Davor Lessel

Affiliations
  • Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.

Publications (50)

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Joanna Kennedy , David Goudie , Edward Blair , Kate Chandler , Shelagh Joss , Victoria McKay , Andrew Green , Ruth Armstrong , Melissa Lees , Benjamin Kamien , Bruce Hopper , Tiong Yang Tan , Patrick Yap , Zornitza Stark , Nobuhiko Okamoto , Noriko Miyake , Naomichi Matsumoto , Ellen Macnamara , Jennifer L Murphy , Elizabeth McCormick , Hakon Hakonarson , Marni J Falk , Dong Li , Patrick Blackburn , Eric Klee , Dusica Babovic-Vuksanovic , Susan Schelley , Louanne Hudgins , Sarina Kant , Bertrand Isidor , Benjamin Cogne , Kimberley Bradbury , Mark Williams , Chirag Patel , Helen Heussler , Celia Duff-Farrier , Phillis Lakeman , Ingrid Scurr , Usha Kini , Mariet Elting , Margot Reijnders , Janneke Schuurs-Hoeijmakers , Mohamed Wafik , Anne Blomhoff , Claudia A L Ruivenkamp , Esther Nibbeling , Alexander J M Dingemans , Emilie D Douine , Stanley F Nelson , Auteur inconnu , Maja Hempel , Tatjana Bierhals , Jessika Johannsen , Valerie A Arboleda , Ruth Newbury-Ecob

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain : a journal of neurology
Avec: Christopher C Y Mak , Dan Doherty , Angela E Lin , Nancy Vegas , Megan T Cho , Géraldine Viot , Clémantine Dimartino , James D Weisfeld-Adams , Shelagh Joss , Chumei Li , Claudia Gonzaga-Jauregui , Yuri A Zarate , Nadja Ehmke , Denise Horn , Caitlin Troyer , Sarina G Kant , Youngha Lee , Gisele E Ishak , Gordon Leung , Amanda Barone Pritchard , Sandra Yang , Eric G Bend , Francesca Filippini , Chelsea Roadhouse , Nicolas Lebrun , Michele G Mehaffey , Pierre-Marie Martin , Benjamin Apple , Francisca Millan , Oliver Puk , Mariette J V Hoffer , Lindsay B Henderson , Ruth McGowan , Ingrid M Wentzensen , Steven Pei , Farah R Zahir , Mullin Yu , William T Gibson , Ann Seman , Marcie Steeves , Jill R Murrell , Sabine Luettgen , Elizabeth Francisco , Tim M Strom , Louise Amlie-Wolf , Angela M Kaindl , William G Wilson , Sara Halbach , Lina Basel-Salmon , Noa Lev-El , Jonas Denecke , Lisenka E L M Vissers , Kelly Radtke , Jamel Chelly , Elaine Zackai , Jan M Friedman , Michael J Bamshad , Deborah A Nickerson , Auteur inconnu , Russell R Reid , Koenraad Devriendt , Jong-Hee Chae , Elliot Stolerman , Carey McDougall , Zöe Powis , Thierry Bienvenu , Tiong Y Tan , Naama Orenstein , William B Dobyns , Joseph T Shieh , Murim Choi , Darrel Waggoner , Karen W Gripp , Michael J Parker , Joan Stoler , Stanislas Lyonnet , Valérie Cormier-Daire , David Viskochil , Trevor L Hoffman , Jeanne Amiel , Brian H Y Chung , Christopher T Gordon

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.

Nature communications
Avec: Sahar Elouej , Karim Harhouri , Morgane Le Mao , Genevieve Baujat , Sheela Nampoothiri , Hϋlya Kayserili , Nihal Al Menabawy , Laila Selim , Arianne Llamos Paneque , Christian Kubisch , Robert Rubinsztajn , Chayki Charar , Catherine Bartoli , Coraline Airault , Jean-François Deleuze , Agnes Rötig , Peter Bauer , Catarina Pereira , Abigail Loh , Nathalie Escande-Beillard , Antoine Muchir , Lisa Martino , Yosef Gruenbaum , Song-Hua Lee , Philippe Manivet , Guy Lenaers , Bruno Reversade , Nicolas Lévy , Annachiara De Sandre-Giovannoli

Werner syndrome in a Lebanese family.

American journal of medical genetics. Part A
Avec: Batoul Jaafar , Mona Nasrallah , Bianca Sievers , Junko Oshima ,

Intake Patterns of Specific Alcoholic Beverages by Prostate Cancer Status.

Cancers
Avec: Hui-Yi Lin , Tung-Sung Tseng , Xinnan Wang , Zhide Fang , Arnold H Zea , Liang Wang , Julio Pow-Sang , Catherine M Tangen , Phyllis J Goodman , Alicja Wolk , Niclas Håkansson , Manolis Kogevinas , Javier Llorca , Hermann Brenner , Ben Schöttker , Jose Esteban Castelao , Manuela Gago-Dominguez , Marija Gamulin , Frank Claessens , Steven Joniau , The Practical Consortium , Jong Y Park

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Andrea Accogli , Young N Park , Guy M Lenk , Mariasavina Severino , Marcello Scala , Jonas Denecke , Maja Hempel , Fanny Kortüm , Vincenzo Salpietro , Patrizia de Marco , Sara Guerrisi , Annalaura Torella , Vincenzo Nigro , Myriam Srour , Ernest Turro , Veerle Labarque , Kathleen Freson , Gianluca Piatelli , Valeria Capra , Jacob O Kitzman , Miriam H Meisler

The role of DEAD- and DExH-box RNA helicases in neurodevelopmental disorders.

Frontiers in molecular neuroscience
Avec: Johannes Lederbauer , Sarada Das , Amelie Piton , Hans-Jürgen Kreienkamp

Germline AGO2 mutations impair RNA interference and human neurological development.

Nature communications
Avec: Daniela M Zeitler , Margot R F Reijnders , Andriy Kazantsev , Fatemeh Hassani Nia , Alexander Bartholomäus , Victoria Martens , Astrid Bruckmann , Veronika Graus , Allyn McConkie-Rosell , Marie McDonald , Bernarda Lozic , Ee-Shien Tan , Erica Gerkes , Jessika Johannsen , Jonas Denecke , Aida Telegrafi , Evelien Zonneveld-Huijssoon , Henny H Lemmink , Breana W M Cham , Tanja Kovacevic , Linda Ramsdell , Kimberly Foss , Diana Le Duc , Diana Mitter , Steffen Syrbe , Andreas Merkenschlager , Margje Sinnema , Bianca Panis , Joanna Lazier , Matthew Osmond , Taila Hartley , Jeremie Mortreux , Tiffany Busa , Chantal Missirian , Pankaj Prasun , Sabine Lüttgen , Ilaria Mannucci , Ivana Lessel , Claudia Schob , Stefan Kindler , John Pappas , Rachel Rabin , Marjolein Willemsen , Thatjana Gardeitchik , Katharina Löhner , Patrick Rump , Kerith-Rae Dias , Carey-Anne Evans , Peter Ian Andrews , Tony Roscioli , Han G Brunner , Chieko Chijiwa , M E Suzanne Lewis , Rami Abou Jamra , David A Dyment , Kym M Boycott , Alexander P A Stegmann , Christian Kubisch , Ene-Choo Tan , Ghayda M Mirzaa , Kirsty McWalter , Tjitske Kleefstra , Rolph Pfundt , Zoya Ignatova , Gunter Meister , Hans-Jürgen Kreienkamp

Nine newly identified individuals refine the phenotype associated with MYT1L mutations.

American journal of medical genetics. Part A
Avec: Isabelle C Windheuser , Jessica Becker , Kirsten Cremer , Hela Hundertmark , Laura M Yates , Elisabeth Mangold , Sophia Peters , Franziska Degenhardt , Kerstin U Ludwig , Alexander M Zink , Tatjana Bierhals , Theresia Herget , Jessika Johannsen , Jonas Denecke , Eva Wohlleber , Tim M Strom , Dagmar Wieczorek , Marta Bertoli , Roberto Colombo , Maja Hempel , Hartmut Engels

Hereditary Syndromes with Signs of Premature Aging.

Deutsches Arzteblatt international
Avec: Christian Kubisch

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.

American journal of human genetics
Avec: Felix Marbach , Cecilie F Rustad , Angelika Riess , Dejan Đukić , Tzung-Chien Hsieh , Itamar Jobani , Trine Prescott , Andrea Bevot , Florian Erger , Gunnar Houge , Maria Redfors , Janine Altmueller , Tomasz Stokowy , Christian Gilissen , Christian Kubisch , Emanuela Scarano , Laura Mazzanti , Torunn Fiskerstrand , Peter M Krawitz , Christian Netzer

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Joanna Kennedy , David Goudie , Edward Blair , Kate Chandler , Shelagh Joss , Victoria McKay , Andrew Green , Ruth Armstrong , Melissa Lees , Benjamin Kamien , Bruce Hopper , Tiong Yang Tan , Patrick Yap , Zornitza Stark , Nobuhiko Okamoto , Noriko Miyake , Naomichi Matsumoto , Ellen Macnamara , Jennifer L Murphy , Elizabeth McCormick , Hakon Hakonarson , Marni J Falk , Dong Li , Patrick Blackburn , Eric Klee , Dusica Babovic-Vuksanovic , Susan Schelley , Louanne Hudgins , Sarina Kant , Bertrand Isidor , Benjamin Cogne , Kimberley Bradbury , Mark Williams , Chirag Patel , Helen Heussler , Celia Duff-Farrier , Phillis Lakeman , Ingrid Scurr , Usha Kini , Mariet Elting , Margot Reijnders , Janneke Schuurs-Hoeijmakers , Mohamed Wafik , Anne Blomhoff , Claudia A L Ruivenkamp , Esther Nibbeling , Alexander J M Dingemans , Emilie D Douine , Stanley F Nelson , Auteur inconnu , Maja Hempel , Tatjana Bierhals , Jessika Johannsen , Valerie A Arboleda , Ruth Newbury-Ecob

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.

