Laboratory Publications

Harb JF, Christensen CL, Kan SH, Rha AK, Andrade-Heckman P, Pollard L, Steet R, Huang JY, Wang RY. Base editing corrects the common Salla disease SLC17A5 c.115C>T variant. Mol Ther Nucleic Acids. 2023 Aug 26;34:102022. doi: 10.1016/j.omtn.2023.08.024. eCollection 2023 Dec 12. PMID: 37727271 Free PMC article.

Hilton B. Bench to Bedside: Rapid Leber Hereditary Optic Neuropathy Diagnosis.  J Mol Diagn. 2023 Aug;25(8):536-539. doi: 10.1016/j.jmoldx.2023.06.001. PMID: 37517823 No abstract available.

Claus LR, Chen C, Stallworth J, Turner JL, Slaats G, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E; Genomics England Research Consortium; Larsen M, Hertz JM, Lilien MR, Obeidová L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CM, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R. Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease. Kidney Int. 2023 Aug 18:S0085-2538(23)00559-8. doi: 10.1016/j.kint.2023.07.021. Online ahead of print. PMID: 37598857

Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson W, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC. Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations. J Med Genet. 2023 Aug 14:jmg-2022-109030. doi: 10.1136/jmg-2022-109030. Online ahead of print. PMID: 37580113

Sajan SA, Brown CM, Davis-Keppen L, Burns K, Royer E, Coleman JAC, Hilton BA, DuPont BR, Perry DL, Taft RJ, Kesari A. The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development. Am J Med Genet A. 2023 Aug 8. doi: 10.1002/ajmg.a.63367. Online ahead of print. PMID: 37551848

Xiaolan Fang, Benjamin Hilton, Katie Clarkson, R Curtis Rogers, Richard Schroer, Anna Childers, Wesley G Patterson, Jessica M Davis, David B Everman, Barbara DuPont. Large chromosome 2p duplication-associated mechanisms and clinical presentations. Cytogenet Genome Res. 2023 Jul 27. doi: 10.1159/000533218. Online ahead of print. PMID: 37497920  DOI: 10.1159/000533218

Farrell CL, Goodbar N, McCaslan M, Moore H, Lee JA, Wu J, Messersmith A. Assessing the pharmacy students’ knowledge of genetic counseling with genetic variants that are associated with inherited disease. Curr Pharm Teach Learn. 2023 Jul 26:S1877-1297(23)00182-X. doi: 10.1016/j.cptl.2023.07.006. Online ahead of print. PMID: 37507313

Kubaski F, Sousa I, Amorim T, Pereira D, Silva C, Chaves V, Brusius-Facchin AC, Netto ABO, Soares J, Vairo F, Poletto E, Trometer J, Souza A, Ranieri E, Polo G, Hong X, Herbst ZM, Burlina A, Gelb MH, Giugliani R. Pilot study of newborn screening for six lysosomal diseases in Brazil.  Mol Genet Metab. 2023 Jul 13:107654. doi: 10.1016/j.ymgme.2023.107654. Online ahead of print. PMID: 37507255

Sahajpal NS, Jeffrey DHF, DuPont BR, Hilton B. 17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation. Mol Cytogenet. 2023 Jul 10;16(1):15. doi: 10.1186/s13039-023-00644-2. PMID: 37430334

Herbst ZM, Hong X, Urdaneta L, Klein T, Waggoner C, Liao HC, Kubaski F, Giugliani R, Fuller M, Gelb MH. Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis. Mol Genet Metab. 2023 Jun 24:107632. doi: 10.1016/j.ymgme.2023.107632. Online ahead of print. PMID: 37407323

Nikhil Shri Sahajpal, Ashis K Mondal, Harmanpreet Singh, Ashutosh Vashisht, Sudha Ananth, Daniel Saul, Alex R Hastie, Benjamin Hilton, Barbara R DuPont, Natasha M Savage, Vamsi Kota, Alka Chaubey, Jorge E Cortes, Ravindra Kolhe. Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers. Cancers (Basel). 2023 Jun 16;15(12):3214. doi: 10.3390/cancers15123214. PMID: 37370824 DOI: 10.3390/cancers15123214

