Publications
2021
Yan V.
Sun,
Chengchen
Li,
Qin
Hui,
Yunfeng
Huang,
Richard
Barbano,
Ramón
Rodríguez,
Irene A.
Malaty,
Stephen
Reich,
Kimberly
Bambarger,
Katie
Holmes,
Joseph
Jankovic,
Neepa J.
Patel,
Emmanuel
Roze,
Marie
Vidailhet,
Brian D.
Berman,
Mark S.
LeDoux,
Alberto J.
Espay,
Pinky
Agarwal,
Sarah
Pirio-Richardson,
Samuel A.
Frank,
William G.
Ondo,
Rachel
Saunders-Pullman,
Sylvain
Chouinard,
Stover
Natividad,
Alfredo
Berardelli,
Alexander Y.
Pantelyat,
Allison
Brashear,
Susan H.
Fox,
Meike
Kasten,
Ulrike M.
Krämer,
Miriam
Neis,
Tobias
Bäumer,
Sebastian
Löns,
Max
Borsche,
Simone
Zittel,
Antonia
Maurer,
Mathias
Gelderblom,
Jens
Volkmann,
Thorsten
Odorfer,
Andrea A.
Kühn,
Friederike
Borngräber,
Inke R.
König,
Carlos
Cruchaga,
Adam C.
Cotton,
Gamze
Kilic-Berkmen,
Alan
Freeman,
Stewart A.
Factor,
Laura
Scorr,
J. Douglas
Bremner,
Viola
Vaccarino,
Arshed A.
Quyyumi,
Christine
Klein,
Joel S.
Perlmutter,
Katja
Lohmann, and
Hyder A.
Jinnah,
A Multi-center Genome-wide Association Study of Cervical Dystonia, Mov Disord , vol. 36, no. 12, pp. 2795–2801, 2021.
A Multi-center Genome-wide Association Study of Cervical Dystonia, Mov Disord , vol. 36, no. 12, pp. 2795–2801, 2021.
DOI: | 10.1002/mds.28732 |
Alexander
Münchau,
Lorenza S.
Colzato,
Azam
AghajaniAfjedi, and
Christian
Beste,
A neural noise account of Gilles de la Tourette syndrome, Neuroimage Clin , vol. 30, pp. 102654, 2021.
A neural noise account of Gilles de la Tourette syndrome, Neuroimage Clin , vol. 30, pp. 102654, 2021.
DOI: | 10.1016/j.nicl.2021.102654 |
Daniela
Choukair,
Fabian
Hauck,
Markus
Bettendorf,
Heiko
Krude,
Christoph
Klein,
Tobias
Bäumer,
Reinhard
Berner,
Min Ae
Lee-Kirsch,
Corinna
Grasemann,
Peter
Burgard, and
Georg F.
Hoffmann,
An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee, Orphanet J Rare Dis , vol. 16, no. 1, pp. 474, 2021.
An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee, Orphanet J Rare Dis , vol. 16, no. 1, pp. 474, 2021.
DOI: | 10.1186/s13023-021-02092-w |
Davide
Martino,
Anette
Schrag,
Zacharias
Anastasiou,
Alan
Apter,
Noa
Benaroya-Milstein,
Maura
Buttiglione,
Francesco
Cardona,
Roberta
Creti,
Androulla
Efstratiou,
Tammy
Hedderly,
Isobel
Heyman,
Chaim
Huyser,
Marcos
Madruga,
Pablo
Mir,
Astrid
Morer,
Nanette
Mol Debes,
Natalie
Moll,
Norbert
Müller,
Kirsten
Müller-Vahl,
Alexander
Münchau,
Peter
Nagy,
Kerstin Jessica
Plessen,
Cesare
Porcelli,
Renata
Rizzo,
Veit
Roessner,
Jaana
Schnell,
Markus
Schwarz,
Liselotte
Skov,
Tamar
Steinberg,
Zsanett
Tarnok,
Susanne
Walitza,
Andrea
Dietrich,
Pieter J.
