Publications

Publications with PreventionGenetics Authors

2022

D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia

Werner KM, Cox AJ, Qian E, Jain P, Ji W, Tikhonova I, Castaldi C, Bilguvar K, Knight J, Ferdinandusse S, Fawaz R, Jiang Y, Gallagher PG, Bizzarro M, Gruen JR, Bale A, and Zhang H. AM J Med Genet A. 2022 January. DOI: 10.1002/ajmg.a.62520. PMID: 34623748

Amyotrophic Lateral Sclerosis Genetic Access Program: Paving the Way for Genetic Characterization of ALS in the Clinic

Roggenbuck J, Rich KA, Vicini L, Palettas M, Schroeder J, Zaleski C, Lincoln T, Drury L, and Glass JD. Neurol Genet. 2021 Oct. DOI: 10.1212/NXG.0000000000000615. PMID: 34386583

Novel Pathogenic DNAH5 Variants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis

Lin HT, Gupta A, Bove KE, Szabo S, Xu F, Krentz A, and Shillington AL. J Pediatr Genet. 2021. DOI: 10.1055/s-0041-1733940.

Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility

Johnston JJ, Dirksen RT, Girard T, Gonsalves SG, Hopkins PM, Riazi S, Saddic LA, Sambuughin N, Saxena R, Stowell K, Weber J, Rosenberg H, and Biesecker LG. Genet Med. 2021 Jul. DOI: 10.1038/s41436-021-01125-w. PMID: 33767344

Investigating the Genetic Profile of Amyotrophic Lateral Sclerosis in Patients of Diverse Geoancestry

Mesaros M, Lenz S, Lim W, Bown J, Drury L, and Roggenbuck. 2021 April. American Academy of Neurology volume 96, article number: 15.

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Berrak U, Wegner J, Scott TM, Bostwick B, Murdock DR, Dai H, Perenthaler E, Nikoncuk A, Slegtenhorst MV, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen C, Rosenfeld JA, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott DA, and Bellen HJ. Am J Hum Genet. 2020 Dec. DOI: 10.1016/j.ajhg.2020.11.003. PMID: 33232675

Evolution of fold switching in a metamorphic protein

Dishman AF, Tyler RC, Fox JC, Kleist AB, Prehoda KE, Babu MM, Peterson FC, and Volkman BF. Science. 2021. DOI: 10.1126/science.abd8700. PMID: 33384377

A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia

Lao Q, Mallappa A, Faucz FR, Joyal E, Veeraraghavan P, Chen W, and Merke DP. Mol Genet Genomic Med. 2021. DOI: 10.1002/mgg3.1556. PMID: 33332743

2021

Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder

Sybouts EH, Brown AD, Falcon-Cantrill MG, Thomas MH, DeNapoli T, Voeller J, Chen Y, Tomlinson GE, and Bishop AJR. Cold Spring Harb Mol Case Stud. 2021 April. DOI: 10.1101/mcs.a005751. PMID: 33832920

A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia

Finn E, Kripps K, Chambers C, Rapp M, Meeks NJL, Xu F, Chen W, Larson AA, and Nokoff NJ. J Investig Med High Impact Case Rep. 2021 Jan-Dec. DOI: 10.1177/23247096211014685. PMID: 33966472

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

Ernst ME, Baugh EH, Thomas A, Bier L, Lippa N, Stong N, Mulhern MS, Kushary S, Akman CI, Heinzen EL, Yeh R, Bi W, Hanchard NA, Burrage LC, Leduc MS, Chong JSC, Bend R, Lyons MJ, Lee JA, Suwannarat P, Brilstra E, Simon M, Koopmans M, van Binsbergen E, Groepper D, Fleischer J, Nava C, Keren B, Mignot C, Mathieu S, Mancini GMS, Madan-Khetarpal S, Infante EM, Bluvstein J, Seeley A, Bachman K, Klee EW, Schultz-Rogers LE, Hasadsri L, Barnett S, Ellingosn MS, Ferber MJ, Narayanan V, Ramsey K, Rauch A, Joset P, Steindl K, Sheehan T, Poduri A, Vasquez A, Ruivenkamp C, White SM, Pais L, Monaghan KG, Goldstein DB, Sands TT, and Aggarwal V. Epilepsia. 2021 May 26. DOI: 10.1111/epi.16931. PMID: 34041744

Variant Reinterpretation in Survivors of Cardiac Arrest With Preserved Ejection Fraction (CASPER Registry) by Clinicians and Clinical Commercial Laboratories

