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	2201.	Whole-exome sequencing of a meningeal melanocytic tumour reveals activating CYSLTR2 and EIF1AX hotspot mutations and similarities to uveal melanoma. [electronic resource] by Küsters-Vandevelde, Heidi V N Germans, Menno R Rabbie, Roy Rashid, Mamunur Ten Broek, Roel Blokx, Willeke A M Prinsen, Clemens F M Adams, David J Ter Laan, Mark Producer: 20181126 In: Brain tumor pathology vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2202.	Genetics of intellectual disability in consanguineous families. [electronic resource] by Hu, Hao Kahrizi, Kimia Musante, Luciana Fattahi, Zohreh Herwig, Ralf Hosseini, Masoumeh Oppitz, Cornelia Abedini, Seyedeh Sedigheh Suckow, Vanessa Larti, Farzaneh Beheshtian, Maryam Lipkowitz, Bettina Akhtarkhavari, Tara Mehvari, Sepideh Otto, Sabine Mohseni, Marzieh Arzhangi, Sanaz Jamali, Payman Mojahedi, Faezeh Taghdiri, Maryam Papari, Elaheh Soltani Banavandi, Mohammad Javad Akbari, Saeide Tonekaboni, Seyed Hassan Dehghani, Hossein Ebrahimpour, Mohammad Reza Bader, Ingrid Davarnia, Behzad Cohen, Monika Khodaei, Hossein Albrecht, Beate Azimi, Sarah Zirn, Birgit Bastami, Milad Wieczorek, Dagmar Bahrami, Gholamreza Keleman, Krystyna Vahid, Leila Nouri Tzschach, Andreas Gärtner, Jutta Gillessen-Kaesbach, Gabriele Varaghchi, Jamileh Rezazadeh Timmermann, Bernd Pourfatemi, Fatemeh Jankhah, Aria Chen, Wei Nikuei, Pooneh Kalscheuer, Vera M Oladnabi, Morteza Wienker, Thomas F Ropers, Hans-Hilger Najmabadi, Hossein Producer: 20200302 In: Molecular psychiatry vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2203.	Somatic Embryonic FGFR2 Mutations in Keratinocytic Epidermal Nevi. [electronic resource] by Toll, Agustí Fernández, Luis C Pons, Tirso Groesser, Leopold Sagrera, Ana Carrillo-de Santa Pau, Enrique Vicente, Asunción Baselga, Eulàlia Vázquez, Miguel Beltrán, Sergi Pisano, David G Rueda, Daniel Gut, Marta Pujol, Ramon M Hafner, Christian Gut, Ivo Valencia, Alfonso Real, Francisco X Producer: 20180524 In: The Journal of investigative dermatology vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2204.	Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses. [electronic resource] by Kutsuma, Tomoko Katagiri, Satoshi Hayashi, Takaaki Yoshitake, Kazutoshi Iejima, Daisuke Gekka, Tamaki Kohzaki, Kenichi Mizobuchi, Kei Baba, Yukari Terauchi, Ryo Matsuura, Tomokazu Ueno, Shinji Iwata, Takeshi Nakano, Tadashi Producer: 20190726 In: Documenta ophthalmologica. Advances in ophthalmology vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2205.	Extracting allelic read counts from 250,000 human sequencing runs in Sequence Read Archive. [electronic resource] by Tsui, Brian Dow, Michelle Skola, Dylan Carter, Hannah Producer: 20190823 In: Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing vol. 24 Availability: No items available. Save to lists Add to cart (remove)
	2206.	Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease. [electronic resource] by Vilariño-Güell, Carles Zimprich, Alexander Martinelli-Boneschi, Filippo Herculano, Bruno Wang, Zhe Matesanz, Fuencisla Urcelay, Elena Vandenbroeck, Koen Leyva, Laura Gris, Denis Massaad, Charbel Quandt, Jacqueline A Traboulsee, Anthony L Encarnacion, Mary Bernales, Cecily Q Follett, Jordan Yee, Irene M Criscuoli, Maria G Deutschländer, Angela Reinthaler, Eva M Zrzavy, Tobias Mascia, Elisabetta Zauli, Andrea Esposito, Federica Alcina, Antonio Izquierdo, Guillermo Espino-Paisán, Laura Mena, Jorge Antigüedad, Alfredo Urbaneja-Romero, Patricia Ortega-Pinazo, Jesús Song, Weihong Sadovnick, A Dessa Producer: 20191106 In: PLoS genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2207.	Whole exome sequencing identification of a novel insertion mutation in the phospholipase C ε‑1 gene in a family with steroid resistant inherited nephrotic syndrome. [electronic resource] by Hashmi, Jamil Amjad Safar, Ramziah Ahmed Afzal, Sibtain Albalawi, Alia M Abdu-Samad, Feroz Iqbal, Zafar Basit, Sulman Producer: 20190128 In: Molecular medicine reports vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2208.	Ovarian small cell carcinoma in one of a pair of monozygous twins. [electronic resource] by Fahiminiya, Somayyeh Sabbaghian, Nelly Albrecht, Steffen Nadaf, Javad Callegaro-Filho, Donato Foulkes, William D Producer: 20190826 In: Familial cancer vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2209.	Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics. [electronic resource] by John, Sumi Elsa Antony, Dinu Eaaswarkhanth, Muthukrishnan Hebbar, Prashantha Channanath, Arshad Mohamed Thomas, Daisy Devarajan, Sriraman Tuomilehto, Jaakko Al-Mulla, Fahd Alsmadi, Osama Thanaraj, Thangavel Alphonse Producer: 20191028 In: Scientific reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2210.	KMT2D/MLL2 inactivation is associated with recurrence in adult-type granulosa cell tumors of the ovary. [electronic resource] by Hillman, R Tyler Celestino, Joseph Terranova, Christopher Beird, Hannah C Gumbs, Curtis Little, Latasha Nguyen, Tri Thornton, Rebecca Tippen, Samantha Zhang, Jianhua Lu, Karen H Gershenson, David M Rai, Kunal Broaddus, Russell R Futreal, P Andrew Producer: 20190111 In: Nature communications vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2211.	Establishment of environmentally sensitive DNA methylation states in the very early human embryo. [electronic resource] by Kessler, Noah J Waterland, Robert A Prentice, Andrew M Silver, Matt J Producer: 20190906 In: Science advances vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2212.	Pitfalls of clinical exome and gene panel testing: alternative transcripts. [electronic resource] by Bodian, Dale L Kothiyal, Prachi Hauser, Natalie S Producer: 20200213 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2213.	The Phytopathogenic Fungus Pallidocercospora crystallina-Caused Localized Subcutaneous Phaeohyphomycosis in a Patient with a Homozygous Missense CARD9 Mutation. [electronic resource] by Guo, Yanyang Zhu, Zhenlai Gao, Jixin Zhang, Chen Zhang, Xiujun Dang, Erle Li, Wei Qiao, Hongjiang Liao, Wenjun Wang, Gang Ma, Cuiling Fu, Meng Producer: 20200713 In: Journal of clinical immunology vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2214.	Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect. [electronic resource] by Mathorne, Stine W Ravn, Pernille Hansen, Dorte Beck-Nielsen, Signe S Gjørup, Hans Sørensen, Kristina P Fagerberg, Christina R Producer: 20210607 In: Clinical genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2215.	A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions. [electronic resource] by Brunet, Theresa Westphal, Dominik S Weber, Sandrina Juenger, Hendrik Vlaho, Stefan Hoefele, Julia Meitinger, Thomas Rieger-Fackeldey, Esther Wagner, Matias Producer: 20200601 In: Gene vol. 742 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2216.	A case report of NPHP1 deletion in Chinese twins with nephronophthisis. [electronic resource] by Chen, Feng Dai, Limeng Zhang, Jun Li, Furong Cheng, Jinbo Zhao, Jinghong Zhang, Bo Producer: 20200716 In: BMC medical genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2217.	Whole exome sequencing reveals activating JAK1 and STAT3 mutations in breast implant-associated anaplastic large cell lymphoma anaplastic large cell lymphoma. [electronic resource] by Blombery, Piers Thompson, Ella R Jones, Kate Arnau, Gisela Mir Lade, Stephen Markham, John F Li, Jason Deva, Anand Johnstone, Ricky W Khot, Amit Prince, H Miles Westerman, David Producer: 20180228 In: Haematologica vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2218.	Novel CHM mutations identified in Chinese families with Choroideremia. [electronic resource] by Cai, Xue-Bi Huang, Xiu-Feng Tong, Yi Lu, Qin-Kang Jin, Zi-Bing Producer: 20180417 In: Scientific reports vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2219.	Rare germline variants in known melanoma susceptibility genes in familial melanoma. [electronic resource] by Goldstein, Alisa M Xiao, Yanzi Sampson, Joshua Zhu, Bin Rotunno, Melissa Bennett, Hunter Wen, Yixuan Jones, Kristine Vogt, Aurelie Burdette, Laurie Luo, Wen Zhu, Bin Yeager, Meredith Hicks, Belynda Han, Jiali De Vivo, Immaculata Koutros, Stella Andreotti, Gabriella Beane-Freeman, Laura Purdue, Mark Freedman, Neal D Chanock, Stephen J Tucker, Margaret A Yang, Xiaohong R Producer: 20180720 In: Human molecular genetics vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2220.	Exome Pool-Seq in neurodevelopmental disorders. [electronic resource] by Popp, Bernt Ekici, Arif B Thiel, Christian T Hoyer, Juliane Wiesener, Antje Kraus, Cornelia Reis, André Zweier, Christiane Producer: 20180723 In: European journal of human genetics : EJHG vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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