Hoekstra, and
[GROUP]
EMTICS Collaborative Group,
Association of Group A Streptococcus Exposure and Exacerbations of Chronic Tic Disorders: A Multinational Prospective Cohort Study, Neurology , vol. 96, no. 12, pp. e1680–e1693, 2021.
Association of Group A Streptococcus Exposure and Exacerbations of Chronic Tic Disorders: A Multinational Prospective Cohort Study, Neurology , vol. 96, no. 12, pp. e1680–e1693, 2021.
DOI: | 10.1212/WNL.0000000000011610 |
Ann-Kathrin
Stock,
Wiebke
Bensmann,
Nicolas
Zink,
Alexander
Münchau, and
Christian
Beste,
Automatic aspects of response selection remain unchanged during high-dose alcohol intoxication, Addict Biol , vol. 26, no. 1, pp. e12852, 2021.
Automatic aspects of response selection remain unchanged during high-dose alcohol intoxication, Addict Biol , vol. 26, no. 1, pp. e12852, 2021.
DOI: | 10.1111/adb.12852 |
Tobias
Bäumer, and
Max
Borsche,
Behandlung der Zervikalen Dystonie mit Botulinumtoxin – Schritt für Schritt, Neurol up2date , vol. 04, no. 03, pp. 227–234, 2021. Georg Thieme Verlag KG.
Behandlung der Zervikalen Dystonie mit Botulinumtoxin – Schritt für Schritt, Neurol up2date , vol. 04, no. 03, pp. 227–234, 2021. Georg Thieme Verlag KG.
DOI: | 10.1055/a-1319-3333 |
Elodie M.
Richard,
Somayeh
Bakhtiari,
Ashley P. L.
Marsh,
Rauan
Kaiyrzhanov,
Matias
Wagner,
Sheetal
Shetty,
Alex
Pagnozzi,
Sandra M.
Nordlie,
Brandon S.
Guida,
Patricia
Cornejo,
Helen
Magee,
James
Liu,
Bethany Y.
Norton,
Richard I.
Webster,
Lisa
Worgan,
Hakon
Hakonarson,
Jiankang
Li,
Yiran
Guo,
Mahim
Jain,
Alyssa
Blesson,
Lance H.
Rodan,
Mary-Alice
Abbott,
Anne
Comi,
Julie S.
Cohen,
Bader
Alhaddad,
Thomas
Meitinger,
Dominic
Lenz,
Andreas
Ziegler,
Urania
Kotzaeridou,
Theresa
Brunet,
Anna
Chassevent,
Constance
Smith-Hicks,
Joseph
Ekstein,
Tzvi
Weiden,
Andreas
Hahn,
Nazira
Zharkinbekova,
Peter
Turnpenny,
Arianna
Tucci,
Melissa
Yelton,
Rita
Horvath,
Serdal
Gungor,
Semra
Hiz,
Yavuz
Oktay,
Hanns
Lochmuller,
Marcella
Zollino,
Manuela
Morleo,
Giuseppe
Marangi,
Vincenzo
Nigro,
Annalaura
Torella,
Michele
Pinelli,
Simona
Amenta,
Ralf A.
Husain,
Benita
Grossmann,
Marion
Rapp,
Claudia
Steen,
Iris
Marquardt,
Mona
Grimmel,
Ute
Grasshoff,
G. Christoph
Korenke,
Marta
Owczarek-Lipska,
John
Neidhardt,
Francesca Clementina
Radio,
Cecilia
Mancini,
Dianela Judith
Claps Sepulveda,
Kirsty
McWalter,
Amber
Begtrup,
Amy
Crunk,
Maria J.
Guillen Sacoto,
Richard
Person,
Rhonda E.
Schnur,
Maria Margherita
Mancardi,
Florian
Kreuder,
Pasquale
Striano,
Federico
Zara,
Wendy K.
Chung,
Warren A.
Marks,
Clare L.
van Eyk,
Dani L.
Webber,
Mark A.
Corbett,
Kelly
Harper,
Jesia G.
Berry,
Alastair H.
MacLennan,
Jozef
Gecz,
Marco
Tartaglia,
Vincenzo
Salpietro,
John
Christodoulou,
Jan
Kaslin,
Sergio
Padilla-Lopez,
Kaya
Bilguvar,
Alexander
Münchau,
Zubair M.
