Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J. M.; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W.; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; Calkoen, Rixje van Beeck; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W. E.; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M.; Bijlsma, Emilia K.; Hakonen, Anna H.; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L.; Welling, Lindsey; Plomp, Astrid S.; Vanhoutte, Els K.; Kalsner, Louisa; Hol, Janna A.; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, Andre; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Ozcan, Kubra; Miot, Stephanie; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L.; Muir, Alison M.; Sadikovic, Bekim; Brunner, Han G.; Vissers, Lisenka E. L. M.; Shinkai, Yoichi; Kleefstra, Tjitske

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-04-019

OAAI

van der Made, Caspar I.; Kersten, Simone; Chorin, Odelia; Engelhardt, Karin R.; Ramakrishnan, Gayatri; Griffin, Helen; van der Loeff, Ina Schim; Venselaar, Hanka; Rothschild, Annick Raas; Segev, Meirav; Schuurs-Hoeijmakers, Janneke H. M.; Mantere, Tuomo; Essers, Rick; Esteki, Masoud Zamani; Avital, Amir L.; Loo, Peh Sun; Simons, Annet; Pfundt, Rolph; Warris, Adilia; Seyger, Marieke M.; van de Veerdonk, Frank L.; Netea, Mihai G.; Slatter, Mary A.; Flood, Terry; Gennery, Andrew R.; Simon, Amos J.; Lev, Atar; Frizinsky, Shirley; Barel, Ortal; van der Burg, Mirjam; Somech, Raz; Hambleton, Sophie; Henriet, Stefanie S. V.; Hoischen, Alexander

A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa

MOLECULAR THERAPY-NUCLEIC ACIDS

IF0

2023-06-013

OAAI

An Overview of the Putative Structural and Functional Properties of the GHBh1 Receptor through a Bioinformatics Approach

LIFE-BASEL

IF3.4

2023-03-310

OAAI

De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-01-014

OAAI

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2023-01-017

OAAI

Blok, Lot Snijders; Verseput, Jolijn; Rots, Dmitrijs; Venselaar, Hanka; Innes, A. Micheil; Stumpel, Connie; Ounap, Katrin; Reinson, Karit; Seaby, Eleanor G.; McKee, Shane; Burton, Barbara; Kim, Katherine; van Hagen, Johanna M.; Waisfisz, Quinten; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Li, Dong; Zackai, Elaine H.; Sheppard, Sarah E.; Keena, Beth; Hakonarson, Hakon; Roos, Andreas; Kohlschmidt, Nicolai; Cereda, Anna; Iascone, Maria; Rebessi, Erika; Kernohan, Kristin D.; Campeau, Philippe M.; Millan, Francisca; Taylor, Jesse A.; Lochmuller, Hanns; Higgs, Martin R.; Goula, Amalia; Bernhard, Birgitta; Velasco, Danita J.; Schmanski, Andrew A.; Stark, Zornitza; Gallacher, Lyndon; Pais, Lynn; Marcogliese, Paul C.; Yamamoto, Shinya; Raun, Nicholas; Jakub, Taryn E.; Kramer, Jamie M.; den Hoed, Joery; Fisher, Simon E.; Brunner, Han G.; Kleefstra, Tjitske

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

GENETICS IN MEDICINE

IF6.2

2022-06-0114

van der Spek, Jet; den Hoed, Joery; Blok, Lot Snijders; Dingemans, Alexander J. M.; Schijven, Dick; Nellaker, Christoffer; Venselaar, Hanka; Astuti, Galuh D. N.; Barakat, Tahsin Stefan; Bebin, E. Martina; Beck-Wodl, Stefanie; Beunders, Gea; Brown, Natasha J.; Brunet, Theresa; Brunner, Han G.; Campeau, Philippe M.; Cuturilo, Goran; Gilissen, Christian; Haack, Tobias B.; Huning, Irina; Husain, Ralf A.; Kamien, Benjamin; Lim, Sze Chern; Lovrecic, Luca; Magg, Janine; Maver, Ales; Miranda, Valancy; Monteil, Danielle C.; Ockeloen, Charlotte W.; Pais, Lynn S.; Plaiasu, Vasilica; Raiti, Laura; Richmond, Christopher; Riess, Angelika; Schwaibold, Eva M. C.; Simon, Marleen E. H.; Spranger, Stephanie; Tan, Tiong Yang; Thompson, Michelle L.; de Vries, Bert B. A.; Wilkins, Ella J.; Willemsen, Marjolein H.; Francks, Clyde; Vissers, Lisenka E. L. M.; Fisher, Simon E.; Kleefstra, Tjitske

