Publikationen 2024

Weber S, Sitte S, Voegele AL, Sologub L, Wilfer A, Rath T, Nägel A, Zundler S, Franci L, Opipari AW, Sonnewald S, Reid S, Hartmann A, Eichhorn P, Handtrack C, Weber K, Grützmann R, Neufert C, Schellerer VS, Naschberger E, Ekici AB, Büttner C, Neurath MF, Atreya R: (2024) NLRP3 Inhibition Leads to Impaired Mucosal Fibroblast Function in Patients with Inflammatory Bowel Diseases. J Crohns Colitis. 2024;18(3): 446-461
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Zeev BB, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS: (2024) Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain. 2024;147(5): 1837-1855
Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, Chatron N, Chrzanowska K, Codina-Solà M, Colson C, Cuscó I, Denommé-Pichon AS, Edery P, Faivre L, Green A, Heide S, Hsieh TC, Hustinx A, Kleinendorst L, Knopp C, Kraft F, Krawitz PM, Lasa-Aranzasti A, Lesca G, López-González V, Maraval J, Mignot C, Neuhann T, Netzer C, Oehl-Jaschkowitz B, Petit F, Philippe C, Posmyk R, Putoux A, Reis A, Sánchez-Soler MJ, Suh J, Tkemaladze T, Tran Mau Them F, Travessa A, Trujillano L, Valenzuela I, van Haelst MM, Vasileiou G, Vincent-Delorme C, Walther M, Verde P, Bramswig NC, Wieczorek D: (2024) Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals. Hum Genet. 2024;143(1): 71-84
Al-Kateb H, Au PYB, Berland S, Cogne B, Demurger F, Fluss J, Isidor B, Frank LM, Varvagiannis K, Koolen DA, McDonald M, Montgomery S, Moortgat S, Deprez M, Karadurmus D, Paulsen J, Reis A, Rieger M, Vasileiou G, Willing M, Shinawi M: (2024) CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review. Clin Genet. 2024;105(3): 294-301
Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SV, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, Rubboli G: (2024) Developmental epileptic encephalopathy in DLG4-related synaptopathy. Epilepsia. 2024;65(4): 1029-1045
Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, Maraval J, Bruel AL, Them FTM, Haack TB, Grasshoff U, Horber V, Schot R, van Slegtenhorst M, Wilke M, Barakat TS: (2024) Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder. Eur J Hum Genet. 2024;32(3): 350-356
Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, Gaspar H, Kopps AM, Rieubland C, Hurst ACE, Amor DJ, Nizon M, Pasquier L, Pfundt R, Reis A, Siu VM, Tessarech M, Thompson ML, Vincent M, de Vries BBA, Walsh MB, Wechsler SB, Zweier C, Schnur RE, Guillen Sacoto MJ, Margot H, Masotto B, Palafoll MIV, Nawaz U, Voineagu I, Slavotinek A: (2024) De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. Am J Med Genet A. 2024;194(7):
Rauber S, Mohammadian H, Schmidkonz C, Atzinger A, Soare A, Treutlein C, Kemble S, Mahony CB, Geisthoff M, Angeli MR, Raimondo MG, Xu C, Yang KT, Lu L, Labinsky H, Saad MSA, Gwellem CA, Chang J, Huang K, Kampylafka E, Knitza J, Bilyy R, Distler JHW, Hanlon MM, Fearon U, Veale DJ, Roemer FW, Bäuerle T, Maric HM, Maschauer S, Ekici AB, Buckley CD, Croft AP, Kuwert T, Prante O, Cañete JD, Schett G, Ramming A: (2024) CD200+ fibroblasts form a pro-resolving mesenchymal network in arthritis. Nat Immunol. 2024;25(4): 682-692
