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All papers authored by Julia Baptista

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2023 Saleh Shekari

ORCID

, Stasa Stankovic

ORCID

, Eugene J. Gardner

ORCID

, Gareth Hawkes

ORCID

, Katherine A. Kentistou

ORCID

, Robin N. Beaumont

ORCID

, Alexander Mörseburg, Andrew R. Wood

ORCID

, Julia K. Prague, Gita D. Mishra, Felix R. Day

ORCID

, Julia Baptista

ORCID

, Caroline F. Wright

ORCID

, Michael N. Weedon, Eva R. Hoffmann

ORCID

and 4 other authors

Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency

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2022 Agata Oliwa, Shuko Joseph, Eoghan Millar, Iain Horrocks, Dawn Penman, Julia Baptista

ORCID

, Thomas Cullup, Panayiotis Constantinou, Anne-Marie Heuchan, Ruth Hamilton, Cheryl Longman

Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype

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Gabriela Jones

ORCID

, Katie Johnson, Jacqueline Eason, Mark Hamilton, Deborah Osio, Farah Kanani, Julia Baptista

ORCID

, Mohnish Suri

Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome

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Julia Baptista

ORCID

Comment on: Disease gene identification strategies for exome sequencing by Gilissen et al. 2012

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Athina Ververi, Sara Zagaglia, Lara Menzies, Julia Baptista

ORCID

, Richard Caswell, Stephanie Baulac, Sian Ellard, Sally Lynch, Thomas S. Jacques, Maninder Singh Chawla, Martin Heier, Mari Ann Kulseth, Inger-Lise Mero, Anne Katrine Våtevik, Ichraf Kraoua and 25 other authors

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria

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Helen McDermott, Charlotte Sherlaw-Sturrock

ORCID

, Julia Baptista

ORCID

, Lorraine Hartles-Spencer, Swati Naik

Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluation

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Rauan Kaiyrzhanov

ORCID

, Sami E. M. Mohammed, Reza Maroofian, Ralf A. Husain, Alessia Catania, Alessandra Torraco, Ahmad Alahmad, Marina Dutra-Clarke, Sabine Grønborg, Annapurna Sudarsanam, Julie Vogt, Filippo Arrigoni, Julia Baptista

ORCID

, Shahzad Haider, René G. Feichtinger and 39 other authors

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

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Kelsey A. Nolden

ORCID

, John M. Egner, Jack J. Collier, Oliver M. Russell, Charlotte L. Alston, Megan C. Harwig, Michael E. Widlansky, Souphatta Sasorith

ORCID

, Inês A. Barbosa

ORCID

, Andrew Gl Douglas

ORCID

, Julia Baptista

ORCID

, Mark Walker, Deirdre E. Donnelly, Andrew A. Morris

ORCID

, Hui Jeen Tan and 9 other authors

NovelDNM1Lvariants impair mitochondrial dynamics through divergent mechanisms

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Samir Bouasker, Nisha Patel, Rebecca Greenlees, Diana Wellesley, Lucas Fares Taie, Naif A. Almontashiri, Julia Baptista

ORCID

, Malak Ali Alghamdi, Sarah Boissel, Jelena Martinovic, Ivan Prokudin, Samantha Holden, Hardeep-Singh Mudhar, Lisa G. Riley, Christina Nassif and 13 other authors

Bi-allelic variants inWNT7Bdisrupt the development of multiple organs in humans

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Charlotte Sherlaw-Sturrock

ORCID

, Thomas Austin, Julia Baptista

ORCID

, Kimberly Gilmour, Swati Naik

Dysmorphism and immunodeficiency - One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2

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Julia Baptista

ORCID

Erratum to Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin

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Rémi Duclaux-Loras, Corinne Lebreton, Jérémy Berthelet, Fabienne Charbit-Henrion

ORCID

, Ophelie Nicolle, Céline Revenu de Courtils, Stephanie Waich, Taras Valovka

ORCID

, Anis Khiat, Marion Rabant

ORCID

, Caroline Racine, Ida Chiara Guerrera

ORCID

, Júlia Baptista

ORCID

, Maxime M. Mahe

ORCID

, Michael W. Hess and 22 other authors

UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking

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Marion Coolen, Nami Altin, Karthyayani Rajamani, Eva Pereira, Karine Siquier-Pernet, Emilia Puig Lombardi, Nadjeda Moreno, Giulia Barcia, Marianne Yvert, Annie Laquerrière, Aurore Pouliet, Patrick Nitschké, Nathalie Boddaert, Antonio Rausell, Féréchté Razavi and 12 other authors

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation

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Martin Broly, Bogdan V. Polevoda, Kamel M. Awayda, Ning Tong, Jenna Lentini, Thomas Besnard, Wallid Deb, Declan O’Rourke, Julia Baptista

ORCID

, Sian Ellard, Mohammed Almannai, Mais Hashem, Ferdous Abdulwahab, Hanan Shamseldin, Saeed Al-Tala and 22 other authors

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

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Kayla Treat, Sharayu Jangam, Shinya Yamamoto, Kerry White, Oguz Kanca, Celanie Christensen, Sally Lynch, Julia Baptista

ORCID

, Mandy H.-Y. Tsang, Kristy Jay, Brian H.-Y. Chung, Liz Y.-P. Yuen, Martin M.-C. Chui, Hugo Bellen, Michael Wangler and 2 other authors

eP410: De novo missense variants in DDX39B cause a novel syndrome characterized by neurodevelopmental delay, short stature and congenital hypotonia

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Charlotte Sherlaw-Sturrock, Helen McDermott, Julia Baptista

ORCID

, Lorraine Hartles-Spencer, Swati Naik

eP244: Rapid exome sequencing influences acute and long-term management of critically unwell children and their families

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Helen McDermott, Vidya Garikapati, Júlia Baptista

ORCID

, Harsha Gowda, Swati Naik

X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing

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2021 Charlotte Pickwick, Bert Callewaert, Fleur van Dijk, Juliette Harris, Emma Wakeling, Eleanor Hay, Mildrid Yeo, Anupam Chakrapani, Julia Baptista

ORCID

, Sandra Moore, Michael Yoong, Fiona Chatterjee, Neeti Ghali

Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings

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Marjolein J. A. Weerts

ORCID

, Kristina Lanko, Francisco J. Guzmán-Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona-Londoño, Karla A. Peña-Guerra, Yolande van Bever, Barbara W. van Paassen, Anneke Kievit, Marjon van Slegtenhorst, Nicholas M. Allen, Caroline M. Kehoe, Hannah K. Robinson, Lewis Pang and 84 other authors

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

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Halie J. May, Jaehoon Jeong, Anya Revah-Politi, Julie S. Cohen, Anna Chassevent, Julia Baptista

ORCID

, Evan H. Baugh, Louise Bier, Armand Bottani, Maria resa Te Carminho A. Rodrigues, Charles Conlon, Joel Fluss, Michel Guipponi, Chong Ae Kim, Naomichi Matsumoto and 12 other authors

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

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