Lynn Pais

Broad Institute of MIT and Harvard

H指数:28

被引数:2,157

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

The Evidence Aggregator: AI reasoning applied to rare disease diagnostics

证据聚合器：将人工智能推理应用于罕见病诊断

Genetics in Medicine

IF6.2

2026-05-270

PRE

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models

HCN2相关神经发育障碍：患者数据和爪蟾细胞模型数据

Annals of Neurology

IF7.7

2025-06-050

OAAI

Clara Houdayer MSc, MD; A. Marie Phillips PhD; Marie Chabbert PhD; Jennifer Bourreau BS; Reza Maroofian PhD; Henry Houlden MD; Kay Richards PhD; Nebal Waill Saadi MD; Eliška Dad'ová MS; Patrick Van Bogaert MD, PhD; Mailys Rupin MD; Boris Keren MD; Perrine Charles MD, PhD; Thomas Smol MD, PhD; Audrey Riquet MD; Lynn Pais MS; Anne O'Donnell-Luria MD, PhD; Grace E. VanNoy MS; Allan Bayat MD, PhD; Rikke S Møller PhD; Kern Olofsson MD; Rami Abou Jamra MD; Steffen Syrbe MD, PhD; Majed Dasouki MD; Laurie H. Seaver MD; Jennifer A. Sullivan MS; Vandana Shashi MBBS, MD; Fowzan S. Alkuraya MD; Alexis F. Poss MS; J. Edward Spence MD; Rhonda E. Schnur MD; Ian C. Forster PhD; Chaseley E. Mckenzie MS; Cas Simons PhD; Min Wang PhD; Penny Snell MGenCouns; Kavitha Kothur MD, PhD; Michael Buckley MD; Tony Roscioli MD, PhD; Noha Elserafy MD; Benjamin Dauriat MD; Vincent Procaccio MD, PhD; Daniel Henrion PharmD, PhD; Guy Lenaers PhD; Estelle Colin MD, PhD; Nienke E. Verbeek MD, PhD; Koen L. Van Gassen MD, PhD; Claire Legendre PhD; Dominique Bonneau MD, PhD; Christopher A. Reid PhD; Katherine B. Howell MBBS, PhD; Alban Ziegler MD, PhD; Christian Legros PhD

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

通过对超过6,500个罕见病家庭的外显子组和基因组测序数据进行系统分析，实现了线粒体DNA变异的检测，从而解决了未确诊病例。

Human Genetics and Genomics Advances

IF3.6

2025-04-150

OAAI

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration

Del-Pozo-Rodriguez J, Tilly P, Lecat R, Vaca HR, Mosser L, Brivio E, et al. ADAT3变体破坏了ADAT tRNA脱氨酶复合物的活性并损害神经元迁移。Brain: J Neurol. (2025) 148:3407–21. doi: 10.1093/brain/awaf109

Brain

IF11.7

2025-03-220

OAAI

Jordi Del-Pozo-Rodriguez; Peggy Tilly; Romain Lecat; Hugo Rolando Vaca; Laureline Mosser; Elena Brivio; Till Balla; Marina Vitoria Gomes; Elizabeth Ramos-Morales; Noémie Schwaller; Thalia Salinas-Giegé; Grace VanNoy; Eleina M England; Alysia Kern Lovgren; Melanie O’Leary; Maya Chopra; Naomi Meave Ojeda; Mehran Beiraghi Toosi; Atieh Eslahi; Masoome Alerasool; Majid Mojarrad; Lynn S Pais; Rebecca C Yeh; Dustin L Gable; Mais O Hashem; Firdous Abdulwahab; Muath Rakiz Alqurashi; Loai Z Sbeih; Omar Abu Adas Blanco; Renad Abu Khater; Gabriela Oprea; Aboulfazl Rad; Hamad Alzaidan; Hesham Aldhalaan; Ehab Tous; Afaf Alsagheir; Mohammed Alowain; Abdullah Tamim; Khowlah Alfayez; Amal Alhashem; Aisha Alnuzha; Mona Kamel; Bashayer S Al-Awam; Walaa Elnaggar; Nihal Almenabawy; Anne O'Donnell-Luria; Jennifer E Neil; Joseph G Gleeson; Christopher A Walsh; Fowzan S Alkuraya; Lama AlAbdi; Nour Elkhateeb; Laila Selim; Siddharth Srivastava; Danny D Nedialkova; Laurence Drouard; Christophe Romier; Efil Bayam; Juliette D Godin

Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2025-03-010

PRE

Jurgens, Julie A.; Ruiz, Paola M. Matos; King, Jessica; Foster, Emma E.; Berube, Lindsay; Chan, Wai-Man; Barry, Brenda J.; Jeong, Raehoon; Rothman, Elisabeth; Whitman, Mary C.; MacKinnon, Sarah; Rivera-Quiles, Cristina; Pratt, Brandon M.; Easterbrooks, Teresa; Mensching, Fiona M.; Di Gioia, Silvio Alessandro; Pais, Lynn; England, Eleina M.; de Berardinis, Teresa; Magli, Adriano; Koc, Feray; Asakawa, Kazuhide; Kawakami, Koichi; O'Donnell-Luria, Anne; Hunter, David G.; Robson, Caroline D.; Bulyk, Martha L.; Engle, Elizabeth C.

Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2025-02-010

OAAI

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2025-02-010

PRE

Verbinnen, Iris; Houge, Sofia Douzgou; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Genevieve, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J.; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X.; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M.; Foss, Kimberly; Dobyns, William; White, Susan M.; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A.; van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J.; Ruiz, Anna; Quintero, Juan Pablo Trujillo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K.; Weisenberg, Judith L.; Haack, Tobias B.; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Heus, Karen G. C. B. Bindels de; Wit, Marie-Claire Y. de; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Geraldine; Spillmann, Rebecca C.; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M.; Houge, Gunnar Douzgos; Janssens, Veerle

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

在基因组、外显子组和基因 panel 测序数据集中诊断脊髓性肌萎缩症漏诊病例

GENETICS IN MEDICINE

IF6.2

2024-12-011

PRE

Weisburd, Ben; Sharma, Rakshya; Pata, Villem; Reimand, Tiia; Ganesh, Vijay S.; Austin-Tse, Christina; Osei-Owusu, Ikeoluwa; O'Heir, Emily; O'Leary, Melanie; Pais, Lynn; Stafki, Seth A.; Daugherty, Audrey L.; Folland, Chiara; Peric, Stojan; Fahmy, Nagia; Udd, Bjarne; Horakova, Magda; Lusakowska, Anna; Manoj, Rajanna; Nalini, Atchayaram; Karcagi, Veronika; Polavarapu, Kiran; Lochmuller, Hanns; Horvath, Rita; Bonnemann, Carsten G.; Donkervoort, Sandra; Haliloglu, Goknur; Herguner, Ozlem; Kang, Peter B.; Scott, Hamish S.; Topf, Ana; Straub, Volker; Pajusalu, Sander; Ounap, Katrin; Tiao, Grace; Rehm, Heidi L.; O'Donnell-Luria, Anne

Epigenomic and phenotypic characterization of DEGCAGS syndrome

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-10-191

PRE

Karimi, Karim; Weis, Denisa; Aukrust, Ingvild; Hsieh, Tzung-Chien; Horackova, Marie; Paulsen, Julie; Mendoza Londono, Roberto; Dupuis, Lucie; Dickson, Megan; Lesman, Hellen; Lau, Tracy; Murphy, David; Hama Salih, Khalid; Al-Musawi, Bassam M. S.; Al-Obaidi, Ruqayah G. Y.; Rydzanicz, Malgorzata; Biela, Mateus; Santos, Mafalda Saraiva; Aldeeri, Abdulrahman; Gazda, Hanna T.; Pais, Lynn; Shril, Shirlee; Dollner, Henrik; Bartakke, Sandip; Laccone, Franco; Soltysova, Andrea; Kitzler, Thomas; Soliman, Neveen A.; Relator, Raissa; Levy, Michael A.; Kerkhof, Jennifer; Rzasa, Jessica; Houlden, Henry; Pilshofer, Gabriela V.; Jobst-Schwan, Tilman; Hildebrandt, Friedhelm; Sousa, Sergio B.; Maroofian, Reza; Yu, Timothy W.; Krawitz, Peter; Sadikovic, Bekim; Douzgou Houge, Sofia

Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2024-08-021

OAAI

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

KMT2C的致病变异导致与Kleefstra和Kabuki综合征不同的神经发育障碍

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-08-014

PRE

Rots, Dmitrijs; Choufani, Sanaa; Faundes, Victor; Dingemans, Alexander J. M.; Joss, Shelagh; Foulds, Nicola; Jones, Elizabeth A.; Stewart, Sarah; Vasudevan, Pradeep; Dabir, Tabib; Park, Soo-Mi; Jewell, Rosalyn; Brown, Natasha; Pais, Lynn; Jacquemont, Sebastien; Jizi, Khadije; van Ravenswaaij-Arts, Conny M. A.; Kroes, Hester Y.; Stumpel, Constance T. R. M.; Ockeloen, Charlotte W.; Diets, Illja J.; Nizon, Mathilde; Vincent, Marie; Cogne, Benjamin; Besnard, Thomas; Kambouris, Marios; Anderson, Emily; Zackai, Elaine H.; McDougall, Carey; Donoghue, Sarah; O'Donnell-Luria, Anne; Valivullah, Zaheer; O'Leary, Melanie; Srivastava, Siddharth; Byers, Heather; Leslie, Nancy; Mazzola, Sarah; Tiller, George E.; Vera, Moin; Shen, Joseph J.; Boles, Richard; Jain, Vani; Brischoux-Boucher, Elise; Kinning, Esther; Simpson, Brittany N.; Giltay, Jacques C.; Harris, Jacqueline; Keren, Boris; Guimier, Anne; Marijon, Pierre; de Vries, Bert B. A.; Motter, Constance S.; Mendelsohn, Bryce A.; Coffino, Samantha; Gerkes, Erica H.; Afenjar, Alexandra; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena; Delahaye-Duriez, Andree; Gooch, Catherine; Hendriks, Yvonne; Adams, Hieab; Thauvin-Robinet, Christel; Josephi-Taylor, Sarah; Bertoli, Marta; Parker, Michael J.; Rutten, Julie W.; Caluseriu, Oana; Vernon, Hilary J.; Kaziyev, Jonah; Zhu, Jia; Kremen, Jessica; Frazier, Zoe; Osika, Hailey; Breault, David; Nair, Sreelata; Lewis, Suzanne M. E.; Ceroni, Fabiola; Viggiano, Marta; Posar, Annio; Brittain, Helen; Giovanna, Traficante; Giulia, Gori; Quteineh, Lina; Leuchter, Russia Ha-Vinh; Zonneveld-Huijssoon, Evelien; Mellado, Cecilia; Marey, Isabelle; Coudert, Alicia; Alvarez, Mariana Ines Aracena; Kennis, Milou G. P.; Bouman, Arianne; Roifman, Maian; Rodriguez, Maria Inmaculada Amoros; Ortigoza-Escobar, Juan Dario; Vernimmen, Vivian; Sinnema, Margje; Pfundt, Rolph; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Weksberg, Rosanna; Banka, Siddharth

Genome Sequencing for Diagnosing Rare Diseases

NEW ENGLAND JOURNAL OF MEDICINE

IF78.5

2024-06-0610

PRE

Wojcik, Monica H.; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S.; Wissmann, Mariel; Win, Wathone; White, Susan M.; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B.; Verboon, Jeffrey M.; VanNoy, Grace E.; Toepf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L.; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G.; Schneider, Ronen; Sankaran, Vijay G.; Sanchis-Juan, Alba; Russell, Kathryn A.; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A.; Place, Emily M.; Pajusalu, Sander; Pais, Lynn; Ounap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F.; Merkenschlager, Andreas; Marchant, Rhett G.; Mangilog, Brian E.; Madden, Jill A.; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P.; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G.; Ghaoui, Roula; Genetti, Casie A.; Gburek-Augustat, Janina; Gazda, Hanna T.; Ganesh, Vijay S.; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M.; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T.; Chung, Wendy K.; Christodoulou, John; Chao, Katherine R.; Cato, Liam D.; Bujakowska, Kinga M.; Bryen, Samantha J.; Brand, Harrison; Boennemann, Carsten G.; Beggs, Alan H.; Baxter, Samantha M.; Bartolomaeus, Tobias; Agrawal, Pankaj B.; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L.; O'Donnell-Luria, Anne

