A Genome-Wide Screen for Large-Effect Alloimmunization Susceptibility Loci among Red Blood Cell Transfusion Recipients with Sickle Cell Disease

por Hanchard, Neil A., Moulds, Joann M., Belmont, John W., Chen, Alice
Publicado no Transfus Med Hemother (2014)

The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report

por Rankine-Mullings, Angela E., Serjeant, Graham, Ramsay, Zachary, Hanchard, Neil A., Asnani, Monika
Publicado no J Med Case Rep (2019)

Evidence for Extensive Transmission Distortion in the Human Genome

por Zöllner, Sebastian, Wen, Xiaoquan, Hanchard, Neil A., Herbert, Mark A., Ober, Carole, Pritchard, Jonathan K.
Publicado em 2004

UGT1A1 sequence variants and bilirubin levels in early postnatal life: a quantitative approach

por Hanchard, Neil A, Skierka, Jennifer, Weaver, Amy, Karon, Brad S, Matern, Dietrich, Cook, Walter, O'Kane, Dennis J
Publicado em 2011

Whole-exome sequencing of sickle cell disease patients with hyperhemolysis syndrome suggests a role for rare variation in disease predisposition

por Mwesigwa, Savannah, Moulds, Joann M., Chen, Alice, Flanagan, Jonathan, Sheehan, Vivien A., George, Alex, Hanchard, Neil A.
Publicado no Transfusion (2017)

Hydroxyurea-Induced miRNA Expression in Sickle Cell Disease Patients in Africa

por Mnika, Khuthala, Mazandu, Gaston K., Jonas, Mario, Pule, Gift D., Chimusa, Emile R., Hanchard, Neil A., Wonkam, Ambroise
Publicado no Front Genet (2019)

Functional Cellular Analyses Reveal Energy Metabolism Defect and Mitochondrial DNA Depletion in a Case of Mitochondrial Aconitase Deficiency

por Sadat, Roa, Barca, Emanuele, Masand, Ruchi, Donti, Taraka, Naini, Ali, De Vivo, Darryl C., DiMauro, Salvatore, Hanchard, Neil A., Graham, Brett H.
Publicado no Mol Genet Metab (2016)

Screening for Recently Selected Alleles by Analysis of Human Haplotype Similarity

por Hanchard, Neil A., Rockett, Kirk A., Spencer, Chris, Coop, Graham, Pinder, Margaret, Jallow, Muminatou, Kimber, Martin, McVean, Gil, Mott, Richard, Kwiatkowski, Dominic P.
Publicado em 2006

Genetic Variation on Chromosome 6 Influences F Cell Levels in Healthy Individuals of African Descent and HbF Levels in Sickle Cell Patients

por Creary, Lisa E., Ulug, Pinar, Menzel, Stephan, McKenzie, Colin A., Hanchard, Neil A., Taylor, Veronica, Farrall, Martin, Forrester, Terrence E., Thein, Swee Lay
Publicado em 2009

Whole-Exome Sequencing as a diagnostic tool in a child with Atypical Episodic Muscle Weakness

por Hanchard, Neil A., Murdock, David R., Magoulas, Pilar L., Bainbridge, Matthew, Muzny, Donna, Wu, YuanQing, Wang, Min, Lupski, James R., Gibbs, Richard A., Brown, Chester W.
Publicado em 2012

A locus on chromosome 5 shows African ancestry–limited association with alloimmunization in sickle cell disease

por Williams, Lesedi M., Qi, Zhihua, Batai, Ken, Hooker, Stanley, Hall, Nancy J., Machado, Roberto F., Chen, Alice, Campbell-Lee, Sally, Guan, Yongtao, Kittles, Rick, Hanchard, Neil A.
Publicado no Blood Adv (2018)

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

por Hanchard, Neil A, Carvalho, Claudia MB, Bader, Patricia, Thome, Aaron, Omo-Griffith, Lisa, del Gaudio, Daniela, Pehlivan, Davut, Fang, Ping, Schaaf, Christian P, Ramocki, Melissa B, Lupski, James R, Cheung, Sau Wai
Publicado em 2012

Whole-Exome Sequencing Reveals GPIHBP1 Mutations in Infantile Colitis With Severe Hypertriglyceridemia

por Gonzaga-Jauregui, Claudia, Mir, Sabina, Penney, Samantha, Jhangiani, Shalini, Midgen, Craig, Finegold, Milton, Muzny, Donna M., Wang, Min, Bacino, Carlos A., Gibbs, Richard A., Lupski, James R., Kellermayer, Richard, Hanchard, Neil A.
Publicado em 2014

