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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Shinawi, Marwan ; Liu, Pengfei ; Kang, Sung-Hae L ; Shen, Joseph ; Belmont, John W ; Scott, Daryl A ; Probst, Frank J ; Craigen, William J ; Graham, Brett H ; Pursley, Amber ; Clark, Gary ; Lee, Jennifer ; Proud, Monica ; Stocco, Amber ; Rodriguez, Diana L ; Kozel, Beth A ; Sparagana, Steven ; Roeder, Elizabeth R ; McGrew, Susan G ; Kurczynski, Thaddeus W ; Allison, Leslie J ; Amato, Stephen ; Savage, Sarah ; Patel, Ankita ; Stankiewicz, Pawel ; Beaudet, Arthur L ; Cheung, Sau Wai ; Lupski, James R

Journal of medical genetics, 2010-05, Vol.47 (5), p.332-341 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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2
Transcriptional profiling of mouse peripheral nerves to the single-cell level to build a sciatic nerve ATlas (SNAT)
Transcriptional profiling of mouse peripheral nerves to the single-cell level to build a sciatic nerve ATlas (SNAT)
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Transcriptional profiling of mouse peripheral nerves to the single-cell level to build a sciatic nerve ATlas (SNAT)

Gerber, Daniel ; Pereira, Jorge A ; Gerber, Joanne ; Tan, Ge ; Dimitrieva, Slavica ; Yángüez, Emilio ; Suter, Ueli

eLife, 2021-04, Vol.10 [Periódico revisado por pares]

England: eLife Science Publications, Ltd

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3
Activation of a neural stem cell transcriptional program in parenchymal astrocytes
Activation of a neural stem cell transcriptional program in parenchymal astrocytes
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Activation of a neural stem cell transcriptional program in parenchymal astrocytes

Magnusson, Jens P ; Zamboni, Margherita ; Santopolo, Giuseppe ; Mold, Jeff E ; Barrientos-Somarribas, Mauricio ; Talavera-Lopez, Carlos ; Andersson, Björn ; Frisén, Jonas

eLife, 2020-08, Vol.9 [Periódico revisado por pares]

England: eLife Science Publications, Ltd

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4
Overlap between genetic variants associated with schizophrenia spectrum disorders and intelligence quotient: a systematic review
Overlap between genetic variants associated with schizophrenia spectrum disorders and intelligence quotient: a systematic review
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Overlap between genetic variants associated with schizophrenia spectrum disorders and intelligence quotient: a systematic review

Murillo-García, Nancy ; Barrio-Martínez, Sara ; Setién-Suero, Esther ; Soler, Jordi ; Papiol, Sergi ; Fatjó-Vilas, Mar ; Ayesa-Arriola, Rosa

Journal of psychiatry & neuroscience, 2022-11, Vol.47 (6), p.E393-E408 [Periódico revisado por pares]

Canada: CMA Impact Inc

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5
The yellow gene influences Drosophila male mating success through sex comb melanization
The yellow gene influences Drosophila male mating success through sex comb melanization
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The yellow gene influences Drosophila male mating success through sex comb melanization

Massey, Jonathan H ; Chung, Daayun ; Siwanowicz, Igor ; Stern, David L ; Wittkopp, Patricia J

eLife, 2019-10, Vol.8 [Periódico revisado por pares]

England: eLife Science Publications, Ltd

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6
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN
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Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

Maydan, Gal ; Noyman, Iris ; Har-Zahav, Adi ; Neriah, Ziva Ben ; Pasmanik-Chor, Metsada ; Yeheskel, Adva ; Albin-Kaplanski, Adi ; Maya, Idit ; Magal, Nurit ; Birk, Efrat ; Simon, Amos J ; Halevy, Ayelet ; Rechavi, Gideon ; Shohat, Mordechai ; Straussberg, Rachel ; Basel-Vanagaite, Lina

Journal of medical genetics, 2011-06, Vol.48 (6), p.383-389 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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7
Fragmentation patterns and personalized sequencing of cell‐free DNA in urine and plasma of glioma patients
Fragmentation patterns and personalized sequencing of cell‐free DNA in urine and plasma of glioma patients
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Fragmentation patterns and personalized sequencing of cell‐free DNA in urine and plasma of glioma patients

Mouliere, Florent ; Smith, Christopher G ; Heider, Katrin ; Su, Jing ; Pol, Ymke ; Thompson, Mareike ; Morris, James ; Wan, Jonathan C M ; Chandrananda, Dineika ; Hadfield, James ; Grzelak, Marta ; Hudecova, Irena ; Couturier, Dominique‐Laurent ; Cooper, Wendy ; Zhao, Hui ; Gale, Davina ; Eldridge, Matthew ; Watts, Colin ; Brindle, Kevin ; Rosenfeld, Nitzan ; Mair, Richard

EMBO molecular medicine, 2021-08, Vol.13 (8), p.e12881-n/a [Periódico revisado por pares]

England: John Wiley & Sons, Inc

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8
Life expectancy in hereditary cancer predisposing diseases: an observational study
Life expectancy in hereditary cancer predisposing diseases: an observational study
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Life expectancy in hereditary cancer predisposing diseases: an observational study

Wilding, Anna ; Ingham, Sarah Louise ; Lalloo, Fiona ; Clancy, Tara ; Huson, Susan M ; Moran, Anthony ; Evans, D Gareth

Journal of medical genetics, 2012-04, Vol.49 (4), p.264-269 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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9
Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis
Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis
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Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis

Li, Jingyun ; Zhu, Xilin ; Wang, Xin ; Sun, Wei ; Feng, Bing ; Du, Te ; Sun, Bei ; Niu, Fenghe ; Wei, Hua ; Wu, Xiaopan ; Dong, Lei ; Li, Liping ; Cai, Xingqiu ; Wang, Yuping ; Liu, Ying

Journal of medical genetics, 2012-02, Vol.49 (2), p.76-78 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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10
Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axis
Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axis
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Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axis

Ling, Shuo-Chien ; Dastidar, Somasish Ghosh ; Tokunaga, Seiya ; Ho, Wan Yun ; Lim, Kenneth ; Ilieva, Hristelina ; Parone, Philippe A ; Tyan, Sheue-Houy ; Tse, Tsemay M ; Chang, Jer-Cherng ; Platoshyn, Oleksandr ; Bui, Ngoc B ; Bui, Anh ; Vetto, Anne ; Sun, Shuying ; McAlonis-Downes, Melissa ; Han, Joo Seok ; Swing, Debbie ; Kapeli, Katannya ; Yeo, Gene W ; Tessarollo, Lino ; Marsala, Martin ; Shaw, Christopher E ; Tucker-Kellogg, Greg ; La Spada, Albert R ; Lagier-Tourenne, Clotilde ; Da Cruz, Sandrine ; Cleveland, Don W

eLife, 2019-02, Vol.8 [Periódico revisado por pares]

England: eLife Science Publications, Ltd

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