin
,
Shi, Mude
,
Robinson, Max
,
Mauldin, Denise
,
Brunkow, Mary E
,
Biswas, Shameek
,
Kim, Jin-Man
,
Kwon, Ki-Sun
,
Jung, Jae U
,
Galas, David
,
Serikawa, Kyle
,
Duerr, Richard
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 1.86 MB
Your tags:
english, 2016
12
Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I
Breen, Catherine
,
Mercer, Jean
,
Jones, Simon A
,
Jahic, Amir
,
Heptinstall, Lesley
,
Tylee, Karen
,
Newman, William G
,
Beetz, Christian
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 606 KB
Your tags:
english, 2016
13
The Qatar genome: a population-specific tool for precision medicine in the Middle East
Fakhro, Khalid A
,
Staudt, Michelle R
,
Ramstetter, Monica Denise
,
Robay, Amal
,
Malek, Joel A
,
Badii, Ramin
,
Al-Marri, Ajayeb Al-Nabet
,
Khalil, Charbel Abi
,
Al-Shakaki, Alya
,
Chidiac, Omar
,
Stadler, Dor
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 372 KB
Your tags:
english, 2016
14
Pancreatic developmental defect evaluated by celiac artery angiography in a patient with MODY5
Iwasaki, Naoko
,
Tsurumi, Masashi
,
Asai, Kuniya
,
Shimuzu, Wataru
,
Watanabe, Atsushi
,
Ogata, Makiko
,
Takizawa, Miho
,
Ide, Risa
,
Yamamoto, Toshiyuki
,
Saito, Kayoko
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 1007 KB
Your tags:
english, 2016
15
Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits
Vecchio-Pagán, Briana
,
Blackman, Scott M
,
Lee, Melissa
,
Atalar, Melis
,
Pellicore, Matthew J
,
Pace, Rhonda G
,
Franca, Arianna L
,
Raraigh, Karen S
,
Sharma, Neeraj
,
Knowles, Michael R
,
Cutting, Garry R
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 1.92 MB
Your tags:
english, 2016
16
Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2
Yoshimoto, Satomi
,
Harahap, Nur Imma Fatimah
,
Hamamura, Yuko
,
Ar Rochmah, Mawaddah
,
Shima, Ai
,
Morisada, Naoya
,
Shinohara, Masakazu
,
Saito, Toshio
,
Saito, Kayoko
,
Lai, Poh San
,
Matsuo, Masafumi
,
Awano
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 256 KB
Your tags:
english, 2016
17
Development of a prediction system for anti-tuberculosis drug-induced liver injury in Japanese patients
Mushiroda, Taisei
,
Yanai, Hideki
,
Yoshiyama, Takashi
,
Sasaki, Yuka
,
Okumura, Masao
,
Ogata, Hideo
,
Tokunaga, Katsushi
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 245 KB
Your tags:
english, 2016
18
Integrated small copy number variations and epigenome maps of disorders of sex development
Amarillo, Ina E
,
Nievera, Isabelle
,
Hagan, Andrew
,
Huchthagowder, Vishwa
,
Heeley, Jennifer
,
Hollander, Abby
,
Koenig, Joel
,
Austin, Paul
,
Wang, Ting
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 2.72 MB
Your tags:
english, 2016
19
A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly
Morisada, Naoya
,
Ioroi, Tomoaki
,
Taniguchi-Ikeda, Mariko
,
Juan Ye, Ming
,
Okamoto, Nobuhiko
,
Yamamoto, Toshiyuki
,
Iijima, Kazumoto
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 852 KB
Your tags:
english, 2016
20
Novel variation at chr11p13 associated with cystic fibrosis lung disease severity
Dang, Hong
,
Gallins, Paul J
,
Pace, Rhonda G
,
Guo, Xue-liang
,
Stonebraker, Jaclyn R
,
Corvol, Harriet
,
Cutting, Garry R
,
Drumm, Mitchell L
,
Strug, Lisa J
,
Knowles, Michael R
,
O’Neal, Wanda K
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 1.91 MB
Your tags:
english, 2016
21
Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach
Yamamoto, Toshiyuki