Davies B, Bartels K, Hathaway J, Xu F, Roberts JD, Tadros R, Green MS, Healey JS, Simpson CS, Sanatani S, Steinberg C, Gardner M, Angaran P, Talajic M, Hamilton R, Arbour L, Seifer C, Fournier A, Joza J, Krahn AD, Lehman A, and Laksman ZWM. Circ Genom Precis Med. 2021 June. DOI: 10.1161/CIRCGEN.120.003235. PMID: 33960826

Tumour Surveillance for Children and Adolescents with Cancer Predisposition Syndromes: The Psychosocial Impact Reported by Adolescents and Caregivers

van Engelen K, Barrera M, Wasserman JD, Armel SR, Chitayat D, Druker H, Gallinger B, Malkin D, and Villani A. Pediatr Blood Cancer. 2021 August. DOI: 10.1002/pbc.29021. PMID: 33788392

Demographic and socioeconomic trends in DNA banking utilization in the USA

Prudent J, Lopez E, Dorshorst D, Cox HC, and Bodurtha JN. J Community Genet. 2021 June. DOI: 10.1007/s12687.021.00533.4

Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways

Seese SE, Deml B, Muheisen S, Sorokina E, and Semina EV. Dev Dyn. 2021 August. DOI: 10.1002/dvdy.312. PMID: 33570754

Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes

Strong A, Simone L, Krentz A, Vaccaro C, Watson D, Ron H, Kalish JM, Pedro HF, Zackai EH, and Hakonarson H. Am J Med Genet A. 2021 August. DOI:10.1002/ajmg.a.62337. PMID: 34132027

Bardet-Biedl syndrome: weight patterns and genetics in a rare obesity syndrome

Pomeroy J, Krentz AD, Richardson JG, Berg RL, VanWormer JJ, and Haws RM. Pediatr Obes. 2021 February. DOI: 10.1111/ijpo.12703. PMID: 32700463

The ALS Genetic Access Program: Paving the Way for Genetic Characterization of ALS in the Clinic

Roggenbuck J, Rich KA, Vicini L, Palettas M, Schroeder J, Zaleski C, Lincoln T, Drury L, and Glass JD. Neurology: Genetics MS ID#: NG/2021/016965

6 feet apart but working together

Redlinger-Grosse K, Anderson K, Birkeland L, Zaleski C, Reiser C. JoGC. 2021 March. DOI: 10.1002/jgc4.1408.

2020

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG, DDD Study, Yuan Z-F, Dubbs H, Bend R, ,Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD, Care4Rare Canada Consortium, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H, CAUSES Study, Martin MG, Martinez-Agosto JA, Undiagnosed Diseases Network, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartagli M, Thomas JM, Umana L, Weiss MJ, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpe CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ. Science Advances 2020 Dec. DOI: 10.1126/sciadv.abc9207

Genomic Screening for Malignant Hyperthermia Susceptibility

Biesecker, LG, Dirksen, T, Girard T, Hopkins, PM, Riani S, Rosenberg H, Stowell K, Weber J. Anesthesiology. 2020 Dec. DOI: 10.1097/ALN.0000000000003547. PMID: 32898259

Family history of breast cancer in men with non-BRCA male breast cancer: implications for cancer risk counseling

Calip GS, Kidd J, Bernhisel R, Cox HC, Saam J, Rauscher GH, Lancaster JM, Hoskins KF. Breast Cancer Res Treat. 2020 Sep 11. doi: 10.1007/s10549-020-05922-w. Epub ahead of print. PMID: 32918117

A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma

Ahmad S, Manon L, Bhat G, Machado J , Zalan A, Mata-Machado N, Garzon S, and Yoshii A. Human Genome Variation volume 7, Article number: 39 (2020).

EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome

Goodman SJ, Cytrynbaum C, Hon-Yin Chung B, Chater-Diehl E, Aziz C, Turinsky AL, Kellam B, Keller M, Ko JM, Caluseriu O, Grafodatskaya D, McCready E, Perrier R, San Yeung K, Ho-Ming L, Machado J, Brudno M, Stavropoulos DJ, Scherer SW, Innes AM, Cheung SW, Choufani S, Weksberg R. J Transl Genet Genom. 2020;4. DOI: 10.20517/jtgg.2020.23.

Genotype-phenotype Correlation in Children With Hereditary Spherocytosis

Soumitra T, Dhir P, Pugi J, Drury LJ, Butchart S, Fantauzzi M, Langer JC, Baker JM, Blanchette VS, Kirby-Allen M, Carcao MB. Br J Haematol. 2020 May 20. doi: 10.1111/bjh.16750. PMID: 32436265

A Snf1-related nutrient-responsive kinase antagonizes endocytosis in yeast

Tumolo JM, Hepowit NL, Joshi SS, MacGurn JA. PLoS Genet. 2020 Mar 19 DOI: 10.1371/journal.pgen.1008677 PMID: 32191698

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R.. Am J Hum Genet. 2020 DOI: 10.1016/j.ajhg.2020.03.008. PMID: 32243864

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.

Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, Õunap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson RE, Banka S, Bonasio R, Fahrner JA. Am J Hum Genet. 2020 Jan. DOI: 10.1016/j.ajhg.2019.12.007 PMID: 31928709

De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities.

Bina R, Matalon D, Freggeau B, Tarsitano JJ, Aukrust I, Houge G, Bend R, Warren H, Stevenson RE, Stuurman KE, Barkovich AJ, Sherr EH. J Med Genet. 2020 Jan. DOI: 10.1016/j.ajhg.2019.12.007 PMID: 31924697

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Mak CYC, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams J, Lessel D, Joss S, Li C, Gonzega-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Prichard AB, Yang S, Bend EG... Christopher T. Gordon. Brain. 2020 Jan; awz379, DOI: 10.1093/brain/awz379 PMID: 31834374

2019

Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients.

Salama Y, Albanyan S, Szybowska M, Bullivant G, Gallinger B, Giles RH, Asa S, Badduke C, Chiorean A, Druker H, Ezzat S, Hannah-Shmouni F, Hernandez KG, Inglese C, Jani P, Kaur Y, Krema H, Krimus L, Laperriere N, Lichner Z, Mete O, Sit M, Zadeh G, Jewett MA, Malkin D, Stockley T, Wasserman JD, Xu W, Schachter NF, Kim RH. Clin Genet. 2019 Nov. DOI: 10.1111/cge.13613. Epub 2019 Aug 6. PMID: 31368132

Two Novel TMPRSS6 Variants in a Compound Heterozygous Child With Iron Refractory Iron Deficiency Anemia (IRIDA).

Allison J, Drury L, Ford JB. J Pediatr Hematol Oncol. 2019 Nov. DOI: 10.1097/MPH.0000000000001640. PMID: 31714439

Abnormal fibrinolysis recognized by thromboelastography in a case of severe bleeding with normal coagulation and platelet function, leads to detection of a novel SERPINF2 variant causing severe alpha-2-antiplasmin deficiency.

Egan G, Pluthero FG, Bouskill V, Hilliard P, Drury LJ, Carcao MD, Kahr WHA. Br J Haematol. 2019 Sept. DOI: 10.1111/bjh.16077. PMID: 31282989

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews.

Hirsch Y, Zeevi DA, Lam BL, Scher SY, Bringer R, Cherki B, Cohen CC, Muallem H, Chiang J(PW), Pantrangi M, Ekstein J, Johansson MM. Human Genome Variation 2019 Sept. 12;6:45. DOI: 10.1038/s41439-019-0076-4 PMID: 31645983

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.

Bend R, Cohen L, Carter MT, Lyons MJ, Niyazov D, Mikati MA, Rojas SK, Person RE, Si Y, Wentzensen IM; Regeneron Genetics Center, Torti E, Lee JA1, Boycott KM, Basel-Salmon L, Ferreira CR, Gonzaga-Jauregui C. Eur J Hum Genet. 2019 Aug. DOI: 10.1038/s41431-019-0487-1. PMID: 31395947

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges.

Elliott AM, du Souich C, Lehman A, Guella I, Evans D, Candido T, Tooman L, Armstrong L, Clarke L, Gibson W, Harinder G, Lavoie PM, Lewis S, McKinnon M. Eur J Pediatr 2019 Aug. DOI: 10.1007/s00431-019-03399-4 PMID: 31172278

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB, Hildebrand MS, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S, Niyazov D, Payne K, Person R, Quélin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martínez-Cerdeño V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R. Brain. 2019 Jul. pii: awz198 DOI: 10.1093/brain/awz198 PMID: 31327001

Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.

Suleiman J, Riedhammer KM, Jicinsky T, Mundt M, Werner L, Gusic M, Burgemeister AL, Alsaif HS, Abdulrahim M, Moghrabi NN, Nicolas-Jilwan M, AlSayed M, Bi W, Sampath S, Alkuraya FS, El-Hattab AW. Hum Mutat. 2019 Jun. DOI: 10.1002/humu.23844. PMID: 31209944

Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria.

Kieke MC, Klemm J, Rech Tondin A, Alencar V, Johnson N, Driver AM, Lentz T, Fischer GJ, Caporale DA, Drury LJ. Mol Genet Metab Rep. 2019 June. DOI: 1016/j.ajhg.2019.03.008 PMID: 31304091

Insertional mutagenesis using the Sleeping Beauty transposon system identifies drivers of erythroleukemia in mice.

