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R

Rachel Rabin

department of pediatrics

14H-index
38Paper Count
518Citation Count
Published Papers 18
Publication Date
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The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome
errGenome Medicine
IF11.2
err2026-08-22
err0
errOAAI
errDebora Tibbe; Christina Kiel; Olena Ielesicheva; Kerstin Robles de Maruri; Helia Mahboobi; Joschka Züghart; Hans-Hinrich Hönck; Christoph Meier; Fabiola Biasella; Marcela Legüe; María Francisca Lopez Avaria; Edward Blair; Tracy Lester; Benito Banos-Pinero; Jose S. Pulido; Adele Schneider; Rebecca Procopio; Chloe Quelin; Bailey J. Leal; Julian A. Martinez-Agosto; Stephanie A. Bottomley; Ágnes Till; Kinga Hadzsiev; Renata Szalai; Kathryn Nicole Weaver; Joel Fluss; Henri Margot; Berta Almoguera; Isabel Lorda-Sánchez; Lucía López-López; J. Austin Hamm; Himanshu Goel; Yasemin Alanay; Ozlem Akgun Doğan; Gulşah Şebnem Ozkose-Iyigel; Genevieve Baujat; Marion Lesieur-Sebellin; Sophie Rondeau; Katherine Schon; Joseph Christopher; Bertrand Isidor; Benjamin Cogne; Neena S. Agrawal; Ryan Dahlhauser; Yutaka Furuta; Rachel Rabin; John Pappas; Chirag Patel; Irma Järvelä; Merja Rauhala; Isabelle Schrauwen; Suzanne M. Leal; Siddharth Banka; Riya Tharakan; Céline Pebrel-Richard; Fanny Laffargue; Nelly Durand; Tristan Celse; Maja Hempel; Ilia Valentin; Andrea Gregorova; Lenka Noskova; Sara Baumgartner; Christa Überbacher; Kai Muru; Ülle Murumets; Stella Lilles; Katharina Steindl; Anita Rauch; Federica Ruscitti; Alain Verloes; Jonathan Levy; Joohyun Park; Tobias B. Haack; Ingrid Bader; Sophie Julia; Guillaume Banneau; Alison M. Muir; Davor Lessel; Hans-Jürgen Kreienkamp
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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
errNature Communications
IF15.7
err2025-11-26
err0
errOAAI
errSébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
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Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder
errGenetics in Medicine
IF6.2
err2025-08-13
err0
errOAAI
errAmber S.E. van Oirsouw; Pavla Nedbalova; Miroslava Hancarova; Jan Prchal; Darina Prchalova; Marketa Vlckova; Sarka Bendova; Kristin G. Monaghan; Lisa M. Dyer; Yanmin Chen; Deanna Alexis Carere; Emma A.M. te Bogt; Heather Fisher; Angela E. Scheuerle; Stephanie Riley; Mahim Jain; Weiyi Mu; Joann N. Bodurtha; Albertien M. van Eerde; Marijn F. Stokman; Nicola Longo; Meena Balasubramanian; Michael Spiller; Gregory Costain; Charlotte von der Lippe; Kristian Tveten; Marianne Jortveit; Øystein L. Holla; Bertrand Isidor; Benjamin Cogné; Kevin E. Glinton; Blake Vuocolo; Roberta Ann Sierra; Brad Angle; Kelly Bontempo; Klaas Koop; Rachel Rabin; John Pappas; David A. Staffenberg; Pascal Joset; Peter Miny; Isabel Filges; Abdulrazak Alali; Kara Vitalone; Jill A. Rosenfeld; Weimin Bi; Samuel Bradbrook; Renee Perrier; Subhadra Ramanathan; June-Anne Gold; María Palomares Bralo; María Ángeles Gómez-Cano; Ann Haskins Olney; Shelly Nielsen; Alban Ziegler; Dominique Bonneau; Clément Prouteau; Ange-Line Bruel; Charlotte Caille-Benigni; Laëtitia Lambert; Andrea C. Yu; Nathaniel H. Robin; Dana Goodloe; Jan Fischer; Joseph Porrmann; Yvonne D. Hennig; Rami Abou Jamra; Isabella Herman; Ivy R. Johnson; Lucas Hérissant; Guillaume Jouret; Koen L.I. van Gassen; Ellen van Binsbergen; Bert van der Zwaag; Alwin Kamermans; Renske Oegema; Zdenek Sedlacek; Michaela Fenckova; Richard H. van Jaarsveld
