Shehla Mohammed (Sahar Mansour)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 14

Top Topics

Intellectual Disability

Gene Expression

Top Venues

Human molecular genetics

Journal of medical genetics

European journal of human genetics : EJHG

Genetics in medicine : official journal of the American College of Medical Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (2024)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (2024)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (2024)
Jiarna Rose Zerella, Claire C Homan, Peer Arts, Xuzhu Lin, Sam John Spinelli, Parvathy Venugopal, Milena Babic, Peter Brautigan, Lynda Truong, Luis Alberto Arriola-Martinez, Sarah Moore, Rachel Hollins, Wendy Parker, Hung Nguyen, Karin S Kassahn, Susan Branford, Simone K Feurstein, Lise Larcher, Flore Sicre de Fontbrune, Serwet Demirdas, Sonja de Munnik, Helene A Poirel, Benedicte Brichard, Shehla Mohammed, Kristiana Gordon, Erg Variants Research Network, Marcin W Wlodarski, Ashwin Lakshman Koppayi, Sara E Dobbins, Pim G N J Mutsaers, Kim E Nichols, Ninad Oak, Desiree DeMille, Rong Mao, Ali Crawford, Julie McCarrier, Donald Basel, Josue Flores-Daboub, Michael W Drazer, Kerry Phillips, Nicola Poplawski, Graeme M Birdsey, Daniela Pirri, Pia Ostergaard, Annet Simons, Lucy A Godley, David Morrall Ross, Devendra K Hiwase, Jean Soulier, Anna L Brown, Catherine L Carmichael, Hamish S Scott, Christopher N Hahn
Germline ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition. Blood (2024)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (2024)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics (2024)
Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J Myers, Yuan Hongjie, Diana Baralle, Tim Vanderhasselt, Katrien Stouffs, Kathelijn Keymolen, Sukhan Kim, James Allen, Gil Shaulsky, Jamel Chelly, Pascale Marcorelle, Jacqueline Aziza, Laurent Villard, Elise Sacaze, Marie C Y de Wit, Martina Wilke, Grazia Maria Simonetta Mancini, Ute Hehr, Derek Lim, Shehla Mohammed, Stephen F Traynelis, Claire Beneteau, Marie Denis-Musquer, Anna C Jansen, Andrew E Fry, Nadia Bahi-Buisson
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B . Journal of medical genetics (2022)
Silvia Martin-Almedina, Kazim Ogmen, Ege Ozkan, Dionysios Grigoriadis, Christina Karapouliou, Noeline Nadarajah, Cathrine Ebbing, Jenny Lord, Rhiannon Mellis, Fanny Kortuem, Mary Beth Dinulos, Cassandra Polun, Sherri Bale, Giles Atton, Alexandra Robinson, Hallvard Reigstad, Gunnar Houge, Axel von der Wense, Wolf-Henning Becker, Steve Jeffery, Peter S Mortimer, Kristiana Gordon, Katherine S Josephs, Sarah Robart, Mark David Kilby, Stephanie Vallee, Jerome L Gorski, Maja Hempel, Siren Berland, Shehla Mohammed, Pia Ostergaard
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes. Genetics in medicine : official journal of the American College of Medical Genetics 23 (7) (2021)
Shehla Mohammed, Katherine S Josephs, Pia Ostergaard, Kristiana Gordon, Malou Van Zanten, Julian Pearce, Steve Jeffery, Vaughan Keeley, Katie Riches, Alexander Kreuter, Ulrike Wieland, René Hägerling, Lakshmi Ratnam, Ege Sackey, Dionysios Grigoriadis, Bernard Ho, Frances Smith, Elisabeth Rauter, Peter Mortimer, Derek Macallan
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts. Journal of medical genetics (2021)
Claire Forde, Emma Burkitt-Wright, Peter D Turnpenny, Eric Haan, John Ealing, Shehla Mohammed, Muriel Holder, Nayana Lahiri, Abhijit Dixit, Annie Procter, Laurence Pacot, Dominique Vidaud, Yline Capri, Marion Gerard, Hélène Dollfus, Elise Schaefer, Chloé Quelin, Sabine Sigaudy, Tiffany Busa, Gabriella Vera, Lena Damaj, Ludwine Messiaen, David A Stevenson, Peter Davies, Sheila Palmer-Smith, Alison Callaway, Pierre Wolkenstein, Eric Pasmant, Meena Upadhyaya
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study. European journal of human genetics : EJHG 30 (3) (2021)
Maha Helal, Shehla Mohammed, Rana Khaled, Lamia Bassam
The role of automated breast ultrasound in the assessment of the local extent of breast cancer. The breast journal 27 (2) (2020)
Kristiana Gordon, Ruth Varney, Vaughan Keeley, Katie Riches, Steve Jeffery, Malou Van Zanten, Peter Mortimer, Pia Ostergaard, Shehla Mohammed
Update and audit of the St George's classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis. Journal of medical genetics 57 (10) (2020)
Aurélien Trimouille, Nada Houcinat, Marie-Laure Vuillaume, Patricia Fergelot, Cécile Boucher, Jérôme Toutain, Cédric Le Caignec, Marie Vincent, Mathilde Nizon, Joris Andrieux, Clemence Vanlerberghe, Bruno Delobel, Bénédicte Duban, Shehla Mohammed, Emma Baple, Colina McKeown, Gemma Poke, Kate Robertshaw, Eve Fifield, Antonella Fabretto, Vanna Pecile, Paolo Gasparini, Marco Carrozzi, Didier Lacombe, Benoit Arveiler, Caroline Rooryck, Sebastien Moutton
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. European journal of human genetics : EJHG 26 (1) (2017)
Hemant Bengani, Mark Handley, Mohsan Alvi, Christoffer Nellåker, Melissa Lees, Sally Ann Lynch, Wayne Lam, Madeleine Fannemel, Ann Nordgren, Ann Nordgren, M Kvarnung, Sarju Mehta, Sarju G Mehta, Margo Whiteford, Fiona Stewart, Fiona Connell, Jill Clayton-Smith, Sahar Mansour, Shehla Mohammed, Alan Fryer, Jenny Morton, null null, Detelina Grozeva, Tara Asam, David Moore, Alejandro Sifrim, Alejandro Sifrim, Matthew E Hurles, Helen V Firth, F Lucy Raymond, F Lucy Raymond, Christoffer Nellåker, null Ddd Study, David R FitzPatrick
Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Genetics in medicine : official journal of the American College of Medical Genetics 19 (8) (2017)