Loeb KR, Hughes BT, Fissel BM, Osteen NJ, Knoblaugh SE, Grim JE, Drury LJ, Sarver A, Dupuy AJ, Clurman BE. Sci Rep. 2019 Apr. DOI: 10.1038/s41598-019-41805-x. PMID: 30940846

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.

Bend EG†, Aref-Eshghi E†, Everman DB, Rogers RG, Cathey SS, Prijoles EJ, Lyons MJ, Davis H, Clarkson K, Gripp KW, Li D, Bhoj E, Zackai E, Mark P, Hakonarson H, Demmer LA, Levy MA, Kerkhof J, Stuart A, Rodenhiser D, Friez MJ, Stevenson RE, Schwartz CE, Sadikovic B. Clinical Epigenetics. 2019 Apr. DOI:10.1186/s13148-019-0658-5. PMID: 31029150 †Contributed equally

Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.

Bend EG, Louie RJ, Stevenson RE. Clinical Dysmorphology. 2019 Apr. DOI: 10.1097/MCD.0000000000000260. PMID: 30664540

Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series.

Wen J, Comerford K, Xu Z, Wu W, Amato K, Grommisch B, DiAdamo A, Xu F, Chai H, Li P. Molecular Cytogenetics. 2019 Mar. DOI: 10.1186/s13039-019-0424-6. PMID: 30886647

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.

Aref-Eshghi E, Bend EG, Colaiacovo S, Caudle M, Chakrabarti R, Napier M, Brick L, Brady L, Carere DA, Levy MA, Kerkhof J, Stuart A, Saleh M, Beaudet AL, Li C, Kozenko M, Karp N, Prasad C, Siu VM, Tarnopolsky MA, Ainsworth PJ, Lin H, Rodenhiser DI, Krantz ID, Deardorff MA, Schwartz CE, Sadikovic B. Am J Hum Genet. 2019 March. DOI:10.1016/j.ajhg.2019.03.008 PMID: 30929737

"A change in perspective": Exploring the experiences of adolescents with hereditary tumor predisposition.

Weber E, Shuman C, Wasserman J, Barrera M, Patenaude AF, Fung K, Chitayat D, Malkin D, Druker H. Pediatr Blood Cancer. 2019 Jan. DOI: 10.1002/pbc.27445. Epub 2018 Sep 11. PMID: 30207072

2018

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes.

Aref-Eshghi E, Bend EG, Hood RL, Schenkel LC, Carere DA, Chakrabarti R, Nagamani SCS, Cheung SW, Campeau PM, Prasad C, Siu VM, Brady L, Tarnopolsky MA, Callen DJ, Innes AM, White SM, Meschino WS, Shuen AY, Paré G, Bulman DE, Ainsworth PJ, Lin H, Rodenhiser DI, Hennekam RC, Boycott KM, Schwartz CE, Sadikovic B. Nature Communications. 2018 Nov. doi: 10.1038/s41467-018-07193-y PMID: 30459321

Second rhabdoid tumor 8 years after treatment of atypical teratoid/rhabdoid tumor in a child with germline SMARCB1 mutation.

Bhatt MD, Al-Karmi S, Druker H, Gupta A, Lu M, Malkin D, Somers G, Huang A, Bouffet E. Pediatr Blood Cancer. 2019 Mar. doi: 10.1002/pbc.27546. Epub 2018 Nov. PMID: 30393974

Thoraco-abdominal abnormalities in Bardet-Biedl syndrome: situs inversus and heterotaxy.

Olson, AJ, Krentz AD, Finta FM, Okorie UC, Haws RB. Journal of Pediatrics. 2019 Jan. doi: 10.1016/j.jpeds.2018.08.068. Epub 2018 Oct. PMID: 30293640

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-a2 variome and its related phenotypes.

Oliveira J, Gruber A, Cardoso M, Taipa R, Fineza I, Gonçalves A, Laner 7, Winder TL, Schroeder J, Rath J, Oliveira ME, Vieira E, Sousa AP, Vieira JP, Lourenço T, Almendra L, Negrão L, Santos M, Melo-Pires M, Coelho T, den Dunnen JT, Santos R, Sousa M. Hum Mutat. 2018 Oct. doi: 10.1002/humu.23599. Epub 2018 Aug. PMID: 30055037

Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization.

