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Papers共 157 篇Author StatisticsCo-AuthorSimilar Experts

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ClinGen Recuration of Hearing Loss-Associated Genes Demonstrates Significant Changes in Gene-Disease Validity over Time
Kezang C Tshering,Marina T DiStefano,Andrea M Oza,Pamela Ajuyah, Ryan Webb, Enyonam Edoh, Ellie Broeren, Julie Ratliff, Vanessa Gitau, Kelley Paris, Amal Aburyyan, John Alexander,Victoria Albano, Donglin Bai, Kevin T A Booth,Paula I Buonfiglio,Cherine Charfeddine,Viviana Dalamón,Ignacio Del Castillo,Miguel Angel Moreno-Pelayo,Hatice Duzkale, Ben Dorshorst,Rabia Faridi,Margaret Kenna,Morag A Lewis,Minjie Luo, Yu Lu,Rahma Mkaouar,Tatsuo Matsunaga,Kiyomitsu Nara,Arti Pandya,Shelby Redfield,Isabelle Roux,Lisa A Schimmenti,Isabelle Schrauwen,Sherin Shaaban,Jun Shen,Barbara Vona,Richard J Smith,Heidi L Rehm,Hela Azaiez,Ahmad N Abou Tayoun,Sami S Amr, ClinGen Hearing Loss Clinical Domain Working Group
Genetics in medicine official journal of the American College of Medical Geneticsno. 5 (2025): 101392-101392
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The Diverse Genetic Landscape of Hearing Impairment in South African Families
Thashi Bharadwaj, Anushree Acharya, Noluthando Rearabetswe Manyisa, Elvis Twumasi Aboagye, Ramses Peigou Wonkam, Lettilia Xhakaza, Kalinka Popel,Carmen de Kock,Isabelle Schrauwen,Ambroise Wonkam, Suzanne M Leal
Clinical genetics (2025)
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Exome Sequencing Revealed a Novel Homozygous Variant in TRMT61 A in a Multiplex Family with Atypical Cornelia De Lange Syndrome from Rwanda
Esther Uwibambe,Abdoulaye Yalcouyé, Elvis Twumasi Aboagye, Lettilia Xhakaza, Kalinka Popel, Norbert Dukuze, Thashi Bharadwaj,Carmen de Kock,Isabelle Schrauwen, Suzanne M. Leal,Leon Mutesa,Ambroise Wonkam
BMC Medical Genomicsno. 1 (2025): 1-9
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Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss
Elvis Twumasi Aboagye,Samuel Mawuli Adadey, Leonardo Alves de Souza Rios, Kevin K Esoh,Edmond Wonkam-Tingang, Lettilia Xhakaza,Carmen De Kock,Isabelle Schrauwen,Lucas Amenga-Etego, Dirk Lang,Gordon A Awandare, Suzanne M Leal,Shaheen Mowla,Ambroise Wonkam
International journal of molecular sciencesno. 7 (2025)
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P254: Genetics of Perrault Syndrome in a Family with Ten Affected Individuals
Rabia Faridi, Thomas Smith, Leigh M. Demain, Yasuko Ishibashi,Sayaka Inagaki,Huw Thomas, Alessandro Rea, Arshia Maqbool,Isabelle Schrauwen,Khurram Liaqat,Zubair Ahmed, Sondhya Ghedia,Andrew Green,Ruth Sheffer, Hagar Mor-Shaked,Mathilda Wilding, Robin Hay,Saima Riazuddin, Langping He, Glenda Beaman, Wasim Ahmed,Suzanne Leal,Robert Taylor, Raymond O’Keefe,Robert Morell,Alejandro Schaffer,William Newman, Inna Belyantseva,Sheikh Riazuddin, Thomas Friedman
Genetics in Medicine Open (2025): 102219
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Author Statistics

#Papers: 157

#Citation: 2803

H-Index: 29

G-Index: 46

Sociability: 7

Diversity: 3

Activity: 31

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