Ahmed,
Robert B.
Hufnagel,
Michael C.
Fahey,
Reza
Maroofian,
Henry
Houlden,
Heinrich
Sticht,
Shrikant M.
Mane,
Aboulfazl
Rad,
Barbara
Vona,
Sheng Chih
Jin,
Tobias B.
Haack,
Christine
Makowski,
Yoel
Hirsch,
Saima
Riazuddin, and
Michael C.
Kruer,
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss, Am J Hum Genet , vol. 108, no. 10, pp. 2006–2016, 2021.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss, Am J Hum Genet , vol. 108, no. 10, pp. 2006–2016, 2021.
DOI: | 10.1016/j.ajhg.2021.08.003 |
Martje G.
Pauly,
Annika
Steinmeier,
Christina
Bolte,
Feline
Hamami,
Elinor
Tzvi,
Alexander
Münchau,
Tobias
Bäumer, and
Anne
Weissbach,
Cerebellar rTMS and PAS effectively induce cerebellar plasticity, Sci Rep , vol. 11, no. 1, pp. 3070, 2021.
Cerebellar rTMS and PAS effectively induce cerebellar plasticity, Sci Rep , vol. 11, no. 1, pp. 3070, 2021.
DOI: | 10.1038/s41598-021-82496-7 |
Christos
Ganos,
Harini
Sarva,
Lille
Kurvits,
Donald L.
Gilbert,
Andreas
Hartmann,
Yulia
Worbe,
Pablo
Mir,
Kirsten R.
Müller-Vahl,
Alexander
Münchau,
David
Shprecher,
Harvey S.
Singer,
Wissam
Deeb,
Michael S.
Okun,
Irene A.
Malaty,
Mark
Hallett,
Marina Aj
Tijssen,
Tamara
Pringsheim,
Davide
Martino, and
[GROUP]
Tic Disorders and Tourette Syndrome Study Group of the International Parkinson and Movement Disorder Society,
Clinical Practice Patterns in Tic Disorders Among Movement Disorder Society Members, Tremor Other Hyperkinet Mov , vol. 11, pp. 43, 2021.
Clinical Practice Patterns in Tic Disorders Among Movement Disorder Society Members, Tremor Other Hyperkinet Mov , vol. 11, pp. 43, 2021.
DOI: | 10.5334/tohm.656 |
Anne
Weissbach,
Gerard
Saranza, and
Aloysius
Domingo,
Combined dystonias: clinical and genetic updates, J Neural Transm (Vienna) , vol. 128, no. 4, pp. 417–429, 2021.
Combined dystonias: clinical and genetic updates, J Neural Transm (Vienna) , vol. 128, no. 4, pp. 417–429, 2021.
DOI: | 10.1007/s00702-020-02269-w |
Rebecca
Herzog,
Anne
Weissbach,
Tobias
Bäumer, and
Alexander
Münchau,
Complex dystonias: an update on diagnosis and care, J Neural Transm (Vienna) , vol. 128, no. 4, pp. 431–445, 2021.
Complex dystonias: an update on diagnosis and care, J Neural Transm (Vienna) , vol. 128, no. 4, pp. 431–445, 2021.
DOI: | 10.1007/s00702-020-02275-y |
Martje G.
Pauly,
Yorck
Hellenbroich,
Kathrin
Grundmann-Hauser,
Frauke
Hinrichs,
Katja
Lohmann, and
Norbert
Brüggemann,
Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia, Mov Disord Clin Pract , vol. 8, no. 6, pp. 972–976, 2021.
Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia, Mov Disord Clin Pract , vol. 8, no. 6, pp. 972–976, 2021.
DOI: | 10.1002/mdc3.13258 |
Theresa
Paulus,
Maximilian
Kleimaker, and
Alexander
Münchau,
Das Tourette-Syndrom und dessen Abgrenzung zu wichtigen Differenzialdiagnosen, PSYCH up2date , vol. 15, no. 4, pp. 321–335, 2021. Georg Thieme Verlag KG.
