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dr. G.W. (Gijs) van Haaften

dr. G.W. (Gijs) van Haaften

Associate Professor

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Research Output (102)

Identification of candidate genes for developmental colour agnosia in a single unique family

Nijboer Tanja C W, Hessel Ellen V S, van Haaften Gijs W, van Zandvoort Martine J, van der Spek Peter J, Troelstra Christine, de Kovel Carolien G F, Koeleman Bobby P C, van der Zwaag Bert, Brilstra Eva H, Burbach J Peter H Sep 2023, In: PLoS ONE. 18 17 p.

Macrocephaly and developmental delay caused by missense variants in RAB5C

Koop Klaas, Yuan Weimin, Tessadori Federico, Rodriguez-Polanco Wilmer R, Grubbs Jeremy, Zhang Bo, Osmond Matt, Graham Gail, Sawyer Sarah, Conboy Erin, Vetrini Francesco, Treat Kayla, Płoski Rafal, Pienkowski Victor Murcia, Kłosowska Anna, Fieg Elizabeth, Krier Joel, Mallebranche Coralie, Alban Ziegler, Aldinger Kimberly A, Ritter Deborah, Macnamara Ellen, Sullivan Bonnie, Herriges John, Alaimo Joseph T, Helbig Catherine, Ellis Colin A, Eyk Clare, Gecz Jozef, Farrugia Daniel, Osei-Owusu Ikeoluwa, Adès Lesley, Boogaard Marie-Jose, Fuchs Sabine, Bakker Jeroen, Duran Karen, Dawson Zachary D, Lindsey Anika, Huang Huiyan, Baldridge Dustin, Silverman Gary A, Grant Barth D, Raizen David, Network Undiagnosed Diseases, Haaften Gijs, Pak Stephen C, Rehmann Holger, Schedl Tim, van Hasselt Peter 8 Aug 2023, In: Human molecular genetics. 32 , p. 3063-3077 15 p.

WEE1 inhibitor adavosertib in combination with carboplatin in advanced TP53 mutated ovarian cancer:A biomarker-enriched phase II study

Embaby Alaa, Kutzera Joachim, Geenen Jill J, Pluim Dick, Hofland Ingrid, Sanders Joyce, Lopez-Yurda Marta, Beijnen Jos H, Huitema Alwin D R, Witteveen Petronella O, Steeghs Neeltje, van Haaften Gijs, van Vugt Marcel A T M, de Ridder Jeroen, Opdam Frans L 24 May 2023, In: Gynecologic Oncology. 174 , p. 239-246 8 p.

Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

Muffels Irena J.J., Schene Imre F., Rehmann Holger, Massink Maarten P.G., van der Wal Maria M., Bauder Corinna, Labeur Martha, Armando Natalia G., Lequin Maarten H., Houben Michiel L., Giltay Jaques C., Haitjema Saskia, Huisman Albert, Vansenne Fleur, Bluvstein Judith, Pappas John, Shailee Lala V., Zarate Yuri A., Mokry Michal, van Haaften Gijs W., Nieuwenhuis Edward E.S., Refojo Damian, van Wijk Femke, Fuchs Sabine A., van Hasselt Peter M. 5 Jan 2023, In: American Journal of Human Genetics. 110 , p. 146-160 15 p.

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

Claus Laura R, Chen Chuan, Stallworth Jennifer, Turner Joshua L, Slaats Gisela, Hawks Alexandra L, Mabillard Holly, Senum Sarah R, Srikanth Sujata, Flanagan-Steet Heather, Louie Raymond J, Silver Josh, Lerner-Ellis Jordan, Morel Chantal, Mighton Chloe, Sleutels Frank, van Slegtenhorst Marjon, van Ham Tjakko, Brooks Alice S, Dorresteijn Eiske M, Barakat Tahsin Stefan, Dahan Karin, Demoulin Nathalie, Goffin Eric Jean, Olinger Eric, Larsen Martin, Hertz Jens Michael, Lilien Marc R, Obeidová Lena, Seeman Tomas, Stone Hillarey K, Kerecuk Larissa, Gurgu Mihai, Yousef Yengej Fjodor A, Ammerlaan Carola Me, Rookmaaker Maarten B, Hanna Christian, Rogers R Curtis, Duran Karen, Peters Edith, Sayer John A, van Haaften Gijs, Harris Peter C, Ling Kun, Mason Jennifer M, van Eerde Albertien M, Steet Richard, 2023, In: Kidney International. 104 , p. 995-1007 13 p.

Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10

Créton Marijn, Wagener Frank, Massink Maarten, Fennis Willem, Bloemen Marjon, Schols Jan, Aarts Miranda, van der Molen Aebele Mink, van Haaften Gijs, van den Boogaard Marie José 2023, In: American Journal of Medical Genetics, Part A. 191 , p. 1083-1088 6 p.

Recurrent respiratory syncytial virus infection in a CD14 deficient patient

Besteman Sjanna B, Phung Emily, Raeven Henriette H M, Amatngalim Gimano D, Rumpret Matevž, Crabtree Juliet, Schepp Rutger M, Rodenburg Lisa W, Siemonsma Susanna G, Verleur Nile, van Slooten Rianne, Duran Karen, van Haaften Gijs, Beekman Jeffrey M, Chang Lauren A, Meyaard Linde, van der Bruggen Tjomme, Berbers Guy A M, Derksen Nicole, Nierkens Stefan, Morabito Kaitlyn M, Ruckwardt Tracy J, Kurt-Jones Evelyn A, Golenbock Douglas, Graham Barney S, Bont Louis J 16 Apr 2022, In: The Journal of infectious diseases. 226 , p. 258-269 12 p.

Biallelic TMEM72 variants in patients with nephronophthisis-like phenotype

Snoek Rozemarijn, Claus Laura R., Peters Edith D. J., Savelberg Sanne M. C., Duran Karen, van der Veen Suzanne W., Brummelhuis Walter J., Rookmaaker Maarten, van der Zwaag Bert, Nguyen Tri Q., Broekhuizen Roel, Mesnard Laurent, Karras Alexandre, Sadeghi-Alavijeh Omid, Gale Daniel P., Elferink Martin, Oud Machteld M., Faber Siebren, Roepman Ronald, Hildebrandt Friedhelm, Klambt Verena, Knoers Nine V. A. M., Tessadori Federico, van Haaften Gijs W., van Eerde Albertien M. Apr 2022, In: European Journal of Human Genetics. 30 , p. 78-78

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

Tessadori Federico, Duran Karen, Knapp Karen, Fellner Matthias, Smithson Sarah, Beleza Meireles Ana, Elting Mariet W, Waisfisz Quinten, O'Donnell-Luria Anne, Nowak Catherine, Douglas Jessica, Ronan Anne, Brunet Theresa, Kotzaeridou Urania, Svihovec Shayna, Saenz Margarita S, Thiffault Isabelle, Del Viso Florencia, Devine Patrick, Rego Shannon, Tenney Jessica, van Haeringen Arie, Ruivenkamp Claudia A L, Koene Saskia, Robertson Stephen P, Deshpande Charulata, Pfundt Rolph, Verbeek Nienke, van de Kamp Jiddeke M, Weiss Janneke M M, Ruiz Anna, Gabau Elisabeth, Banne Ehud, Pepler Alexander, Bottani Armand, Laurent Sacha, Guipponi Michel, Bijlsma Emilia, Bruel Ange-Line, Sorlin Arthur, Willis Mary, Powis Zoe, Smol Thomas, Vincent-Delorme Catherine, Baralle Diana, Colin Estelle, Revencu Nicole, Calpena Eduardo, Bakkers Jeroen, van Haaften Gijs, 17 Feb 2022, In: American Journal of Human Genetics. 109 , p. 750-758 9 p.

Lymphedema as first clinical presentation of Cantu Syndrome:reversed phenotyping after identification of gain-of-function variant in ABCC9

Gao Jian, McClenaghan Conor, Christiaans Imke, Alders Marielle, van Duinen Kirsten, van Haelst Mieke M., van Haaften Gijs, Nichols Colin G. 2022, In: European Journal of Human Genetics. 31 , p. 188-194 7 p.

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