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Dorothy Katherine Grange, M.D.
grangedk@wustl.edu
Professor of Pediatrics, Division of Genetics and Genomic Medicine
Genetics and Genomic Medicine
phone: (314) 454-6093
Education
BA,
Cum Laude
,
Mount Holyoke College
,
1980
MD,
University of Florida College of Medicine
,
1982
Training
Pathology Intern, University of Florida
,
1981
-
1982
Pediatric Intern and Resident, University of Wisconsin
,
1982
-
1985
Pathology Resident, University of Wisconsin
,
1985
-
1986
Medical Genetics Fellowship Program, National Institutes of Health
,
1986
-
1989
Licensure and Board Certification
1981
-
1986
WI
1982
-
Pres
National Board of Medical Examiners
1986
-
1989
MD
1987
-
Pres
American Academy of Pediatrics
1989
-
2023
MO
1990
-
Pres
Clinical Genetics, American Board of Medical Genetics
2002
-
2023
IL
2009
-
Pres
Medical Biochemical Genetics, American Board of Medical Genetics
Honors and Awards
Dean Mitchell Baker Medical Student Award for Pediatric Cardiology
,
1981
Outstanding Teacher Award - Subspecialty, Department of Pediatrics, Washington University School of Medicine
,
2008
- 2009
Distinguished Clinician Award, Washington University School of Medicine
,
2015
Shining Star Award from the Down Syndrome Association of Greater St Louis
,
2016
Recent Publications
view all (140)
Publication Co-Authors
James Kemp, M.D.
Gregory A. Storch, M.D.
Dustin Baldridge
Marwan Shinawi, M.D.
Duha Al-Zubeidi
Laura Schuettpelz, M.D, Ph.D.
S. Paul Hmiel, M.D., Ph.D.
Barbara B. Warner, M.D., MSc
Jennifer A Wambach, M.D.
Linda Manwaring
Sheel Pathak
Andrea Coverstone, M.D.
Gary S Gottesman
Charles Canter, M.D.
Jorge L Granadillo, MD, MSc.
David B. Wilson, M.D., Ph.D.
George F. Van Hare, M.D.
Beth A. Kozel, M.D., Ph.D.
Scott Saunders, M.D., Ph.D.
Patricia Dickson
Jennifer Heeley
Kristin Guilliams, MD MSCI
Raja Dandamudi
Lisa Connor
Tomi L. Toler, MS, CGC
Francis Sessions Cole, III, M.D.
Markham C, Williams C, Miller C,
Grange DK
, Davis TK, Remy KE..
Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia.
Front Pediatr
.
2021.
doi:
10.3389/fped.2021.732354
PMID:
34805036
Zheng W-Q, Pedersen SV, Thompson K, Bellacchio E, French CE, Munro B, Pearson TS, Vogt J, Diodato D, Diemer T, Ernst A, Horvath R, Chitre M, Ek J, Wibrand F,
Grange DK
, Raymond L, Zhou X-L, Taylor RW, Ostergaard E.
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease
Hum Mol Genet
.
2021.
doi:
10.1093/hmg/ddab257
PMID:
34508595
Roessler HI, van der Heuvel LM, Shields K, Guilliams KP, Knoers NVAM, van Haaften G,
Grange DK
, van Haelst MM.
Behavioral and cognitive functioning in individuals with Cantú syndrome
Am J Med Genet A
.
2021.
doi:
10.1002/ajmg.a.62348
PMID:
34056838
Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH; Undiagnosed Diseases Network, Andrews MV,
Grange DK
, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP..
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
Genet Med
.
2021.
doi:
10.1038/s41436-021-01152-7
PMID:
33833410
Lee EJ, Dandamudi R, Granadillo JL,
Grange DK
, Kakajiwala A..
Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B.
CEN Case Rep.
.
2021.
doi:
10.1007/s13730-021-00572-3
PMID:
33502714
York NW, Parker H, Xie Z, Tyus D, Waheed MA, Yan Z,
Grange DK
, Remedi MS, England SK, Hu H, Nichols CG..
Kir6.1- and SUR2-dependent KATP over-activity disrupts intestinal motility in murine models of Cantu Syndrome
JCI Insight
.