Eno C, Bayrak-Toydemir P, Bean L, Braxton A, Chao EC, El-Khechen D, Esplin ED, Friedman B, Hagman KDF, Hambuch T, Hernandez A, Juusola J, Londre G, Machado J, Mao R, Mighion L, Rehm HL, Ward P, Deignan JL. Genet Med. 2018 Sep 14. doi: 10.1038/s41436-018-0265-4. PMID: 30214068

Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease.

Albanyan S, Giles RH, Gimeno EM, Silver J, Murphy J, Faghfoury H, Morel CF, Machado J, Kim RH. Eur J Med Genet. 2018 Jul 10. doi: 10.1016/j.ejmg.2018.07.006. [Epub ahead of print] PMID: 30006056

TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies.

Suleiman J, Mundt M, Sampath S, El-Hattab AW. Clin Genet. 2018 Apr 6. doi: 10.1111/cge.13258. PMID: 29633245

Evidence for genetic anticipation in vonHippel-Lindau syndrome.

Aronoff L, Malkin D, van Engelen K, Gallinger B, Wasserman J, Kim RH, Villani A, Meyn MS, Druker H. J Med Genet. 2018 Jun;55(6):395-402. doi: 10.1136/jmedgenet-2017-104882. Epub 2018 Feb. PMID: 29437867

Results after laparoscopic partial splenectomy for children with hereditary spherocytosis: Are outcomes influenced by genetic mutation?

Pugi J, Carcao M, Drury LJ, Langer JC3. J Pediatr Surg. 2018 May. doi: 10.1016/j.jpedsurg.2018.02.027. Epub 2018 Feb. PMID: 29506817

SPARK Consortium. SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research.

Neuron. 2018 Feb. doi: 10.1016/j.neuron.2018.01.015. PMID: 29420931

2017

Revisiting the Prevalence of Nonclassic Congenital Adrenal Hyperplasia in U.S. Ashkenazi Jews and Caucasians.

Hannah-Shmouni F, Morissette R, Sinaii N, Elman M, Prezant TR, Chen W, Pulver A, Merke DP. Genet Med. 2017 Nov. DOI: 10.1038/gim.2017.46 PMID: 28541281

DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center.

van Engelen K, Villani A, Wasserman JD, Aronoff L, Greer MC, Tijerin Bueno M, Gallinger B, Kim RH, Grant R, Meyn MS, Malkin D, Druker H. Pediatr Blood Cancer. 2018 Jan. DOI: 10.1002/pbc.26720. Epub 2017 Sep 27. PMID: 28960912

De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report.

Al Dhaibai MA, Allingham-Hawkins D, El-Hattab AW. BMC Med Genet. 2017 Oct 23;18(1):118. DOI: 10.1186/s12881-017-0482-8., PMID: 29061174

High amplification levels of MDM2 and CDK4 correlate with poor outcome in patients with dedifferentiated liposarcoma: a cytogenomic microarray analysis of 47 cases.

Ricciotti RW, Baraff AJ, Jour G, Kyriss M, Wu Y, Liu Y, Li SC, Hoch B, Liu YJ. 2017 Sept. Cancer Genetics (2017), DOI:10.1016/j.cancergen.2017.09.005 PMID: 29153098

WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: a consistent neurodevelopmental syndrome.

Suleiman J, Allingham-Hawkins D, Hashem M, Shamseddin H, Alkuraya FS, El-Hattab A W, Clin Genet. 2018 Sept. DOI:10.1111/cge.13054. Epub 2017 Sept. PMID: 28503735

6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.

Cheng A, Dinulos MBP, Neufeld-Kaiser W, Rosenfeld J, Kyriss M, Madan-Khetarpal S, Risheg H, Byers PH, Liu YJ. 2017 Jul. Am. J. Med. Genet. A. DOI: 10.1002;ajmg.a.38254. PMID: 28464518

Genetics of Congenital Adrenal Hyperplasia.

Hannah-Shmouni F, Chen W, Merke DP. Endocrinol Metab Clin North Am. 2017 Jun. DOI: 10.1016/j.ecl.2017.01.008 PMID: 28476231

Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.

Garland J, Stephen J, Class B, Gruber A, Ciccone C, Poliak A, Hayes CP, Singhal , Slota C, Perreault J, Gavrilova R, Shrader JA, Chittiboina P, Joe G, Heiss J, Gahl WA, Huizing M, Carrillo N, Malicdan MCV. 2017 Jun. Mol Genet Genomic Med. DOI:10.1002/mgg3.300. PMID: 28717665

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

Wortmann SB, Wevers RA, Tiller GE, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grűnewald S, Kyriss M, Maranda B, Mills PB, Pitt J, Potente C, Reid ES, Rodenburg R, Kluijtmans LA, Sampath S, Thomas JA, Waters PJ, White SM, Pai EF. 2017 May. J. Inherit. Metab. Dis. DOI: 10.1007/s10545-017-0015-9. PMID: 28205048

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S, Machado J, Caluseriu O, Dupuis L, Grafodatskaya D, Reardon W, Gilbert-Dussardier B, Verloes A, Bilan F, Milunsky JM, Basran R, Papsin B, Stockley TL, Scherer SW, Choufani S, Brudno M, Weksberg R. Am J Hum Genet. 2017 May. DOI: 10.1016/j.ajhg.2017.04.004 PMID: 28475860

Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother.