Neonatology
Avec: Tasja Scholz , Martin Ernst Blohm , Fanny Kortüm , Tatjana Bierhals , Amelie T van der Ven , Jasmin Lisfeld , Theresia Herget , Katja Kloth , Dominique Singer , Anna Perez , Nadia Obi , Jessika Johannsen , Jonas Denecke , René Santer , Christian Kubisch , Philipp Deindl , Maja Hempel

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.

European journal of human genetics : EJHG
Avec: Miriam S Reuter , Michael Zech , Maja Hempel , Janine Altmüller , Tracy Heung , Laura Pölsler , René Santer , Holger Thiele , Brett Trost , Christian Kubisch , Stephen W Scherer , Sabine Rudnik-Schöneborn , Anne S Bassett ,

Publisher Correction: Shared heritability and functional enrichment across six solid cancers.

Nature communications
Avec: Xia Jiang , Hilary K Finucane , Fredrick R Schumacher , Stephanie L Schmit , Jonathan P Tyrer , Younghun Han , Kyriaki Michailidou , Corina Lesseur , Karoline B Kuchenbaecker , Joe Dennis , David V Conti , Graham Casey , Mia M Gaudet , Jeroen R Huyghe , Demetrius Albanes , Melinda C Aldrich , Angeline S Andrew , Irene L Andrulis , Hoda Anton-Culver , Antonis C Antoniou , Natalia N Antonenkova , Susanne M Arnold , Kristan J Aronson , Banu K Arun , Elisa V Bandera , Rosa B Barkardottir , Daniel R Barnes , Jyotsna Batra , Matthias W Beckmann , Javier Benitez , Sara Benlloch , Andrew Berchuck , Sonja I Berndt , Heike Bickeböller , Stephanie A Bien , Carl Blomqvist , Stefania Boccia , Natalia V Bogdanova , Stig E Bojesen , Manjeet K Bolla , Hiltrud Brauch , Hermann Brenner , James D Brenton , Mark N Brook , Joan Brunet , Hans Brunnström , Daniel D Buchanan , Barbara Burwinkel , Ralf Butzow , Gabriella Cadoni , Trinidad Caldés , Maria A Caligo , Ian Campbell , Peter T Campbell , Géraldine Cancel-Tassin , Lisa Cannon-Albright , Daniele Campa , Neil Caporaso , André L Carvalho , Andrew T Chan , Jenny Chang-Claude , Stephen J Chanock , Chu Chen , David C Christiani , Kathleen B M Claes , Frank Claessens , Judith Clements , J Margriet Collée , Marcia Cruz Correa , Fergus J Couch , Angela Cox , Julie M Cunningham , Cezary Cybulski , Kamila Czene , Mary B Daly , Anna deFazio , Peter Devilee , Orland Diez , Manuela Gago-Dominguez , Jenny L Donovan , Thilo Dörk , Eric J Duell , Alison M Dunning , Miriam Dwek , Diana M Eccles , Christopher K Edlund , Digna R Velez Edwards , Carolina Ellberg , D Gareth Evans , Peter A Fasching , Robert L Ferris , Triantafillos Liloglou , Jane C Figueiredo , Olivia Fletcher , Renée T Fortner , Florentia Fostira , Silvia Franceschi , Eitan Friedman , Steven J Gallinger , Patricia A Ganz , Judy Garber , José A García-Sáenz , Simon A Gayther , Graham G Giles , Andrew K Godwin , Mark S Goldberg , David E Goldgar , Ellen L Goode , Marc T Goodman , Gary Goodman , Kjell Grankvist , Mark H Greene , Henrik Gronberg , Jacek Gronwald , Pascal Guénel , Niclas Håkansson , Per Hall , Ute Hamann , Freddie C Hamdy , Robert J Hamilton , Jochen Hampe , Aage Haugen , Florian Heitz , Rolando Herrero , Peter Hillemanns , Michael Hoffmeister , Estrid Høgdall , Yun-Chul Hong , John L Hopper , Richard Houlston , Peter J Hulick , David J Hunter , David G Huntsman , Gregory Idos , Evgeny N Imyanitov , Sue Ann Ingles , Claudine Isaacs , Anna Jakubowska , Paul James , Mark A Jenkins , Mattias Johansson , Mikael Johansson , Esther M John , Amit D Joshi , Radka Kaneva , Beth Y Karlan , Linda E Kelemen , Tabea Kühl , Kay-Tee Khaw , Elza Khusnutdinova , Adam S Kibel , Lambertus A Kiemeney , Jeri Kim , Susanne K Kjaer , Julia A Knight , Manolis Kogevinas , Zsofia Kote-Jarai , Stella Koutros , Vessela N Kristensen , Jolanta Kupryjanczyk , Martin Lacko , Stephan Lam , Diether Lambrechts , Maria Teresa Landi , Philip Lazarus , Nhu D Le , Eunjung Lee , Flavio Lejbkowicz , Heinz-Josef Lenz , Goska Leslie , Jenny Lester , Douglas A Levine , Li Li , Christopher I Li , Annika Lindblom , Noralane M Lindor , Geoffrey Liu , Fotios Loupakis , Jan Lubiński , Lovise Maehle , Christiane Maier , Arto Mannermaa , Loic Le Marchand , Sara Margolin , Taymaa May , Lesley McGuffog , Alfons Meindl , Pooja Middha , Austin Miller , Roger L Milne , Robert J MacInnis , Francesmary Modugno , Marco Montagna , Victor Moreno , Kirsten B Moysich , Lorelei Mucci , Kenneth Muir , Anna Marie Mulligan , Katherine L Nathanson , David E Neal , Andrew R Ness , Susan L Neuhausen , Heli Nevanlinna , Polly A Newcomb , Lisa F Newcomb , Finn Cilius Nielsen , Liene Nikitina-Zake , Børge G Nordestgaard , Robert L Nussbaum , Kenneth Offit , Edith Olah , Ali Amin Al Olama , Olufunmilayo I Olopade , Andrew F Olshan , Håkan Olsson , Ana Osorio , Hardev Pandha , Jong Y Park , Nora Pashayan , Michael T Parsons , Tanja Pejovic , Kathryn L Penney , Wilbert H M Peters , Catherine M Phelan , Amanda I Phipps , Dijana Plaseska-Karanfilska , Miranda Pring , Darya Prokofyeva , Paolo Radice , Kari Stefansson , Susan J Ramus , Leon Raskin , Gad Rennert , Hedy S Rennert , Elizabeth J van Rensburg , Marjorie J Riggan , Harvey A Risch , Angela Risch , Monique J Roobol , Barry S Rosenstein , Mary Anne Rossing , Kim De Ruyck , Emmanouil Saloustros , Dale P Sandler , Elinor J Sawyer , Matthew B Schabath , Johanna Schleutker , Marjanka K Schmidt , V Wendy Setiawan , Hongbing Shen , Erin M Siegel , Weiva Sieh , Christian F Singer , Martha L Slattery , Karina Dalsgaard Sorensen , Melissa C Southey , Amanda B Spurdle , Janet L Stanford , Victoria L Stevens , Sebastian Stintzing , Jennifer Stone , Karin Sundfeldt , Rebecca Sutphen , Anthony J Swerdlow , Eloiza H Tajara , Catherine M Tangen , Adonina Tardon , Jack A Taylor , M Dawn Teare , Manuel R Teixeira , Mary Beth Terry , Kathryn L Terry , Stephen N Thibodeau , Mads Thomassen , Line Bjørge , Marc Tischkowitz , Amanda E Toland , Diana Torres , Paul A Townsend , Ruth C Travis , Nadine Tung , Shelley S Tworoger , Cornelia M Ulrich , Nawaid Usmani , Celine M Vachon , Els Van Nieuwenhuysen , Ana Vega , Miguel Elías Aguado-Barrera , Qin Wang , Penelope M Webb , Clarice R Weinberg , Stephanie Weinstein , Mark C Weissler , Jeffrey N Weitzel , Catharine M L West , Emily White , Alice S Whittemore , H-Erich Wichmann , Fredrik Wiklund , Robert Winqvist , Alicja Wolk , Penella Woll , Michael Woods , Anna H Wu , Xifeng Wu , Drakoulis Yannoukakos , Wei Zheng , Shanbeh Zienolddiny , Argyrios Ziogas , Kristin K Zorn , Jacqueline M Lane , Richa Saxena , Duncan Thomas , Rayjean J Hung , Brenda Diergaarde , James McKay , Ulrike Peters , Li Hsu , Montserrat García-Closas , Rosalind A Eeles , Georgia Chenevix-Trench , Paul J Brennan , Christopher A Haiman , Jacques Simard , Douglas F Easton , Stephen B Gruber , Paul D P Pharoah , Alkes L Price , Bogdan Pasaniuc , Christopher I Amos , Peter Kraft , Sara Lindström

Paralog Studies Augment Gene Discovery: DDX and DHX Genes.