,
Shimojima, Keiko
,
Ondo, Yumiko
,
Imai, Katsumi
,
Chong, Pin Fee
,
Kira, Ryutaro
,
Amemiya, Mitsuhiro
,
Saito, Akira
,
Okamoto, Nobuhiko
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 1.12 MB
Your tags:
english, 2016
22
Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson–Golabi–Behmel syndrome
Shimojima, Keiko
,
Ondo, Yumiko
,
Nishi, Eriko
,
Mizuno, Seiji
,
Ito, Miharu
,
Ioi, Aya
,
Shimizu, Mariko
,
Sato, Maho
,
Inoue, Masami
,
Okamoto, Nobuhiko
,
Yamamoto, Toshiyuki
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 582 KB
Your tags:
english, 2016
23
Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation
Duran, Daniel
,
Jin, Sheng Chih
,
DeSpenza, Tyrone
,
Nelson-Williams, Carol
,
Cogal, Andrea G
,
Abrash, Elizabeth W
,
Harris, Peter C
,
Lieske, John C
,
Shimshak, Serena JE
,
Mane, Shrikant
,
Bilguvar, Kaya
,
Di
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 861 KB
Your tags:
english, 2016
24
Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation
Čulić, Vida
,
Miyake, Noriko
,
Janković, Sunčana
,
Petrović, Davor
,
Šimunović, Marko
,
Đapić, Tomislav
,
Shiina, Masaaki
,
Ogata, Kazuhiro
,
Matsumoto, Naomichi
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 936 KB
Your tags:
english, 2016
25
Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families
Yan, Wenjin
,
Dai, Jin
,
Xu, Zhihong
,
Shi, Dongquan
,
Chen, Dongyang
,
Xu, Xingquan
,
Song, Kai
,
Yao, Yao
,
Li, Lan
,
Ikegawa, Shiro
,
Teng, Huajian
,
Jiang, Qing
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 995 KB
Your tags:
english, 2016
26
Polymorphisms in the TMEM132D region are associated with panic disorder in HLA-DRB1*13:02-negative individuals of a Japanese population
Shimada-Sugimoto, Mihoko
,
Otowa, Takeshi
,
Miyagawa, Taku
,
Khor, Seik-Soon
,
Omae, Yosuke
,
Toyo-oka, Licht
,
Sugaya, Nagisa
,
Kawamura, Yoshiya
,
Umekage, Tadashi
,
Miyashita, Akinori
,
Kuwano, Ryozo
,
Kaiya,
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 524 KB
Your tags:
english, 2016
27
Characterization of a novel large deletion caused by double-stranded breaks in 6-bp microhomologous sequences of intron 11 and 12 of the F13A1 gene
Thomas, Anne
,
Ivaškevičius, Vytautas
,
Zawadzki, Christophe
,
Goudemand, Jenny
,
Biswas, Arijit
,
Oldenburg, Johannes
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 1.19 MB
Your tags:
english, 2016
28
Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals
Liu, Xiaoxi
,
Kawashima, Minae
,
Miyagawa, Taku
,
Otowa, Takeshi
,
Latt, Khun Zaw
,
Thiri, Myo
,
Nishida, Hisami
,
Sugiyama, Toshiro
,
Tsurusaki, Yoshinori
,
Matsumoto, Naomichi
,
Mabuchi, Akihiko
,
Kato, Nobuma
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 58 KB
Your tags:
english, 2016
29
A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia
Luo, Huaichao
,
Yu, Sisi
,
Lin, Ying
,
Guo, Qi
,
Ma, Rongchuan
,
Ye, Zimeng
,
Di, Yanan
,
Li, Ning
,
Miao, Yuanying
,
Zhou, Yu
,
Li, Yuanfeng
,
Yang, Jiyun
,
Yang, Zhenglin
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 1.05 MB
Your tags:
english, 2016
30
Detection of 1p36 deletion by clinical exome-first diagnostic approach
Watanabe, Miki
,
Hayabuchi, Yasunobu
,
Ono, Akemi
,
Naruto, Takuya
,
Horikawa, Hideaki
,
Kohmoto, Tomohiro
,
Masuda, Kiyoshi
,
Nakagawa, Ryuji
,
Ito, Hiromichi
,
Kagami, Shoji
,
Imoto, Issei
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 845 KB
Your tags:
english, 2016