Charras A, Hofmann SR, Cox A, Schulze F, Russ S, Northey S, Liu X, Fang Y, Haldenby S, Hartmann H, Bassuk AG, Carvalho A, Sposito F, Grinstein L, Rösen-Wolff A, Meyer-Bahlburg A, Beresford MW, Lainka E, Föll D, Wittkowski H, Girschick HJ, Morbach H, Uebe S, Hüffmeier U, Ferguson PJ, Hedrich CM: (2024) P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO). J Autoimmun. 2024;144():
Mammadova D, Kraus C, Leis T, Popp B, Zweier C, Reis A, Trollmann R: (2024) Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A. Front Neurol. 2024;15():
Carpentieri G, Cecchetti S, Bocchinfuso G, Radio FC, Leoni C, Onesimo R, Calligari P, Pietrantoni A, Ciolfi A, Ferilli M, Calderan C, Cappuccio G, Martinelli S, Messina E, Caputo V, Hüffmeier U, Mignot C, Auvin S, Capri Y, Lourenco CM, Russell BE, Neustad A, Brunetti Pierri N, Keren B, Reis A, Cohen JS, Heidlebaugh A, Smith C, Thiel CT, Salviati L, Zampino G, Campeau PM, Stella L, Tartaglia M, Flex E: (2024) Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function. HGG Adv. 2024;5(4):
de Fallois J, Sieckmann T, Schönauer R, Petzold F, Münch J, Pauly M, Vasileiou G, Findeisen C, Kampmeier A, Kuechler A, Reis A, Decker E, Bergmann C, Platzer K, Tasic V, Kirschner KM, Shril S, Hildebrandt F, Chung WK, Halbritter J: (2024) Pathogenic PHIP Variants are Variably Associated With CAKUT. Kidney Int Rep. 2024;9(8): 2484-2497
Reis A: (2024) Award of the GfH Medal of Honor 2024 to Dr. rer. nat. Holger Prokisch Med. Genet.. 2024;36(3): 201-202
Interdonato L, Himmelreich N, Garbade SF, Wen D, Morath M, Di Paola R, Calabrese V, Thiel C, Peters V: (2024) Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylation. Mol Genet Metab. 2024;143(1-2):
Wopperer FJ, Olinger E, Wiesener A, Broeker KAE, Knaup KX, Schaefer JT, Galiano M, Schneider K, Schiffer M, Genomics England Research Consortium , Büttner-Herold M, Reis A, Schmieder R, Pasutto F, Hilgers KF, Poglitsch M, Ziegler C, Shoemaker R, Sayer JA, Wiesener MS: (2024) Progressive Kidney Failure by Angiotensinogen Inactivation in the Germline. Hypertension. 2024;81(9): 1857-1868
Bosch E, Güse E, Kirchner P, Winterpacht A, Walther M, Alders M, Kerkhof J, Ekici AB, Sticht H, Sadikovic B, Reis A, Vasileiou G: (2024) The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation. Hum Genet. 2024;143(8): 965-978
Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Barañano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM: (2024) MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. Am J Hum Genet. 2024;111(7): 1330-1351
Chiu C, Küchler A, Depienne C, Preuße C, Marina AD, Reis A, Kaiser FJ, Nolte K, Hentschel A, Schara-Schmidt U, Kölbel H, Roos A: (2024) Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome. Skelet Muscle. 2024;14(1):