Das Tourette-Syndrom und dessen Abgrenzung zu wichtigen Differenzialdiagnosen, PSYCH up2date , vol. 15, no. 4, pp. 321–335, 2021. Georg Thieme Verlag KG.
DOI: | 10.1055/a-1169-3366 |
Leoni
Baumung,
Kirsten
Müller-Vahl,
Katherine
Dyke,
Georgina
Jackson,
Stephen
Jackson,
Dennis
Golm,
Alexander
Münchau, and
Valerie
Brandt,
Developing the Premonitory Urges for Tic Disorders Scale-Revised (PUTS-R), J Neuropsychol , vol. 15, no. 1, pp. 129–142, 2021.
Developing the Premonitory Urges for Tic Disorders Scale-Revised (PUTS-R), J Neuropsychol , vol. 15, no. 1, pp. 129–142, 2021.
DOI: | 10.1111/jnp.12216 |
Giovanni
Defazio,
Hyder A.
Jinnah,
Alfredo
Berardelli,
Joel S.
Perlmutter,
Gamze Kilic
Berkmen,
Brian D.
Berman,
Joseph
Jankovic,
Tobias
Bäumer,
Cynthia
Comella,
Adam C.
Cotton,
Tommaso
Ercoli,
Gina
Ferrazzano,
Susan
Fox,
Han-Joon
Kim,
Emile Sami
Moukheiber,
Sarah Pirio
Richardson,
Anne
Weissbach,
Laura J.
Wrigth, and
Mark
Hallett,
Diagnostic criteria for blepharospasm: A multicenter international study, Parkinsonism Relat Disord , vol. 91, pp. 109–114, 2021.
Diagnostic criteria for blepharospasm: A multicenter international study, Parkinsonism Relat Disord , vol. 91, pp. 109–114, 2021.
DOI: | 10.1016/j.parkreldis.2021.09.004 |
Aasef G.
Shaikh,
Sinem Balta
Beylergil,
Laura
Scorr,
Gamze
Kilic-Berkmen,
Alan
Freeman,
Christine
Klein,
Johanna
Junker,
Sebastian
Löns,
Norbert
Brüggemann,
Alexander
Münchau,
Tobias
Bäumer,
Marie
Vidailhet,
Emmanuel
Roze,
Cecilia
Bonnet,
Joseph
Jankovic,
Joohi
Jimenez-Shahed,
Neepa
Patel,
Laura
Marsh,
Cynthia
Comella,
Richard L.
Barbano,
Brian D.
Berman,
Irene
Malaty,
Aparna
Wagle Shukla,
Stephen G.
Reich,
Mark S.
LeDoux,
Alfredo
Berardelli,
Gina
Ferrazzano,
Natividad
Stover,
William
Ondo,
Sarah
Pirio Richardson,
Rachel
Saunders-Pullman,
Zoltan
Mari,
Pinky
Agarwal,
Charles
Adler,
Sylvain
Chouinard,
Susan H.
Fox,
Allison
Brashear,
Daniel
Truong,
Oksana
Suchowersky,
Samuel
Frank,
Stewart
Factor,
Joel
Perlmutter, and
Hyder Azad
Jinnah,
Dystonia and Tremor: A Cross-Sectional Study of the Dystonia Coalition Cohort, Neurology , vol. 96, no. 4, pp. e563–e574, 2021.
Dystonia and Tremor: A Cross-Sectional Study of the Dystonia Coalition Cohort, Neurology , vol. 96, no. 4, pp. e563–e574, 2021.
DOI: | 10.1212/WNL.0000000000011049 |
Marenka
Smit,
Alberto
Albanese,
Monika
Benson,
Mark J.
Edwards,
Holm
Graessner,
Michael
Hutchinson,
Robert
Jech,
Joachim K.
Krauss,
Francesca
Morgante,
Belen
Pérez Dueñas,
Richard B.
Reilly,
Michele
Tinazzi,
Maria Fiorella
Contarino,
Marina A. J.
Tijssen, and
[GROUP]
The Collaborative Working Group,
Dystonia Management: What to Expect From the Future? The Perspectives of Patients and Clinicians Within DystoniaNet Europe, Front Neurol , vol. 12, 2021.
