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Bryn D. Webb

university of wisconsin school of medicine and public health

21H-index
84Paper Count
1.9KCitation Count
Published Papers 34
Publication Date
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USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes
errClinical Genetics
IF2.3
err2026-06-18
err0
errOAAI
errHelena Wigoda; Amjad Khan; Bryce A. Mendelsohn; Noriko Miyake; Nobuhiko Okamoto; Naomichi Matsumoto; Patricia J. C. Knijnenburg; Johanna M. van Hagen; Jiddeke van de Kamp; Quinten Waisfisz; Bryn D. Webb
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Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases
errBrain Communications
IF4.5
err2025-09-01
err0
errOAAI
errNatalia Juliá-Palacios; Gerard Muñoz-Pujol; Reza Maroofian; Aida M Bertoli-Avella; Marta Gómez-Chiari; Jordi Muchart-López; Abraham J Paredes-Fuentes; Mar O’Callaghan; Irene S Machado-Casas; Ingrid Cristian; Jennifer Morrison; Angels Garcia-Cazorla; Anna Codina; Mohammad Miryounesi; Emir Zonic; Peter Bauer; Huma Cheema; Muhammad Nadeem Anjum; Nouriya Al-Sannaa; Marwa Abd Elmaksoud; Faroug Ababneh; Sahar Alijanpour; Seyed Hassan Tonekaboni; Afshin Fayazi; Maria Urbaniak; Uxía Barba; Janet Hoenicka; Francesc Palau; Henry Houlden; Juan Darío Ortigoza-Escobar; Antonia Ribes; Carlos Santos-Ocaña; Millie Tyler; Patrick Gaffney; Christopher J Carroll; Frederic Tort; Klaas J Wierenga; Bryn D Webb; Rafael Artuch; Heidy Baide-Mairena; Roser Urreizti
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Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-01-01
err0
errOAAI
errZerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D.; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D.; Ruiz, Anna; Manso-Basuz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L.; Vilain, Eric; Arnadottir, Gudny A.; Sulem, Patrick; Sulem, Telma S.; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M.; Valentine, Rozalia; Trowbridge, Sara K.; Murali, Chaya N.; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D.; Keppler-Noreuil, Kim M.; Hall, April L.; Mcgivern, Bobbi; Monaghan, Kristin G.; Sacoto, Maria J. Guillen; Baldridge, Dustin; Silverman, Gary A.; Dahiya, Sonika; Turner, Tychele N.; Schedl, Tim; Corbin, Joshua G.; Pak, Stephen C.; Zohn, Irene E.; Gurnett, Christina A.
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errSave
An algorithm to identify patients aged 0-3 with rare genetic disorders
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2024-05-02
err0
errOAAI
errWebb, Bryn D.; Lau, Lisa Y.; Tsevdos, Despina; Shewcraft, Ryan A.; Corrigan, David; Shi, Lisong; Lee, Seungwoo; Tyler, Jonathan; Li, Shilong; Wang, Zichen; Stolovitzky, Gustavo; Edelmann, Lisa; Chen, Rong; Schadt, Eric E.; Li, Li
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Inability to move one's face dampens facial expression perception
errCORTEX
IF3.3
err2023-12-01
err3
errOAAI
errJapee, Shruti; Jordan, Jessica; Licht, Judith; Lokey, Savannah; Chen, Gang; Snow, Joseph; Jabs, Ethylin Wang; Webb, Bryn D.; Engle, Elizabeth C.; Manoli, Irini; Baker, Chris; Ungerleider, Leslie G.