Fasching PA, Hu C, Hart SN, Ruebner M, Polley EC, Gnanaolivu RD, Hartkopf AD, Huebner H, Janni W, Hadji P, Tesch H, Uhrig S, Ettl J, Lux MP, Lüftner D, Wallwiener M, Wurmthaler LA, Goossens C, Müller V, Beckmann MW, Hein A, Anetsberger D, Belleville E, Wimberger P, Untch M, Ekici AB, Kolberg HC, Hartmann A, Taran FA, Fehm TN, Wallwiener D, Brucker SY, Schneeweiss A, Häberle L, Couch FJ: (2024) Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer. NPJ Breast Cancer. 2024;10(1):
Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, Cejudo L, Chong JX, De Luca C, Dean SJ, Egense A, Goel H, Guenzel AJ, Hüffmeier U, Legius E, Mancini GMS, Marcos-Alcalde I, Niclass T, Planes M, Redon S, Ros-Pardo D, Rouault K, Schot R, Schuhmann S, Shen JJ, Tao AM, Thiffault I, Van Esch H, Wentzensen IM, Barakat TS, Møller RS, Gomez-Puertas P, Chung WK, Gardella E, Tümer Z: (2024) The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants. Clin Genet. 2024;106(5): 574-584
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Toutain A, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Synodinos JT, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, Guyader GLE, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM: (2024) Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. Eur J Hum Genet. 2024;32(8):
Pauly M, Krumbiegel M, Trumpp S, Braig S, Rupprecht T, Kraus C, Uebe S, Reis A, Vasileiou G: (2024) Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2. Clin Genet. 2024;106(2): 180-186
Reis A: (2024) A birthday greeting for Ingo Hansmann on his 80th birthday Med. Genet.. 2024;36(1): 75-76
Omata Y, Okada H, Uebe S, Izawa N, Ekici AB, Sarter K, Saito T, Schett G, Tanaka S, Zaiss MM: (2024) Correction to: Interspecies Single Cell RNA Seq Analysis Reveals the Novel Trajectory of Osteoclast Differentiation and Therapeutic Targets. JBMR Plus. 2024;8(3):
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Undiagnosed Diseases Network , Bacino CA, Lee BH, Chao HT, Acosta MT, Adam M, Adams DR, Alvarez RL, Alvey J, Amendola L, Andrews A, Ashley EA, Bacino CA, Bademci G, Balasubramanyam A, Baldridge D, Bale J, Bamshad M, Barbouth D, Bayrak-Toydemir P, Beck A, Beggs AH, Behrens E, Bejerano G, Bellen HJ, Bennett J, Berg-Rood B, Bernstein JA, Berry GT, Bican A, Bivona S, Blue E, Bohnsack J, Bonner D, Botto L, Boyd B, Briere LC, Brown G, Burke EA, Burrage LC, Butte MJ, Byers P, Byrd WE, Carey J, Carrasquillo O, Cassini T, Chang TCP, Chanprasert S, Chao HT, Chinn I, Clark GD, Coakley TR, Cobban LA, Cogan JD, Coggins M, Cole FS, Colley HA, Cope H, Corona R, Craigen WJ, Crouse AB, Cunningham M, D'Souza P, Dai H, Dasari S, Davis J, Dayal JG, Dell'Angelica EC, Dipple K, Doherty D, Dorrani N, Doss AL, Douine ED, Earl D, Eckstein DJ, Emrick LT, Eng CM, Falk M, Fieg EL, Fisher PG, Fogel BL, Forghani I, Gahl WA, Glass I, Gochuico B, Goddard PC, Godfrey RA, Golden-Grant K, Grajewski A, Hadley D, Hahn S, Halley MC, Hamid R, Hassey K, Hayes N, High F, Hing A, Hisama FM, Holm IA, Hom J, Horike-Pyne M, Huang A, Hutchison S, Introne W, Isasi R, Izumi K, Jamal F, Jarvik GP, Jarvik J, Jayadev