Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation by John Hoon Rim, Yo Jun Choi, Heon Yung Gee

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Autism spectrum disorder and epileptic encephalopathy: common causes, many questions by Siddharth Srivastava, Mustafa Sahin

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An Overview of Canine Inherited Neurological Disorders with Known Causal Variants by Vlad Cocostîrc, Anamaria Ioana Paștiu, Dana Liana Pusta

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Computational identification of disease models through cross-species phenotype comparison by Pilar Cacheiro, Diego Pava, Helen Parkinson, Maya VanZanten, Robert Wilson, Osman Gunes, the International Mouse Phenotyping Consortium, Damian Smedley

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SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo by Antonio Marcondes Lerario, Dipika R. Mohan, Luciana Ribeiro Montenegro, Mariana Ferreira de Assis Funari, Mirian Yumie Nishi, Amanda de Moraes Narcizo, Anna Flavia Figueredo Benedetti, Sueli Mieko Oba-Shinjo, Aurélio José Vitorino, Rogério Alexandre Scripnic Xavier dos Santos, Alexander Augusto de Lima Jorge, Luiz Fernando Onuchic, Suely Kazue Nagahashi Marie, Berenice Bilharinho Mendonca

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From Genes to Health‒ Challenges and Opportunities by MUHAMMAD RAMZAN eMANWAR HUSSAIN, Asifullah ekhan, Hussein Sheikh eAli Mohamoud

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Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application by Tahir Atik, Enise Avci Durmusalioglu, Esra Isik, Melis Kose, Seda Kanmaz, Ayca Aykut, Asude Durmaz, Ferda Ozkinay, Ozgur Cogulu

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Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood by Courtney E. French, Helen Dolling, Karyn Mégy, Alba Sanchis-Juan, Ajay Kumar, Isabelle Delon, Matthew Wakeling, Lucy Mallin, Shruti Agrawal, Topun Austin, Florence Walston, Soo-Mi Park, Alasdair Parker, Chinthika Piyasena, Kimberley Bradbury, Sian Ellard, David H. Rowitch, F. Lucy Raymond

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Clinical genomics and precision medicine by Sérgio D. J. Pena, Eduardo Tarazona-Santos

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Applications of long-read sequencing to Mendelian genetics by Francesco Kumara Mastrorosa, Danny E. Miller, Evan E. Eichler

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Longitudinal imaging in Kleefstra syndrome—Brief report and literature review by Giovanni Castellucci, Csaba Juhasz, Aimee F. Luat

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A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR by Yongjun Song, Reham Abdel Haleem Abo Elwafa, Omneya Magdy Omar, Go Hun Seo, Hane Lee

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Burden of Mendelian disorders in a large Middle Eastern biobank by Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A. Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S. Al-Shabeeb Akil, Ramin Badii, Tawfeg Ben-Omran, Bernice Lo, The Qatar Genome Program Research Consortium, Younes Mokrab, Khalid A. Fakhro

Subjects: “…Mendelian disorders…”
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Edgetic perturbation models of human inherited disorders by Quan Zhong, Nicolas Simonis, Qian‐Ru Li, Benoit Charloteaux, Fabien Heuze, Niels Klitgord, Stanley Tam, Haiyuan Yu, Kavitha Venkatesan, Danny Mou, Venus Swearingen, Muhammed A Yildirim, Han Yan, Amélie Dricot, David Szeto, Chenwei Lin, Tong Hao, Changyu Fan, Stuart Milstein, Denis Dupuy, Robert Brasseur, David E Hill, Michael E Cusick, Marc Vidal

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Molecular signatures in Mendelian neurodevelopment: a focus on ubiquitination driven DNA methylation aberrations by Liselot van der Laan, Liselot van der Laan, Nicky ten Voorde, Marcel M. A. M. Mannens, Marcel M. A. M. Mannens, Peter Henneman, Peter Henneman

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Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis by Katalin Komlosi, Olivier Claris, Olivier Claris, Sophie Collardeau-Frachon, Sophie Collardeau-Frachon, Julia Kopp, Ingrid Hausser, Juliette Mazereeuw-Hautier, Nathalie Jonca, Nathalie Jonca, Andreas D. Zimmer, Damien Sanlaville, Damien Sanlaville, Judith Fischer

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GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy by Maya Chopra, Meera E. Modi, Kira A. Dies, Nancy L. Chamberlin, Elizabeth D. Buttermore, Stephanie Jo Brewster, Lisa Prock, Mustafa Sahin

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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder by Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. Micheil Innes, Connie Stumpel, Katrin Õunap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H. Zackai, Sarah E. Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Hanns Lochmüller, Martin R. Higgs, Amalia Goula, Birgitta Bernhard, Danita J. Velasco, Andrew A. Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C. Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E. Jakub, Jamie M. Kramer, Joery den Hoed, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra

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The genetics of hyper IgE syndromes by Randa AlYafie, Randa AlYafie, Dinesh Velayutham, Nicholas van Panhuys, Nicholas van Panhuys, Puthen Veettil Jithesh

Subjects: “…Mendelian disorders…”
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Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery by Sebastiano Aleo, Claudia Cinnante, Sabrina Avignone, Elisabetta Prada, Giulietta Scuvera, Paola Francesca Ajmone, Angelo Selicorni, Maria Antonella Costantino, Fabio Triulzi, Paola Marchisio, Paola Marchisio, Cristina Gervasini, Donatella Milani

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