American journal of human genetics
Avec: Ingrid Paine , Jennifer E Posey , Christopher M Grochowski , Shalini N Jhangiani , Sarah Rosenheck , Robert Kleyner , Taylor Marmorale , Margaret Yoon , Kai Wang , Reid Robison , Gerarda Cappuccio , Michele Pinelli , Adriano Magli , Zeynep Coban Akdemir , Joannie Hui , Wai Lan Yeung , Bibiana K Y Wong , Lucia Ortega , Mir Reza Bekheirnia , Tatjana Bierhals , Maja Hempel , Jessika Johannsen , René Santer , Dilek Aktas , Mehmet Alikasifoglu , Sevcan Bozdogan , Hatip Aydin , Ender Karaca , Yavuz Bayram , Hadas Ityel , Michael Dorschner , Janson J White , Ekkehard Wilichowski , Saskia B Wortmann , Erasmo B Casella , Joao Paulo Kitajima , Fernando Kok , Fabiola Monteiro , Donna M Muzny , Michael Bamshad , Richard A Gibbs , V Reid Sutton , Auteur inconnu , Hilde Van Esch , Nicola Brunetti-Pierri , Friedhelm Hildebrandt , Ariel Brautbar , Ignatia B Van den Veyver , Ian Glass , Gholson J Lyon , James R Lupski

Shared heritability and functional enrichment across six solid cancers.

Nature communications
Avec: Xia Jiang , Hilary K Finucane , Fredrick R Schumacher , Stephanie L Schmit , Jonathan P Tyrer , Younghun Han , Kyriaki Michailidou , Corina Lesseur , Karoline B Kuchenbaecker , Joe Dennis , David V Conti , Graham Casey , Mia M Gaudet , Jeroen R Huyghe , Demetrius Albanes , Melinda C Aldrich , Angeline S Andrew , Irene L Andrulis , Hoda Anton-Culver , Antonis C Antoniou , Natalia N Antonenkova , Susanne M Arnold , Kristan J Aronson , Banu K Arun , Elisa V Bandera , Rosa B Barkardottir , Daniel R Barnes , Jyotsna Batra , Matthias W Beckmann , Javier Benitez , Sara Benlloch , Andrew Berchuck , Sonja I Berndt , Heike Bickeböller , Stephanie A Bien , Carl Blomqvist , Stefania Boccia , Natalia V Bogdanova , Stig E Bojesen , Manjeet K Bolla , Hiltrud Brauch , Hermann Brenner , James D Brenton , Mark N Brook , Joan Brunet , Hans Brunnström , Daniel D Buchanan , Barbara Burwinkel , Ralf Butzow , Gabriella Cadoni , Trinidad Caldés , Maria A Caligo , Ian Campbell , Peter T Campbell , Géraldine Cancel-Tassin , Lisa Cannon-Albright , Daniele Campa , Neil Caporaso , André L Carvalho , Andrew T Chan , Jenny Chang-Claude , Stephen J Chanock , Chu Chen , David C Christiani , Kathleen B M Claes , Frank Claessens , Judith Clements , J Margriet Collée , Marcia Cruz Correa , Fergus J Couch , Angela Cox , Julie M Cunningham , Cezary Cybulski , Kamila Czene , Mary B Daly , Anna deFazio , Peter Devilee , Orland Diez , Manuela Gago-Dominguez , Jenny L Donovan , Thilo Dörk , Eric J Duell , Alison M Dunning , Miriam Dwek , Diana M Eccles , Christopher K Edlund , Digna R Velez Edwards , Carolina Ellberg , D Gareth Evans , Peter A Fasching , Robert L Ferris , Triantafillos Liloglou , Jane C Figueiredo , Olivia Fletcher , Renée T Fortner , Florentia Fostira , Silvia Franceschi , Eitan Friedman , Steven J Gallinger , Patricia A Ganz , Judy Garber , José A García-Sáenz , Simon A Gayther , Graham G Giles , Andrew K Godwin , Mark S Goldberg , David E Goldgar , Ellen L Goode , Marc T Goodman , Gary Goodman , Kjell Grankvist , Mark H Greene , Henrik Gronberg , Jacek Gronwald , Pascal Guénel , Niclas Håkansson , Per Hall , Ute Hamann , Freddie C Hamdy , Robert J Hamilton , Jochen Hampe , Aage Haugen , Florian Heitz , Rolando Herrero , Peter Hillemanns , Michael Hoffmeister , Estrid Høgdall , Yun-Chul Hong , John L Hopper , Richard Houlston , Peter J Hulick , David J Hunter , David G Huntsman , Gregory Idos , Evgeny N Imyanitov , Sue Ann Ingles , Claudine Isaacs , Anna Jakubowska , Paul James , Mark A Jenkins , Mattias Johansson , Mikael Johansson , Esther M John , Amit D Joshi , Radka Kaneva , Beth Y Karlan , Linda E Kelemen , Tabea Kühl , Kay-Tee Khaw , Elza Khusnutdinova , Adam S Kibel , Lambertus A Kiemeney , Jeri Kim , Susanne K Kjaer , Julia A Knight , Manolis Kogevinas , Zsofia Kote-Jarai , Stella Koutros , Vessela N Kristensen , Jolanta Kupryjanczyk , Martin Lacko , Stephan Lam , Diether Lambrechts , Maria Teresa Landi , Philip Lazarus , Nhu D Le , Eunjung Lee , Flavio Lejbkowicz , Heinz-Josef Lenz , Goska Leslie , Jenny Lester , Douglas A Levine , Li Li , Christopher I Li , Annika Lindblom , Noralane M Lindor , Geoffrey Liu , Fotios Loupakis , Jan Lubiński , Lovise Maehle , Christiane Maier , Arto Mannermaa , Loic Le Marchand , Sara Margolin , Taymaa May , Lesley McGuffog , Alfons Meindl , Pooja Middha , Austin Miller , Roger L Milne , Robert J MacInnis , Francesmary Modugno , Marco Montagna , Victor Moreno , Kirsten B Moysich , Lorelei Mucci , Kenneth Muir , Anna Marie Mulligan , Katherine L Nathanson , David E Neal , Andrew R Ness , Susan L Neuhausen , Heli Nevanlinna , Polly A Newcomb , Lisa F Newcomb , Finn Cilius Nielsen , Liene Nikitina-Zake , Børge G Nordestgaard , Robert L Nussbaum , Kenneth Offit , Edith Olah , Ali Amin Al Olama , Olufunmilayo I Olopade , Andrew F Olshan , Håkan Olsson , Ana Osorio , Hardev Pandha , Jong Y Park , Nora Pashayan , Michael T Parsons , Tanja Pejovic , Kathryn L Penney , Wilbert H M Peters , Catherine M Phelan , Amanda I Phipps , Dijana Plaseska-Karanfilska , Miranda Pring , Darya Prokofyeva , Paolo Radice , Kari Stefansson , Susan J Ramus , Leon Raskin , Gad Rennert , Hedy S Rennert , Elizabeth J van Rensburg , Marjorie J Riggan , Harvey A Risch , Angela Risch , Monique J Roobol , Barry S Rosenstein , Mary Anne Rossing , Kim De Ruyck , Emmanouil Saloustros , Dale P Sandler , Elinor J Sawyer , Matthew B Schabath , Johanna Schleutker , Marjanka K Schmidt , V Wendy Setiawan , Hongbing Shen , Erin M Siegel , Weiva Sieh , Christian F Singer , Martha L Slattery , Karina Dalsgaard Sorensen , Melissa C Southey , Amanda B Spurdle , Janet L Stanford , Victoria L Stevens , Sebastian Stintzing , Jennifer Stone , Karin Sundfeldt , Rebecca Sutphen , Anthony J Swerdlow , Eloiza H Tajara , Catherine M Tangen , Adonina Tardon , Jack A Taylor , M Dawn Teare , Manuel R Teixeira , Mary Beth Terry , Kathryn L Terry , Stephen N Thibodeau , Mads Thomassen , Line Bjørge , Marc Tischkowitz , Amanda E Toland , Diana Torres , Paul A Townsend , Ruth C Travis , Nadine Tung , Shelley S Tworoger , Cornelia M Ulrich , Nawaid Usmani , Celine M Vachon , Els Van Nieuwenhuysen , Ana Vega , Miguel Elías Aguado-Barrera , Qin Wang , Penelope M Webb , Clarice R Weinberg , Stephanie Weinstein , Mark C Weissler , Jeffrey N Weitzel , Catharine M L West , Emily White , Alice S Whittemore , H-Erich Wichmann , Fredrik Wiklund , Robert Winqvist , Alicja Wolk , Penella Woll , Michael Woods , Anna H Wu , Xifeng Wu , Drakoulis Yannoukakos , Wei Zheng , Shanbeh Zienolddiny , Argyrios Ziogas , Kristin K Zorn , Jacqueline M Lane , Richa Saxena , Duncan Thomas , Rayjean J Hung , Brenda Diergaarde , James McKay , Ulrike Peters , Li Hsu , Montserrat García-Closas , Rosalind A Eeles , Georgia Chenevix-Trench , Paul J Brennan , Christopher A Haiman , Jacques Simard , Douglas F Easton , Stephen B Gruber , Paul D P Pharoah , Alkes L Price , Bogdan Pasaniuc , Christopher I Amos , Peter Kraft , Sara Lindström

Genome-wide association analysis suggests novel loci for Hashimoto's thyroiditis.

Journal of endocrinological investigation
Avec: L Brčić , A Barić , S Gračan , M Brekalo , D Kaličanin , I Gunjača , V Torlak Lovrić , S Tokić , M Radman , V Škrabić , A Miljković , I Kolčić , M Štefanić , L Glavaš-Obrovac , D Lessel , O Polašek , T Zemunik , M Barbalić , A Punda , V Boraska Perica

Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors.