S, Jean-Marie O, Jobanputra V, Karaviti L, Ketkar S, Kiley D, Kilich G, Kobren SN, Kohane IS, Kohler JN, Korrick S, Kozuira M, Krakow D, Krasnewich DM, Kravets E, Lalani SR, Lam B, Lam C, Lanpher BC, Lanza IR, LeBlanc K, Lee BH, Levitt R, Lewis RA, Liu P, Liu XZ, Longo N, Loo SK, Loscalzo J, Maas RL, Macnamara EF, MacRae CA, Maduro VV, Maghiro AS, Mahoney R, Malicdan MCV, Mamounas LA, Manolio TA, Mao R, Maravilla K, Marom R, Marth G, Martin BA, Martin MG, Martínez-Agosto JA, Marwaha S, McCauley J, McConkie-Rosell A, McCray AT, McGee E, Mefford H, Merritt JL, Might M, Mirzaa G, Morava E, Moretti P, Mulvihill J, Nakano-Okuno M, Nelson SF, Newman JH, Nicholas SK, Nickerson D, Nieves-Rodriguez S, Novacic D, Oglesbee D, Orengo JP, Pace L, Pak S, Pallais JC, Palmer CGS, Papp JC, Parker NH, Phillips Iii JA, Posey JE, Potocki L, Pusey Swerdzewski BN, Quinlan A, Rao DA, Raper A, Raskind W, Renteria G, Reuter CM, Rives L, Robertson AK, Rodan LH, Rosenfeld JA, Rosenwasser N, Rossignol F, Ruzhnikov M, Sacco R, Sampson JB, Saporta M, Schaechter J, Schedl T, Schoch K, Scott DA, Scott CR, Seto E, Shashi V, Shin J, Silverman EK, Sinsheimer JS, Sisco K, Smith EC, Smith KS, Solnica-Krezel L, Solomon B, Spillmann RC, Stoler JM, Sullivan K, Sullivan JA, Sun A, Sutton S, Sweetser DA, Sybert V, Tabor HK, Tan QK, Tan ALM, Tarakad A, Tekin M, Telischi F, Thorson W, Tifft CJ, Toro C, Tran AA, Ungar RA, Urv TK, Vanderver A, Velinder M, Viskochil D, Vogel TP, Wahl CE, Walker M, Wallace S, Walley NM, Wambach J, Wan J, Wang LK, Wangler MF, Ward PA, Wegner D, Weisz Hubshman M, Wener M, Wenger T, Westerfield M, Wheeler MT, Whitlock J, Wolfe LA, Worley K, Xiao C, Yamamoto S, Yang J, Zhang Z, Zuchner S: (2024) A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024;111(1): 96-118
Hueffmeier U, Kraus C, Rieger M, Blum K, Willms A, Hueber A, Naumann-Bartsch N, Karow A, Fecker G, Hoerning A, Galiano M, Rech J, Krickau T, Reis A: (2024) Exome sequencing of individuals and families with suspected monogenic primary immunodeficiencies experiences of a single center Eur J Hum Genet. 2024;32 Suppl 1(): 447-448
Zhang S, Yun D, Yang H, Eckstein M, Elbait GD, Zhou Y, Lu Y, Yang H, Zhang J, Dörflein I, Britzen-Laurent N, Pfeffer S, Stemmler MP, Dahl A, Mukhopadhyay D, Chang D, He H, Zeng S, Lan B, Frey B, Hampel C, Lentsch E, Gollavilli PN, Büttner C, Ekici AB, Biankin A, Schneider-Stock R, Ceppi P, Grützmann R, Pilarsky C: (2024) Roflumilast inhibits tumor growth and migration in STK11/LKB1 deficient pancreatic cancer. Cell Death Discov. 2024;10(1):
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Traeger Synodinos J, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, L E Guyader G, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM: (2024) Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. Eur J Hum Genet. 2024;32(8): 928-937
