Genome-wide linkage and association of novel genes and pathways with type 2 diabetes in Italian families by Mutaz Amin, Claudia Gragnoli

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The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndrome by Mutaz Amin, Claudia Gragnoli

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Linkage and association of variants in the dopamine receptor 2 gene (DRD2) with polycystic ovary syndrome by Mutaz Amin, Nicholas Horst, Claudia Gragnoli

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Novel corticotropin-releasing hormone receptor genes (CRHR1 and CRHR2) linkage to and association with polycystic ovary syndrome by Mutaz Amin, Nicholas Horst, Rongling Wu, Claudia Gragnoli

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The prolactin receptor (PRLR) gene is linked to and associated with the comorbidity of depression and type 2 diabetes in Italian families by Mutaz Amin, Rongling Wu, Teodor T. Postolache, Claudia Gragnoli

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Novel linkage and association of the mineralocorticoid receptor gene (NR3C2) with familial type 2 diabetes and depression and their comorbidity by Mutaz Amin, Shumail Syed, Rongling Wu, Teodor T. Postolache, Claudia Gragnoli

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Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data by Mahmoud Koko, Mohammed O. E. Abdallah, Mutaz Amin, Muntaser Ibrahim

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P713: Estimating the prevalence of de novo monogenic disorders from gnomAD database by Mutaz Amin, Samantha Baxter, Kaitlin Samocha, Anne O'Donnell-Luria

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The role of melatonin receptor 1B gene (MTNR1B) in the susceptibility to depression and type 2 diabetes comorbidity by Mutaz Amin, Benjamin Rafla, Rongling Wu, Teodor T. Postolache, Claudia Gragnoli

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Molecular Evidence of High Proportion of Plasmodium vivax Malaria Infection in White Nile Area in Sudan by Makarim M. Adam Suliman, Bushra M. Hamad, Musab M. Ali Albasheer, Maytha Elhadi, Mutaz Amin Mustafa, Maha Elobied, Muzamil Mahdi Abdel Hamid

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P138: Evaluating the impact of gnomAD v4 on genetic prevalence estimates* by Samantha Baxter, Moriel Singer-Berk, Kathryn Russell, Mutaz Amin, Carmen Glaze, Riley Grant, Josephine Lee, Nick Watts, Michael Wilson, Heidi Rehm, Anne O'Donnell-Luria

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Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan by Mutaz Amin, Mutaz Amin, Cedric Vignal, Ahlam A. A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Rayan Abubaker, Rayan Abubaker, Yousuf Bakhit, Yousuf Bakhit, Arwa Babai, Eman Elbadi, Esraa Eltaraifee, Doua Mustafa, Ashraf Yahia, Melka Osman, Mahmoud Koko, Mohamed Mustafa, Mohamed Alsiddig, Sahwah Haroun, Azza Elshafea, Severine Drunat, Severine Drunat, Liena E. O. Elsayed, Ammar E. Ahmed, Odile Boespflug-Tanguy, Odile Boespflug-Tanguy, Imen Dorboz, Imen Dorboz

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Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report by Ashraf Yahia, Liena Elsayed, Arwa Babai, Mustafa A. Salih, Sarah Misbah El-Sadig, Mutaz Amin, Mahmoud Koko, Rayan Abubakr, Razaz Idris, Shaimaa Omer M.A. Taha, Salah A. Elmalik, Alexis Brice, Ammar Eltahir Ahmed, Giovanni Stevanin

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Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family by Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Rayan A. Siddig, Mutaz Amin, Mahmoud Koko, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Ammar E. Ahmed, Giovanni Stevanin

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A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability by Mutaz Amin, Cedric Vignal, Esraa Eltaraifee, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Arwa Babai, Iman Elbadi, Doua Mustafa, Rayan Abubaker, Mohamed Mustafa, Severine Drunat, Liena E. O. Elsayed, Ammar E. Ahmed, Odile Boespflug-Tanguy, Imen Dorboz

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P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions by Marina DiStefano, Joanna Amberger, Christina Austin-Tse, Marie Balzotti, Mutaz Amin, Jonathan Berg, Carol Bocchini, Elspeth Bruford, Fowzan Alkuraya, Alison Coffey, Heather Collins, Fiona Cunningham, Helen Firth, David Fitzpatrick, Yaron Einhorn, Jennifer Goldstein, Ada Hamosh, Sarah Leigh, Ivone Leong, Christa Martin, Ellen McDonagh, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, Jackie Tahiliani, James Ware, Eleanor Williams, Caroline Wright, Michael Yates, Phillip Weller, Heidi Rehm

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P575: The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease* by Christina Austin-Tse, Stephanie DiTroia, Melanie O'Leary, Grace VanNoy, Brian Mangilog, Gulalai Shah, Eva Martinez, Jillian Serrano, Lynn Pais, Emily O'Heir, Ikeoluwa Osei-Owusu, Gabrielle Lemire, Vijay Ganesh, Sarah Stenton, Mutaz Amin, Kayla Socarras, Mugdha Singh, Stacey Hall, Katie Larsson, Moriel Singer-Berk, Daniel Marten, Michael Wilson, Hana Snow, Benjamin Blankenmeister, Jialan Ma, Ben Weisburd, Alba Sanchis-Juan, Harrison Brand, Emily Groopman, Alysia Lovgren, Clara Williamson, Marissa Hollyer, Eleina England, Eleanor Seaby, Katherine Chao, Julia Goodrich, Samantha Baxter, Daniel MacArthur, Michael Talkowski, Monica Wojcik, Anne O'Donnell-Luria, Heidi Rehm

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