Niels Vos, Jack Reilly, Mariet W Elting, Philippe M Campeau, David Coman, Zornitza Stark, Tiong Yang Tan, David J Amor, Simran Kaur, Miya St John, Angela T Morgan, Benjamin A Kamien, Chirag Patel, Matthew L Tedder, Giuseppe Merla, Paolo Prontera, Marco Castori, Kai Muru, Felicity Collins, John Christodoulou, Janine Smith, Bruria Ben Zeev, Alessandra Murgia, Emanuela Leonardi, Natacha Esber, Antonio Martinez-Monseny, Didac Casas-Alba, Matthew Wallis, Marcel Mannens, Michael A Levy, Raissa Relator, Marielle Alders, Bekim Sadikovic. DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/ KAT6B variants. Epigenomics. 2023 May 30. doi: 10.2217/epi-2023-0079. Online ahead of print. PMID: 37249002  DOI: 10.2217/epi-2023-0079

Bridgette A Moffitt, Lindsay M Oberman, Laura Beamer, Sujata Srikanth, Lavanya Jain, Lauren Cascio, Kelly Jones, Rini Pauly, Melanie May, Cindy Skinner, Caroline Buchanan, Barbara R DuPont, Walter E Kaufmann, Kathleen Valentine, Linda D Ward, Diana Ivankovic, R Curtis Rogers, Katy Phelan, Sara M Sarasua, Luigi Boccuto. Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals. Clin Genet. 2023 May 18. doi: 10.1111/cge.14361. Online ahead of print. PMID: 37198960  DOI: 10.1111/cge.14361

Cooley Coleman JA, Gass JM, Srikanth S, Pauly R, Ziats CA, Everman DB, Skinner SA, Bell S, Louie RJ, Cascio L, Patterson WG, Jones JR, Di Donato N, Stevenson RE, Boccuto L. Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders. Hum Mol Genet. 2023 Apr 20;32(9):1457-1465. doi: 10.1093/hmg/ddac296. PMID: 36458889

Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argilli E, Sherr EH, Dobyns WB; Genomics England Research Consortium; Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A. ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy. Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330. PMID: 36074901

Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Geneviève D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 Apr 12:S0002-9297(23)00100-3. doi: 10.1016/j.ajhg.2023.03.016. Online ahead of print. PMID: 37071997

Washington C, Stolerman ES, Cooley-Coleman JA, Jones JR, Chen-Deutsch X. RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy. Clin Case Rep. 2023 Apr 7;11(4):e7165. doi: 10.1002/ccr3.7165. eCollection 2023 Apr. PMID: 37038535

Caylor RC. Nonrandom X Chromosome Inactivation Detection. Curr Protoc. 2023 Apr;3(4):e748. doi: 10.1002/cpz1.748. PMID: 37074091

Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, Pelin Ozlem Simsek-Kiper, Sarah M Nikkel, Hirofumi Ohashi, Roger E Stevenson, Thuong Ha, Denise P Cavalcanti, Hiroyuki Miyahara, Steven A Skinner, Miguel A Aguirre, Zühal Akçören, Gulen Eda Utine, Tillie Chiu, Kenji Shimizu, Anna Hammarsjö, Koray Boduroglu, Hannah W Moore, Raymond J Louie, Peer Arts, Allie N Merrihew, Milena Babic, Matilda R Jackson, Nikos Papadogiannakis, Anna Lindstrand, Ann Nordgren, Christopher P Barnett, Hamish S Scott, Andrei S Chagin, Gen Nishimura, Giedre Grigelioniene. Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders. J Bone Miner Res. 2023 Mar 10. doi: 10.1002/jbmr.4799. Online ahead of print. PMID: 36896612

Haghshenas S, Foroutan A, Bhai P, Levy MA, Relator R, Kerkhof J, McConkey H, Skinner CD, Caylor RC, Tedder ML, Stevenson RE, Sadikovic B, Schwartz CE. Identification of a DNA methylation signature for renpenning syndrome (RENS1), a spliceopathy. Eur J Hum Genet. 2023 Feb 16. doi: 10.1038/s41431-023-01313-z. Online ahead of print. PMID: 36797465

Sahajpal NS, Mondal AK, Fee T, Hilton B, Layman L, Hastie AR, Chaubey A, DuPont BR, Kolhe R. Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing. J Mol Diagn. 2023 Feb 7:S1525-1578(23)00022-3. doi: 10.1016/j.jmoldx.2023.01.006. Online ahead of print. PMID: 36758723

Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30. PMID: 36586412

Wang J, Lichty A, Johnson J, Couick C, Moore MA, Christensen B, Howard K, Lee JA, DuPont BR, Clarkson L, Hilton BA. Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndrome.Chromosome Res. 2023 Jan 19;31(1):1. doi: 10.1007/s10577-023-09712-0. PMID: 36656404

Sahajpal NS, Hastie AR, Schieck M, Mondal AK, Felde M, van der Made CI, Chou JS, Randolph AG, Illig T, Zody MC, Brownstein CA, Beggs AH, Hoischen A, Chaubey A, Kolhe R; COVID19hostgenomesv Consortium. Genetic Predisposition to Neurological Complications in Patients with COVID-19.Biomolecules. 2023 Jan 9;13(1):133. doi: 10.3390/biom13010133. PMID: 36671517