JAMA oncology
Avec: Saud H AlDubayan , Louise C Pyle , Marija Gamulin , Tomislav Kulis , Nathanael D Moore , Amaro Taylor-Weiner , Anis A Hamid , Brendan Reardon , Bradley Wubbenhorst , Rama Godse , David J Vaughn , Linda A Jacobs , Stefanie Meien , Mislav Grgic , Zeljko Kastelan , Sarah C Markt , Scott M Damrauer , Daniel J Rader , Rachel L Kember , Jennifer T Loud , Peter A Kanetsky , Mark H Greene , Christopher J Sweeney , Christian Kubisch , Katherine L Nathanson , Eliezer M Van Allen , Douglas R Stewart , Auteur inconnu

The

Cancers
Avec: Andreia Brandão , Paula Paulo , Sofia Maia , Manuela Pinheiro , Ana Peixoto , Marta Cardoso , Maria P Silva , Catarina Santos , Rosalind A Eeles , Zsofia Kote-Jarai , Kenneth Muir , Ukgpcs Collaborators , Johanna Schleutker , Ying Wang , Nora Pashayan , Jyotsna Batra , Apcb BioResource , Henrik Grönberg , David E Neal , Børge G Nordestgaard , Catherine M Tangen , Melissa C Southey , Alicja Wolk , Demetrius Albanes , Christopher A Haiman , Ruth C Travis , Janet L Stanford , Lorelei A Mucci , Catharine M L West , Sune F Nielsen , Adam S Kibel , Olivier Cussenot , Sonja I Berndt , Stella Koutros , Karina Dalsgaard Sørensen , Cezary Cybulski , Eli Marie Grindedal , Jong Y Park , Sue A Ingles , Christiane Maier , Robert J Hamilton , Barry S Rosenstein , Ana Vega , The Impact Study Steering Committee And Collaborators , Manolis Kogevinas , Fredrik Wiklund , Kathryn L Penney , Hermann Brenner , Esther M John , Radka Kaneva , Christopher J Logothetis , Susan L Neuhausen , Kim De Ruyck , Azad Razack , Lisa F Newcomb , Canary Pass Investigators , Nawaid Usmani , Frank Claessens , Manuela Gago-Dominguez , Paul A Townsend , Monique J Roobol , The Profile Study Steering Committee , The Practical Consortium , Manuel R Teixeira

Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction.

Nature genetics
Avec: David V Conti , Burcu F Darst , Lilit C Moss , Edward J Saunders , Xin Sheng , Alisha Chou , Fredrick R Schumacher , Ali Amin Al Olama , Sara Benlloch , Tokhir Dadaev , Mark N Brook , Ali Sahimi , Thomas J Hoffmann , Atushi Takahashi , Koichi Matsuda , Yukihide Momozawa , Masashi Fujita , Kenneth Muir , Artitaya Lophatananon , Peggy Wan , Loic Le Marchand , Lynne R Wilkens , Victoria L Stevens , Susan M Gapstur , Brian D Carter , Johanna Schleutker , Teuvo L J Tammela , Csilla Sipeky , Anssi Auvinen , Graham G Giles , Melissa C Southey , Robert J MacInnis , Cezary Cybulski , Dominika Wokołorczyk , Jan Lubiński , David E Neal , Jenny L Donovan , Freddie C Hamdy , Richard M Martin , Børge G Nordestgaard , Sune F Nielsen , Maren Weischer , Stig E Bojesen , Martin Andreas Røder , Peter Iversen , Jyotsna Batra , Suzanne Chambers , Leire Moya , Lisa Horvath , Judith A Clements , Wayne Tilley , Gail P Risbridger , Henrik Gronberg , Markus Aly , Robert Szulkin , Martin Eklund , Tobias Nordström , Nora Pashayan , Alison M Dunning , Maya Ghoussaini , Ruth C Travis , Tim J Key , Elio Riboli , Jong Y Park , Thomas A Sellers , Hui-Yi Lin , Demetrius Albanes , Stephanie J Weinstein , Lorelei A Mucci , Edward Giovannucci , Sara Lindstrom , Peter Kraft , David J Hunter , Kathryn L Penney , Constance Turman , Catherine M Tangen , Phyllis J Goodman , Ian M Thompson , Robert J Hamilton , Neil E Fleshner , Antonio Finelli , Marie-Élise Parent , Janet L Stanford , Elaine A Ostrander , Milan S Geybels , Stella Koutros , Laura E Beane Freeman , Meir Stampfer , Alicja Wolk , Niclas Håkansson , Gerald L Andriole , Robert N Hoover , Mitchell J Machiela , Karina Dalsgaard Sørensen , Michael Borre , William J Blot , Wei Zheng , Edward D Yeboah , James E Mensah , Yong-Jie Lu , Hong-Wei Zhang , Ninghan Feng , Xueying Mao , Yudong Wu , Shan-Chao Zhao , Zan Sun , Stephen N Thibodeau , Shannon K McDonnell , Daniel J Schaid , Catharine M L West , Neil Burnet , Gill Barnett , Christiane Maier , Thomas Schnoeller , Manuel Luedeke , Adam S Kibel , Bettina F Drake , Olivier Cussenot , Géraldine Cancel-Tassin , Florence Menegaux , Thérèse Truong , Yves Akoli Koudou , Esther M John , Eli Marie Grindedal , Lovise Maehle , Kay-Tee Khaw , Sue A Ingles , Mariana C Stern , Ana Vega , Antonio Gómez-Caamaño , Laura Fachal , Barry S Rosenstein , Sarah L Kerns , Harry Ostrer , Manuel R Teixeira , Paula Paulo , Andreia Brandão , Stephen Watya , Alexander Lubwama , Jeannette T Bensen , Elizabeth T H Fontham , James Mohler , Jack A Taylor , Manolis Kogevinas , Javier Llorca , Gemma Castaño-Vinyals , Lisa Cannon-Albright , Craig C Teerlink , Chad D Huff , Sara S Strom , Luc Multigner , Pascal Blanchet , Laurent Brureau , Radka Kaneva , Chavdar Slavov , Vanio Mitev , Robin J Leach , Brandi Weaver , Hermann Brenner , Katarina Cuk , Bernd Holleczek , Kai-Uwe Saum , Eric A Klein , Ann W Hsing , Rick A Kittles , Adam B Murphy , Christopher J Logothetis , Jeri Kim , Susan L Neuhausen , Linda Steele , Yuan Chun Ding , William B Isaacs , Barbara Nemesure , Anselm J M Hennis , John Carpten , Hardev Pandha , Agnieszka Michael , Kim De Ruyck , Gert De Meerleer , Piet Ost , Jianfeng Xu , Azad Razack , Jasmine Lim , Soo-Hwang Teo , Lisa F Newcomb , Daniel W Lin , Jay H Fowke , Christine Neslund-Dudas , Benjamin A Rybicki , Marija Gamulin , Tomislav Kulis , Nawaid Usmani , Sandeep Singhal , Matthew Parliament , Frank Claessens , Steven Joniau , Thomas Van den Broeck , Manuela Gago-Dominguez , Jose Esteban Castelao , Maria Elena Martinez , Samantha Larkin , Paul A Townsend , Claire Aukim-Hastie , William S Bush , Melinda C Aldrich , Dana C Crawford , Shiv Srivastava , Jennifer C Cullen , Gyorgy Petrovics , Graham Casey , Monique J Roobol , Guido Jenster , Ron H N van Schaik , Jennifer J Hu , Maureen Sanderson , Rohit Varma , Roberta McKean-Cowdin , Mina Torres , Nicholas Mancuso , Sonja I Berndt , Stephen K Van Den Eeden , Douglas F Easton , Stephen J Chanock , Michael B Cook , Fredrik Wiklund , Hidewaki Nakagawa , John S Witte , Rosalind A Eeles , Zsofia Kote-Jarai , Christopher A Haiman

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.

Neurogenetics
Avec: Katja Kloth , Bernarda Lozic , Julia Tagoe , Mariëtte J V Hoffer , Amelie Van der Ven , Holger Thiele , Janine Altmüller , Christian Kubisch , Ping Yee Billie Au , Jonas Denecke , Emilia K Bijlsma ,

Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants.