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene

JOURNAL OF MEDICAL GENETICS

IF3.7

2021-12-246

OAAI

Bertoli-Avella, Aida; Hotakainen, Ronja; Al Shehhi, Maryam; Urzi, Alice; Pareira, Catarina; Marais, Anett; Al Shidhani, Khoula; Aloraimi, Sumaya; Morales-Torres, Galina; Fisher, Steffen; Demuth, Laura; Selim, Laila Abdel Moteleb; Al Menabawy, Nihal; Busehail, Maryam; AlShaikh, Mohammed; Gilani, Naser; Chalabi, Dler Nooruldeen; Alharbi, Nasser S.; Alfadhel, Majid; Abdelrahman, Mohammed; Venselaar, Hanka; Anjum, Nadeem; Saeed, Anjum; Alghamdi, Malak Ali; Aljaedi, Hamad; Arabi, Hisham; Karageorgou, Vasiliki; Khan, Suliman; Hajjari, Zahra; Radefeldt, Mandy; Al-Ali, Ruslan; Tripolszki, Kornelia; Jamhawi, Amer; Paknia, Omid; Cozma, Claudia; Cheema, Huma; Ameziane, Najim; Al-Muhsen, Saleh; Bauer, Peter

Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

GENETICS IN MEDICINE

IF6.2

2021-09-0123

OAAI

Wortmann, Saskia B.; Zietkiewicz, Szymon; Guerrero-Castillo, Sergio; Feichtinger, Rene G.; Wagner, Matias; Russell, Jacqui; Ellaway, Carolyn; Mroz, Dagmara; Wyszkowski, Hubert; Weis, Denisa; Hannibal, Iris; von Stuelpnagel, Celina; Cabrera-Orefice, Alfredo; Lichter-Konecki, Uta; Gaesser, Jenna; Windreich, Randy; Myers, Kasiani C.; Lorsbach, Robert; Dale, Russell C.; Gersting, Soren; Prada, Carlos E.; Christodoulou, John; Wolf, Nicole I.; Venselaar, Hanka; Mayr, Johannes A.; Wevers, Ron A.

Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency (Jun, 10.1038/s41436-021-01194-x, 2021)

GENETICS IN MEDICINE

IF6.2

2021-09-010

OAAI

Wortmann, Saskia B.; Zietkiewicz, Szymon; Guerrero-Castillo, Sergio; Feichtinger, Rene G.; Wagner, Matias; Russell, Jacqui; Ellaway, Carolyn; Mroz, Dagmara; Wyszkowski, Hubert; Weis, Denisa; Hannibal, Iris; von Stulpnagel, Celina; Cabrera-Orefice, Alfredo; Lichter-Konecki, Uta; Gaesser, Jenna; Windreich, Randy; Myers, Kasiani C.; Lorsbach, Robert; Dale, Russell C.; Gersting, Soren; Prada, Carlos E.; Christodoulou, John; Wolf, Nicole I.; Venselaar, Hanka; Mayr, Johannes A.; Wevers, Ron A.

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations

MOLECULAR THERAPY

IF12

2021-08-0186

OAAI

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

GENETICS IN MEDICINE

IF6.2

2021-07-017

OAAI

Polla, Daniel L.; Farazi Fard, Mohammad Ali; Tabatabaei, Zahra; Habibzadeh, Parham; Levchenko, Olga A.; Nikuei, Pooneh; Makrythanasis, Periklis; Hussain, Mureed; von Hardenberg, Sandra; Zeinali, Sirous; Fallah, Mohammad-Sadegh; Schuurs-Hoeijmakers, Janneke H. M.; Shahzad, Mohsin; Fatima, Fareeha; Fatima, Neelam; Kaat, Laura Donker; Bruggenwirth, Hennie T.; Fleming, Leah R.; Condie, John; Ploski, Rafal; Pollak, Agnieszka; Pilch, Jacek; Demina, Nina A.; Chukhrova, Alena L.; Sergeeva, Vasilina S.; Venselaar, Hanka; Masri, Amira T.; Hamamy, Hanan; Santoni, Federico A.; Linda, Katrin; Ahmed, Zubair M.; Nadif Kasri, Nael; de Brouwer, Arjan P. M.; Bergmann, Anke K.; Hethey, Sven; Yavarian, Majid; Ansar, Muhammad; Riazuddin, Saima; Riazuddin, Sheikh; Silawi, Mohammad; Ruggeri, Gaia; Pirozzi, Filomena; Eftekhar, Ebrahim; Taghipour Sheshdeh, Afsaneh; Bahramjahan, Shima; Mirzaa, Ghayda M.; Lavrov, Alexander V.; Antonarakis, Stylianos E.; Faghihi, Mohammad Ali; van Bokhoven, Hans

Bifunctional protein PCBD2 operates as a co-factor for hepatocyte nuclear factor 1β and modulates gene transcription

FASEB JOURNAL

IF4.2

2021-03-228

Hanka Venselaar

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