Poswar FO, Henriques Nehm J, Kubaski F, Poletto E, Giugliani R. Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome). Ther Clin Risk Manag. 2022 Dec 22;18:1143-1155. doi: 10.2147/TCRM.S351300. eCollection 2022. PMID: 36578769

Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. Am J Hum Genet. 2022 Dec 21:S0002-9297(22)00541-9. doi: 10.1016/j.ajhg.2022.12.007. Online ahead of print. PMID: 36586412

Jet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael A Levy, Matthew L Tedder, Raymond J Louie, Robin S Fletcher, Hannah W Moore, Anna Childers, Ellyn R Farrelly, Neena L Champaigne, Michael J Lyons, David B Everman, R Curtis Rogers, Steven A Skinner, Alicia Renck, Dena R Matalon, Shelley K Dills, Berrin Monteleone, Serwet Demirdas, Alexander J M Dingemans, Laura Donker Kaat, Sharon M Kolk, Rolph Pfundt, Patrick Rump, Bekim Sadikovic, Tjitske Kleefstra, Kameryn M Butler. DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency. Genet Med. 2022 Nov 17;S1098-3600(22)00973-X. doi: 10.1016/j.gim.2022.10.004. Online ahead of print. PMID: 36399132; DOI: 10.1016/j.gim.2022.10.004

van Jaarsveld RH, Reilly J, Cornips MC, Hadders MA, Agolini E, Ahimaz P, Anyane-Yeboa K, Bellanger SA, van Binsbergen E, van den Boogaard MJ, Brischoux-Boucher E, Caylor RC, Ciolfi A, van Essen TAJ, Fontana P, Hopman S, Iascone M, Javier MM, Kamsteeg EJ, Kerkhof J, Kido J, Kim HG, Kleefstra T, Lonardo F, Lai A, Lev D, Levy MA, Lewis MES, Lichty A, Mannens MMAM, Matsumoto N, Maya I, McConkey H, Megarbane A, Michaud V, Miele E, Niceta M, Novelli A, Onesimo R, Pfundt R, Popp B, Prijoles E, Relator R, Redon S, Rots D, Rouault K, Saida K, Schieving J, Tartaglia M, Tenconi R, Uguen K, Verbeek N, Walsh CA, Yosovich K, Yuskaitis CJ, Zampino G, Sadikovic B, Alders M, Oegema R. Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature. Genet Med. 2022 Nov 1:S1098-3600(22)00942-X. doi: 10.1016/j.gim.2022.09.006. Online ahead of print. PMID: 36322151

Schwartz CE, Louie RJ, Toutain A, Skinner C, Friez MJ, Stevenson RE. X-Linked intellectual disability update 2022. Am J Med Genet A. 2022 Oct 27. doi: 10.1002/ajmg.a.63008. Online ahead of print. PMID: 36300573

DeLong K, Feigenbaum A, Pollard L, Lay A, Wood T. Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome. Mol Genet Metab Rep. 2022 Oct 7;33:100920. doi: 10.1016/j.ymgmr.2022.100920. eCollection 2022 Dec. PMID: 36245961

Colonna MB, Moss T, Mokashi S, Srikanth S, Jones JR, Foley JR, Skinner C, Lichty A, Kocur A, Wood T, Stewart TM, Casero RA, Flanagan-Steet H, Edison AS, Lyons MJ, Steet R. Functional Assessment of Homozygous ALDH18A1 Variants Reveals Alterations in Amino Acid and Antioxidant Metabolism. Hum Mol Genet. 2022 Sep 6:ddac226. doi: 10.1093/hmg/ddac226. Online ahead of print. PMID: 36067040

Baker T, Caylor R, Wang J, Kilpatrick M, Batalis N, Wolff D, Welsh C. Neuropathologic Findings in Galloway-Mowat Syndrome 3 With a Novel OSGEP Variant. J Neuropathol Exp Neurol. 2022 Sep 5:nlac077. doi: 10.1093/jnen/nlac077. Online ahead of print. PMID: 36063408

McGee SR, Rajamanickam S, Adhikari S, Falayi OC, Wilson TA, Shayota BJ, Cooley Coleman JA, Skinner C, Caylor RC, Stevenson RE, D’ Angioli Costa Quaio CR, Wilke BC, Bain JM, Anyane-Yeboa K, Brown K, Greally JM, Bijlsma EK, Ruivenkamp CAL, Politi K, Arbogast LA, Collard MW, Huggenvik JI, Elsea SH, Jensik PJ. Expansion and mechanistic insights of de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders. Hum Mol Genet. 2022 Aug 18:ddac200. doi: 10.1093/hmg/ddac200. Online ahead of print. PMID: 35981081