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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-02-01
err0
errOAAI
errLessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor
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Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-02-01
err0
PREAI
errVerbinnen, 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
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Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants
errEPILEPSIA
IF6.6
err2024-07-02
err1
PREAI
errCuccurullo, Claudia; Irelli, Emanuele Cerulli; Ugga, Lorenzo; Riva, Antonella; D'Amico, Alessandra; Cabet, Sara; Lesca, Gaetan; Bilo, Leonilda; Zara, Federico; Iliescu, Catrinel; Barca, Diana; Fung, France; Helbig, Katherine; Ortiz-Gonzalez, Xilma; Schelhaas, Helenius J.; Willemsen, Marjolein H.; van der Linden, Inge; Canafoglia, Laura; Courage, Carolina; Gommaraschi, Samuele; Gonzalez-Alegre, Pedro; Bardakjian, Tanya; Syrbe, Steffen; Schuler, Elisabeth; Lemke, Johannes R.; Vari, Stella; Roende, Gitte; Bak, Mads; Huq, Mahbulul; Powis, Zoe; Johannesen, Katrine M.; Hammer, Trine Bjorg; Moller, Rikke S.; Rabin, Rachel; Pappas, John; Zupanc, Mary L.; Zadeh, Neda; Cohen, Julie; Naidu, Sakkubai; Krey, Ilona; Saneto, Russell; Thies, Jenny; Licchetta, Laura; Tinuper, Paolo; Bisulli, Francesca; Minardi, Raffaella; Bayat, Allan; Villeneuve, Nathalie; Molinari, Florence; Dafsari, Hormos Salimi; Moller, Birk; Le Roux, Marie; Houdayer, Clara; Vecchi, Marilena; Mammi, Isabella; Fiorini, Elena; Proietti, Jacopo; Ferri, Sofia; Cantalupo, Gaetano; Battaglia, Domenica Immacolata; Gambardella, Maria Luigia; Contaldo, Ilaria; Brogna, Claudia; Trivisano, Marina; De Dominicis, Angela; Bova, Stefania Maria; Gardella, Elena; Striano, Pasquale; Coppola, Antonietta
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Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
errCELL DEATH & DISEASE
IF9.6
err2024-05-30
err6
errOAAI
errWerren, Elizabeth A.; Peirent, Emily R.; Jantti, Henna; Guxholli, Alba; Srivastava, Kinshuk Raj; Orenstein, Naama; Narayanan, Vinodh; Wiszniewski, Wojciech; Dawidziuk, Mateusz; Gawlinski, Pawel; Umair, Muhammad; Khan, Amjad; Khan, Shahid Niaz; Genevieve, David; Lehalle, Daphne; van Gassen, K. L. I.; Giltay, Jacques C.; Oegema, Renske; van Jaarsveld, Richard H.; Rafiullah, Rafiullah; Rappold, Gudrun A.; Rabin, Rachel; Pappas, John G.; Wheeler, Marsha M.; Bamshad, Michael J.; Tsan, Yao-Chang; Johnson, Matthew B.; Keegan, Catherine E.; Srivastava, Anshika; Bielas, Stephanie L.
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Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans
errJOURNAL OF CLINICAL INVESTIGATION
IF13.6
err2023-04-03
err2
errOAAI
errFletcher, Sally C.; Hall, Charlotte; Kennedy, Tristan J.; Pajusalu, Sander; Wojcik, Monica H.; Boora, Uncaar; Li, Chan; Oja, Kaisa Teele; Hendrix, Eline; Westrip, Christian A. E.; Andrijes, Regina; Piasecka, Sonia K.; Singh, Mansi; El-Asrag, Mohammed E.; Ptasinska, Anetta; Tillmann, Vallo; Higgs, Martin R.; Carere, Deanna A.; Beggs, Andrew D.; Pappas, John; Rabin, Rachel; Smerdon, Stephen J.; Stewart, Grant S.; Ounap, Katrin; Coleman, Mathew L.
