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Brendan C. Lanpher, M.D.

  1. Medical Geneticist
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Publications

  1. Klee E, Lanpher BC, Lanza IR, Liu P, Mao R, Oglesbee D, Schimmenti L, Tan Q, Wood H, Zhang Z, Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH, Bademci G, Tekin M, Undiagnosed Diseases Network NIH. KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3. J Med Genet. 2024 Dec 11 [Epub ahead of print]
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  2. Osundiji MA, Kahn E, Lanpher B. A familial chromosome 4p16.3 terminal microdeletion that does not cause Wolf-Hirschhorn (4p-) syndrome. Chromosome Res. 2024 Nov 7; 32 (4):13 Epub 2024 Nov 07
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  3. Padilla H, Pinto E Vairo F, Wirrell EC, Wong-Kisiel LC, Fine AL, Lanpher BC, Smith KM. CHD2-related epilepsy with eyelid myoclonia: Report of three cases. Epileptic Disord. 2024 Nov 6 Epub 2024 Nov 06
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  4. Hahn S, Kennedy J, Lanza IR, Liu P, Mao R, Merritt JL, Morava E, Oglesbee D, Zhang Z, Lanpher BC, Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO, Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, Wunsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatr Neurol. 2024 Nov; 160:45-53 Epub 2024 July 20
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  5. Lanpher BC, Lanza IR, Liu P, Mao R, Morava E, Oglesbee D, Zhang Z, Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H, Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov; 26 (11):101218 Epub 2024 July 19
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  6. McNamee L, Schoch K, Huang A, Lee H, Wang LK, Smith EC, Lark RK, Buckley AF, Jobanputra V, Nelson SF, Shashi V, Undiagnosed Diseases Network. Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy. Am J Med Genet A. 2024 Nov; 194(11):e63798. Epub 2024 Jun 24.
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  7. Borja NA, Tinker RJ, Bivona SA, Smith CA, Locker TK, Fernandes S, Undiagnosed Diseases Network, Phillips JA 3rd, Stoler J, Taylor H, Zuchner S, Tekin M. Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network. Am J Med Genet A. 2024 Oct 14; e63904. [Epub ahead of print]
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  8. Lanpher BC, Lanza IR, Liu P, Mao R, Morava E, Oglesbee D, Wood H, Zhang Z, Mulvihill JJ, Findley L, Ni W, Sinsheimer JS, Cole FS, Esteves C, Bernstein JA, Newman JH, Wheeler MT, Mokry JR. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones. Genet Med. 2024 Oct; 26 (10):101203 Epub 2024 July 02
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  9. Lanpher BC, Liu P, Zhang Z, Lanza IR, Morava E, Oglesbee D, Wood H, Mao R, Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A, Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities. Genet Med. 2024 Sep; 26 (9):101174 Epub 2024 June 03
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  10. Lanza IR, Liu P, Mao R, Morava E, Oglesbee D, Sharma P, Zhang Z, Lanpher BC, Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA, Liu B, Majer O, Barton GM. Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans. J Exp Med. 2024 Aug 5; 221 (8) Epub 2024 May 23
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  11. Stellacci E, Carter JN, Pannone L, Stevenson D, Moslehi D, Venanzi S, Undiagnosed Diseases Network, Bernstein JA, Tartaglia M, Martinelli S. Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant. Am J Med Genet A. 2024 Aug; 194(8):e63627. Epub 2024 Apr 12.
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  12. Lanpher B, Fisher L, Friedman J, Klee EW, Patterson J, Schultz-Rogers L, Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN, Alders M, Robertson SP, Sadikovic B, Menke LA. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles. HGG Adv. 2024 Jul 18; 5 (3):100287 Epub 2024 Mar 29
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  13. Ezell KM, Tinker RJ, Furuta Y, Gulsevin A, Bastarache L, Hamid R, Cogan JD, Rives L, Neumann S, Corner B, Kozuria M, Phillips JA 3rd, Undiagnosed Diseases Network. Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant. Am J Med Genet A. 2024 Jul; 194(7):e63597. Epub 2024 Mar 21.