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errSave
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
errNATURE GENETICS
IF31.8
err2023-06-29
err7
errOAAI
errTenney, Alan P.; Di Gioia, Silvio Alessandro; Webb, Bryn D.; Chan, Wai-Man; de Boer, Elke; Garnai, Sarah J.; Barry, Brenda J.; Ray, Tammy; Kosicki, Michael; Robson, Caroline D.; Zhang, Zhongyang; Collins, Thomas E.; Gelber, Alon; Pratt, Brandon M.; Fujiwara, Yuko; Varshney, Arushi; Lek, Monkol; Warburton, Peter E.; Van Ryzin, Carol; Lehky, Tanya J.; Zalewski, Christopher; King, Kelly A.; Brewer, Carmen C.; Thurm, Audrey; Snow, Joseph; Facio, Flavia M.; Narisu, Narisu; Bonnycastle, Lori L.; Swift, Amy; Chines, Peter S.; Bell, Jessica L.; Mohan, Suresh; Whitman, Mary C.; Staffieri, Sandra E.; Elder, James E.; Demer, Joseph L.; Torres, Alcy; Rachid, Elza; Al-Haddad, Christiane; Boustany, Rose-Mary; Mackey, David A.; Brady, Angela F.; Fenollar-Cortes, Maria; Fradin, Melanie; Kleefstra, Tjitske; Padberg, George W.; Raskin, Salmo; Sato, Mario Teruo; Orkin, Stuart H.; Parker, Stephen C. J.; Hadlock, Tessa A.; Vissers, Lisenka E. L. M.; van Bokhoven, Hans; Jabs, Ethylin Wang; Collins, Francis S.; Pennacchio, Len A.; Manoli, Irini; Engle, Elizabeth C.
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Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency
errELIFE
IF0
err2023-03-07
err2
errOAAI
errWebb, Bryn D.; Nowinski, Sara M.; Solmonson, Ashley; Ganesh, Jaya; Rodenburg, Richard J.; Leandro, Joao; Evans, Anthony; Vu, Hieu S.; Naidich, Thomas P.; Gelb, Bruce D.; DeBerardinis, Ralph J.; Rutter, Jared; Houten, Sander M.
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Exon level array utility in follow up to identification of copy number variants on expanded carrier screening
errGENETICS IN MEDICINE
IF6.2
err2022-03-01
err0
errOAAI
errAptekar, Leslie; Lagoe, Erin Caine; Shaw, Jay; Sotile, Caroline; Ilg, Daniel; Van den Berg, Saskia; Jiang, Yanjun; Punetha, Jaya; Webb, Bryn; Shi, Lisong; Kornreich, Ruth; Zimmerman, Rebekah; Edelmann, Lisa
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errSave
Comparison of genetic ancestry to self-reported ethnicity and impact upon residual risk following expanded carrier screening
errGENETICS IN MEDICINE
IF6.2
err2022-03-01
err0
errOAAI
errBirch, Ashley; Machado, Moara; Webb, Bryn; Zimmerman, Rebekah; Kornreich, Ruth; Edelmann, Lisa
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errSave
Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly
errGENETICS IN MEDICINE
IF6.2
err2021-11-01
err13
errOAAI
errMorrison, Jennifer; Altuwaijri, Norah K.; Bronstad, Kirsten; Aksnes, Henriette; Alsaif, Hessa S.; Evans, Anthony; Hashem, Mais; Wheeler, Patricia G.; Webb, Bryn D.; Alkuraya, Fowzan S.; Arnesen, Thomas
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TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
errHUMAN GENETICS
IF3.6
err2021-10-15
err15
errOAAI
errWhitman, Mary C.; Barry, Brenda J.; Robson, Caroline D.; Facio, Flavia M.; Van Ryzin, Carol; Chan, Wai-Man; Lehky, Tanya J.; Thurm, Audrey; Zalewski, Christopher; King, Kelly A.; Brewer, Carmen; Almpani, Konstantinia; Lee, Janice S.; Delaney, Angela; FitzGibbon, Edmond J.; Lee, Paul R.; Toro, Camilo; Paul, Scott M.; Abdul-Rahman, Omar A.; Webb, Bryn D.; Jabs, Ethylin Wang; Moller, Hans Ulrik; Larsen, Dorte Ancher; Antony, Jayne H.; Troedson, Christopher; Ma, Alan; Ragnhild, Glad; Wirgenes, Katrine, V; Tham, Emma; Kvarnung, Malin; Maarup, Timothy James; MacKinnon, Sarah; Hunter, David G.; Collins, Francis S.; Manoli, Irini; Engle, Elizabeth C.
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errSave
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor
errHUMAN MUTATION
IF3.7
err2021-04-15
err1
errOAAI
errWebb, Bryn D.; Evans, Anthony; Naidich, Thomas P.; Bird, Lynne M.; Parikh, Sumit; Garcia, Meilin Fernandez; Henderson, Lindsay B.; Millan, Francisca; Si, Yue; Brennand, Kristen J.; Hung, Peter; Rucker, Janet C.; Wheeler, Patricia G.; Schadt, Eric E.