Cooley Coleman JA, Fee T, Bend R, Louie R, Annese F, Stallworth J, Worthington J, Buchanan CB, Everman DB, Skinner S, Friez MJ, Jones JR, Spellicy CJ. Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome. Am J Med Genet A. 2022 Aug 4. doi: 10.1002/ajmg.a.62913. Online ahead of print. PMID: 35924478

Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Bralo MP, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Hum Mutat. 2022 Jul 29. doi: 10.1002/humu.24446. PMID: 35904121

McKnight D, Bean L, Karbassi I, Beattie K, Bienvenu T, Bonin H, Fang P, Chrisodoulou J, Friez M, Helgeson M, Krishnaraj R, Meng L, Mighion L, Neul J, Percy A, Ramsden S, Zoghbi H, Das S. Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods. Hum Mutat. 2022 Aug;43(8):1097-1113. doi: 10.1002/humu.24302. Epub 2021 Dec 2. PMID: 34837432

Sohn YB, Rogers C, Stallworth J, Cooley Coleman JA, Buch L, Jozwiak E, Johnson JA, Wood T, Harmatz P, Pollard L, Louie RJ. RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A. Mol Genet Metab Rep. 2022 May 3;31:100875. doi: 10.1016/j.ymgmr.2022.100875. eCollection 2022 Jun. PMID: 35782621

Amélie Cordovado, Martina Schaettin, Médéric Jeanne, Veranika Panasenkava, Anne-Sophie Denommé-Pichon, Boris Keren, Cyril Mignot, Martine Doco-Fenzy, Lance Rodan, Keri Ramsey, Vinodh Narayanan, Julie R Jones, Eloise J Prijoles , Wendy G Mitchell, Jillian R Ozmore, Kali Juliette, Erin Torti, Elizabeth A Normand, Leslie Granger, Andrea K Petersen, Margaret G Au, Juliann P Matheny, Chanika Phornphutkul, Mary-Kathryn Chambers, Joaquín-Alejandro Fernández-Ramos, Eduardo López-Laso, Michael C Kruer, Somayeh Bakhtiari, Marcella Zollino, Manuela Morleo, Giuseppe Marangi, Davide Mei, Tiziana Pisano, Renzo Guerrini, Raymond J Louie, Anna Childers, David B Everman, Betrand Isidor, Séverine Audebert-Bellanger, Sylvie Odent, Dominique Bonneau, Brigitte Gilbert-Dussardier, Richard Redon, Stéphane Bézieau, Frédéric Laumonnier, Esther T Stoeckli, Annick Toutain, Marie-Laure Vuillaume. SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance. Hum Mol Genet. 2022 May 23;ddac114. doi: 10.1093/hmg/ddac114. Online ahead of print. PMID: 35604360

Sébastien Küry, Jinwei Zhang, Thomas Besnard, Alfonso Caro-Llopis, Xue Zeng, Stephanie M Robert, Sunday S Josiah, Emre Kiziltug, Anne-Sophie Denommé-Pichon, Benjamin Cogné, Adam, J Kundishora, Le T Hao, Hong Li, Roger E Stevenson, Raymond J Louie, Wallid Deb, Erin Torti, Virginie Vignard, Kirsty McWalter, F Lucy Raymond, Farrah Rajabi, Emmanuelle Ranza, Detelina Grozeva, Stephanie A Coury, Xavier Blanc, Elise Brischoux-Boucher, Boris Keren, Katrin Õunap, Karit Reinson, Pilvi Ilves, Ingrid M Wentzensen, Eileen E Barr, Solveig Heide Guihard, Perrine Charles, Eleanor G Seaby, Kristin G Monaghan, Marlène Rio, Yolande van Bever, Marjon van Slegtenhorst, Wendy K Chung, Ashley Wilson, Delphine Quinquis, Flora Bréhéret, Kyle Retterer, Pierre Lindenbaum, Emmanuel Scalais, Lindsay Rhodes, Katrien Stouffs, Elaine M Pereira, Sara M Berger, Sarah S Milla, Ankita B Jaykumar, Melanie H Cobb, Shreyas Panchagnula, Phan Q Duy, Marie Vincent, Sandra Mercier, Brigitte Gilbert-Dussardier, Xavier Le Guillou, Séverine Audebert-Bellanger, Sylvie Odent, Sébastien Schmitt, Pierre Boisseau, Dominique Bonneau, Annick Toutain, Estelle Colin, Laurent Pasquier, Richard Redon, Arjan Bouman, Jill A Rosenfeld, Michael J Friez, Helena Pérez-Peña, Syed Raza Akhtar Rizvi, Shozeb Haider, Stylianos E Antonarakis, Charles E Schwartz, Francisco Martínez, Stéphane Bézieau, Kristopher T Kahle, Bertrand Isidor. Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genet Med. 2022 Jun 9;S1098-3600(22)00775-4. doi: 10.1016/j.gim.2022.05.009. Online ahead of print. PMID: 35678782