Dystonia Management: What to Expect From the Future? The Perspectives of Patients and Clinicians Within DystoniaNet Europe, Front Neurol , vol. 12, 2021.
C.W.
Ip,
Tobias
Bäumer,
A.
Ceballos-Baumann,
C.
Klein,
J.
Müller,
M.
Naumann,
V.
Tronnier, and
J.
Volkmann,
Dystonie, S1-Leitlinie, AWMF Online , 2021.
Dystonie, S1-Leitlinie, AWMF Online , 2021.
Demy J. S.
Kuipers,
Wim
Mandemakers,
Chin-Song
Lu,
Simone
Olgiati,
Guido J.
Breedveld,
Christina
Fevga,
Vera
Tadic,
Miryam
Carecchio,
Bradley
Osterman,
Lena
Sagi-Dain,
Yah-Huei
Wu-Chou,
Chiung C.
Chen,
Hsiu-Chen
Chang,
Shey-Lin
Wu,
Tu-Hsueh
Yeh,
Yi-Hsin
Weng,
Antonio E.
Elia,
Celeste
Panteghini,
Nicolas
Marotta,
Martje G.
Pauly,
Andrea A.
Kühn,
Jens
Volkmann,
Baiba
Lace,
Inge A.
Meijer,
Krishna
Kandaswamy,
Marialuisa
Quadri,
Barbara
Garavaglia,
Katja
Lohmann,
Peter
Bauer,
Niccolò E.
Mencacci,
Steven J.
Lubbe,
Christine
Klein,
Aida M.
Bertoli-Avella, and
Vincenzo
Bonifati,
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia, Ann Neurol , vol. 89, no. 3, pp. 485–497, 2021.
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia, Ann Neurol , vol. 89, no. 3, pp. 485–497, 2021.
DOI: | 10.1002/ana.25973 |
Matthew
Halvorsen,
Jin
Szatkiewicz,
Poorva
Mudgal,
Dongmei
Yu,
[GROUP]
Psychiatric Genomics Consortium TS/OCD Working Group,
Ashley E.
Nordsletten,
David
Mataix-Cols,
Carol A.
Mathews,
Jeremiah M.
Scharf,
Manuel
Mattheisen,
Mary M.
Robertson,
Andrew
McQuillin, and
James J.
Crowley,
Elevated common variant genetic risk for tourette syndrome in a densely-affected pedigree, Mol Psychiatry , vol. 26, no. 12, pp. 7522–7529, 2021.
Elevated common variant genetic risk for tourette syndrome in a densely-affected pedigree, Mol Psychiatry , vol. 26, no. 12, pp. 7522–7529, 2021.
DOI: | 10.1038/s41380-021-01277-w |
Tamara
Schmidt,
Georg
Ebersbach,
Henriette
Oelsner,
Anette
Sprock,
Inke R.
König,
Tobias
Bäumer,
Alexander
Münchau, and
Anne
Weissbach,
Evaluation of Individualized Multi-Disciplinary Inpatient Treatment for Functional Movement Disorders, Mov Disord Clin Pract , vol. 8, no. 6, pp. 911–918, 2021.
Evaluation of Individualized Multi-Disciplinary Inpatient Treatment for Functional Movement Disorders, Mov Disord Clin Pract , vol. 8, no. 6, pp. 911–918, 2021.
DOI: | 10.1002/mdc3.13268 |
Josua
Kegele,
Johanna
Krüger,
Mahmoud
Koko,
Lara
Lange,
Ana Victoria
Marco Hernandez,
Francisco
Martinez,
Alexander
Münchau,
Holger
Lerche, and
Stephan
Lauxmann,
Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders, Front Neurol , vol. 12, pp. 701351, 2021.
Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders, Front Neurol , vol. 12, pp. 701351, 2021.
DOI: | 10.3389/fneur.2021.701351 |
Lara M.