2020;5
(23):
e141443.
doi:
10.1172/jci.insight.141443
PMID:
33170808
Grange DK, Nichols CG, Singh GK. Cantú Syndrome. 2014 Oct 2 [Updated 2020 Oct 1]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK246980/.
Cantú Syndrome
GeneReviews
.
2020.
PMID:
25275207
Parith Wongkittichote, James R. Watson, Jennifer M. Leonard, Elizabeth R. Toolan, Patricia I. Dickson, Dorothy K. Grange.
Fatal COVID‐19 infection in a patient with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: A case report
JIMD Reports
.
2020.
doi:
10.1002/jmd2.12165
Motta M, Pannone L, Pantaleoni F, Bocchinfuso G, Radio FC, Cecchetti S, Ciolfi A, Di Rocco M, Elting MW, Brilstra EH, Boni S, Mazzanti L, Tamburrino F, Walsh L, Payne K, Fernández-Jaén A, Ganapathi M, Chung WK, Grange DK, Dave-Wala A, Reshmi SC, Bartholomew DW, Mouhlas D, Carpentieri G, Bruselles A, Pizzi S, Bellacchio E, Piceci-Sparascio F, Lißewski C, Brinkmann J, Waclaw RR, Waisfisz Q, van Gassen K, Wentzensen IM, Morrow MM, Álvarez S, Martínez-García M, De Luca A, Memo L, Zampino G, Rossi C, Seri M, Gelb BD, Zenker M, Dallapiccola B, Stella L, Prada CE, Martinelli S, Flex E, Tartaglia M.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
Am J Med Genet A
.
2020;107
(3):
499-513.
doi:
10.1016/j.ajhg.2020.06.018
PMID:
32721402
Rubin Z, Grange DK, Cooper MA.
Siblings with a novel MED12 variant and Odho syndrome with immune defects
Clin Genet
.
2020;98
(3):
308-310.
doi:
10.1111/cge.13806
PMID:
32721402
Burton BK, Longo N, Vockley J, Grange DK, Harding CO, Decker C, Li M, Lau K, Rosen O, Larimore K, Thomas J; PAL-002 and PAL-004 Investigators.
Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up
Mol Genet Metab
.
2020;130
(4):
239-246.
doi:
10.1016/j.ymgme.2020.06.006
PMID:
32593547
Körber I, Klein OD, Morhart P, Faschingbauer F, Grange DK, Clarke A, Bodemer C, Maitz S, Huttner K, Kirby N, Durand C, Schneider H..
Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects
Br J Clin Pharmacol
.
2020;86
(10):
2063-2069.
doi:
10.1111/bcp.14301
PMID:
32250462
Roessler HI, Shields K, Grange DK, Knoers NVAM, van Haaften G, Hammond P, van Haelst MM.
Three-dimensional facial morphology in Cantu syndrome
Am J Med Genet A
.
2020;182
(5):
1041-1052.
PMID:
32100467
Baldridge D, Spillmann RC, Wegner DJ, Wambach JA, White FV, Sisco K, Toler TL, Dickson PI, Cole FS, Shashi V, Grange DK.
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome
Am J Med Genet A
.
2020;182
(5):
1053-1065.
doi:
10.1002/ajmg.a.61518
PMID:
32083401
Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M, Lehman A; CAUSES Study, Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K, Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R, Thauvin-Robinet C..
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
Eur J Hum Genet
.
2020;28
(6):
770-782.
doi:
10.1038/s41431-020-0571-6
PMID:
32005960
Burton BK, Charrow J, Hoganson GE, Fleischer J,
Grange DK
, Braddock SR, Hitchins L, Hickey R, Christensen KM, Groepper D, Shryock H, Smith P, Shao R, Basheeruddin K..
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants
Int J Neonatal Screen
.