Orchard PJ, Gupta A, Eisengart JB, Polgreen LE, Pollard LM, Braunlin E, Pasquali M, Lund T. Hematopoietic stem cell transplant for Hurler Syndrome: does using bone marrow or umbilical cord blood make a difference? Blood Adv. 2022 Apr 27:bloodadvances.2022007212. doi: 10.1182/bloodadvances.2022007212. Online ahead of print. PMID: 35476057

Carolina Montano, Jacquelyn F Britton, Jacqueline R Harris, Jennifer Kerkhof, Benjamin T Barnes, Jennifer A Lee, Bekim Sadikovic, Nara Sobreira, Jill A Fahrner. Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome. Am J Med Genet A. 2022 Apr 6. doi: 10.1002/ajmg.a.62754. Online ahead of print. PMID: 35384273

Jessica A Cooley Coleman, Sara M Sarasua, Hannah Warren Moore, Luigi Boccuto, Christopher W Cowan, Steven A Skinner, Jane M DeLuca. Clinical findings from the landmark MEF2C-related disorders natural history study. Mol Genet Genomic Med. 2022 Apr 13;e1919. doi: 10.1002/mgg3.1919. Online ahead of print. PMID: 35416405

Sahajpal NS, Mondal AK, Ananth S, Pundkar C, Jones K, Williams C, Fee T, Weissman A, Tripodi G, Oza E, Gavrilova-Jordan L, Omar N, Hastie AR, DuPont BR, Layman L, Chaubey A, Kolhe R. Optical Genome Mapping and Single Nucleotide Polymorphism Microarray: An Integrated Approach for Investigating Products of Conception. Genes (Basel). 2022 Apr 3;13(4):643. doi: 10.3390/genes13040643. PMID: 35456449

Bell S, Butler KM, Drazba KT, Lynch J, Abidi FE, DuPont B, Stevenson RE. Angelman syndrome with a 15q11q13 deletion in a mother and daughter. Clin Dysmorphol. 2022 Apr 1;31(2):91-93. doi: 10.1097/MCD.0000000000000399. PMID: 34775449

Boccuto L, Mitz A, Abenavoli L, Sarasua SM, Bennett W, Rogers C, DuPont B, Phelan K. Phenotypic Variability in Phelan-McDermid Syndrome and Its Putative Link to Environmental Factors. Genes (Basel). 2022 Mar 17;13(3):528. doi: 10.3390/genes13030528. PMID: 35328081

Xiaolan Fang, Kameryn M Butler, Fatima Abidi, Jennifer Gass, Arthur Beisang, Timothy Feyma, Robin C Ryther, Shannon Standridge, Peter Heydemann, Mary Jones, Richard Haas, David N Lieberman, Eric D Marsh, Tim A Benke, Steve Skinner, Jeffrey L Neul, Alan K Percy, Michael J Friez, Raymond C Caylor.  Analysis of X-inactivation status in a Rett syndrome natural history study cohort. Mol Genet Genomic Med. 2022 Mar 23;e1917. doi: 10.1002/mgg3.1917. Online ahead of print. PMID: 35318820

Catherine Gooch 1, Jaclyn Paige Souder 2, Matthew L Tedder 3, Jennifer Kerkhof 4, Jennifer A Lee 3, Raymond J Louie 3, Bekim Sadikovic 4 5, Robin S Fletcher 3, Nathaniel H Robin 1 Near complete deletion of KMT2D in a college student. Am J Med Genet A. 2022 Jan 18. doi: 10.1002/ajmg.a.62652. Online ahead of print. PMID: 35040536

Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, Démurger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D, Monin P, Odent S, Philippe C, Rouxel F, Saletti V, Strømme P, Thulin PC, Sadikovic B, Genevieve D.  DNA methylation episignature in Gabriele-de Vries syndrome. Genet Med. 2022 Jan 10:S1098-3600(21)05422-8. doi: 10.1016/j.gim.2021.12.003. Online ahead of print. PMID: 35027293