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-05-017

OAAI

Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R.; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S.; Wojcik, Monica H.; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L.; Neil, Jennifer E.; Shao, Diane D.; Walsh, Christopher A.; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H.; Gleeson, Joseph G.; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G.; Madden, Jill A.; Genetti, Casie A.; Beggs, Alan H.; Agrawal, Pankaj B.; Bujakowska, Kinga M.; Place, Emily; Pierce, Eric A.; Donkervoort, Sandra; Boennemann, Carsten G.; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M.; Toepf, Ana; Straub, Volker; Fleming, Mark D.; Pollak, Martin R.; Ounap, Katrin; Pajusalu, Sander; Donald, Kirsten A.; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G.; MacArthur, Daniel G.; Rehm, Heidi L.; Talkowski, Michael E.; Brand, Harrison; O'Donnell-Luria, Anne

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

HUMAN GENOMICS

IF4.3

2024-04-293

OAAI

Stenton, Sarah L.; O'Leary, Melanie C.; Lemire, Gabrielle; Vannoy, Grace E.; Ditroia, Stephanie; Ganesh, Vijay S.; Groopman, Emily; O'Heir, Emily; Mangilog, Brian; Osei-Owusu, Ikeoluwa; Pais, Lynn S.; Serrano, Jillian; Singer-Berk, Moriel; Weisburd, Ben; Wilson, Michael W.; Austin-Tse, Christina; Abdelhakim, Marwa; Althagafi, Azza; Babbi, Giulia; Bellazzi, Riccardo; Bovo, Samuele; Carta, Maria Giulia; Casadio, Rita; Coenen, Pieter-Jan; De Paoli, Federica; Floris, Matteo; Gajapathy, Manavalan; Hoehndorf, Robert; Jacobsen, Julius O. B.; Joseph, Thomas; Kamandula, Akash; Katsonis, Panagiotis; Kint, Cyrielle; Lichtarge, Olivier; Limongelli, Ivan; Lu, Yulan; Magni, Paolo; Mamidi, Tarun Karthik Kumar; Martelli, Pier Luigi; Mulargia, Marta; Nicora, Giovanna; Nykamp, Keith; Pejaver, Vikas; Peng, Yisu; Pham, Thi Hong Cam; Podda, Maurizio S.; Rao, Aditya; Rizzo, Ettore; Saipradeep, Vangala G.; Savojardo, Castrense; Schols, Peter; Shen, Yang; Sivadasan, Naveen; Smedley, Damian; Soru, Dorian; Srinivasan, Rajgopal; Sun, Yuanfei; Sunderam, Uma; Tan, Wuwei; Tiwari, Naina; Wang, Xiao; Wang, Yaqiong; Williams, Amanda; Worthey, Elizabeth A.; Yin, Rujie; You, Yuning; Zeiberg, Daniel; Zucca, Susanna; Bakolitsa, Constantina; Brenner, Steven E.; Fullerton, Stephanie M.; Radivojac, Predrag; Rehm, Heidi L.; O'Donnell-Luria, Anne

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2024-02-152

OAAI

Szot, Justin O.; Cuny, Hartmut; Martin, Ella M. M. A.; Sheng, Delicia Z.; Iyer, Kavitha; Portelli, Stephanie; Nguyen, Vivien; Gereis, Jessica M.; Alankarage, Dimuthu; Chitayat, David; Chong, Karen; Wentzensen, Ingrid M.; Vincent-Delorme, Catherine; Lermine, Alban; Burkitt-Wright, Emma; Ji, Weizhen; Jeffries, Lauren; Pais, Lynn S.; Tan, Tiong Y.; Pitt, James; Wise, Cheryl A.; Wright, Helen; Andrews, Israel D.; Pruniski, Brianna; Grebe, Theresa A.; Corsten-Janssen, Nicole; Bouman, Katelijne; Poulton, Cathryn; Prakash, Supraja; Keren, Boris; Brown, Natasha J.; Hunter, Matthew F.; Heath, Oliver; Lakhani, Saquib A.; McDermott, John H.; Ascher, David B.; Chapman, Gavin; Bozon, Kayleigh; Dunwoodie, Sally L.