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Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2021-04-12
err18
errOAAI
errWebb, Bryn D.; Hotchkiss, Hilary; Prasun, Pankaj; Gelb, Bruce D.; Satlin, Lisa
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errSave
A framework for the evaluation of patients with congenital facial weakness
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2021-04-07
err4
errOAAI
errWebb, Bryn D.; Manoli, Irini; Engle, Elizabeth C.; Jabs, Ethylin W.
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errSave
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function
errIMMUNITY
IF26.3
err2020-09-01
err81
errOAAI
errGruber, Conor N.; Calis, Jorg J. A.; Buta, Sofija; Evrony, Gilad; Martin, Jerome C.; Uhl, Skyler A.; Caron, Rachel; Jarchin, Lauren; Dunkin, David; Phelps, Robert; Webb, Bryn D.; Saland, Jeffrey M.; Merad, Miriam; Orange, Jordan S.; Mace, Emily M.; Rosenberg, Brad R.; Gelb, Bruce D.; Bogunovic, Dusan
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errSave
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
errBRAIN
IF11.7
err2020-08-06
err19
errOAAI
errSchneeberger, Pauline E.; Kortum, Fanny; Korenke, Georg Christoph; Alawi, Malik; Santer, Rene; Woidy, Mathias; Buhas, Daniela; Fox, Stephanie; Juusola, Jane; Alfadhel, Majid; Webb, Bryn D.; Coci, Emanuele G.; Abou Jamra, Rami; Siekmeyer, Manuela; Biskup, Saskia; Heller, Corina; Maier, Esther M.; Javaher-Haghighi, Poupak; Bedeschi, Maria F.; Ajmone, Paola F.; Iascone, Maria; Peeters, Hilde; Ballon, Katleen; Jaeken, Jaak; Rodriguez Alonso, Aroa; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Meuwissen, Marije E. C.; Beysen, Diane; Kooy, R. Frank; Houlden, Henry; Murphy, David; Doosti, Mohammad; Karimiani, Ehsan; Mojarrad, Majid; Maroofian, Reza; Noskova, Lenka; Kmoch, Stanislav; Honzik, Tomas; Cope, Heidi; Sanchez-Valle, Amarilis; Gelb, Bruce D.; Kurth, Ingo; Hempel, Maja; Kutsche, Kerstin
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Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry
errBRAIN COMMUNICATIONS
IF4.5
err2020-02-14
err9
errOAAI
errSadeghi, Neda; Hutchinson, Elizabeth; Van Ryzin, Carol; FitzGibbon, Edmond J.; Butman, John A.; Webb, Bryn D.; Facio, Flavia; Brooks, Brian P.; Collins, Francis S.; Jabs, Ethylin Wang; Engle, Elizabeth C.; Manoli, Irini; Pierpaoli, Carlo
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Broad spectrum of clinical presentation in EARS2 beyond typical leukoencephalopathy with thalamus and brain stem involvement
errJOURNAL OF THE NEUROLOGICAL SCIENCES
IF3.2
err2019-11-01
err6
errOAAI
errPrasun, Pankaj; Mintz, Cassie; Cork, Emalyn; Naidich, Thomas P.; Webb, Bryn D.
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errSave
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients (vol 28, 64, 2020)
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2019-04-12
err2
errOAAI
errUrreizti, Roser; Mayer, Klaus; Evrony, Gilad D.; Said, Edith; Castilla-Vallmanya, Laura; Cody, Neal A. L.; Plasencia, Guillem; Gelb, Bruce D.; Grinberg, Daniel; Brinkmann, Ulrich; Webb, Bryn D.; Balcells, Susanna
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DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2019-03-15
err17
errOAAI
errUrreizti, Roser; Mayer, Klaus; Evrony, Gilad D.; Said, Edith; Castilla-Vallmanya, Laura; Cody, Neal A. L.; Plasencia, Guillem; Gelb, Bruce D.; Grinberg, Daniel; Brinkmann, Ulrich; Webb, Bryn D.; Balcells, Susanna
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errSave

Research Directions

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Co-authors
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