Genetics for all: Tri-directional research engagement as an equitable framework for international partnerships

por Billawala, Thalia, Taiwo, Toluwani, Hanchard, Neil A.
Publicado 2022

A first-generation genome-wide map of correlated DNA methylation demonstrates highly coordinated and tissue-independent clustering across regulatory regions

por Jajoo, Aarti, Hirschi, Owen, Schulze, Katharina, Guan, Yongtao, Hanchard, Neil A.
Publicado 2023

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 2019

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 2011

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 2019

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 2009

Genetic Variants in Carbohydrate Digestive Enzyme and Transport Genes Associated with Risk of Irritable Bowel Syndrome

por Hong, Hyejeong, Schulze, Katharina V., Copeland, Ian E., Atyam, Manasa, Kamp, Kendra, Hanchard, Neil A., Belmont, John, Ringel-Kulka, Tamar, Heitkemper, Margaret, Shulman, Robert J.
Publicado 2023

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 2012

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 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 2019

Sex-specific phenotypic effects and evolutionary history of an ancient polymorphic deletion of the human growth hormone receptor

por Saitou, Marie, Resendez, Skyler, Pradhan, Apoorva J., Wu, Fuguo, Lie, Natasha C., Hall, Nancy J., Zhu, Qihui, Reinholdt, Laura, Satta, Yoko, Speidel, Leo, Nakagome, Shigeki, Hanchard, Neil A., Churchill, Gary, Lee, Charles, Atilla-Gokcumen, G. Ekin, Mu, Xiuqian, Gokcumen, Omer
Publicado 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 2019

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 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 2019

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

por Li, Alexander H., Hanchard, Neil A., Furthner, Dieter, Fernbach, Susan, Azamian, Mahshid, Nicosia, Annarita, Rosenfeld, Jill, Muzny, Donna, D’Alessandro, Lisa C. A., Morris, Shaine, Jhangiani, Shalini, Parekh, Dhaval R., Franklin, Wayne J., Lewin, Mark, Towbin, Jeffrey A., Penny, Daniel J., Fraser, Charles D., Martin, James F., Eng, Christine, Lupski, James R., Gibbs, Richard A., Boerwinkle, Eric, Belmont, John W.
Publicado 2017

Unmapped exome reads implicate a role for Anelloviridae in childhood HIV-1 long-term non-progression

por Mwesigwa, Savannah, Williams, Lesedi, Retshabile, Gaone, Katagirya, Eric, Mboowa, Gerald, Mlotshwa, Busisiwe, Kyobe, Samuel, Kateete, David P., Wampande, Eddie Mujjwiga, Wayengera, Misaki, Mpoloka, Sununguko Wata, Mirembe, Angella N., Kasvosve, Ishmael, Morapedi, Koketso, Kisitu, Grace P., Kekitiinwa, Adeodata R., Anabwani, Gabriel, Joloba, Moses L., Matovu, Enock, Mulindwa, Julius, Noyes, Harry, Botha, Gerrit, Brown, Chester W., Mardon, Graeme, Matshaba, Mogomotsi, Hanchard, Neil A.
Publicado 2021

A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C

por Huang, Huiyan, Pan, Jiehong, Spielberg, David R., Hanchard, Neil A., Scott, Daryl A., Burrage, Lindsay C., Dai, Hongzheng, Murdock, David, Rosenfeld, Jill A., Mohammad, Ariz, Huang, Tao, Lindsey, Anika G., Kim, Hyori, Chen, Jian, Ramu, Avinash, Morrison, Stephanie A., Dawson, Zachary D., Hu, Alex Z., Tycksen, Eric, Silverman, Gary A., Baldridge, Dustin, Wambach, Jennifer A., Pak, Stephen C., Brody, Steven L., Schedl, Tim
Publicado 2022

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

por Asselin, Laure, Rivera Alvarez, José, Heide, Solveig, Bonnet, Camille S., Tilly, Peggy, Vitet, Hélène, Weber, Chantal, Bacino, Carlos A., Baranaño, Kristin, Chassevent, Anna, Dameron, Amy, Faivre, Laurence, Hanchard, Neil A., Mahida, Sonal, McWalter, Kirsty, Mignot, Cyril, Nava, Caroline, Rastetter, Agnès, Streff, Haley, Thauvin-Robinet, Christel, Weiss, Marjan M., Zapata, Gladys, Zwijnenburg, Petra J. G., Saudou, Frédéric, Depienne, Christel, Golzio, Christelle, Héron, Delphine, Godin, Juliette D.
Publicado 2020

Exome Sequencing Reveals a Putative Role for HLA-C*03:02 in Control of HIV-1 in African Pediatric Populations

por Kyobe, Samuel, Mwesigwa, Savannah, Kisitu, Grace P., Farirai, John, Katagirya, Eric, Mirembe, Angella N., Ketumile, Lesego, Wayengera, Misaki, Katabazi, Fred Ashaba, Kigozi, Edgar, Wampande, Edward M., Retshabile, Gaone, Mlotshwa, Busisiwe C., Williams, Lesedi, Morapedi, Koketso, Kasvosve, Ishmael, Kyosiimire-Lugemwa, Jacqueline, Nsangi, Betty, Tsimako-Johnstone, Masego, Brown, Chester W., Joloba, Moses, Anabwani, Gabriel, Bhekumusa, Lukhele, Mpoloka, Sununguko W., Mardon, Graeme, Matshaba, Mogomotsi, Kekitiinwa, Adeodata, Hanchard, Neil A.
Publicado 2021

High-depth African genomes inform human migration and health

por Choudhury, Ananyo, Aron, Shaun, Botigué, Laura R., Sengupta, Dhriti, Botha, Gerrit, Bensellak, Taoufik, Wells, Gordon, Kumuthini, Judit, Shriner, Daniel, Fakim, Yasmina J., Ghoorah, Anisah W., Dareng, Eileen, Odia, Trust, Falola, Oluwadamilare, Adebiyi, Ezekiel, Hazelhurst, Scott, Mazandu, Gaston, Nyangiri, Oscar A., Mbiyavanga, Mamana, Benkahla, Alia, Kassim, Samar K., Mulder, Nicola, Adebamowo, Sally N., Chimusa, Emile R., Muzny, Donna, Metcalf, Ginger, Gibbs, Richard A., Rotimi, Charles, Ramsay, Michèle, Adeyemo, Adebowale A., Lombard, Zané, Hanchard, Neil A.
Publicado 2020