Schmid C, Gregor A, Costain G, Morel C, Massingham L, Schwab J, Quelin C, Faoucher M, Kaplan J, Procopio R, Sauders CJ, Cohen ASA, Lemire G, Sacharow S, O'Donnell-Luria A, Jaron R, Shamshoni J, Schweitzer D, Ebrahimi-Fakhari D, Monaghan K, Palculict T, Napier M, Tao A, Isidor B, Moradkhani K, Reis A, Sticht H, Chung W, Zweier C: (2024) LHX2 haploinsufficiency causes a variable neurodevelopmental disorder Eur J Hum Genet. 2024;32 Suppl 1(): 48-49
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia Moya L, García-Miñaúr S, Osmond M, Chad L, Quercia N, Carrasco D, Li C, Sanchez-Valle A, Kelley M, Nizon M, Jensson BO, Sulem P, Stefansson K, Gorokhova S, Busa T, Rio M, Hadj Habdallah H, Lesieur-Sebellin M, Amiel J, Pingault V, Mercier S, Vincent M, Philippe C, Fatus-Fauconnier C, Friend K, Halligan RK, Biswas S, Rosser J, Shoubridge C, Corbett M, Barnett C, Gecz J, Leppig K, Slavotinek A, Marcelis C, Pfundt R, de Vries BB, van Slegtenhorst MA, Brooks AS, Cogne B, Rambaud T, Tümer Z, Zackai EH, Akizu N, Song Y, Hakonarson H: (2024) Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. J Clin Invest. 2024;134(1):
Bosch E, Guese E, Kirchner P, Hebebrand M, Ekici AB, Reis A, Vasileiou G: (2024) Resolving pathogenicity of non-truncating ARID1B variants in Coffin-Siris syndrome Eur J Hum Genet. 2024;32 Suppl 1(): 467-468
Hayatu MD, Hueffmeir U, Uebe S, Ekici AB, Moessner R, Magnolo N, Philipp S, Prinz JC, Schaekel K, Sondermann W, Sticherling M, Gerdes S, Wilsmann-Theis D: (2024) Genotype-phenotype correlation analysis in patients with generalized pustular psoriasis Eur J Hum Genet. 2024;32 Suppl 1(): 411-412
Richter S, Böttcher M, Stoll A, Zeremski V, Völkl S, Mackensen A, Ekici AB, Jacobs B, Mougiakakos D: (2024) Increased PD-1 Expression on Circulating T Cells Correlates with Inferior Outcome after Autologous Stem Cell Transplantation. Transplant Cell Ther. 2024;30(6): 628.e1-628.e9
Mensah MA, Niskanen H, Magalhaes A, Basu S, Kircher M, Sczakiel H, Reiter AMV, Elsner J, Meinecke P, Biskup S, Chung BHY, Dombrowsky G, Eckmann-Scholz C, Hitz MP, Hoischen A, Holterhus PM, Huelsemann W, Kahrizi K, Kalscheuer V, Kan A, Krumbiegel M, Kurth I, Leubner J, Longardt AC, Moritz JD, Najmabadi H, Skipalova K, Blok LS, Tzschach A, Zenker M, Wiedersberg E, Garcia-Cabau C, Buschow R, Salvatella X, Kraushar M, Mundlos S, Caliebe A, Spielmann M, Horn D, Hnisz D: (2024) Aberrant phase separation and nucleolar dysfunction in rare genetic diseases Eur J Hum Genet. 2024;32 Suppl 1(): 44-45
Kollerits B, Gruber S, Steinbrenner I, Schwaiger JP, Weissensteiner H, Schönherr S, Forer L, Kotsis F, Schultheiss UT, Meiselbach H, Wanner C, Eckardt KU, Kronenberg F, GCKD Investigators , Schneider MP, Schiffer M, Prokosch HU, Bärthlein B, Beck A, Reis A, Ekici AB, Becker S, Alberth-Schmidt U, Weigel A, Marschall S, Schefler E, Walz G, Köttgen A, Schultheiß UT, Meder S, Mitsch E, Reinhard U, Floege J, Saritas T, Gross A, Schaeffner E, Baid-Agrawal S, Theisen K, Haller H, Zeier M, Sommerer C, Aykac M, Wolf G, Busch M, Steiner A, Sitter T, Krane V, Börner-Klein A, Bauer B, Oefner P, Gronwald W, Schmid M, Nadal J: (2024) Apolipoprotein A-IV concentrations and cancer in a large cohort of chronic kidney disease patients: results from the GCKD study. BMC Cancer. 2024;24(1):