Nature genetics
Avec: Anqi Wang , Jiayi Shen , Alex A Rodriguez , Edward J Saunders , Fei Chen , Rohini Janivara , Burcu F Darst , Xin Sheng , Yili Xu , Alisha J Chou , Sara Benlloch , Tokhir Dadaev , Mark N Brook , Anna Plym , Ali Sahimi , Thomas J Hoffman , Atushi Takahashi , Koichi Matsuda , Yukihide Momozawa , Masashi Fujita , Triin Laisk , Jéssica Figuerêdo , Kenneth Muir , Shuji Ito , Xiaoxi Liu , Auteur inconnu , Yuji Uchio , Michiaki Kubo , Yoichiro Kamatani , Artitaya Lophatananon , Peggy Wan , Caroline Andrews , Adriana Lori , Parichoy P Choudhury , Johanna Schleutker , Teuvo L J Tammela , Csilla Sipeky , Anssi Auvinen , Graham G Giles , Melissa C Southey , Robert J MacInnis , Cezary Cybulski , Dominika Wokolorczyk , Jan Lubinski , Christopher T Rentsch , Kelly Cho , Benjamin H Mcmahon , David E Neal , Jenny L Donovan , Freddie C Hamdy , Richard M Martin , Borge G Nordestgaard , Sune F Nielsen , Maren Weischer , Stig E Bojesen , Andreas Røder , Hein V Stroomberg , Jyotsna Batra , Suzanne Chambers , Lisa Horvath , Judith A Clements , Wayne Tilly , Gail P Risbridger , Henrik Gronberg , Markus Aly , Robert Szulkin , Martin Eklund , Tobias Nordstrom , Nora Pashayan , Alison M Dunning , Maya Ghoussaini , Ruth C Travis , Tim J Key , Elio Riboli , Jong Y Park , Thomas A Sellers , Hui-Yi Lin , Demetrius Albanes , Stephanie Weinstein , Michael B Cook , Lorelei A Mucci , Edward Giovannucci , Sara Lindstrom , Peter Kraft , David J Hunter , Kathryn L Penney , Constance Turman , Catherine M Tangen , Phyllis J Goodman , Ian M Thompson , Robert J Hamilton , Neil E Fleshner , Antonio Finelli , Marie-Élise Parent , Janet L Stanford , Elaine A Ostrander , Stella Koutros , Laura E Beane Freeman , Meir Stampfer , Alicja Wolk , Niclas Håkansson , Gerald L Andriole , Robert N Hoover , Mitchell J Machiela , Karina Dalsgaard Sørensen , Michael Borre , William J Blot , Wei Zheng , Edward D Yeboah , James E Mensah , Yong-Jie Lu , Hong-Wei Zhang , Ninghan Feng , Xueying Mao , Yudong Wu , Shan-Chao Zhao , Zan Sun , Stephen N Thibodeau , Shannon K McDonnell , Daniel J Schaid , Catharine M L West , Gill Barnett , Christiane Maier , Thomas Schnoeller , Manuel Luedeke , Adam S Kibel , Bettina F Drake , Olivier Cussenot , Geraldine Cancel-Tassin , Florence Menegaux , Thérèse Truong , Yves Akoli Koudou , Esther M John , Eli Marie Grindedal , Lovise Maehle , Kay-Tee Khaw , Sue A Ingles , Mariana C Stern , Ana Vega , Antonio Gómez-Caamaño , Laura Fachal , Barry S Rosenstein , Sarah L Kerns , Harry Ostrer , Manuel R Teixeira , Paula Paulo , Andreia Brandão , Stephen Watya , Alexander Lubwama , Jeannette T Bensen , Ebonee N Butler , James L Mohler , Jack A Taylor , Manolis Kogevinas , Trinidad Dierssen-Sotos , Gemma Castaño-Vinyals , Lisa Cannon-Albright , Craig C Teerlink , Chad D Huff , Patrick Pilie , Yao Yu , Ryan J Bohlender , Jian Gu , Sara S Strom , Luc Multigner , Pascal Blanchet , Laurent Brureau , Radka Kaneva , Chavdar Slavov , Vanio Mitev , Robin J Leach , Hermann Brenner , Xuechen Chen , Bernd Holleczek , Ben Schöttker , Eric A Klein , Ann W Hsing , Rick A Kittles , Adam B Murphy , Christopher J Logothetis , Jeri Kim , Susan L Neuhausen , Linda Steele , Yuan Chun Ding , William B Isaacs , Barbara Nemesure , Anselm J M Hennis , John Carpten , Hardev Pandha , Agnieszka Michael , Kim De Ruyck , Gert De Meerleer , Piet Ost , Jianfeng Xu , Azad Razack , Jasmine Lim , Soo-Hwang Teo , Lisa F Newcomb , Daniel W Lin , Jay H Fowke , Christine M Neslund-Dudas , Benjamin A Rybicki , Marija Gamulin , Tomislav Kulis , Nawaid Usmani , Aswin Abraham , Sandeep Singhal , Matthew Parliament , Frank Claessens , Steven Joniau , Thomas Van den Broeck , Manuela Gago-Dominguez , Jose Esteban Castelao , Maria Elena Martinez , Samantha Larkin , Paul A Townsend , Claire Aukim-Hastie , William S Bush , Melinda C Aldrich , Dana C Crawford , Shiv Srivastava , Jennifer Cullen , Gyorgy Petrovics , Graham Casey , Ying Wang , Yao Tettey , Joseph Lachance , Wei Tang , Richard B Biritwum , Andrew A Adjei , Evelyn Tay , Ann Truelove , Shelley Niwa , Kosj Yamoah , Koveela Govindasami , Anand P Chokkalingam , Jacob M Keaton , Jacklyn N Hellwege , Peter E Clark , Mohamed Jalloh , Serigne M Gueye , Lamine Niang , Olufemi Ogunbiyi , Olayiwola Shittu , Olukemi Amodu , Akindele O Adebiyi , Oseremen I Aisuodionoe-Shadrach , Hafees O Ajibola , Mustapha A Jamda , Olabode P Oluwole , Maxwell Nwegbu , Ben Adusei , Sunny Mante , Afua Darkwa-Abrahams , Halimatou Diop , Susan M Gundell , Monique J Roobol , Guido Jenster , Ron H N van Schaik , Jennifer J Hu , Maureen Sanderson , Linda Kachuri , Rohit Varma , Roberta McKean-Cowdin , Mina Torres , Michael H Preuss , Ruth J F Loos , Matthew Zawistowski , Sebastian Zöllner , Zeyun Lu , Stephen K Van Den Eeden , Douglas F Easton , Stefan Ambs , Todd L Edwards , Reedik Mägi , Timothy R Rebbeck , Lars Fritsche , Stephen J Chanock , Sonja I Berndt , Fredrik Wiklund , Hidewaki Nakagawa , John S Witte , J Michael Gaziano , Amy C Justice , Nick Mancuso , Chikashi Terao , Rosalind A Eeles , Zsofia Kote-Jarai , Ravi K Madduri , David V Conti , Christopher A Haiman

Comprehensive Clinical and Genetic Analysis of

Genes
Avec: Kira Kirchner , Marija Gamulin , Tomislav Kulis , Bianca Sievers , Zeljko Kastelan ,

Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability.

Biochemical Society transactions
Avec: Dominique Weil , Amélie Piton , Nancy Standart

Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.

Human genetics
Avec: Ivana Lessel , Mei-Jan Chen , Sabine Lüttgen , Florian Arndt , Sigrid Fuchs , Stefanie Meien , Holger Thiele , Julie R Jones , Brandon R Shaw , David K Crossman , Peter Nürnberg , Bruce R Korf , Christian Kubisch ,

SPRTN protease and checkpoint kinase 1 cross-activation loop safeguards DNA replication.

Nature communications
Avec: Swagata Halder , Ignacio Torrecilla , Martin D Burkhalter , Marta Popović , John Fielden , Bruno Vaz , Judith Oehler , Domenic Pilger , Katherine Wiseman , Abhay Narayan Singh , Iolanda Vendrell , Roman Fischer , Melanie Philipp , Kristijan Ramadan

Circulating Metabolic Biomarkers of Screen-Detected Prostate Cancer in the ProtecT Study.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
Avec: Charleen D Adams , Rebecca Richmond , Diana L Santos Ferreira , Wes Spiller , Vanessa Tan , Jie Zheng , Peter Würtz , Jenny Donovan , Freddie Hamdy , David Neal , J Athene Lane , George Davey Smith , Caroline Relton , Rosalind A Eeles , Christopher A Haiman , ZSofia Kote-Jarai , Fredrick R Schumacher , Ali Amin Al Olama , Sara Benlloch , Kenneth Muir , Sonja I Berndt , David V Conti , Fredrik Wiklund , Stephen J Chanock , Susan Gapstur , Victoria L Stevens , Catherine M Tangen , Jyotsna Batra , Judith A Clements , Henrik Gronberg , Nora Pashayan , Johanna Schleutker , Demetrius Albanes , Alicja Wolk , Catharine M L West , Lorelei A Mucci , Géraldine Cancel-Tassin , Stella Koutros , Karina Dalsgaard Sorensen , Lovise Maehle , Ruth C Travis , Robert J Hamilton , Sue Ann Ingles , Barry S Rosenstein , Yong-Jie Lu , Graham G Giles , Adam S Kibel , Ana Vega , Manolis Kogevinas , Kathryn L Penney , Jong Y Park , Janet L Stanford , Cezary Cybulski , Børge G Nordestgaard , Hermann Brenner , Christiane Maier , Jeri Kim , Esther M John , Manuel R Teixeira , Susan L Neuhausen , Kim De Ruyck , Azad Razack , Lisa F Newcomb , Radka P Kaneva , Nawaid Usmani , Frank Claessens , Paul A Townsend , Manuela Gago Dominguez , Monique J Roobol , Florence Menegaux , Kay-Tee Khaw , Lisa A Cannon-Albright , Hardev Pandha , Stephen N Thibodeau , Richard M Martin , Auteur inconnu

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.

Nature communications
Avec: Sahar Elouej , Karim Harhouri , Morgane Le Mao , Genevieve Baujat , Sheela Nampoothiri , Hϋlya Kayserili , Nihal Al Menabawy , Laila Selim , Arianne Llamos Paneque , Christian Kubisch , Robert Rubinsztajn , Chayki Charar , Catherine Bartoli , Coraline Airault , Jean-François Deleuze , Agnes Rötig , Peter Bauer , Catarina Pereira , Abigail Loh , Nathalie Escande-Beillard , Antoine Muchir , Lisa Martino , Yosef Gruenbaum , Song-Hua Lee , Philippe Manivet , Guy Lenaers , Bruno Reversade , Nicolas Lévy , Annachiara De Sandre-Giovannoli

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

Genome medicine
Avec: Ilaria Mannucci , Nghi D P Dang , Hannes Huber , Jaclyn B Murry , Jeff Abramson , Thorsten Althoff , Siddharth Banka , Gareth Baynam , David Bearden , Ana Beleza-Meireles , Paul J Benke , Siren Berland , Tatjana Bierhals , Frederic Bilan , Laurence A Bindoff , Geir Julius Braathen , Øyvind L Busk , Jirat Chenbhanich , Jonas Denecke , Luis F Escobar , Caroline Estes , Julie Fleischer , Daniel Groepper , Charlotte A Haaxma , Maja Hempel , Yolanda Holler-Managan , Gunnar Houge , Adam Jackson , Laura Kellogg , Boris Keren , Catherine Kiraly-Borri , Cornelia Kraus , Christian Kubisch , Gwenael Le Guyader , Ulf W Ljungblad , Leslie Manace Brenman , Julian A Martinez-Agosto , Matthew Might , David T Miller , Kelly Q Minks , Billur Moghaddam , Caroline Nava , Stanley F Nelson , John M Parant , Trine Prescott , Farrah Rajabi , Hanitra Randrianaivo , Simone F Reiter , Janneke Schuurs-Hoeijmakers , Perry B Shieh , Anne Slavotinek , Sarah Smithson , Alexander P A Stegmann , Kinga Tomczak , Kristian Tveten , Jun Wang , Jordan H Whitlock , Christiane Zweier , Kirsty McWalter , Jane Juusola , Fabiola Quintero-Rivera , Utz Fischer , Nan Cher Yeo , Hans-Jürgen Kreienkamp ,

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.

