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Martin, Paige B. [Author]; Kigoshi-Tansho, Yu [Author]; Sher, Roger B. [Author]; Ravenscroft, Gianina [Author]; Stauffer, Jennifer E. [Author]; Kumar, Rajesh [Author]; Yonashiro, Ryo [Author]; Müller, Tina [Author]; Griffith, Christopher [Author]; Allen, William [Author]; Pehlivan, Davut [Author]; Haral, Tamar [Author]; Zenker, Martin [Author]; Howting, Denise [Author]; Schanze, Denny [Author]; Faqeih, Eissa A. [Author]; Almontashiri, Naif A. M. [Author]; Maroofian, Reza [Author]; Houlden, Henry [Author]; Mazaheri, Neda [Author]; Galehdari, Hamid [Author]; Douglas, Ganka [Author]; Posey, Jennifer E. [Author]; Ryan, Monique [Author]; [...]

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

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15 September 2020

Published in: Nature Communications ; 11(2020) Artikel-Nummer 4625, 12 Seiten
Kirsty McWalter; Ganka Douglas; Amanda Lindy; Jane Juusola; Paul Kruszka

P149: Exome sequencing vs chromosomal microarray for copy number variant detection*

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2024

Published in: Genetics in Medicine Open
Wei Wang; Lindsay Henderson; Julie Scuffins; Lisa Dyer; Lindsay Havens Dyer; Ganka Douglas; Kristin Monaghan; Michelle Morrow; Ludmila Matyakhina

P583: Four cases of mosaic triploidy identified by trio exome sequencing

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2023

Published in: Genetics in Medicine Open
Scuffins, Julie; Keller-Ramey, Jennifer; Dyer, Lindsay; Douglas, Ganka; Torene, Rebecca; Gainullin, Vladimir; Juusola, Jane; Meck, Jeanne; Retterer, Kyle

Uniparental disomy in a population of 32,067 clinical exome trios

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Elsevier BV, 2021

Published in: Genetics in Medicine
Parente, Daniel J.; Garriga, Caryn; Baskin, Berivan; Douglas, Ganka; Cho, Megan T.; Araujo, Gabriel C.; Shinawi, Marwan

Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity

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Wiley, 2017

Published in: American Journal of Medical Genetics Part A
Wen, Yu-Ye; Douglas, Ganka; Hu, Xiafeng; Millham, Michele; Cifuentes, Francisco; Peters, Garrick; Carmack, Condie Edwin; Li, Marilyn

Abstract 3674: Next generation cancer gene sequencing for clinically actionable mutations

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American Association for Cancer Research (AACR), 2012

Published in: Cancer Research
Landsverk, Megan L.; Douglas, Ganka V.; Tang, Sha; Zhang, Victor W.; Wang, Guo-Li; Wang, Jing; Wong, Lee-Jun C.

Diagnostic approaches to apparent homozygosity

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Elsevier BV, 2012

Published in: Genetics in Medicine
Ziegler, Alban; Bader, Patricia; McWalter, Kirsty; Douglas, Ganka; Houdayer, Clara; Bris, Céline; Rouleau, Stephanie; Coutant, Régis; Colin, Estelle; Bonneau, Dominique

Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability

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Wiley, 2019

Published in: Clinical Genetics
Sadikovic, Bekim; Wang, Jing; El-Hattab, Ayman W.; Landsverk, Megan; Douglas, Ganka; Brundage, Ellen K.; Craigen, William J.; Schmitt, Eric S.; Wong, Lee-Jun C.

Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

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Public Library of Science (PLoS), 2017

Published in: PLOS ONE
Tang, Sha; Moonnumakal, Siby P.; Stevens, Blair; Douglas, Ganka; Mason, Sally; Schmitt, Eric S.; Eng, Christine M.; Katz, Marcia; Fang, Ping

Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene

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Elsevier BV, 2013

Published in: Journal of Cystic Fibrosis
Douglas, Ganka V; Wiszniewska, Joanna; Lipson, Mark H; Witt, David R; McDowell, Taryn; Sifry-Platt, Mara; Hirano, Michio; Craigen, William J; Wong, Lee-Jun C

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis

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Springer Science and Business Media LLC, 2011

Published in: Journal of Human Genetics
Sadikovic, Bekim; Wang, Jing; El-Hattab, Ayman; Landsverk, Megan; Douglas, Ganka; Brundage, Ellen K.; Craigen, William J.; Schmitt, Eric S.; Wong, Lee-Jun C.

Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

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Public Library of Science (PLoS), 2010

Published in: PLoS ONE
Nikolova, Ganka; Jabs, Normund; Konstantinova, Irena; Domogatskaya, Anna; Tryggvason, Karl; Sorokin, Lydia; Fässler, Reinhard; Gu, Guoqiang; Gerber, Hans-Peter; Ferrara, Napoleone; Melton, Douglas A.; Lammert, Eckhard

The Vascular Basement Membrane: A Niche for Insulin Gene Expression and β Cell Proliferation

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Elsevier BV, 2006

Published in: Developmental Cell
Ganka Douglas; Jeanne Meck; Lindsay Havens Dyer; Rhonda Brandon; Lisa Dyer; Patricia Fernandez Ferri; Mingjuan Liao; Shuxi Liu; Ludmila Matyakhina; Evica Rajcan-Separovic; Laura Sack; May Sanyoura; Wei Wang; Paul Kruszka

P453: Diagnostic yield of copy number variants by exome sequencing vs chromosomal microarray

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2023

Published in: Genetics in Medicine Open
Cioce, Anna; Bineva-Todd, Ganka; Agbay, Anthony J.; Choi, Junwon; Wood, Thomas M.; Debets, Marjoke F.; Browne, William M.; Douglas, Holly L.; Roustan, Chloe; Tastan, Omur Y.; Kjaer, Svend; Bush, Jacob T.; Bertozzi, Carolyn R.; Schumann, Benjamin

Optimization of Metabolic Oligosaccharide Engineering with Ac4GalNAlk and Ac4GlcNAlk by an Engineered Pyrophosphorylase

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American Chemical Society (ACS), 2021

Published in: ACS Chemical Biology
Douglas, Ganka; Cho, Megan T.; Telegrafi, Aida; Winter, Susan; Carmichael, Jason; Zackai, Elaine H.; Deardorff, Matthew A.; Harr, Margaret; Williams, Linford; Psychogios, Apostolos; Erwin, Angelika L.; Grebe, Theresa; Retterer, Kyle; Juusola, Jane

De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features

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Wiley, 2018

Published in: American Journal of Medical Genetics Part A
Granadillo, Jorge L.; Chung, Wendy K.; Hecht, Leah; Corsten-Janssen, Nicole; Wegner, Daniel; Nij Bijvank, Sebastiaan W.A.; Toler, Tomi L.; Pineda-Alvarez, Daniel E.; Douglas, Ganka; Murphy, Joshua J.; Shimony, Joshua; Shinawi, Marwan

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants

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Hindawi Limited, 2018

Published in: Human Mutation
Shen, Wei; Heeley, Jennifer M.; Carlston, Colleen M.; Acuna‐Hidalgo, Rocio; Nillesen, Willy M.; Dent, Karin M.; Douglas, Ganka V.; Levine, Kara L.; Bayrak‐Toydemir, Pinar; Marcelis, Carlo L.; Shinawi, Marwan; Carey, John C.

The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies

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Wiley, 2017

Published in: American Journal of Medical Genetics Part A
Alfadhel, Majid; Nashabat, Marwan; Qahtani, Hanan Al; Alfares, Ahmed; Mutairi, Fuad Al; Shaalan, Hesham Al; Douglas, Ganka V.; Wierenga, Klaas; Juusola, Jane; Alrifai, Muhammad Talal; Arold, Stefan T.; Alkuraya, Fowzan; Ali, Qais Abu

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

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Springer Science and Business Media LLC, 2016

Published in: Human Genetics
Douglas, Ganka; Axelrad, Marni E.; Brandt, Mary L.; Crabtree, Elizabeth; Dietrich, Jennifer E.; French, Shannon; Gunn, Sheila; Karaviti, Lefkothea; Lopez, Monica E.; Macias, Charles G.; McCullough, Laurence B.; Suresh, Deepa; Sutton, V. Reid

Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team

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Springer Science and Business Media LLC, 2010

Published in: International Journal of Pediatric Endocrinology

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