Stamellou E, Nadal J, Hendry B, Mercer A, Bechtel-Walz W, Schiffer M, Eckardt KU, Kramann R, Moeller MJ, Floege J, GCKD study investigators , Eckardt KU, Meiselbach H, Schneider MP, Schiffer M, Prokosch HU, Bärthlein B, Beck A, Reis A, Ekici AB, Becker S, Alberth-Schmidt U, Marschall S, Weigel A, Walz G, Köttgen A, Schultheiß UT, Kotsis F, Meder S, Mitsch E, Reinhard U, Floege J, Saritas T, Schaeffner E, Baid-Agrawal S, Theisen K, Schmidt-Ott K, Zeier M, Sommerer C, Aykac M, Wolf G, Busch M, Steiner A, Sitter T, Wanner C, Krane V, Bauer B, Kronenberg F, Raschenberger J, Kollerits B, Forer L, Schönherr S, Weissensteiner H, Oefner P, Gronwald W, Schmid M, Nadal J: (2024) Long-term outcomes of adults with FSGS in the German Chronic Kidney Disease cohort. Clin Kidney J. 2024;17(7):
Stamellou E, Nadal J, Hendry B, Mercer A, Seikrit C, Bechtel-Walz W, Schmid M, Moeller MJ, Schiffer M, Eckardt KU, Kramann R, Floege J, GCKD study investigators , Eckardt KU, Meiselbach H, Schneider MP, Schiffer M, Prokosch HU, Bärthlein B, Beck A, Reis A, Ekici AB, Becker S, Alberth-Schmidt U, Marschall S, Weigel A, Walz G, Köttgen A, Schultheiß UT, Kotsis F, Meder S, Mitsch E, Reinhard U, Floege J, Saritas T, Schaeffner E, Baid-Agrawal S, Theisen K, Schmidt-Ott K, Zeier M, Sommerer C, Aykac M, Wolf G, Busch M, Steiner A, Sitter T, Wanner C, Krane V, Bauer B, Kronenberg F, Raschenberger J, Kollerits B, Forer L, Schönherr S, Weissensteiner H, Oefner P, Gronwald W, Schmid M, Nadal J: (2024) Long-term outcomes of patients with IgA nephropathy in the German CKD cohort. Clin Kidney J. 2024;17(8):
Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC, C4RCD Research Group , Telethon Undiagnosed Disease Program (TUDP) , University of Washington Center for Mendelian Genomics (UW-CMG) , de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C, Ramsey K, Peron A, Accogli A, Capra V, Morleo M, Scala M, Zollino M: (2024) BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations. Eur J Hum Genet. 2024;():
Baumann A, Ruckert C, Meier C, Hutschenreiter T, Remy R, Schnur B, Döbel M, Fankep RCN, Skowronek D, Kutz O, Arnold N, Katzke AL, Forster M, Kobiela AL, Thiedig K, Zimmer A, Ritter J, Weber BHF, Honisch E, Hackmann K, Bioinformatics Working Group of the German Consortium for Hereditary Breast &amp; Ovarian Cancer , Schmidt G, Sturm M, Ernst C, Drukewitz S, Engel C, Frommolt P, Groß E, Helmuth J, Kowalzyk Z, Radtke M, Ramser J, Uebe S, Wang-Gohrke S: (2024) Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci. Eur J Hum Genet. 2024;32(8): 987-997
Pauly M, Hüffmeier U, Schmitt-Haendle M: (2024) Clubbing of Fingers and Nails in Primary Hypertrophic Osteoarthropathy Type 1. Dtsch Arztebl Int. 2024;121(21):
Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R, de Boer E, Kummeling J, van Bon B, van Bokhoven H, Kasri NN, Venselaar H, Alders M, Kerkhof J, McConkey H, Kuechler A, Elffers B, van Beeck Calkoen R, Hofman S, Smith A, Valenzuela MI, Srivastava S, Frazier Z, Maystadt I, Piscopo C, Merla G, Balasubramanian M, Santen GWE, Metcalfe K, Park SM, Pasquier L, Banka S, Donnai D, Weisberg D, Strobl-Wildemann G, Wagemans A, Vreeburg M, Baralle D, Foulds N, Scurr I, Brunetti-Pierri N, van Hagen JM, Bijlsma EK, Hakonen AH, Courage C, Genevieve D, Pinson L, Forzano F, Deshpande C, Kluskens ML, Welling L, Plomp AS, Vanhoutte EK, Kalsner L, Hol JA, Putoux A, Lazier J, Vasudevan P, Ames E, O'Shea J, Lederer D, Fleischer J, O'Connor M, Pauly M, Vasileiou G, Reis A, Kiraly-Borri C, Bouman A, Barnett C, Nezarati M, Borch L, Beunders G, Özcan K, Miot S, Volker-Touw CML, van Gassen KLI, Cappuccio G, Janssens K, Mor N, Shomer I, Dominissini D, Tedder ML, Muir AM, Sadikovic B, Brunner HG, Vissers LELM, Shinkai Y, Kleefstra T: (2024) Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. Am J Hum Genet. 2024;111(8): 1605-1625
Schmid CM, Gregor A, Ruiz A, Manso Bazús C, Herman I, Ammouri F, Kotzaeridou U, McNiven V, Dupuis L, Steindl K, Begemann A, Rauch A, Suter AA, Isidor B, Mercier S, Nizon M, Cogné B, Deb W, Besnard T, Haack TB, Falb RJ, Müller AJ, Linden T, Haldeman-Englert CR, Ockeloen CW, Mattioli F, Reymond A, Ibrahim N, Naz S, Lacaze E, Bassetti JA, Hoefele J, Brunet T, Riedhammer KM, Elloumi HZ, Person R, Zou F, Kahle JJ, Cremer K, Schmidt A, Delrue MA, Almeida PM, Ramos F, Srivastava S, Quinlan A, Robertson S, Manka E, Kuechler A, Spranger S, Nowaczyk MJM, Elshafie RM, Alsharhan H, Hillman PR, Dunnington LA, Braakman HMH, McKee S, Moresco A, Ignat AD, Newbury-Ecob R, Banneau G, Patat O, Kuerbitz J, Rzucidlo S, Sell SS, Gordon P, Schuhmann S, Reis A, Halleb Y, Stoeva R, Keren B, Al Masseri Z, Tümer Z, Hammer-Hansen S, Krüger Sølyst S, Steigerwald CG, Abreu NJ, Faust H, Müller-Nedebock A, Tran Mau-Them F, Sticht H, Zweier C: (2024) Further delineation of the SCAF4-associated neurodevelopmental disorder. Eur J Hum Genet. 2024;():
Rauch A, Reis A: (2024) Nachruf John M. Opitz, geboren in Hamburg am 15.08.1935, verstorben 31. Oktober 2023 in Salt Lake City, Utah, U. S. A. Med. Genet.. 2024;36(4): 275-276
Pilgram L, Meurers T, Malin B, Schaeffner E, Eckardt KU, Prasser F, GCKD Investigators , Meiselbach H, P Schneider M, Schiffer M, Prokosch HU, Bärthlein B, Beck A, Kraska D, Reis A, B Ekici A, Becker S, Alberth-Schmidt U, Marschall S, Schefler E, Weigel A, Walz G, Köttgen A, T Schultheiß U, Kotsis F, Meder S, Mitsch E, Reinhard U, Floege J, Saritas T, Gross A, Baid-Agrawal S, Theisen K, Schmidt-Ott K, Martin Z, Sommerer C, Aykac M, Wolf G, Busch M, Paul R, Sitter T, Wanner C, Krane V, Börner-Klein A, Bauer B, Kronenberg F, Raschenberger J, Kollerits B, Forer L, Schönherr S, Weissensteiner H, Oefner P, Gronwald W, Schmid M, Nadal J: (2024) The Costs of Anonymization: Case Study Using Clinical Data. J Med Internet Res. 2024;26():
