PMC Links for Books (Select 5371300) - PMC

Select item 93593171.

El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: further delineation of the phenotype and genotype

Mohammed Almannai, Dana Marafi, Ghada M.H. Abdel-Salam, Maha S. Zaki, Ruizhi Duan, Daniel Calame, Isabella Herman, Felix SHA Levesque, Hasnaa M Elbendary, Ibrahim Hegazy, Wendy K. Chung, Haluk Kavus, Kolsoum Saeidi, Reza Maroofian, Aqeela AlHashim, Ali Al-Otaibi, Asma Al Madhi, Hager M. Aboalseood, Ali Alasmari, Henry Houlden, Joseph G Gleeson, Jill V Hunter, Jennifer E. Posey, James R. Lupski, Ayman W. El-Hattab

Clin Genet. Author manuscript; available in PMC 2023 May 1.

Published in final edited form as: Clin Genet. 2022 May; 101(5-6): 530–540. Published online 2022 Apr 12. doi: 10.1111/cge.14132

PMCID:: PMC9359317

Article PDF–1.2M

Select item 78206212.

A dyadic approach to the delineation of diagnostic entities in clinical genomics

Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne R. Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian Chung, Robin D. Clark, Timothy C. Cox, Cynthia Curry, Mary Beth Palko Dinulos, William B. Dobyns, Philip F. Giampietro, Katta M. Girisha, Ian A. Glass, John M. Graham, Jr., Karen W. Gripp, Chad R. Haldeman-Englert, Bryan D. Hall, A. Micheil Innes, Jennifer M. Kalish, Kim M. Keppler-Noreuil, Kenjiro Kosaki, Beth A. Kozel, Ghayda M. Mirzaa, John J. Mulvihill, Malgorzata J.M. Nowaczyk, Roberta A. Pagon, Kyle Retterer, Alan F. Rope, Pedro A. Sanchez-Lara, Laurie H. Seaver, Joseph T. Shieh, Anne M. Slavotinek, Andrew K. Sobering, Cathy A. Stevens, David A. Stevenson, Tiong Yang Tan, Wen-Hann Tan, Anne C. Tsai, David D. Weaver, Marc S. Williams, Elaine Zackai, Yuri A. Zarate

Am J Hum Genet. 2021 Jan 7; 108(1): 8–15. Published online 2021 Jan 7. doi: 10.1016/j.ajhg.2020.11.013

PMCID:: PMC7820621

Article PDF–202K

Select item 74972893.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Article PDF–2.5M

Select item 54600384.

WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy

Daniela Bakula, Amelie J. Müller, Theresia Zuleger, Zsuzsanna Takacs, Mirita Franz-Wachtel, Ann-Katrin Thost, Daniel Brigger, Mario P. Tschan, Tancred Frickey, Horst Robenek, Boris Macek, Tassula Proikas-Cezanne

Nat Commun. 2017; 8: 15637. Published online 2017 May 31. doi: 10.1038/ncomms15637

PMCID:: PMC5460038

Article PDF–4.5M

Select item 45447535.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Article PDF–960K

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