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De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
errGENETICS IN MEDICINE
IF6.2
err2022-09-01
err4
errOAAI
errDias, Kerith-Rae; Carlston, Colleen M.; Blok, Laura E. R.; De Hayr, Lachlan; Nawaz, Urwah; Evans, Carey-Anne; Bayrak-Toydemir, Pinar; Htun, Stephanie; Zhu, Ying; Ma, Alan; Lynch, Sally Ann; Moorwood, Catherine; Stals, Karen; Ellard, Sian; Bainbridge, Matthew N.; Friedman, Jennifer; Pappas, John G.; Rabin, Rachel; Nowak, Catherine B.; Douglas, Jessica; Wilson, Theodore E.; Sacoto, Maria J. Guillen; Mullegama, Sureni, V; Palculict, Timothy Blake; Kirk, Edwin P.; Pinner, Jason R.; Edwards, Matthew; Montanari, Francesca; Graziano, Claudio; Pippucci, Tommaso; Dingmann, Bri; Glass, Ian; Mefford, Heather C.; Shimoji, Takeyoshi; Suzuki, Toshimitsu; Yamakawa, Kazuhiro; Streff, Haley; Schaaf, Christian P.; Slavotinek, Anne M.; Voineagu, Irina; Carey, John C.; Buckley, Michael F.; Schenck, Annette; Harvey, Robert J.; Roscioli, Tony
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Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder
errGENETICS IN MEDICINE
IF6.2
err2022-07-01
err3
errOAAI
errMeuwissen, Marije; Verstraeten, Aline; Ranza, Emmanuelle; Iwaszkiewicz, Justyna; Bastiaansen, Maaike; Mateiu, Ligia; Nemegeer, Merlijn; Meester, Josephina A. N.; Afenjar, Alexandra; Amaral, Michelle; Ballhausen, Diana; Barnett, Sarah; Barth, Magalie; Asselbergh, Bob; Spaas, Katrien; Heeman, Bavo; Bassetti, Jennifer; Blackburn, Patrick; Schaer, Marie; Blanc, Xavier; Zoete, Vincent; Casas, Kari; Courtin, Thomas; Doummar, Diane; Guerry, Frederic; Keren, Boris; Pappas, John; Rabin, Rachel; Begtrup, Amber; Shinawi, Marwan; Vulto-van Silfhout, Anneke T.; Kleefstra, Tjitske; Wagner, Matias; Ziegler, Alban; Schaefer, Elise; Gerard, Benedicte; De Bie, Charlotte, I; Holwerda, Sjoerd J. B.; Abbot, Mary Alice; Antonarakis, Stylianos E.; Loeys, Bart
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Expanding the phenotypic spectrum of COLEC10-related 3MC syndrome: A glimpse into COLEC10-related 3MC syndrome in the Ashkenazi Jewish population
errGENETICS IN MEDICINE
IF6.2
err2022-03-01
err0
errOAAI
errRabin, Rachel; Hirsch, Yoel; Chung, Wendy; Ekstein, Josef; Booth, Kevin; Pappas, John
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Novel variant in ARSA associated with late infantile metachromatic leukodystrophy and heterozygote rate in individuals of Ashkenazi Jewish ancestry
errGENETICS IN MEDICINE
IF6.2
err2022-03-01
err0
errOAAI
errPappas, John; Rabin, Rachel; Mistry, Pramod; Hirsch, Yoel; Yachelevich, Naomi
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De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation
errPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
err2021-12-20
err15
errOAAI
errHalvorsen, Matthew; Gould, Laura; Wang, Xiaohan; Grant, Gariel; Moya, Raquel; Rabin, Rachel; Ackerman, Michael J.; Tester, David J.; Lin, Peter T.; Pappas, John G.; Maurano, Matthew T.; Goldstein, David B.; Tsien, Richard W.; Devinsky, Orrin
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CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
errGENETICS IN MEDICINE
IF6.2
err2021-06-01
err12
errOAAI
errZarate, Yuri A.; Uehara, Tomoko; Abe, Kota; Oginuma, Masayuki; Harako, Sora; Ishitani, Shizuka; Lehesjoki, Anna-Elina; Bierhals, Tatjana; Kloth, Katja; Ehmke, Nadja; Horn, Denise; Holtgrewe, Manuel; Anderson, Katherine; Viskochil, David; Edgar-Zarate, Courtney L.; Sacoto, Maria J. Guillen; Schnur, Rhonda E.; Morrow, Michelle M.; Sanchez-Valle, Amarilis; Pappas, John; Rabin, Rachel; Muona, Mikko; Anttonen, Anna-Kaisa; Platzer, Konrad; Luppe, Johannes; Gburek-Augustat, Janina; Kaname, Tadashi; Okamoto, Nobuhiko; Mizuno, Seiji; Kaido, Yusaku; Ohkuma, Yoshiaki; Hirose, Yutaka; Ishitani, Tohru; Kosaki, Kenjiro
