Ghent University Academic Bibliography

Your filters: cql: author="Banka, Siddharth" or (type any "bookEditor issueEditor" and editor="Banka, Siddharth")

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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Sarah E. Sheppard, Laura Bryant, Rochelle N. Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J. Watson, Victor Faundes, Yannis Duffourd, et al.

(2023) SCIENCE ADVANCES. 9(10).
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al.

(2023) HUMAN GENOMICS. 17(1).
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, et al.

(2023) GENETICS IN MEDICINE. 25(4).
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ACTB loss-of-function mutations result in a pleiotropic developmental disorder

Sara Cuvertino, Helen M Stuart, Kate E Chandler, Neil A Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev Bhaskar, Bert Callewaert (UGent) , Jill Clayton-Smith, Cristina Hernando Davalillo, et al.

(2017) AMERICAN JOURNAL OF HUMAN GENETICS. 101(6). p.1021-1033
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A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect

Meriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, Ann Wheeler, Anne Seawright, Elfride De Baere (UGent) , Hannah Verdin (UGent) , L Therese Bergendahl, Alan Quigley, Joe Rainger, et al.

(2016) AMERICAN JOURNAL OF HUMAN GENETICS. 98(5). p.981-992

Academic Bibliography

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

ACTB loss-of-function mutations result in a pleiotropic developmental disorder

A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect

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