Lange,
Johanna
Junker,
Sebastian
Löns,
Hauke
Baumann,
Luisa
Olschewski,
Susen
Schaake,
Harutyun
Madoev,
Sonja
Petkovic,
Neele
Kuhnke,
Meike
Kasten,
Ana
Westenberger,
Aloysius
Domingo,
Connie
Marras,
Inke R.
König,
Sarah
Camargos,
Laurie J.
Ozelius,
Christine
Klein, and
Katja
Lohmann,
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review, Mov Disord , vol. 36, no. 5, pp. 1086–1103, 2021.
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review, Mov Disord , vol. 36, no. 5, pp. 1086–1103, 2021.
DOI: | 10.1002/mds.28485 |
Christina
Wittke,
Sonja
Petkovic,
Valerija
Dobricic,
Susen
Schaake,
[GROUP]
MDS endorsed PSP Study Group,
Gesine
Respondek,
Anne
Weissbach,
Harutyun
Madoev,
Joanne
Trinh,
Eva-Juliane
Vollstedt,
Neele
Kuhnke,
Katja
Lohmann,
Marija
Dulovic Mahlow,
Connie
Marras,
Inke R.
König,
Maria
Stamelou,
Vincenzo
Bonifati,
Christina M.
Lill,
Meike
Kasten,
Hans-Jürgen
Huppertz,
Günter
Höglinger, and
Christine
Klein,
Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review, Mov Disord , vol. 36, no. 7, pp. 1499–1510, 2021.
Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review, Mov Disord , vol. 36, no. 7, pp. 1499–1510, 2021.
DOI: | 10.1002/mds.28517 |
Nico
Adelhöfer,
Theresa
Paulus,
Moritz
Mückschel,
Tobias
Bäumer,
Annet
Bluschke,
Adam
Takacs,
Eszter
Tóth-Fáber,
Zsanett
Tarnok,
Veit
Roessner,
Anne
Weissbach,
Alexander
Münchau, and
Christian
Beste,
Increased scale-free and aperiodic neural activity during sensorimotor integration-a novel facet in Tourette syndrome, Brain Commun , vol. 3, no. 4, pp. fcab250, 2021.
Increased scale-free and aperiodic neural activity during sensorimotor integration-a novel facet in Tourette syndrome, Brain Commun , vol. 3, no. 4, pp. fcab250, 2021.
DOI: | 10.1093/braincomms/fcab250 |
Tina
Mainka,
Elena
Azañón,
Kirsten E.
Zeuner,
Arne
Knutzen,
Tobias
Bäumer,
Wolf-Julian
Neumann,
Friederike
Borngräber,
Andrea A.
Kühn,
Matthew R.
Longo, and
Christos
Ganos,
Intact Organization of Tactile Space Perception in Isolated Focal Dystonia, Mov Disord , vol. 36, no. 8, pp. 1949–1955, 2021.
Intact Organization of Tactile Space Perception in Isolated Focal Dystonia, Mov Disord , vol. 36, no. 8, pp. 1949–1955, 2021.
DOI: | 10.1002/mds.28607 |
Lina
Schubert,
Julius
Verrel,
Amelie
Behm,
Tobias
Bäumer,
Christian
Beste, and
Alexander
Münchau,
Inter-individual differences in urge-tic associations in Tourette syndrome, Cortex , vol. 143, pp. 80–91, 2021.
Inter-individual differences in urge-tic associations in Tourette syndrome, Cortex , vol. 143, pp. 80–91, 2021.
DOI: | 10.1016/j.cortex.2021.06.017 |
Julianne
Baarbe,
Michael
Vesia,
Matt
Brown,
Karlo J.
Lizarraga,
Carolyn A.
Gunraj,
Gaayathiri
Jegatheeswaran,
Neil M.
Drummond,
Cricia
Rinchon,
Anne
Weissbach,
James
Saravanamuttu, and
Robert
Chen,
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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases, Eur J Hum Genet , vol. 29, no. 9, pp. 1325–1331, 2021.
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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data, Eur J Hum Genet , vol. 29, no. 9, pp. 1337–1347, 2021.
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Solving unsolved rare neurological diseases-a Solve-RD viewpoint, Eur J Hum Genet , vol. 29, no. 9, pp. 1332–1336, 2021.
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