Clinical genetics
Avec: Amelie T van der Ven , Jessika Johannsen , Fanny Kortüm , Matias Wagner , Konstantinos Tsiakas , Tatjana Bierhals , Theresia Herget , Katja Kloth , Jasmin Lisfeld , Tasja Scholz , Nadia Obi , Saskia Wortmann , Holger Prokisch , Christian Kubisch , Jonas Denecke , René Santer , Maja Hempel

Identification of 22 susceptibility loci associated with testicular germ cell tumors.

Nature communications
Avec: John Pluta , Louise C Pyle , Kevin T Nead , Rona Wilf , Mingyao Li , Nandita Mitra , Benita Weathers , Kurt D'Andrea , Kristian Almstrup , Lynn Anson-Cartwright , Javier Benitez , Christopher D Brown , Stephen Chanock , Chu Chen , Victoria K Cortessis , Alberto Ferlin , Carlo Foresta , Marija Gamulin , Jourik A Gietema , Chiara Grasso , Mark H Greene , Tom Grotmol , Robert J Hamilton , Trine B Haugen , Russ Hauser , Michelle A T Hildebrandt , Matthew E Johnson , Robert Karlsson , Lambertus A Kiemeney , Ragnhild A Lothe , Jennifer T Loud , Chey Loveday , Paloma Martin-Gimeno , Coby Meijer , Jérémie Nsengimana , David I Quinn , Thorunn Rafnar , Shweta Ramdas , Lorenzo Richiardi , Rolf I Skotheim , Kari Stefansson , Clare Turnbull , David J Vaughn , Fredrik Wiklund , Xifeng Wu , Daphne Yang , Tongzhang Zheng , Andrew D Wells , Struan F A Grant , Ewa Rajpert-De Meyts , Stephen M Schwartz , D Timothy Bishop , Katherine A McGlynn , Peter A Kanetsky , Katherine L Nathanson , Auteur inconnu

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.

Human genetics
Avec: Hans-Jürgen Kreienkamp , Matias Wagner , Heike Weigand , Allyn McConkie-Rossell , Marie McDonald , Boris Keren , Cyril Mignot , Julie Gauthier , Jean-François Soucy , Jacques L Michaud , Meghan Dumas , Rosemarie Smith , Ulrike Löbel , Maja Hempel , Christian Kubisch , Jonas Denecke , Philippe M Campeau , Jennifer M Bain ,

Brain Abnormalities in Patients with Germline Variants in

AJNR. American journal of neuroradiology
Avec: C A P F Alves , O Sherbini , F D'Arco , D Steel , M A Kurian , F C Radio , G B Ferrero , D Carli , M Tartaglia , T B Balci , N N Powell-Hamilton , S A Schrier Vergano , H Reutter , J Hoefele , R Günthner , E R Roeder , R O Littlejohn , D Lessel , S Lüttgen , C Kentros , K Anyane-Yeboa , C B Catarino , S Mercimek-Andrews , J Denecke , M J Lyons , T Klopstock , E J Bhoj , L Bryant , A Vanderver

Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration.

Cell
Avec: Sima Khazaei , Carol C L Chen , Augusto Faria Andrade , Nisha Kabir , Pariya Azarafshar , Shahir M Morcos , Josiane Alves França , Mariana Lopes , Peder J Lund , Geoffroy Danieau , Samantha Worme , Lata Adnani , Nadine Nzirorera , Xiao Chen , Gayathri Yogarajah , Caterina Russo , Michele Zeinieh , Cassandra J Wong , Laura Bryant , Steven Hébert , Bethany Tong , Tianna S Sihota , Damien Faury , Evan Puligandla , Wajih Jawhar , Veronica Sandy , Mitra Cowan , Emily M Nakada , Loydie A Jerome-Majewska , Benjamin Ellezam , Carolina Cavalieri Gomes , Jonas Denecke , Marie T McDonald , Carolyn E Pizoli , Kathryn Taylor , Benjamin T Cocanougher , Elizabeth J Bhoj , Anne-Claude Gingras , Benjamin A Garcia , Chao Lu , Eric I Campos , Claudia L Kleinman , Livia Garzia , Nada Jabado

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.

American journal of human genetics
Avec: Paulien Terhal , Anton J Venhuizen , Wen-Hann Tan , Abdulrahman Alswaid , Regina Grün , Hamad I Alzaidan , Simon von Kroge , Nada Ragab , Maja Hempel , Christian Kubisch , Eduardo Novais , Alba Cristobal , Kornelia Tripolszki , Peter Bauer , Björn Fischer-Zirnsak , Rutger A J Nievelstein , Atty van Dijk , Peter Nikkels , Ralf Oheim , Heidi Hahn , Aida Bertoli-Avella , Madelon M Maurice , Uwe Kornak

Further Association of Germline

Journal of clinical medicine
Avec: Kira Kirchner , Christoph Seidel , Finn-Ole Paulsen , Bianca Sievers , Carsten Bokemeyer ,

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Laura Castilla-Vallmanya , Kaja K Selmer , Clémantine Dimartino , Raquel Rabionet , Bernardo Blanco-Sánchez , Sandra Yang , Margot R F Reijnders , Antonie J van Essen , Myriam Oufadem , Magnus D Vigeland , Barbro Stadheim , Gunnar Houge , Helen Cox , Helen Kingston , Jill Clayton-Smith , Jeffrey W Innis , Maria Iascone , Anna Cereda , Sara Gabbiadini , Wendy K Chung , Victoria Sanders , Joel Charrow , Emily Bryant , John Millichap , Antonio Vitobello , Christel Thauvin , Frederic Tran Mau-Them , Laurence Faivre , Gaetan Lesca , Audrey Labalme , Christelle Rougeot , Nicolas Chatron , Damien Sanlaville , Katherine M Christensen , Amelia Kirby , Raymond Lewandowski , Rachel Gannaway , Maha Aly , Anna Lehman , Lorne Clarke , Luitgard Graul-Neumann , Christiane Zweier , Bernarda Lozic , Ingvild Aukrust , Ryan Peretz , Robert Stratton , Thomas Smol , Anne Dieux-Coëslier , Joanna Meira , Elizabeth Wohler , Nara Sobreira , Erin M Beaver , Jennifer Heeley , Lauren C Briere , Frances A High , David A Sweetser , Melissa A Walker , Catherine E Keegan , Parul Jayakar , Marwan Shinawi , Wilhelmina S Kerstjens-Frederikse , Dawn L Earl , Victoria M Siu , Emma Reesor , Tony Yao , Robert A Hegele , Olena M Vaske , Shannon Rego , Auteur inconnu , Kevin A Shapiro , Brian Wong , Michael J Gambello , Marie McDonald , Danielle Karlowicz , Roberto Colombo , Alessandro Serretti , Lynn Pais , Anne O'Donnell-Luria , Alison Wray , Simon Sadedin , Belinda Chong , Tiong Y Tan , John Christodoulou , Susan M White , Anne Slavotinek , Deborah Barbouth , Dayna Morel Swols , Mélanie Parisot , Christine Bole-Feysot , Patrick Nitschké , Véronique Pingault , Arnold Munnich , Megan T Cho , Valérie Cormier-Daire , Susanna Balcells , Stanislas Lyonnet , Daniel Grinberg , Jeanne Amiel , Roser Urreizti , Christopher T Gordon

Exome Sequencing in Children.

Deutsches Arzteblatt international
Avec: Elisa A Mahler , Jessika Johannsen , Konstantinos Tsiakas , Katja Kloth , Sabine Lüttgen , Chris Mühlhausen , Bader Alhaddad , Tobias B Haack , Tim M Strom , Fanny Kortüm , Thomas Meitinger , Ania C Muntau , René Santer , Christian Kubisch , Jonas Denecke , Maja Hempel

Fatal Myelotoxicity Following Palliative Chemotherapy With Cisplatin and Gemcitabine in a Patient With Stage IV Cholangiocarcinoma Linked to Post Mortem Diagnosis of Fanconi Anemia.

Frontiers in oncology
Avec: Nils W Engel , Simon Schliffke , Ulrich Schüller , Christian Frenzel , Carsten Bokemeyer , Christian Kubisch ,

Author Correction: Germline variation at 8q24 and prostate cancer risk in men of European ancestry.