The collaborative African genomics network training program: a trainee perspective on training the next generation of African scientists

por Mlotshwa, Busisiwe C., Mwesigwa, Savannah, Mboowa, Gerald, Williams, Lesedi, Retshabile, Gaone, Kekitiinwa, Adeodata, Wayengera, Misaki, Kyobe, Samuel, Brown, Chester W., Hanchard, Neil A., Mardon, Graeme, Joloba, Moses, Anabwani, Gabriel, Mpoloka, Sununguko W.
Publicado no Genet Med (2017)

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

por Schulze, Katharina V., Szafranski, Przemyslaw, Lesmana, Harry, Hopkin, Robert J., Hamvas, Aaron, Wambach, Jennifer A., Shinawi, Marwan, Zapata, Gladys, Carvalho, Claudia M. B., Liu, Qian, Karolak, Justyna A., Lupski, James R., Hanchard, Neil A., Stankiewicz, Paweł
Publicado no Clin Epigenetics (2019)

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

por Murdock, David R., Dai, Hongzheng, Burrage, Lindsay C., Rosenfeld, Jill A., Ketkar, Shamika, Müller, Michaela F., Yépez, Vicente A., Gagneur, Julien, Liu, Pengfei, Chen, Shan, Jain, Mahim, Zapata, Gladys, Bacino, Carlos A., Chao, Hsiao-Tuan, Moretti, Paolo, Craigen, William J., Hanchard, Neil A., Lee, Brendan
Publicado no J Clin Invest (2021)

Edematous severe acute malnutrition is characterized by hypomethylation of DNA

por Schulze, Katharina V., Swaminathan, Shanker, Howell, Sharon, Jajoo, Aarti, Lie, Natasha C., Brown, Orgen, Sadat, Roa, Hall, Nancy, Zhao, Liang, Marshall, Kwesi, May, Thaddaeus, Reid, Marvin E., Taylor-Bryan, Carolyn, Wang, Xueqing, Belmont, John W., Guan, Yongtao, Manary, Mark J., Trehan, Indi, McKenzie, Colin A., Hanchard, Neil A.
Publicado no Nat Commun (2019)

Assessment of Large Copy Number Variants in Patients with Apparently Isolated Congenital Left-sided Cardiac Lesions Reveals Clinically Relevant Genomic Events

por Hanchard, Neil A., Umana, Luis A, D’Alessandro, Lisa, Azamian, Mahshid, Poopola, Mojisola, Morris, Shaine A., Fernbach, Susan, Lalani, Seema R., Towbin, Jeffrey A., Zender, Gloria A., Fitzgerald-Butt, Sara, Garg, Vidu, Bowman, Jessica, Zapata, Gladys, Hernandez, Patricia, Arrington, Cammon B., Furthner, Dieter, Prakash, Siddharth K., Bowles, Neil E., McBride, Kim L., Belmont, John W.
Publicado no Am J Med Genet A (2017)

The Collaborative African Genomics Network (CAfGEN): Applying Genomic technologies to probe host factors important to the progression of HIV and HIV-tuberculosis infection in sub-S...

por Mboowa, Gerald, Mwesigwa, Savannah, Katagirya, Eric, Retshabile, Gaone, Mlotshwa, Busisiwe C., Williams, Lesedi, Kekitiinwa, Adeodata, Kateete, David, Wampande, Eddie, Wayengera, Misaki, Kintu, Betty Nsangi, Kisitu, Grace P., Kyobe, Samuel, Brown, Chester W., Hanchard, Neil A., Mardon, Graeme, Joloba, Moses, Anabwani, Gabriel, Pettitt, Ed, Tsimako-Johnstone, Masego, Kasvosve, Ishmael, Maplanka, Koketso, Mpoloka, Sununguko W., Hlatshwayo, Makhosazana, Matshaba, Mogomotsi
Publicado no AAS Open Res (2018)

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

por Carvalho, Claudia M. B., Coban-Akdemir, Zeynep, Hijazi, Hadia, Yuan, Bo, Pendleton, Matthew, Harrington, Eoghan, Beaulaurier, John, Juul, Sissel, Turner, Daniel J., Kanchi, Rupa S., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Stankiewicz, Pawel, Belmont, John W., Shaw, Chad A., Cheung, Sau Wai, Hanchard, Neil A., Sutton, V. Reid, Bader, Patricia I., Lupski, James R.
Publicado no Genome Med (2019)