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  14. Lanpher BC, Lanza IR, Liu P, Mao R, Morava E, Oglesbee D, Zhang Z, Pucel J, Briere LC, Reuter C, Gochyyev P, LeBlanc K. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis. Genet Med. 2024 Jun; 26 (6):101115 Epub 2024 Mar 01
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  15. Ferrer A, Duffy P, Olson RJ, Meiners MA, Schultz-Rogers L, Macke EL, Safgren S, Morales-Rosado JA, Cousin MA, Oliver GR, Rider D, Williams M, Pichurin PN, Deyle DR, Morava E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Kaiwar C, Vitek CR, McAllister TM, Wick MJ, Schimmenti LA, Lazaridis KN, Vairo FPE, Klee EW. Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data. Hum Genet. 2024 May; 143 (5):649-666 Epub 2024 Mar 27
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  16. Lanpher BC, Lanza IR, Liu P, Mao R, Morava E, Oglesbee D, Sharma P, Zhang Z, Dohrn MF, Bademci G, Rebelo AP, Jeanne M, Borja NA, Beijer D, Danzi MC, Bivona SA, Gueguen P, Zafeer MF, Tekin M, Zuchner S. Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism. Ann Clin Transl Neurol. 2024 Apr; 11 (4):1075-1079 Epub 2024 Mar 19
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  17. Lanpher BC, Lanza IR, Liu P, Mao R, Morava E, Oglesbee D, Sharma P, Zhang Z, Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P, Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. De novo variants in DENND5B cause a neurodevelopmental disorder. Am J Hum Genet. 2024 Mar 7; 111 (3):529-543 Epub 2024 Feb 21
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  18. Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz O, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A, Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC, TUDP consortium. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ Genom Med. 2024 Mar 1; 9 (1):18 Epub 2024 Mar 01
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  19. Lanpher BC, Lanza IR, Liu P, Mao R, Morava E, Oglesbee D, Sharma P, Zhang Z, Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR, Mammen AL, Wheeler MT, O'Donnell-Luria A, Bonnemann CG. Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Ann Clin Transl Neurol. 2024 Mar; 11 (3):629-640 Epub 2024 Feb 04
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  20. Lim D, Campbell J, Daugherty LC, Hackett JM, Henderson S, Smith KR, Hahn S, Johnston JM, Kennedy J, Lanza IR, Liu P, Mao R, Merritt JL, Morava E, Oglesbee D, Sharma P, Zhao C, Lanpher BC, Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W, Khokha MK, Bonnemann CG, Lucas CL, Lakhani SA. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. Genet Med. 2024 Feb; 26 (2):101023 Epub 2023 Nov 07
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  21. Lanpher BC, Hahn S, Lanza IR, Liu P, Mao R, Merritt JL, Morava E, Oglesbee D, Zhang Z, Lu J, Toro C, Adams DR, Moreno CAM, Lee WP, Leung YY, Harms MB, Vardarajan B, Heinzen EL. LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants. BMC Genomics. 2024 Jan 26; 25 (1):115
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  22. Hahn S, Lanza IR, Liu P, Mao R, Merritt JL, Morava E, Oglesbee D, Zhang Z, Lanpher BC, Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomme-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Bacino CA, Lee BH, Chao HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Jan 4; 111 (1):96-118
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  23. Lanpher BC, Hahn S, Lanza IR, Liu P, Mao R, Merritt JL, Morava E, Oglesbee D, Zhang Z, Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H, Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JA. De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. Am J Med Genet A. 2024 Jan; 194 (1):17-30 Epub 2023 Sept 25
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  24. Barman H, Sikirica V, Carlson K, Silvert E, Carlson KB, Boyer S, Glaser R, Morava E, Wagner T, Lanpher B. Retrospective study of propionic acidemia using natural language processing in Mayo Clinic electronic health record data. Mol Genet Metab. 2023 Nov; 140 (3):107695 Epub 2023 Sept 02