Nature communications
Avec: Marco Matejcic , Edward J Saunders , Tokhir Dadaev , Mark N Brook , Kan Wang , Xin Sheng , Ali Amin Al Olama , Fredrick R Schumacher , Sue A Ingles , Koveela Govindasami , Sara Benlloch , Sonja I Berndt , Demetrius Albanes , Stella Koutros , Kenneth Muir , Victoria L Stevens , Susan M Gapstur , Catherine M Tangen , Jyotsna Batra , Judith Clements , Henrik Gronberg , Nora Pashayan , Johanna Schleutker , Alicja Wolk , Catharine West , Lorelei Mucci , Peter Kraft , Géraldine Cancel-Tassin , Karina D Sorensen , Lovise Maehle , Eli M Grindedal , Sara S Strom , David E Neal , Freddie C Hamdy , Jenny L Donovan , Ruth C Travis , Robert J Hamilton , Barry Rosenstein , Yong-Jie Lu , Graham G Giles , Adam S Kibel , Ana Vega , Jeanette T Bensen , Manolis Kogevinas , Kathryn L Penney , Jong Y Park , Janet L Stanford , Cezary Cybulski , Børge G Nordestgaard , Hermann Brenner , Christiane Maier , Jeri Kim , Manuel R Teixeira , Susan L Neuhausen , Kim De Ruyck , Azad Razack , Lisa F Newcomb , Radka Kaneva , Nawaid Usmani , Frank Claessens , Paul A Townsend , Manuela Gago-Dominguez , Monique J Roobol , Florence Menegaux , Kay-Tee Khaw , Lisa A Cannon-Albright , Hardev Pandha , Stephen N Thibodeau , Daniel J Schaid , Auteur inconnu , Fredrik Wiklund , Stephen J Chanock , Douglas F Easton , Rosalind A Eeles , Zsofia Kote-Jarai , David V Conti , Christopher A Haiman

Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

Nature genetics
Avec: Fredrick R Schumacher , Ali Amin Al Olama , Sonja I Berndt , Sara Benlloch , Mahbubl Ahmed , Edward J Saunders , Tokhir Dadaev , Daniel Leongamornlert , Ezequiel Anokian , Clara Cieza-Borrella , Chee Goh , Mark N Brook , Xin Sheng , Laura Fachal , Joe Dennis , Jonathan Tyrer , Kenneth Muir , Artitaya Lophatananon , Victoria L Stevens , Susan M Gapstur , Brian D Carter , Catherine M Tangen , Phyllis J Goodman , Ian M Thompson , Jyotsna Batra , Suzanne Chambers , Leire Moya , Judith Clements , Lisa Horvath , Wayne Tilley , Gail P Risbridger , Henrik Gronberg , Markus Aly , Tobias Nordström , Paul Pharoah , Nora Pashayan , Johanna Schleutker , Teuvo L J Tammela , Csilla Sipeky , Anssi Auvinen , Demetrius Albanes , Stephanie Weinstein , Alicja Wolk , Niclas Håkansson , Catharine M L West , Alison M Dunning , Neil Burnet , Lorelei A Mucci , Edward Giovannucci , Gerald L Andriole , Olivier Cussenot , Géraldine Cancel-Tassin , Stella Koutros , Laura E Beane Freeman , Karina Dalsgaard Sorensen , Torben Falck Orntoft , Michael Borre , Lovise Maehle , Eli Marie Grindedal , David E Neal , Jenny L Donovan , Freddie C Hamdy , Richard M Martin , Ruth C Travis , Tim J Key , Robert J Hamilton , Neil E Fleshner , Antonio Finelli , Sue Ann Ingles , Mariana C Stern , Barry S Rosenstein , Sarah L Kerns , Harry Ostrer , Yong-Jie Lu , Hong-Wei Zhang , Ninghan Feng , Xueying Mao , Xin Guo , Guomin Wang , Zan Sun , Graham G Giles , Melissa C Southey , Robert J MacInnis , Liesel M FitzGerald , Adam S Kibel , Bettina F Drake , Ana Vega , Antonio Gómez-Caamaño , Robert Szulkin , Martin Eklund , Manolis Kogevinas , Javier Llorca , Gemma Castaño-Vinyals , Kathryn L Penney , Meir Stampfer , Jong Y Park , Thomas A Sellers , Hui-Yi Lin , Janet L Stanford , Cezary Cybulski , Dominika Wokolorczyk , Jan Lubinski , Elaine A Ostrander , Milan S Geybels , Børge G Nordestgaard , Sune F Nielsen , Maren Weischer , Rasmus Bisbjerg , Martin Andreas Røder , Peter Iversen , Hermann Brenner , Katarina Cuk , Bernd Holleczek , Christiane Maier , Manuel Luedeke , Thomas Schnoeller , Jeri Kim , Christopher J Logothetis , Esther M John , Manuel R Teixeira , Paula Paulo , Marta Cardoso , Susan L Neuhausen , Linda Steele , Yuan Chun Ding , Kim De Ruyck , Gert De Meerleer , Piet Ost , Azad Razack , Jasmine Lim , Soo-Hwang Teo , Daniel W Lin , Lisa F Newcomb , Marija Gamulin , Tomislav Kulis , Radka Kaneva , Nawaid Usmani , Sandeep Singhal , Chavdar Slavov , Vanio Mitev , Matthew Parliament , Frank Claessens , Steven Joniau , Thomas Van den Broeck , Samantha Larkin , Paul A Townsend , Claire Aukim-Hastie , Manuela Gago-Dominguez , Jose Esteban Castelao , Maria Elena Martinez , Monique J Roobol , Guido Jenster , Ron H N van Schaik , Florence Menegaux , Thérèse Truong , Yves Akoli Koudou , Jianfeng Xu , Kay-Tee Khaw , Lisa Cannon-Albright , Hardev Pandha , Agnieszka Michael , Stephen N Thibodeau , Shannon K McDonnell , Daniel J Schaid , Sara Lindstrom , Constance Turman , Jing Ma , David J Hunter , Elio Riboli , Afshan Siddiq , Federico Canzian , Laurence N Kolonel , Loic Le Marchand , Robert N Hoover , Mitchell J Machiela , Zuxi Cui , Peter Kraft , Christopher I Amos , David V Conti , Douglas F Easton , Fredrik Wiklund , Stephen J Chanock , Brian E Henderson , Zsofia Kote-Jarai , Christopher A Haiman , Rosalind A Eeles , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies.

American journal of medical genetics. Part A
Avec: Katrin Rading , Susan E Campbell , Holger Thiele , Janine Altmüller , Leslie B Gordon , Christian Kubisch

Histone H3.3 beyond cancer: Germline mutations in

Science advances
Avec: Laura Bryant , Dong Li , Samuel G Cox , Dylan Marchione , Evan F Joiner , Khadija Wilson , Kevin Janssen , Pearl Lee , Michael E March , Divya Nair , Elliott Sherr , Brieana Fregeau , Klaas J Wierenga , Alexandrea Wadley , Grazia M S Mancini , Nina Powell-Hamilton , Jiddeke van de Kamp , Theresa Grebe , John Dean , Alison Ross , Heather P Crawford , Zoe Powis , Megan T Cho , Marcia C Willing , Linda Manwaring , Rachel Schot , Caroline Nava , Alexandra Afenjar , Matias Wagner , Thomas Klopstock , Juliane Winkelmann , Claudia B Catarino , Kyle Retterer , Jane L Schuette , Jeffrey W Innis , Amy Pizzino , Sabine Lüttgen , Jonas Denecke , Tim M Strom , Kristin G Monaghan , Auteur inconnu , Zuo-Fei Yuan , Holly Dubbs , Renee Bend , Jennifer A Lee , Michael J Lyons , Julia Hoefele , Roman Günthner , Heiko Reutter , Boris Keren , Kelly Radtke , Omar Sherbini , Cameron Mrokse , Katherine L Helbig , Sylvie Odent , Benjamin Cogne , Sandra Mercier , Stephane Bezieau , Thomas Besnard , Sebastien Kury , Richard Redon , Karit Reinson , Monica H Wojcik , Katrin Õunap , Pilvi Ilves , A Micheil Innes , Kristin D Kernohan , Auteur inconnu , Gregory Costain , M Stephen Meyn , David Chitayat , Elaine Zackai , Anna Lehman , Hilary Kitson , Auteur inconnu , Martin G Martin , Julian A Martinez-Agosto , Auteur inconnu , Stan F Nelson , Christina G S Palmer , Jeanette C Papp , Neil H Parker , Janet S Sinsheimer , Eric Vilain , Jijun Wan , Amanda J Yoon , Allison Zheng , Elise Brimble , Giovanni Battista Ferrero , Francesca Clementina Radio , Diana Carli , Sabina Barresi , Alfredo Brusco , Marco Tartaglia , Jennifer Muncy Thomas , Luis Umana , Marjan M Weiss , Garrett Gotway , K E Stuurman , Michelle L Thompson , Kirsty McWalter , Constance T R M Stumpel , Servi J C Stevens , Alexander P A Stegmann , Kristian Tveten , Arve Vøllo , Trine Prescott , Christina Fagerberg , Lone Walentin Laulund , Martin J Larsen , Melissa Byler , Robert Roger Lebel , Anna C Hurst , Joy Dean , Samantha A Schrier Vergano , Jennifer Norman , Saadet Mercimek-Andrews , Juanita Neira , Margot I Van Allen , Nicola Longo , Elizabeth Sellars , Raymond J Louie , Sara S Cathey , Elly Brokamp , Delphine Heron , Molly Snyder , Adeline Vanderver , Celeste Simon , Xavier de la Cruz , Natália Padilla , J Gage Crump , Wendy Chung , Benjamin Garcia , Hakon H Hakonarson , Elizabeth J Bhoj