2020;6
(1):
4.
doi:
10.3390/ijns6010004
PMID:
33073003
Joel J Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C Pyle, Dorothy K Grange, Seth I Berger, Katelyn K Payne, Diane Masser-Frye, Tommy Hu, Michelle R Christie, Nancy J Clegg, Joshua L Everson, Ariel F Martinez, Laurence E Walsh, Emma Bedoukian, Marilyn C Jones, Catharine Jean Harris, Korbinian M Riedhammer, Daniela Choukair, Patricia Y Fechner, Meilan M Rutter, Sophia B Hufnagel, Maian Roifman, Gad B Kletter, Emmanuele Delot, Eric Vilain, Robert J Lipinski, Chad M Vezina, Maximilian Muenke, David Chitayat.
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
Am J Med Genet A
.
2019;106
(1):
121-128.
doi:
10.1016/j.ajhg.2019.12.004
PMID:
31883643
Dorothy K Grange, Helen I Roessler, Conor McClenaghan, Karen Duran, Kathleen Shields, Maria S Remedi, Nine V A M Knoers, Jin-Moo Lee, Edwin P Kirk, Ingrid Scurr, Sarah F Smithson, Gautam K Singh, Mieke M van Haelst, Colin G Nichols, Gijs van Haaften.
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry
Am J Med Genet C Semin Med Genet
.
2019;181
(4):
658-681.
doi:
10.1002/ajmg.c.31753
PMID:
31828977
Sakil Kulkarni, Brooj Abro, Maria Laura Duque Lasio, Janis Stoll, Dorothy K Grange, Mai He.
Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants
Pediatr Dev Path
.
2019;23
(3):
235-239.
doi:
10.1177/1093526619881541
PMID:
316355528
Burton BK, Hoganson GE, Fleischer J, Grange DK, Braddock SR, Hickey R, Hitchins L, Groepper D, Christensen KM, Kirby A, Moody C, Shryock H, Ashbaugh L, Shao R, Basheeruddin K..
Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.
J Pediatr
.
2019;S0022-3476
(19):
30961-30968.
doi:
10.1016/j.jpeds.2019.07.053
PMID:
31477379
Hawks Z, Hood AM, Lerman-Sinkoff DB, Shimony JS, Rutlin J, Lagoni D, Grange DK, White DA..
White and gray matter brain development in children and young adults with phenylketonuria.
Neuroimage Clin
.
2019;23:101916.
doi:
10.1016/j.nicl.2019.101916
Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL..
Mutation update for the SATB2 gene
Hum Mutat
.
2019;40
(8):
1013-1029.
doi:
10.1002/humu.23771
PMID:
31021519
Ma A, Gurnasinghani S, Kirk EP, McClenaghan C, Singh GK, Grange DK, Pandit C, Zhu Y, Roscioli T, Elakis G, Buckley M, Mehta B, Roberts P, Mervis J, Biggin A, Nichols CG..
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.
Am J Med Genet A
.
2019;179
(8):
1585-1590.
doi:
10.1002/ajmg.a.61200
PMID:
31175705
Kloth K, Bierhals T, Johannsen J, Harms FL, Juusola J, Johnson MC, Grange DK, Kutsche K..
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.
Hum Genet
.
2019.
doi:
10.1007/s00439-019-02011-x
PMID:
30963242
Okur V, Cho MT, van Wijk R, van Oirschot B, Picker J, Coury SA, Grange D, Manwaring L, Krantz I, Muraresku CC, Hulick PJ, May H, Pierce E, Place E, Bujakowska K, Telegrafi A, Douglas G, Monaghan KG, Begtrup A, Wilson A, Retterer K, Anyane-Yeboa K, Chung WK..
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
Eur J Hum Genet.
.
2019.
doi:
10.1038/s41431-019-0366-9
PMID:
30778173
Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, Cogne B, Courtin T, Escobar LF, Finley SL, Graham JM Jr, Grange DK, Heron D, Hewson S, Hiatt SM, Hibbs KA, Jayakar P, Kalsner L, Larcher L, Lesca G, Mark PR, Miller K, Nava C, Nizon M, Pai GS, Pappas J, Parsons G, Payne K, Putoux A, Rabin R, Sabatier I, Shinawi M, Shur N, Skinner SA, Valence S, Warren H, Whalen S, Crunk A, Douglas G, Monaghan KG, Person RE, Willaert R, Solomon BD, Juusola J..
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Genet Med
.
2019.
doi:
10.1038/s41436-019-0454-9
PMID:
30739909
Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P..