Wood KA, Zambrano RM, Cheek BJ, Arcement C, Haymon M, Steinkampf J, Sampath S, Hyland JC, Lacassie Y. Clin Case Rep. 2017 Feb. DOI: 10.1002/ccr3.835. PMID: 28396763

A novel large homozygous deletion in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens.

Bagheri S, Pantrangi M, Sodhi SK, Bagheri S, Oellers P, Scholl HPN. 2017.Retin Cases Brief Rep. DOI: 10.1097/ICB.000000000000628. PMID: 28827498

Mutational and biochemical findings in adults with persistent hypophosphatasia.

McKiernan FE, Dong J, Berg RL, Scotty E, Mundt P, Larson L, Rai I. 2017. Osteoporosis Int. DOI:10.1007/s00198-017-4035-y. PMID: 28475860

Adding value to genetic testing through utilization management: Commercial laboratory's experience.

Londre G, Zaleski C, Conta JH. 2017. Am J Med Genet Part. DOI:10.1002/ajmg.a.38147. PMID: 28317251

2016

Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.

Chen W, Perritt AF, Morissette R, Dreiling JL, Bohn MF, Mallappa A, Xu Z, Quezado M, Merke DP. 2016. Hum Mutat. DOI: 10.1002/humu.23028 PMID: 27297501

2015

Bardet–Biedl syndrome: A model for translational research in rare diseases.

Haws RM, Krentz AD, Stankowski RV, Steiner RD. 2015. European Journal of Molecular & Clinical Medicine. DOI:10.1016/j.nhtm.2015.06.001 https://www.sciencedirect.com/science/article/abs/pii/S2307502315000284

Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children.

Brown LM, Corrado MM, van der Ende RM, Derks TG, Chen MA, Siegel S, Hoyt K, Correia CE, Lumpkin C, Flanagan TB, Carreras CT, Weinstein DA. 2015. Journal of Inherited Metabolic Disorder. DOI: 10.1007/s10545-014-9744-1 PMID: 25070466

Broadening the spectrum of Ehlers Danlos syndrome in patients with congenital adrenal hyperplasia.

Morissette R*, Chen W*, Perritt AF, Dreiling JL, Arai AE, Sachdev V, Hannoush H, Mallappa A, Xu Z, McDonnell NB, Quezado M, Merke DP. 2015. Journal of Clinical Endocrinology & Metabolism. [*Co-first Authors] DOI: 10.1210/jc.2015-2232 PMID: 26075496

2014

Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father.

Loupe J, Sampath S, Lacassie Y. Eur J Med Genet. 2014 Oct;57(10):562-6. DOI: 10.1016/j.ejmg.2014.08.002. Epub 2014 Aug 10. PMID: 25118007

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.

Pham J, Shaw C, Pursley A, Hixson P, Sampath S, Roney E, Gambin T, Kang SH, Bi W, Lalani S, Bacino C, Lupski JR, Stankiewicz P, Patel A, Cheung SW. Eur J Hum Genet. 2014 Aug. DOI: 10.1038/ejhg.2013.285. Epub 2014 Jan 8. PMID: 24398791

Family history and clefting as major criteria for CHARGE syndrome.

Hughes SS, Welsh HI, Safina NP, Bejaoui K, Ardinger HH. Am J Med Genet A. 2014 Jan. DOI: 10.1002/ajmg.a.36192. Epub 2013 Nov 8. PMID: 24214489

Niemann Pick C: first case in a Canadian Nakoda Nation child.

Khan A, Curtis C, Sarnat HB, Pinto-Rojas A, Bejaoui K, Wei XC, Casey R. 2014. Can J Neurol Sci. DOI: 10.1017/s0317167100018606. PMID: 24878481

Homozygosity for the V122I mutation in Transthyretin is associated with earlier onset of cardiac amyloidosis in the African American Population, in the 7 th decade of life.