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  25. Lanpher BC, Kennedy J, Lanza IR, Liu P, Mao R, Morava E, Oglesbee D, Zhang Z, Mohajeri A, Vaseghi-Shanjani M, Rosenfeld JA, Yang GX, Lu H, Sharma M, Lin S, Salman A, Waqas M, Sababi Azamian M, Worley KC, Del Bel KL, Kozak FK, Rahmanian R, Biggs CM, Hildebrand KJ, Lalani SR, Nicholas SK, Scott DA, Mostafavi S, van Karnebeek C, Henkelman E, Halparin J, Yang CL, Armstrong L, Turvey SE, Lehman A. Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay. J Med Genet. 2023 Nov; 60 (11):1092-1104 Epub 2023 June 14
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  26. Hahn S, Kennedy J, Lanza IR, Liu P, Mao R, Morava E, Oglesbee D, Zhang Z, Zhao C, Lanpher BC, Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Ploski R, Pienkowski VM, Klosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Ades L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D, van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Macrocephaly and developmental delay caused by missense variants in RAB5C. Hum Mol Genet. 2023 Oct 17; 32 (21):3063-3077
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  27. Lanpher BC, Hahn S, Lanza IR, Liu P, Mao R, Merritt JL, Morava E, Oglesbee D, Zhang Z, Halley MC, Young JL, Tang C, Mintz KT, Lucas-Griffin S, Maghiro A, Ashley EA, Tabor HK. Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care. J Pediatr. 2023 Oct; 261:113537 Epub 2023 June 02
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  28. Lanpher BC, Chang P, Hahn S, Kennedy J, Lanza IR, Liu P, Mao R, Merritt JL, Morava E, Oglesbee D, Zhang Z, Zhao C, McConkie-Rosell A, Spillmann RC, Schoch K, Sullivan JA, Walley N, McDonald M, Hooper SR, Shashi V. Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors. J Genet Couns. 2023 Oct; 32 (5):993-1008 Epub 2023 Apr 02
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  29. Pillai NR, Fabie NAV, Kaye TV, Rosendahl SD, Ahmed A, Hietala AD, Jorgenson AB, Lanpher BC, Whitley CB. Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening. Mol Genet Metab. 2023 Sep-Oct; 140 (1-2):107633 Epub 2023 June 25
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  30. Lanpher BC, Hahn S, Lanza IR, Liu P, Mao R, Merritt JL, Morava E, Oglesbee D, Zhang Z, Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C, Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy. Genet Med. 2023 Sep; 25 (9):100897 Epub 2023 May 13
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  31. Henderson S, Smith SC, Lanza IR, Liu P, Mao R, Morava E, Oglesbee D, Sharma P, Zhang Z, Lanpher BC, Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D, Elgersma Y, van Esbroeck ACM. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. Am J Hum Genet. 2023 Aug 3; 110 (8):1414-1435
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  32. Hahn S, Lanza IR, Liu P, Mao R, Merritt JL, Morava E, Oglesbee D, Zhang Z, Lanpher BC, Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J, Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. De novo missense variants in phosphatidylinositol kinase PIP5KIgamma underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling. Am J Hum Genet. 2023 Aug 3; 110 (8):1377-1393 Epub 2023 July 13
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  33. Lanpher BC, Hahn S, Kennedy J, Lanza IR, Liu P, Mao R, Merritt JL, Morava E, Oglesbee D, Yousef M, Zhao C, Borja N, Borjas-Mendoza P, Bivona S, Peart L, Gonzalez J, Johnson BK, Guo S, Yusupov R, Bademci G, Tekin M. H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome. Am J Med Genet A. 2023 Jul; 191 (7):1911-1916 Epub 2023 Mar 29
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  34. Lanpher BC, Wang G, Hahn S, Lanza IR, Liu P, Mao R, Merritt JL, Morava E, Oglesbee D, Zhang Z, Pujol-Gimenez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M, Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome. Ann Clin Transl Neurol. 2023 Jun; 10 (6):1046-1053 Epub 2023 May 16
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  35. Hahn S, Kennedy J, Lanza IR, Liu P, Mao R, Merritt JL, Morava E, Oglesbee D, Zhang Z, Lanpher BC, Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell BE, Wang LK, Nelson SF, Bellen HJ, Yamamoto S, Malicdan MCV, Wangler MF. De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. Genet Med. 2023 Jun; 25 (6):100833 Epub 2023 Mar 31
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  36. Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES, Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Am J Hum Genet. 2023 May 04; 110(5):774-789. Epub 2023 Apr 12.
