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

by Angela E. Rankine-Mullings, Graham Serjeant, Zachary Ramsay, Neil A. Hanchard, Monika Asnani
Published 2019-01-01

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

by Khuthala Mnika, Gaston K. Mazandu, Gaston K. Mazandu, Mario Jonas, Gift D. Pule, Emile R. Chimusa, Neil A. Hanchard, Ambroise Wonkam
Published 2019-05-01

Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients.

by Lisa E Creary, Pinar Ulug, Stephan Menzel, Colin A McKenzie, Neil A Hanchard, Veronica Taylor, Martin Farrall, Terrence E Forrester, Swee Lay Thein
Published 2009-01-01

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

by Katharina V. Schulze, Przemyslaw Szafranski, Harry Lesmana, Robert J. Hopkin, Aaron Hamvas, Jennifer A. Wambach, Marwan Shinawi, Gladys Zapata, Claudia M. B. Carvalho, Qian Liu, Justyna A. Karolak, James R. Lupski, Neil A. Hanchard, Paweł Stankiewicz
Published 2019-04-01

Edematous severe acute malnutrition is characterized by hypomethylation of DNA

by Katharina V. Schulze, Shanker Swaminathan, Sharon Howell, Aarti Jajoo, Natasha C. Lie, Orgen Brown, Roa Sadat, Nancy Hall, Liang Zhao, Kwesi Marshall, Thaddaeus May, Marvin E. Reid, Carolyn Taylor-Bryan, Xueqing Wang, John W. Belmont, Yongtao Guan, Mark J. Manary, Indi Trehan, Colin A. McKenzie, Neil A. Hanchard
Published 2019-12-01

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...

by Gerald Mboowa, Savannah Mwesigwa, Eric Katagirya, Gaone Retshabile, Busisiwe C. Mlotshwa, Lesedi Williams, Adeodata Kekitiinwa, David Kateete, Eddie Wampande, Misaki Wayengera, Betty Nsangi Kintu, Grace P. Kisitu, Samuel Kyobe, Chester W. Brown, Neil A. Hanchard, Graeme Mardon, Moses Joloba, Gabriel Anabwani, Ed Pettitt, Masego Tsimako-Johnstone, Ishmael Kasvosve, Koketso Maplanka, Sununguko W. Mpoloka, Makhosazana Hlatshwayo, Mogomotsi Matshaba
Published 2018-06-01

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...

by Gerald Mboowa, Savannah Mwesigwa, Eric Katagirya, Gaone Retshabile, Busisiwe C. Mlotshwa, Lesedi Williams, Adeodata Kekitiinwa, David Kateete, Eddie Wampande, Misaki Wayengera, Betty Nsangi Kintu, Grace P. Kisitu, Samuel Kyobe, Chester W. Brown, Neil A. Hanchard, Graeme Mardon, Moses Joloba, Gabriel Anabwani, Ed Pettitt, Masego Tsimako-Johnstone, Ishmael Kasvosve, Koketso Maplanka, Sununguko W. Mpoloka, Makhosazana Hlatshwayo, Mogomotsi Matshaba
Published 2018-04-01

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

by Claudia M. B. Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J. Turner, Rupa S. Kanchi, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Baylor-Hopkins Center for Mendelian Genomics, Pawel Stankiewicz, John W. Belmont, Chad A. Shaw, Sau Wai Cheung, Neil A. Hanchard, V. Reid Sutton, Patricia I. Bader, James R. Lupski
Published 2019-04-01

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

by Alexander H. Li, Neil A. Hanchard, Dieter Furthner, Susan Fernbach, Mahshid Azamian, Annarita Nicosia, Jill Rosenfeld, Donna Muzny, Lisa C. A. D’Alessandro, Shaine Morris, Shalini Jhangiani, Dhaval R. Parekh, Wayne J. Franklin, Mark Lewin, Jeffrey A. Towbin, Daniel J. Penny, Charles D. Fraser, James F. Martin, Christine Eng, James R. Lupski, Richard A. Gibbs, Eric Boerwinkle, John W. Belmont
Published 2017-10-01

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

by Laure Asselin, José Rivera Alvarez, Solveig Heide, Camille S. Bonnet, Peggy Tilly, Hélène Vitet, Chantal Weber, Carlos A. Bacino, Kristin Baranaño, Anna Chassevent, Amy Dameron, Laurence Faivre, Neil A. Hanchard, Sonal Mahida, Kirsty McWalter, Cyril Mignot, Caroline Nava, Agnès Rastetter, Haley Streff, Christel Thauvin-Robinet, Marjan M. Weiss, Gladys Zapata, Petra J. G. Zwijnenburg, Frédéric Saudou, Christel Depienne, Christelle Golzio, Delphine Héron, Juliette D. Godin
Published 2020-05-01

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

by Savannah Mwesigwa, Lesedi Williams, Gaone Retshabile, Eric Katagirya, Gerald Mboowa, Busisiwe Mlotshwa, Samuel Kyobe, David P. Kateete, Eddie Mujjwiga Wampande, Misaki Wayengera, Sununguko Wata Mpoloka, Angella N. Mirembe, Ishmael Kasvosve, Koketso Morapedi, Grace P. Kisitu, Adeodata R. Kekitiinwa, Gabriel Anabwani, Moses L. Joloba, Enock Matovu, Julius Mulindwa, Harry Noyes, Gerrit Botha, Collaborative African Genomics Network (CAfGEN), TrypanoGEN Research Group, Chester W. Brown, Graeme Mardon, Mogomotsi Matshaba, Neil A. Hanchard
Published 2021-03-01

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

by Samuel Kyobe, Savannah Mwesigwa, Savannah Mwesigwa, Grace P. Kisitu, John Farirai, Eric Katagirya, Angella N. Mirembe, Lesego Ketumile, Misaki Wayengera, Fred Ashaba Katabazi, Edgar Kigozi, Edward M. Wampande, Gaone Retshabile, Busisiwe C. Mlotshwa, Lesedi Williams, Koketso Morapedi, Ishmael Kasvosve, Jacqueline Kyosiimire-Lugemwa, Betty Nsangi, Masego Tsimako-Johnstone, Chester W. Brown, Moses Joloba, Gabriel Anabwani, Lukhele Bhekumusa, Sununguko W. Mpoloka, Graeme Mardon, Graeme Mardon, Mogomotsi Matshaba, Mogomotsi Matshaba, Adeodata Kekitiinwa, Adeodata Kekitiinwa, Neil A. Hanchard
Published 2021-08-01