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias (vol 25, 100927, 2023)

GENETICS IN MEDICINE

IF6.2

2023-11-011

Harms, Frederike L.; Dingemans, Alexander J. M.; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Mueller, Christian; Niermeijer, Jikke-Mien F.; Fischer, Jan; Jahn, Arne; Huebner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; van der Smagt, Jasper; Ernst, Robert; van Binsbergen, Ellen; Mancini, Grazia M. S.; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Wakeling, Emma L.; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M.; de Vries, Bert B. A.; Kutsche, Kerstin

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

GENETICS IN MEDICINE

IF6.2

2023-10-012

PRE

Harms, Frederike L.; Dingemans, Alexander J. M.; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Mueller, Christian; Niermeijer, Jikke-Mien F.; Fischer, Jan; Jahn, Arne; Huebner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; Van der Smagt, Jasper; Ernst, Robert; Van Binsbergen, Ellen; Mancini, Grazia M. S.; Van Slegtenhorst, Marjon; Barakat, Tahsin S.; Wakeling, Emma L.; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M.; de Vries, Bert B. A.; Kutsche, Kerstin

Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7)

HUMAN MOLECULAR GENETICS

IF3.2

2023-09-180

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-06-0116

OAAI

Morales-Rosado, Joel A.; Schwab, Tanya L.; Macklin-Mantia, Sarah K.; Foley, A. Reghan; Vairo, Filippo Pinto e; Pehlivan, Davut; Donkervoort, Sandra; Rosenfeld, Jill A.; Boyum, Grace E.; Hu, Ying; Cong, Anh T. Q.; Lotze, Timothy E.; Mohila, Carrie A.; Saade, Dimah; Bharucha-Goebel, Diana; Chao, Katherine R.; Grunseich, Christopher; Bruels, Christine C.; Littel, Hannah R.; Estrella, Elicia A.; Pais, Lynn; Kang, Peter B.; Zimmermann, Michael T.; Lupski, James R.; Lee, Brendan; Schellenberg, Matthew J.; Clark, Karl J.; Wierenga, Klaas J.; Bonnemann, Carsten G.; Klee, Eric W.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-05-0117

OAAI

Bogaert, Elke; Garde, Aurore; Gautier, Thierry; Rooney, Kathleen; Duffourd, Yannis; LeBlanc, Pontus; van Reempts, Emma; Mau-Them, Frederic Tran; Wentzensen, Ingrid M.; Au, Kit Sing; Richardson, Kate; Northrup, Hope; Gatinois, Vincent; Genevieve, David; Louie, Raymond J.; Lyons, Michael J.; Laulund, Lone Walentin; Brasch-Andersen, Charlotte; Juul, Trine Maxel; El It, Fatima; Marle, Nathalie; Callier, Patrick; Relator, Raissa; Haghshenas, Sadegheh; McConkey, Haley; Kerkhof, Jennifer; Cesario, Claudia; Novelli, Antonio; Brunetti-Pierri, Nicola; Pinelli, Michele; Pennamen, Perrine; Naudion, Sophie; Legendre, Marine; Courdier, Cecile; Trimouille, Aurelien; Fenzy, Martine Doco; Pais, Lynn; Yeung, Alison; Nugent, Kimberly; Roeder, Elizabeth R.; Mitani, Tadahiro; Posey, Jennifer E.; Calame, Daniel; Yonath, Hagith; Rosenfeld, Jill A.; Musante, Luciana; Faletra, Flavio; Montanari, Francesca; Sartor, Giovanna; Vancini, Alessandra; Seri, Marco; Besmond, Claude; Poirier, Karine; Hubert, Laurence; Hemelsoet, Dimitri; Munnich, Arnold; Lupski, James R.; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence; Sadikovic, Bekim; Govin, Jerome; Dermaut, Bart; Vitobello, Antonio

Lynn Pais

个人简介

教育背景

工作经历

荣誉奖项

研究方向