Steinbrenner I, Kotsis F, Kosch R, Meiselbach H, Bärthlein B, Stockmann H, Lipovsek J, Zacharias HU, Altenbuchinger M, Dienemann T, Wytopil M, Bächle H, Sommerer C, Titze S, Weigel A, Weissensteiner H, Schönherr S, Forer L, Kurz NS, Menne J, Schlieper G, Schneider MP, Schaeffner E, Kielstein JT, Sitter T, Floege J, Wanner C, Kronenberg F, Köttgen A, Busch M, Krane V, Schmid M, Eckardt KU, Schultheiss UT, GCKD Investigators , Eckardt KU, Meiselbach H, Schneider MP, Schiffer M, Prokosch HU, Bärthlein B, Beck A, Reis A, Ekici AB, Becker S, Alberth-Schmidt U, Weigel A, Marschall S, Schefler E, Walz G, Köttgen A, Schultheiß UT, Kotsis F, Meder S, Mitsch E, Reinhard U, Floege J, Saritas T, Groß A, Schaeffner E, Baid-Agrawal S, Theisen K, Schmidt-Ott K, Zeier M, Sommerer C, Aykac M, Wolf G, Busch M, Steiner A, Sitter T, Wanner C, Krane V, Börner-Klein A, Bauer B, Kronenberg F, Raschenberger J, Kollerits B, Forer L, Schönherr S, Weissensteiner H, Oefner P, Gronwald W, Schmid M, Nadal J: (2024) Interactive exploration of adverse events and multimorbidity in CKD. Nephrol Dial Transplant. 2024;39(12): 2016-2024
Willim J, Woike D, Greene D, Das S, Pfeifer K, Yuan W, Lindsey A, Itani O, Böhme AL, Tibbe D, Hönck HH, Hassani Nia F, Undiagnosed Diseases Network , Zech M, Brunet T, Faivre L, Sorlin A, Vitobello A, Smol T, Colson C, Baranano K, Schatz K, Bayat A, Schoch K, Spillmann R, Davis EE, Conboy E, Vetrini F, Platzer K, Neuser S, Gburek-Augustat J, Grace AN, Mitchell B, Stegmann A, Sinnema M, Meeks N, Saunders C, Cadieux-Dion M, Hoyer J, Van-Gils J, de Sainte-Agathe JM, Thompson ML, Bebin EM, Weisz-Hubshman M, Tabet AC, Verloes A, Levy J, Latypova X, Harder S, Silverman GA, Pak SC, Schedl T, Freson K, Mumford A, Turro E, Schlein C, Shashi V, Kreienkamp HJ: (2024) Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors. Nat Commun. 2024;15(1):
van der Sluijs PJ, Gösgens M, Dingemans AJM, Striano P, Riva A, Mignot C, Faudet A, Vasileiou G, Walther M, Schrier Vergano SA, Alders M, Alkuraya FS, Alorainy I, Alsaif HS, Anderlid B, Bache I, van Beek I, Blanluet M, van Bon BW, Brunet T, Brunner H, Carriero ML, Charles P, Chatron N, Coccia E, Dubourg C, Earl RK, Eichler EE, Faivre L, Foulds N, Graziano C, Guerrot AM, Hashem MO, Heide S, Heron D, Hickey SE, Hopman SMJ, Kattentidt-Mouravieva A, Kerkhof J, Klein Wassink-Ruiter JS, Kurtz-Nelson EC, Kušíková K, Kvarnung M, Lecoquierre F, Leszinski GS, Loberti L, Magoulas PL, Mari F, Maystadt I, Merla G, Milunsky JM, Moortgat S, Nicolas G, Leary MO', Odent S, Ozmore JR, Parbhoo K, Pfundt R, Piccione M, Pinto AM, Popp B, Putoux A, Rehm HL, Reis A, Renieri A, Rosenfeld JA, Rossi M, Salzano E, Saugier-Veber P, Seri M, Severi G, Sonmez FM, Strobl-Wildemann G, Stuurman KE, Uctepe E, Van Esch H, Vitetta G, de Vries BBA, Wahl D, Wang T, Zacher P, Heitink KR, Ropers FG, Steenbeek D, Rybak T, Santen GWE: (2024) ARID1B-related disorder in 87 adults: Natural history and self-sustainability. Genet Med Open. 2024;2():

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