Ghent University Academic Bibliography

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

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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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Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome

Viviana Cordeddu, Erica L. Macke, Francesca Clementina Radio, Stefania Lo Cicero, Francesca Pantaleoni, Massimo Tatti, Emanuele Bellacchio, Andrea Ciolfi, Emanuele Agolini, Alessandro Bruselles, et al.

(2020) CLINICAL GENETICS. 98(2). p.172-178
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Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

Kate Wolfe, Andrew McQuillin, Viola Alesi, Elise Boudry Labis, Peter Cutajar, Bruno Dallapiccola, Maria Lisa Dentici, Anne Dieux-Coeslier, Benedicte Duban-Bedu, Tina Duelund Hjortshøj, et al.

(2018) AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. 177(4). p.397-405
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FOXP1-related intellectual disability syndrome : a recognisable entity

Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A Rouleau, Fadi F Hamdan, Jacques L Michaud, Jenny Morton, Jessica Radley, et al.

(2017) JOURNAL OF MEDICAL GENETICS. 54(9). p.613-623
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- Conference Paper
- C3
FOXP1-related intellectual disability syndrome: a recognizable entity

Ilse Meerschaut, Justine Pètre, Nicole Revencu, Damien Lederer, Milen Vilenov, Thomy de Ravel, Djalila Mekahli, Keith Vaux, Jonathan Sebat, Fadi Hamdan, et al.

(2016) Belgian Society of Human Genetics (BeSHG) and the Nederlandse Vereniging voor Humane Genetica (NVHG), 1st Joint meeting, Abstract book.
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- Conference Paper
- C3
FOXP1-related intellectual disability syndrome: a recognizable entity

Ilse Meerschaut, Justine Pètre, Nicole Revencu, Damien Lederer, Milen Vilenov, Thomy de Ravel, Djalila Mekahli, Keith Vaux, Jonathan Sebat, Fadi Hamdan, et al.

(2016) BELGIAN JOURNAL OF PAEDIATRICS. 18(1). p.99-99
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Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes

Shannon Marchegiani, Taylor Davis, Federico Tessadori, Gijs van Haaften, Francesco Brancati, Alexander Hoischen, Haigen Huang, Elise Valkanas, Barbara Pusey, Denny Schanze, et al.

(2015) AMERICAN JOURNAL OF HUMAN GENETICS. 97(1). p.99-110
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Novel TMEM67 mutations and genotype-phenotype correlates in Meckelin-related ciliopathies

Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, Celine Gomes, Gian Luigi Ardissino, Enrico Bertini, et al.

(2010) HUMAN MUTATION. 31(5). p.E1319-E1331
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Expanding CEP290 mutational spectrum in ciliopathies

Lorena Travaglini, Francesco Brancati, Tania Attie-Bitach, Sophie Audollent, Enrico Bertini, Josseline Kaplan, Isabelle Perrault, Miriam Iannicelli, Brunella Mancuso, Luciana Rigoli, et al.

(2009) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 149A(10). p.2173-2180

Academic Bibliography

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

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

FOXP1-related intellectual disability syndrome : a recognisable entity

FOXP1-related intellectual disability syndrome: a recognizable entity

FOXP1-related intellectual disability syndrome: a recognizable entity

Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes

Novel TMEM67 mutations and genotype-phenotype correlates in Meckelin-related ciliopathies

Expanding CEP290 mutational spectrum in ciliopathies

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