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Am J Hum Genet.
.
2019;104
(2):
213-228.
doi:
10.1016/j.ajhg.2018.12.010
PMID:
30639323
Wambach JA, Wegner DJ, Patni N, Kircher M, Willing MC, Baldridge D, Xing C, Agarwal AK, Vergano SAS, Patel C, Grange DK, Kenney A, Najaf T, Nickerson DA, Bamshad MJ, Cole FS, Garg A..
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
Am J Hum Genet.
.
2018;103
(6):
968-975.
doi:
10.1016/j.ajhg.2018.10.010
PMID:
30414627
Nguyen HH, Grange DK, Johnson MC, Van Hare GF, Jay PY..
Dichotomous roles of TBX3 in the establishment of atrioventricular conduction pathways in the human heart.
Heart Rhythm Case Rep.
.
2018;5
(2):
109-111.
doi:
10.1016/j.hrcr.2018.11.005
PMID:
30820409
Mohammed Almannai, Julia Wang, Hongzheng Dai, Ayman El-Hattab, Eissa Faqeih, Mohammed A. Saleh, Ali Al Asmari, Ali H Alwadei, Yaser I. Aljadhai, Amal Alhashem, Brahim M. Tabarki, Matthew A. Lines, Dorothy K. Grange, Ruba Benini, Abdulaziz AlSaman, Adel Mahmoud, Panagiotis Katsonis, Oliver Lichtarge, Lee-Jun Wong.
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab
.
2018.
doi:
org/10.1016/j.ymgme.2018.07.014
Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM; Care for Rare Canada Consortium.
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature
Eur J Hum Genet
.
2018.
doi:
10.1038/s41431-018-0187-2
PMID:
29904177
Harding CO, Amato RS, Stuy M, Longo N, Burton BK, Posner J, Weng HH, Merilainen M, Gu Z, Jiang J, Vockley J; PRISM-2 Investigators.
Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial
Mol Genet Metab
.
2018;124
(1):
20-26.
doi:
10.1016/j.ymgme.2018.03.003
PMID:
29628378
Hawks ZW, Strube MJ, Johnson NX, Grange DK, White DA.
Developmental Trajectories of Executive and Verbal Processes in Children with Phenylketonuria
Dev Neuropsychol
.
2018;43
(3):
207-218.
doi:
10.1080/87565641.2018.1438439
PMID:
29432026
McClenaghan C, Hanson A, Sala-Rabanal M, Roessler HI, Josifova D, Grange DK, van Haaften G, Nichols CG.
Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms
J Biol Chem
.
2018;293
(6):
2041-2052.
doi:
10.1074/jbc.RA117.000351
PMID:
29275331
Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S..
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Am J Hum Genet
.
2017;101
(5):
768-788.
doi:
10.1016/j.ajhg.2017.10.003
PMID:
29100089
Hadj-Rabia S, Schneider H, Navarro E, Klein O, Kirby N, Huttner K, Wolf L, Orin M, Wohlfart S, Bodemer C, Grange DK..
Automatic recognition of the XLHED phenotype from facial images.
Am J Med Genet A
.
2017;173
(9):
2408-2414.
doi:
10.1002/ajmg.a.38343
PMID:
28691769
Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL; Members of the Undiagnosed Diseases Network, Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR..
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Genome Med
.
2017;9
(1):
73.
doi:
doi: 10.1186/s13073-017-0463-8
PMID:
28807008
Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, Shinawi M, Baldridge D, Alhaddad B, Strom TM, Grange DK, Wilichowski E, Troxell R, Collins J, Warner BB, Schmidt RE, Pestronk A, Cole FS, Steinfeld R..
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
Hum Mutat
.
2017;38
(11):
1477-1484.
doi:
10.1002/humu.23297
PMID:
28726266
Burton BK, Charrow J, Hoganson GE, Waggoner D, Tinkle B, Braddock SR, Schneider M, Grange DK, Nash C, Shryock H, Barnett R, Shao R, Basheeruddin K, Dizikes G..
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.
J Pediatr
.
2017;pii: S0022-3476
(17):
30898-3.
doi:
10.1016/j.jpeds.2017.06.048
PMID:
28728811
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