Reddi HV*, Jenkins S, Theis J, Thomas BC, Connors LH, Van Rhee F and Highsmith WE* . 2014. J Mol. Diag. [*Co-corresponding Authors] DOI: 10.1016/j.jmoldx.2013.08.001 PMID: 24184229

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

Wallace SE, Conta JH, Winder TL, Willer T, Eskuri JM, Haas R, Patterson K, Campbell KP, Moore SA, Gospe SM Jr. 2014. 2014 Jan 11.Neuromuscul Disord. DOI: 10.1016/j.nmd.2014.01.001 PMID: 24491487

2013

Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum.

Bharucha-Goebel DX, Santi M, Medne L, Zukosky K, Dastgir J, Shieh PB, Winder TL,Tennekoon G, Finkel RS, Dowling JJ, Monnier N, Bönnemann CG. 2013 Apr. Neurology. DOI: 10.1212/WNL.0b013e3182900380. PMID: 23553484

Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.

Borovik L, Modaff P, Waterham, HR, Krentz AD, Pauli, RM. 2013. Am J Med Genet. DOI: 10.1002/ajmg.a.36019. PMID: 23824842

Position of Glycine Substitutions in the Triple Helix of COL6A1, COL6A2, and COL5A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies.

Butterfield RJ, Foley AR, Dastgir J, Asman S, Dunn DM, Zou Y, Hu Y, Donkervoort S, Flanigan KM, Swoboda KJ, Winder TL, Weiss RB, Bönnemann CG. 2013. Hum Mutat. DOI: 10.1002/humu.22429. PMID: 24038877

Novel deletion of lysine 7 expands the clinical histopathological and genetic spectrum of TPM2-related myopathies.

Davidson A, Siddiqui F, Lopez M, Lunt P, Carlson H, Moore B, Love S, Born D, Roper H, Majumdar A, Jayadev S, Underhill H, Smith C, von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cos M, Winder TL, Salam H, Li J, Moore S, Dowling J. 2013. Brain. DOI: 10.1093/brain/aws344 PMID: 23413262

Molecular Testing for Cystic Fibrosis Carrier Status Practice Guidelines: Recommendations of the National Society of Genetic Counselors.

Langfelder-Schwind E, Karczeski B, Strecker MN, Redmond J, Sugarman E, Zaleski C, Brown T, Keiles S, Powers A, Ghate S, Darrah R. 2013 Sep. J Genet Couns. DOI: 10.1007/s10897-013-9636-9. PMID: 24014130

ANO5-muscular dystrophy: clinical, pathological and molecular findings.

Liewluck T, Winder TL, Dimberg EL, Crum BA, Heppelmann CJ, Wang Y, Bergen HR 3rd, Milone M. 2013 May. Eur J Neurol. doi: 10.1111/ene.12191. PMID: 19917824

A compound T60A and V122I heterozygosity in the transthyretin gene causing early onset severe cardiac amyloidosis.

Liu Y-C*, Reddi HV*, Waheed S, Alapat D, Highsmith WE, Edmonson RD, Barlogie B, and Van Rhee F. 2014. Amyloid [*Co-first Authors]. DOI: 10.3109/13506129.2014.883373. PMID: 24517438

Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK.

Lorenzo M, Brugnoni R, Scaioli V, Winder TL, Morandi L, Engel AG, Mantegazza R, Bernasconi P. 2013. J Neurol. DOI: 10.1007/s00415-013-7118-5. PMID: 24122059

Mutations in the EGFR pathway: Clinical utility and testing strategies.

Reddi HV. 2013. Clinical Laboratory News. https://www.aacc.org/publications/cln/articles/2013/october/egfr-mutations

A family with bolzano-type Bernard-Soulier syndrome carries a benign A1939T MYH9 mutation.

Sarangi SN, Golightly M, Weber J, Chan EL. 2013. Platelets. DOI: 10.3109/09537104.2012.658108. PMID: 22372535

Differences in the Clinical Spectrum of Two Adolescent Male Patients with Alström syndrome.

Vladimir K, Marshall JD, Collin GB, Nykamp K, Kuburovic N, Milenkovic T, Rakic S,Vukomanovic V, Djuric M, Jecmenica J, Milenkovic S, Naggert JK. 2013. Clinical Dysmorphology. DOI: 10.1097/MCD.0b013e32835b9017. PMID: 23188138

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion with neurodegenerative disease.

Weisfeld-Adams JD, Mehta L, Rucker JC, Dembitzer FR, Szporn A, Lublin FD, Introne WJ, Bhambhani V, Chicka MC, Cho C. 2013. Orphanet Journal of Rare Diseases. DOI: 10.1186/1750-1172-8-46. PMID: 23521865

2012

Amyloidosis and exercise intolerance in ANO5 muscular dystrophy.

