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Lauren O’Grady

Division of Medical Genetics and Metabolism

5H-index
16Paper Count
143Citation Count
Published Papers 7
Publication Date
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De Novo Missense Variants in CHTF18: The Potential to Expand the Clinical Spectrum of Cohesinopathies
errHuman Genetics and Genomics Advances
IF3.6
err2025-07-26
err0
errOAAI
errErfan Aref-Eshghi; Ingrid M. Wentzensen; Tawfeg Ben-Omran; Reem Ibrahim Bux; Nina B. Gold; Erin McRoy; Hoanh Nguyen; Lauren O’Grady; Shao Ching Tu; Yanmin Chen; Leandra Folk; Bobbi McGivern
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errSave
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study
errMolecular Genetics and Metabolism
IF3.5
err2025-07-21
err0
errOAAI
errSebastian Roesch; Anna O'Sullivan; Stefan Tschani; Anna Baghdasaryan; Shanti Balasubramaniam; Ivo Barić; Lonneke de Boer; Sarah C. Grünert; Anna Guzek; Mirian Janssen; Zita Krumina; Mary Kay Koenig; Ashleigh M. Lewkowitz; Fanny Mochel; Arianne Monge Naldi; Barbara Plecko; Kerem Öztürk; Lauren O'Grady; Gillian Riordan; Daisy Rymen; Inderneel Sahai; René Santer; Manuel Schiff; Georg M. Stettner; Konstantinos Tsiakas; Sema Kalkan Uçar; Özlem Ünal Uzun; Corina Weigel; Peter Witters; Kajus Merkevicius; Johannes A. Mayr; Saskia B. Wortmann; Katarzyna Iwanicka-Pronicka
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errSave
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing
errNPJ GENOMIC MEDICINE
IF4.8
err2025-05-09
err0
errOAAI
errAlexandra C. Keefe; Dana M. Jensen; Meranda M. Pham; Natalie Y T Au; Erika Beckman; Monica Penon-Portmann; Emily Shelkowitz; Renee Bend; Michelle M. Morrow; Paul Kruszka; Divya Vats; Bianca E. Russell; Erica Chan; Derek Wong; Ahna Rabani; Lauren O’Grady; Inderneel Sahai; Kimberly Widmeyer; Ethan D. Sperry; Barbara E. Hallinan; Rebecca Tryon; Troy C. Lund; Florian S. Eichler; Angela Sun; James T. Bennett
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errSave
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-05-01
err1
errOAAI
errDardas, Z; Harrold, L; Calame, DG; Salter, CG; Kikuma, T; Guay, KP; Ng, BG; Sano, K; Saad, AK; Du, HW; Sangermano, R; Patankar, SG; Jhangiani, SN; Gürsoy, S; Abdel-Hamid, MS; Ahmed, MKH; Maroofian, R; Kaiyrzhanov, R; Salayev, K; Jones, WD; Caballero, AP; McGavin, L; Spiller, M; Durkie, M; Wood, N; O'Grady, L; Goldenberg, P; Neumeyer, AM; Begtrup, A; Abdel-Ghafar, SF; Zaki, MS; Van Esch, H; Posey, JE; Wenger, OK; Scott, EM; Bujakowska, KM; Gibbs, RA; Pehlivan, D; Marafi, D; Leslie, JS; Ubeyratna, N; Day, J; Owens, M; Settle, J; Balkhy, S; Tamim, A; Alabdi, L; Alkuraya, FS; Takeda, Y; Freeze, HH; Hebert, DN; Lupski, JR; Crosby, AH; Baple, EL
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errSave
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-04-01
err2
errOAAI
errPan, Xueyang; Tao, Alice M.; Lu, Shenzhao; Ma, Mengqi; Hannan, Shabab B.; Slaugh, Rachel; Williams, Sarah Drewes; O'Grady, Lauren; Kanca, Oguz; Person, Richard; Carter, Melissa T.; Platzer, Konrad; Schnabel, Franziska; Abou Jamra, Rami; Roberts, Amy E.; Newburger, Jane W.; Revah-Politi, Anya; Granadillo, Jorge L.; Stegmann, Alexander P. A.; Sinnema, Margje; Accogli, Andrea; Salpietro, Vincenzo; Capra, Valeria; Ghaloul-Gonzalez, Lina; Brueckner, Martina; Simon, Marleen E. H.; Sweetser, David A.; Glinton, Kevin E.; Kirk, Susan E.; Wangler, Michael F.; Yamamoto, Shinya; Chung, Wendy K.; Bellen, Hugo J.
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errSave
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-01-01
err8
errOAAI
errTorene, Rebecca I.; Sacoto, Maria J. Guillen; Millan, Francisca; Zhang, Zhancheng; Mcgee, Stephen; Oetjens, Matthew; Heise, Elizabeth; Chong, Karen; Sidlow, Richard; O'Grady, Lauren; Sahai, Inderneel; Martin, Christa L.; Ledbetter, David H.; Myers, Scott M.; Mitchell, Kevin J.; Retterer, Kyle
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errSave
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability
errHUMAN MUTATION
IF3.7
err2021-05-11
err19
errOAAI
errNeuser, Sonja; Brechmann, Barbara; Heimer, Gali; Broesse, Ines; Schubert, Susanna; O'Grady, Lauren; Zech, Michael; Srivastava, Siddharth; Sweetser, David A.; Dincer, Yasemin; Mall, Volker; Winkelmann, Juliane; Behrends, Christian; Darras, Basil T.; Graham, Robert J.; Jayakar, Parul; Byrne, Barry; Bar-Aluma, Bat El; Haberman, Yael; Szeinberg, Amir; Aldhalaan, Hesham M.; Hashem, Mais; Al Tenaiji, Amal; Ismayl, Omar; Al Nuaimi, Asma E.; Maher, Karima; Ibrahim, Shahnaz; Khan, Fatima; Houlden, Henry; Ramakumaran, Vijayalakshmi S.; Pagnamenta, Alistair T.; Posey, Jennifer E.; Lupski, James R.; Tan, Wen-Hann; ElGhazali, Gehad; Herman, Isabella; Munoz, Tatiana; Repetto, Gabriela M.; Seitz, Angelika; Krumbiegel, Mandy; Poli, Maria Cecilia; Kini, Usha; Efthymiou, Stephanie; Meiler, Jens; Maroofian, Reza; Alkuraya, Fowzan S.; Abou Jamra, Rami; Popp, Bernt; Ben-Zeev, Bruria; Ebrahimi-Fakhari, Darius
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errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
R
Richard A. Gibbs
H-index: 190 · Papers: 1.3K
J
James R. Lupski
H-index: 144 · Papers: 1.1K
N
Nicholas Wood
H-index: 139 · Papers: 1.1W
J
Jane W. Newburger
H-index: 132 · Papers: 810
H
Henry Houlden
H-index: 120 · Papers: 1.5K
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