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  37. Lanpher BC, Liu P, Lanza IR, Morava E, Oglesbee D, Yousef M, Hahn S, Merritt JL, Zhao C, Mao R, Kennedy J, Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC, Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. Brain. 2023 Apr 19; 146 (4):1420-1435
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  38. Lanpher BC, Hahn S, Kennedy J, Lanza IR, Liu P, Mao R, Merritt JL, Morava E, Oglesbee D, Zhang Z, Rosenfeld LE, LeBlanc K, Nagy A, Ego BK, McCray AT. Participation in a national diagnostic research study: assessing the patient experience. Orphanet J Rare Dis. 2023 Apr 10; 18 (1):73
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  39. Lanpher BC, Hahn S, Kennedy J, Lanza IR, Liu P, Mao R, Merritt JL, Morava E, Oglesbee D, Zhang Z, Zhao C, Spillmann RC, Tan QK, Reuter C, Schoch K, Kohler J, Bonner D, Zastrow D, Alkelai A, Baugh E, Cope H, Marwaha S, Wheeler MT, Bernstein JA, Shashi V. A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network. Genet Med. 2023 Apr; 25 (4):100353 Epub 2022 Dec 05
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  40. Hahn S, Kennedy J, Lanza IR, Liu P, Mao R, Merritt JL, Morava E, Oglesbee D, Zhang Z, Lanpher BC, Morimoto M, Bhambhani V, Gazzaz N, Davids M, Sathiyaseelan P, Macnamara EF, Lange J, Lehman A, Zerfas PM, Murphy JL, Acosta MT, Wang C, Alderman E, Reichert S, Thurm A, Adams DR, Introne WJ, Gorski SM, Boerkoel CF, Gahl WA, Tifft CJ, Malicdan MCV. Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment. NPJ Genom Med. 2023 Feb 10; 8 (1):4
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  41. Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Impact of integrated translational research on clinical exome sequencing. Genet Med. 2023 Feb; 25 (2):100359
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  42. Lanpher BC, Hahn S, Kennedy J, Lanza IR, Liu P, Mao R, Merritt JL, Morava E, Oglesbee D, Yousef M, Zhang Z, Zhao C, Miller IM, Yashar BM, Macnamara EF. Continuing a search for a diagnosis: the impact of adolescence and family dynamics. Orphanet J Rare Dis. 2023 Jan 9; 18 (1):6 Epub 2023 Jan 09
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  43. Thompson WS, Greenmyer JR, Lanpher BC, Brumbaugh JE, Bendel-Stenzel EM, Dimmock DP, Hobbs CA, Ibrahim SH, Hildreth AN. Ultra-rapid whole genome sequencing: A paradigm shift in the pre-transplant evaluation of neonatal acute liver failure. Liver Transpl. 2023 Jan 1; 29 (1):118-121 Epub 2022 Aug 21
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  44. Asumda FZ, Kraker JA, Thomas SC, Maleszewski J, Stone EM, Lanpher BC, Schimmenti LA. Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report. Ther Adv Rare Dis. 2023 Jan-Dec; 4:26330040221145945 Epub 2023 Jan 12
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  45. Thompson WS, Bendel-Stenzel EM, Lanpher BC, Arteaga GM, Stetson RC, Mavis SC. Neonatal Diagnosis of Alveolar Capillary Dysplasia via Rapid Genomic Sequencing: A New Gold Standard? Neonatology. 2023; 120 (3):395-399 Epub 2023 Mar 21
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  46. MacArthur TA, Ongie LJ, Lanpher BC, Ishitani MB. Pediatric manifestations of Lynch Syndrome: A single center experience. J Pediatr Surg Case Rep. 2022 Nov; 86. Epub 2022 Aug 26.
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