31
Characterization of the STK11 splicing variant as a normal splicing isomer in a patient with Peutz–Jeghers syndrome harboring genomic deletion of the STK11 gene
Masuda, Kenta
,
Kobayashi, Yusuke
,
Kimura, Tokuhiro
,
Umene, Kiyoko
,
Misu, Kumiko
,
Nomura, Hiroyuki
,
Hirasawa, Akira
,
Banno, Kouji
,
Kosaki, Kenjiro
,
Aoki, Daisuke
,
Sugano, Kokichi
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 929 KB
Your tags:
english, 2016
32
Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa
Ullah, Inayat
,
Kabir, Firoz
,
Gottsch, Clare Brooks S
,
Naeem, Muhammad Asif
,
Guru, Aditya A
,
Ayyagari, Radha
,
Khan, Shaheen N
,
Riazuddin, Sheikh
,
Akram, Javed
,
Riazuddin, S Amer
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 1.11 MB
Your tags:
english, 2016
33
Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome
Kondo, Hiroyuki
,
Matsushita, Itsuka
,
Nagata, Tatsuo
,
Hayashi, Takaaki
,
Kakinoki, Masashi
,
Uchio, Eiichi
,
Kondo, Mineo
,
Ohji, Masahito
,
Kusaka, Shunji
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 226 KB
Your tags:
english, 2016
34
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent
Rauf, Bushra
,
Irum, Bushra
,
Kabir, Firoz
,
Firasat, Sabika
,
Naeem, Muhammad Asif
,
Khan, Shaheen N
,
Husnain, Tayyab
,
Riazuddin, Sheikh
,
Akram, Javed
,
Riazuddin, S Amer
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 239 KB
Your tags:
english, 2016
35
Genotype–phenotype correlation of PAX6 gene mutations in aniridia
Yokoi, Tadashi
,
Nishina, Sachiko
,
Fukami, Maki
,
Ogata, Tsutomu
,
Hosono, Katsuhiro
,
Hotta, Yoshihiro
,
Azuma, Noriyuki
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 554 KB
Your tags:
english, 2016
36
A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1
Yoshida, Yu
,
Doi, Rieko
,
Adachi, Kaori
,
Nanba, Eiji
,
Kodani, Isamu
,
Ryoke, Kazuo
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 483 KB
Your tags:
english, 2016
37
Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy
Wang, Chunxia
,
Hosono, Katsuhiro
,
Kachi, Shu
,
Suto, Kimiko
,
Nakamura, Makoto
,
Terasaki, Hiroko
,
Miyake, Yozo
,
Hotta, Yoshihiro
,
Minoshima, Shinsei
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 1.20 MB
Your tags:
english, 2016
38
A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder
Takano, Kenichi
,
Ogasawara, Noriko
,
Matsunaga, Tatsuo
,
Mutai, Hideki
,
Sakurai, Akihiro
,
Ishikawa, Aki
,
Himi, Tetsuo
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 1.14 MB
Your tags:
english, 2016
39
Exome-first approach identified a novel gloss deletion associated with Lowe syndrome
Watanabe, Miki
,
Nakagawa, Ryuji
,
Kohmoto, Tomohiro
,
Naruto, Takuya
,
Suga, Ken-ichi
,
Goji, Aya
,
Horikawa, Hideaki
,
Masuda, Kiyoshi
,
Kagami, Shoji
,
Imoto, Issei
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 766 KB
Your tags:
english, 2016
40
A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity
Nakashima, Yasuharu
,
Sakamoto, Yuma
,
Nishimura, Gen
,
Ikegawa, Shiro
,
Iwamoto, Yukihide
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 673 KB
Your tags:
english, 2016
41
A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene
Sangu, Noriko
,
Okamoto, Nobuhiko
,
Shimojima, Keiko
,
Ondo, Yumiko
,
Nishikawa, Masanori
,
Yamamoto, Toshiyuki
Journal:
Human Genome Variation
Year:
2016
Language:
english
File:
PDF, 784 KB
Your tags:
english, 2016
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