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Genome medicine
Avec: Madelyn A Gillentine , Tianyun Wang , Kendra Hoekzema , Jill Rosenfeld , Pengfei Liu , Hui Guo , Chang N Kim , Bert B A De Vries , Lisenka E L M Vissers , Magnus Nordenskjold , Malin Kvarnung , Anna Lindstrand , Ann Nordgren , Jozef Gecz , Maria Iascone , Anna Cereda , Agnese Scatigno , Silvia Maitz , Ginevra Zanni , Enrico Bertini , Christiane Zweier , Sarah Schuhmann , Antje Wiesener , Micah Pepper , Heena Panjwani , Erin Torti , Farida Abid , Irina Anselm , Siddharth Srivastava , Paldeep Atwal , Carlos A Bacino , Gifty Bhat , Katherine Cobian , Lynne M Bird , Jennifer Friedman , Meredith S Wright , Bert Callewaert , Florence Petit , Sophie Mathieu , Alexandra Afenjar , Celenie K Christensen , Kerry M White , Orly Elpeleg , Itai Berger , Edward J Espineli , Christina Fagerberg , Charlotte Brasch-Andersen , Lars Kjærsgaard Hansen , Timothy Feyma , Susan Hughes , Isabelle Thiffault , Bonnie Sullivan , Shuang Yan , Kory Keller , Boris Keren , Cyril Mignot , Frank Kooy , Marije Meuwissen , Alice Basinger , Mary Kukolich , Meredith Philips , Lucia Ortega , Margaret Drummond-Borg , Mathilde Lauridsen , Kristina Sorensen , Anna Lehman , Auteur inconnu , Elena Lopez-Rangel , Paul Levy , Timothy Lotze , Suneeta Madan-Khetarpal , Jessica Sebastian , Jodie Vento , Divya Vats , L Manace Benman , Shane Mckee , Ghayda M Mirzaa , Candace Muss , John Pappas , Hilde Peeters , Corrado Romano , Maurizio Elia , Ornella Galesi , Marleen E H Simon , Koen L I van Gassen , Kara Simpson , Robert Stratton , Sabeen Syed , Julien Thevenon , Irene Valenzuela Palafoll , Antonio Vitobello , Marie Bournez , Laurence Faivre , Kun Xia , Auteur inconnu , Rachel K Earl , Tomasz Nowakowski , Raphael A Bernier , Evan E Eichler

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.

American journal of human genetics
Avec: Dmitrijs Rots , Eric Chater-Diehl , Alexander J M Dingemans , Sarah J Goodman , Michelle T Siu , Cheryl Cytrynbaum , Sanaa Choufani , Ny Hoang , Susan Walker , Zain Awamleh , Joshua Charkow , Stephen Meyn , Rolph Pfundt , Tuula Rinne , Thatjana Gardeitchik , Bert B A de Vries , A Chantal Deden , Erika Leenders , Michael Kwint , Constance T R M Stumpel , Servi J C Stevens , Jeroen R Vermeulen , Jeske V T van Harssel , Danielle G M Bosch , Koen L I van Gassen , Ellen van Binsbergen , Christa M de Geus , Hein Brackel , Maja Hempel , Jonas Denecke , Anne Slavotinek , Jonathan Strober , Amy Crunk , Leandra Folk , Ingrid M Wentzensen , Hui Yang , Fanggeng Zou , Francisca Millan , Richard Person , Yili Xie , Shuxi Liu , Lilian B Ousager , Martin Larsen , Laura Schultz-Rogers , Eva Morava , Eric W Klee , Ian R Berry , Jennifer Campbell , Kristin Lindstrom , Brianna Pruniski , Ann M Neumeyer , Jessica A Radley , Chanika Phornphutkul , Berkley Schmidt , William G Wilson , Katrin Õunap , Karit Reinson , Sander Pajusalu , Arie van Haeringen , Claudia Ruivenkamp , Roos Cuperus , Fernando Santos-Simarro , María Palomares-Bralo , Marta Pacio-Míguez , Alyssa Ritter , Elizabeth Bhoj , Elin Tønne , Kristian Tveten , Gerarda Cappuccio , Nicola Brunetti-Pierri , Leah Rowe , Jason Bunn , Margarita Saenz , Konrad Platzer , Mareike Mertens , Oana Caluseriu , Małgorzata J M Nowaczyk , Ronald D Cohn , Peter Kannu , Ebba Alkhunaizi , David Chitayat , Stephen W Scherer , Han G Brunner , Lisenka E L M Vissers , Tjitske Kleefstra , David A Koolen , Rosanna Weksberg

Aggressive variants of prostate cancer: underlying mechanisms of neuroendocrine transdifferentiation.

Journal of experimental & clinical cancer research : CR
Avec: Lina Merkens , Verena Sailer , Ella Janzen , Sarah Greimeier , Jutta Kirfel , Sven Perner , Klaus Pantel , Stefan Werner , Gunhild von Amsberg

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.

Brain : a journal of neurology
Avec: Shehrazade Dahimene , Leonie von Elsner , Tess Holling , Lauren S Mattas , Jess Pickard , Kjara S Pilch , Ivan Kadurin , Wendy S Pratt , Igor B Zhulin , Hongzheng Dai , Maja Hempel , Maura R Z Ruzhnikov , Kerstin Kutsche , Annette C Dolphin

Association Study between Polymorphisms in DNA Methylation-Related Genes and Testicular Germ Cell Tumor Risk.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
Avec: Chiara Grasso , Maja Popovic , Elena Isaevska , Fulvio Lazzarato , Valentina Fiano , Daniela Zugna , John Pluta , Benita Weathers , Kurt D'Andrea , Kristian Almstrup , Lynn Anson-Cartwright , D Timothy Bishop , Stephen J Chanock , Chu Chen , Victoria K Cortessis , Marlene D Dalgaard , Siamak Daneshmand , Alberto Ferlin , Carlo Foresta , Megan N Frone , Marija Gamulin , Jourik A Gietema , Mark H Greene , Tom Grotmol , Robert J Hamilton , Trine B Haugen , Russ Hauser , Robert Karlsson , Lambertus A Kiemeney , Patrizia Lista , Ragnhild A Lothe , Chey Loveday , Coby Meijer , Kevin T Nead , Jérémie Nsengimana , Rolf I Skotheim , Clare Turnbull , David J Vaughn , Fredrik Wiklund , Tongzhang Zheng , Andrea Zitella , Stephen M Schwartz , Katherine A McGlynn , Peter A Kanetsky , Katherine L Nathanson , Lorenzo Richiardi

A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.

American journal of medical genetics. Part A
Avec: Abdelkrim Saadi , Claire Navarro , Ozge Ozalp , Charles Marques Lourenco , Racha Fayek , Nathalie Da Silva , Athmane Chaouch , Meryem Benahmed , Christian Kubisch , Arnold Munnich , Nicolas Lévy , Patrice Roll , Lamia Ali Pacha , Malika Chaouch , Annachiara De Sandre-Giovannoli

Réseau de co-auteurs

None None 25 collaborations
Christian Kubisch 18 collaborations
Maja Hempel 14 collaborations
Jonas Denecke 13 collaborations
Robert J Hamilton 10 collaborations
Fredrik Wiklund 10 collaborations
Catherine M Tangen 9 collaborations
Alicja Wolk 9 collaborations
Manolis Kogevinas 9 collaborations
Hermann Brenner 9 collaborations
Frank Claessens 9 collaborations
Jong Y Park 9 collaborations
Jessika Johannsen 8 collaborations
Manuela Gago-Dominguez 8 collaborations
Marija Gamulin 8 collaborations
Demetrius Albanes 8 collaborations
Jyotsna Batra 8 collaborations
Sonja I Berndt 8 collaborations
Stephen J Chanock 8 collaborations
Cezary Cybulski 8 collaborations
Adam S Kibel 8 collaborations
Stella Koutros 8 collaborations
Christiane Maier 8 collaborations
Kenneth Muir 8 collaborations
Susan L Neuhausen 8 collaborations
Lisa F Newcomb 8 collaborations
Nora Pashayan 8 collaborations
Kathryn L Penney 8 collaborations
Monique J Roobol 8 collaborations
Kim De Ruyck 8 collaborations
Johanna Schleutker 8 collaborations
Janet L Stanford 8 collaborations
Manuel R Teixeira 8 collaborations
Paul A Townsend 8 collaborations
Ruth C Travis 8 collaborations
Nawaid Usmani 8 collaborations
Ana Vega 8 collaborations
Rosalind A Eeles 8 collaborations
Christopher A Haiman 8 collaborations
Tatjana Bierhals 7 collaborations
David V Conti 7 collaborations
Sara Benlloch 7 collaborations
Graham G Giles 7 collaborations
Henrik Gronberg 7 collaborations
Esther M John 7 collaborations
Radka Kaneva 7 collaborations
Kay-Tee Khaw 7 collaborations
Jeri Kim 7 collaborations
Zsofia Kote-Jarai 7 collaborations
Lovise Maehle 7 collaborations
David E Neal 7 collaborations
Børge G Nordestgaard 7 collaborations
Hardev Pandha 7 collaborations
Barry S Rosenstein 7 collaborations
Stephen N Thibodeau 7 collaborations
Catharine M L West 7 collaborations
Niclas Håkansson 6 collaborations
Fredrick R Schumacher 6 collaborations
Mark N Brook 6 collaborations
Géraldine Cancel-Tassin 6 collaborations
Jenny L Donovan 6 collaborations
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Ali Amin Al Olama 6 collaborations
Melissa C Southey 6 collaborations
Victoria L Stevens 6 collaborations
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René Santer 5 collaborations
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Shelagh Joss 3 collaborations
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