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A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2021-01-04
err9
errOAAI
errHirsch, Yoel; Tangshewinsirikul, Chayada; Booth, Kevin T.; Azaiez, Hela; Yefet, Devorah; Quint, Adina; Weiden, Tzvi; Brownstein, Zippora; Macarov, Michal; Davidov, Bella; Pappas, John; Rabin, Rachel; Kenna, Margaret A.; Oza, Andrea M.; Lafferty, Katherine; Amr, Sami S.; Rehm, Heidi L.; Kolbe, Diana L.; Frees, Kathy; Nishimura, Carla; Luo, Minjie; Farra, Chantal; Morton, Cynthia C.; Scher, Sholem Y.; Ekstein, Josef; Avraham, Karen B.; Smith, Richard J. H.; Shen, Jun
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Germline AGO2 mutations impair RNA interference and human neurological development
errNATURE COMMUNICATIONS
IF15.7
err2020-11-16
err44
errOAAI
errLessel, Davor; Zeitler, Daniela M.; Reijnders, Margot R. F.; Kazantsev, Andriy; Nia, Fatemeh Hassani; Bartholomaeus, Alexander; Martens, Victoria; Bruckmann, Astrid; Graus, Veronika; McConkie-Rosell, Allyn; McDonald, Marie; Lozic, Bernarda; Tan, Ee-Shien; Gerkes, Erica; Johannsen, Jessika; Denecke, Jonas; Telegrafi, Aida; Zonneveld-Huijssoon, Evelien; Lemmink, Henny H.; Cham, Breana W. M.; Kovacevic, Tanja; Ramsdell, Linda; Foss, Kimberly; Le Duc, Diana; Mitter, Diana; Syrbe, Steffen; Merkenschlager, Andreas; Sinnema, Margje; Panis, Bianca; Lazier, Joanna; Osmond, Matthew; Hartley, Taila; Mortreux, Jeremie; Busa, Tiffany; Missirian, Chantal; Prasun, Pankaj; Luettgen, Sabine; Mannucci, Ilaria; Lessel, Ivana; Schob, Claudia; Kindler, Stefan; Pappas, John; Rabin, Rachel; Willemsen, Marjolein; Gardeitchik, Thatjana; Loehner, Katharina; Rump, Patrick; Dias, Kerith-Rae; Evans, Carey-Anne; Andrews, Peter Ian; Roscioli, Tony; Brunner, Han G.; Chijiwa, Chieko; Lewis, M. E. Suzanne; Abou Jamra, Rami; Dyment, David A.; Boycott, Kym M.; Stegmann, Alexander P. A.; Kubisch, Christian; Tan, Ene-Choo; Mirzaa, Ghayda M.; McWalter, Kirsty; Kleefstra, Tjitske; Pfundt, Rolph; Ignatova, Zoya; Meister, Gunter; Kreienkamp, Hans-Juergen
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Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2019-11-01
err24
errOAAI
errBoyden, Lynn M.; Atzmony, Lihi; Hamilton, Claire; Zhou, Jing; Lim, Young H.; Hu, Ronghua; Pappas, John; Rabin, Rachel; Ekstien, Joseph; Hirsch, Yoel; Prendiville, Julie; Lifton, Richard P.; Ferguson, Shawn; Choate, Keith A.
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Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
errGENETICS IN MEDICINE
IF6.2
err2019-09-01
err24
errOAAI
errTorti, Erin; Keren, Boris; Palmer, Elizabeth E.; Zhu, Zehua; Afenjar, Alexandra; Anderson, Ilse J.; Andrews, Marisa, V; Atkinson, Celia; Au, Margaret; Berry, Susan A.; Bowling, Kevin M.; Boyle, Jackie; Buratti, Julien; Cathey, Sara S.; Charles, Perrine; Cogne, Benjamin; Courtin, Thomas; Escobar, Luis F.; Finley, Sabra Ledare; Graham, John M., Jr.; Grange, Dorothy K.; Heron, Delphine; Hewson, Stacy; Hiatt, Susan M.; Hibbs, Kathleen A.; Jayakar, Parul; Kalsner, Louisa; Larcher, Lise; Lesca, Gaetan; Mark, Paul R.; Miller, Kathryn; Nava, Caroline; Nizon, Mathilde; Pai, G. Shashidhar; Pappas, John; Parsons, Gretchen; Payne, Katelyn; Putoux, Audrey; Rabin, Rachel; Sabatier, Isabelle; Shinawi, Marwan; Shur, Natasha; Skinner, Steven A.; Valence, Stephanie; Warren, Hannah; Whalen, Sandra; Crunk, Amy; Douglas, Ganka; Monaghan, Kristin G.; Person, Richard E.; Willaert, Rebecca; Solomon, Benjamin D.; Juusola, Jane
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Research Directions

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Co-authors
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