Milone M, Liewluck T, Winder TL, Pianosi PT. 2012. Neuromuscul Disord. DOI: 10.1016/j.nmd.2011.07.005. PMID: 21820307

Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome.

Thomas M, Enciso V, Stratton R, Shah S, Winder T, Tayeh M, Roeder E. 2012. Am J Med Genet. doi.org/10.1002/ajmg.a.35284

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.

Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence M, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M. 2012. J Med Genet. DOI: 10.1136/jmedgenet-2012-101008 PMID: 22791840

ISPD loss-of function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni, F, Loder, AS, Dobyns WB, Winder, TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell, KP, 2012. Nat Genet. DOI: 10.1038/ng.2252. PMID: 22522420

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.

Yonath H, Reznik-Wolf H, Berkenstadt M, Eisenberg-Barzilai S, Lehtokari VL, Wallgren-Pettersson C, Mehta L, Achiron R, Gilboa Y, Polak-Charcon S, Winder T, Frydman M, Pras E. 2012. Prenat Diagn. DOI: 10.1002/pd.2905. PMID: 22367672

2011

Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.

Foley AR, Hu Y, Zou Y, Yang M, Medne L, Leach M, Conlin LK, Spinner N, Shaikh TH, Falk M, Neumeyer AM, Bliss L, Tseng BS, Winder TL. 2011. Ann Neurol. DOI: 10.1002/ana.22283. PMID: 21280092

A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations.

Gallione CJ, Solatycki A, Awad IA, Weber JL, Marchuk DA. 2011. Genet Med. DOI: 10.1097/GIM.0b013e318211ff8b. PMID: 21543988

Myoglobinuria and muscle pain are common in patients with limbgirdle muscular dystrophy 2I.

Mathews KD, Stephan CM, Laubenthal K, Winder TL, Michele DE, Moore SA, Campbell KP. 2011. Neurology. doi: 10.1212/WNL.0b013e3182061ad4. PMID: 21220724

Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.

Wannasilp N, Solomon BD, Warren-Mora N, Clegg NJ, Delgado MR, Lacbawan F, Hu P, Winder TL, Roessler E, Muenke M. 2011. Am J Med Genet. DOI: 10.1002/ajmg.a.33903. PMID: 21416594

Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern.

Wu Y, Weber JL, Vladutiu GD, Tarnopolsky MA. 2011. Mol Genet Metab. DOI: 10.1016/j.ymgme.2011.08.012. PMID: 21880526

2010

Autosomal recessive LMNA mutation causing restrictive dermopathy.

Youn GJ, Uzunyan M, Vachon L, Johnson J, Winder, TL, Yano S. 2010. Clin Genet. DOI: 10.1111/j.1399-0004.2010.01385.x. PMID: 20662858

2009

Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.

Chang W, Winder TL, LeDuc CA, Simpson LL, Millar WS, Dungan J, Ginsberg N, Plaga S, Moore SA, Chung WK. 2009. Prenat Diagn. DOI: 10.1002/pd.2238 PMID: 19266496

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmuller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ, 2009. Hum Mutat. DOI: 10.1002/humu.21059. PMID: 19562689

Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I.

Margeta M, Connolly, AM, Winder TL, Pestronk A, Moore SA. 2009. Muscle Nerve. DOI: 10.1002/mus.21432. PMID: 19705481

Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.

Puckett RL, Moore SA, Winder TL, Willer T, Romansky SG, Covault KK, Campbell KP, Abdenur JE. 2009. Neuromuscul Disord. DOI: 10.1016/j.nmd.2009.03.001. PMID: 19342235

The Genetic Structure and History of Africans and African Americans.

Tishkoff SA, Reed FA, Friedlaender FR, Froment A, Ehret C, Dobrin S, Doumbo O, Hirbo JB, Ibrahim M, Juma AT, Kotze MJ, Lema G, Moore JH, Nyambo TB, Omar SA, Pretorius GS, Ranciaro A, Smith MW, Thera M, Wambebe C, Weber JL, Williams SM. 2009. Science. DOI: 10.1126/science.1172257. PMID: 19407144

2008

The Genetic Structure of Pacific Islanders.

Friedlaender JS, Friedlaender FR, Reed FR, Kidd KK, Kidd JR, Chambers G, Lea R, Loo JH, Koki G, Hodgson JA, Merriwether DA, Weber JL. 2008. PLOS Genetics. DOI: 10.1371/journal.pgen.0040019. PMID: 18208337

Linkage disequilibrium between STRPs and SNPs across the human genome.

Payseur BA, Place, M, Weber JL. 2008. Am. J. Hum. Genet. DOI: 10.1016/j.ajhg.2008.02.018. PMID: 18423524